{ "uniprot_canonical_ac": "O43772-1", "uniprot_ac": "O43772", "uniprot_id": "MCAT_HUMAN", "mass": { "chemical_mass": 32944.0, "monoisotopic_mass": 32944.0 }, "refseq": { "ac": "NP_000378", "name": "mitochondrial carnitine/acylcarnitine carrier protein", "summary": "This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378" }, "gene_names": [ { "name": "SLC25A20", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O43772", "id": "O43772" }, { "name": "CAC; CACT", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378", "id": "NP_000378" }, { "name": "CACT", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43772", "id": "O43772" }, { "name": "CAC", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O43772", "id": "O43772" }, { "name": "SLC25A20", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378", "id": "NP_000378" } ], "protein_names": [ { "name": "Mitochondrial carnitine/acylcarnitine carrier protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O43772" }, { "name": "CACT", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43772" }, { "name": "CAC", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43772" }, { "name": "Carnitine/acylcarnitine translocase", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43772" }, { "name": "Solute carrier family 25 member 20", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O43772" }, { "name": "mitochondrial carnitine/acylcarnitine carrier protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378", "id": "NP_000378" }, { "name": "solute carrier family 25 (carnitine/acylcarnitine translocase), member 20", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378", "id": "NP_000378" } ], "function": [ { "annotation": "Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.", "evidence": [ { "database": "RefSeq", "id": "NP_000378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378" }, { "database": "PubMed", "id": "34449152", "url": "https://glygen.org/publication/PubMed/34449152" } ] }, { "annotation": "Inhibition of the Mitochondrial Carnitine/Acylcarnitine Carrier by Itaconate through Irreversible Binding to Cysteine 136: Possible Pathophysiological Implications. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378" }, { "database": "PubMed", "id": "37371573", "url": "https://glygen.org/publication/PubMed/37371573" } ] }, { "annotation": "Mediates the electroneutral exchange of acylcarnitines (O-acyl-(R)-carnitine or L-acylcarnitine) of different acyl chain lengths (ranging from O-acetyl-(R)-carnitine to long-chain O-acyl-(R)-carnitines) with free carnitine ((R)-carnitine or L-carnitine) across the mitochondrial inner membrane, via a ping-pong mechanism (PubMed:12892634, PubMed:18307102) (Probable). Key player in the mitochondrial oxidation pathway, it translocates the fatty acids in the form of acylcarnitines into the mitochondrial matrix, where the carnitine palmitoyltransferase 2 (CPT-2) activates them to undergo fatty acid beta-oxidation (Probable). Catalyzes the unidirectional transport (uniport) of carnitine at lower rates than the antiport (exchange) (PubMed:18307102).", "evidence": [ { "database": "UniProtKB", "id": "O43772", "url": "https://www.uniprot.org/uniprot/O43772#function" }, { "database": "PubMed", "id": "20347717", "url": "https://glygen.org/publication/PubMed/20347717" }, { "database": "PubMed", "id": "18307102", "url": "https://glygen.org/publication/PubMed/18307102" }, { "database": "PubMed", "id": "12892634", "url": "https://glygen.org/publication/PubMed/12892634" } ] }, { "annotation": "Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.", "evidence": [ { "database": "RefSeq", "id": "NP_000378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378" }, { "database": "PubMed", "id": "34626609", "url": "https://glygen.org/publication/PubMed/34626609" } ] }, { "annotation": "This gene product is one of several closely related mitochondrial-membrane carrier proteins that shuttle substrates between cytosol and the intramitochondrial matrix space. This protein mediates the transport of acylcarnitines into mitochondrial matrix for their oxidation by the mitochondrial fatty acid-oxidation pathway. Mutations in this gene are associated with carnitine-acylcarnitine translocase deficiency, which can cause a variety of pathological conditions such as hypoglycemia, cardiac arrest, hepatomegaly, hepatic dysfunction and muscle weakness, and is usually lethal in new born and infants. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378" } ] }, { "annotation": "We report the first 2 cases of CACTD identified from the mainland China. Apart from a founder mutation c.199-10T>G, we have identified a novel c.1A>G mutation. Patients with Carnitine-acylcarnitine translocase deficiency with a genotype of c.199-10T>G mutation usually presents with a severe clinical phenotype. Early recognition and appropriate treatment is crucial in this highly lethal disorder. Review article", "evidence": [ { "database": "RefSeq", "id": "NP_000378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378" }, { "database": "PubMed", "id": "29137068", "url": "https://glygen.org/publication/PubMed/29137068" } ] } ], "disease": [ { "disease_id": "DOID:0111585", "recommended_name": { "id": "DOID:0111585", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111585", "name": "carnitine-acylcarnitine translocase deficiency", "description": "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31." }, "synonyms": [ { "id": "DOID:0111585", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111585", "name": "CACT deficiency", "description": "" }, { "id": "DOID:0111585", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111585", "name": "CACTD", "description": "" }, { "id": "MONDO:0008918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008918", "name": "carnitine-acylcarnitine translocase deficiency", "description": "Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy." }, { "id": "MONDO:0008918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008918", "name": "CACT deficiency", "description": "" }, { "id": "MONDO:0008918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008918", "name": "carnitine-acylcarnitine translocase deficiency", "description": "" }, { "id": "MONDO:0008918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008918", "name": "CACTD", "description": "" }, { "id": "MONDO:0008918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008918", "name": "CARNITINE-acylcarnitine translocase deficiency", "description": "" }, { "id": "MONDO:0008918", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008918", "name": "Cact deficiency", "description": "" }, { "id": "MIM:212138", "resource": "MIM", "url": "https://www.omim.org/entry/212138", "name": "Carnitine-acylcarnitine translocase deficiency", "description": "Carnitine-acylcarnitine translocase deficiency" } ], "evidence": [ { "id": "212138", "database": "MIM", "url": "https://www.omim.org/entry/212138" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "86.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "78.26", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "87.17", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "66.87", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "90.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "92.96", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "85.94", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "79.35", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "83.03", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "95.29", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "87.16", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "86.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000178537", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000178537" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O43772", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43772" } ], "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 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"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": 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}, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O43772", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43772" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "O43772", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43772" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "O43772", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43772" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "O43772", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43772" } ], "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": "O43772", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43772" } ], "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": "O43772", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43772" } ], "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": "O43772", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43772" } ], "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": "O43772", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43772" } ], "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": "No", "trend": "down", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "O43772", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43772" } ], "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": "O43772", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43772" } ], "disease": [ { "disease_id": "DOID:5041", "recommended_name": { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophageal cancer", "description": "A gastrointestinal system cancer that is located_in the esophagus." }, "synonyms": [ { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca lower third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "Ca middle third oesophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "esophagus cancer", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of distal third of esophagus", "description": "" }, { "id": "DOID:5041", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5041", "name": "malignant neoplasm of lower third of 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"https://www.uniprot.org/uniprot/O43772-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKVRLQTQPPSLPGQPPMYSGTFDCFRKTLFREGITGLYRGMAAPIIGVTPMFAVCFFGFGLGKKLQQKHPEDVLSYPQLFAAGMLSGVFTTGIMTPGERIKCLLQIQASSGESKYTGTLDCAKKLYQEFGIRGIYKGTVLTLMRDVPASGMYFMTYEWLKNIFTPEGKRVSELSAPRILVAGGIAGIFNWAVAIPPDVLKSRFQTAPPGKYPNGFRDVLRELIRDEGVTSLYKGFNAVMIRAFPANAACFLGFEVAMKFLNWATPNL", "length": 301, "header": "sp|O43772-1|MCAT_HUMAN Isoform 1 of Mitochondrial carnitine/acylcarnitine carrier protein OS=Homo sapiens OX=9606 GN=SLC25A20 PE=1 SV=1 CANONICAL=O43772-1" }, "isoforms": [ { "isoform_ac": "C9JPE1-1", "url": "", "sequence": { "sequence": "MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKVRLQTQPPSLPGQPPMYSGTFDCFRKTLFREIQASSGESKYTGTLDCAKKLYQEFGIRGIYKGTVLTLMRDVPASGMYFMTYEWLKNIFTPEGKRVSELSAPRILVAGGIAGIFNWAVAIPPDVLKSRFQTAPPGKYPNGFRDVLRELIRDEGVTSLYKGFNAVMIRAFPANAACFLGFEVAMKFLNWATPNL", "length": 228, "header": "tr|C9JPE1-1|C9JPE1_HUMAN Computationally mapped isoform of Solute carrier family 25 member 20 OS=Homo sapiens OX=9606 GN=SLC25A20 PE=1 SV=1 CANONICAL=O43772-1" }, "locus": { "chromosome": "3", "start_pos": 48898794, "end_pos": 48857713, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000430379.5", "url": "https://www.ensembl.org/id/ENST00000430379.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000388986.1", "url": "https://www.ensembl.org/id/ENSP00000388986.1" } ] } }, { "isoform_ac": "F8WEF6-1", "url": "", "sequence": { "sequence": "MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKGRLCLTMGDLKDNMRDFGCKGPTADTATEFAWTTSHVLWDL", "length": 76, "header": "tr|F8WEF6-1|F8WEF6_HUMAN Computationally mapped isoform of Solute carrier family 25 member 20 OS=Homo sapiens OX=9606 GN=SLC25A20 PE=1 SV=1 CANONICAL=O43772-1" }, "locus": { "chromosome": "3", "start_pos": 48898794, "end_pos": 48892011, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440964.1", "url": "https://www.ensembl.org/id/ENST00000440964.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000388563.1", "url": "https://www.ensembl.org/id/ENSP00000388563.1" } ] } }, { "isoform_ac": "O43772-1", "url": "", "sequence": { "sequence": "MADQPKPISPLKNLLAGGFGGVCLVFVGHPLDTVKVRLQTQPPSLPGQPPMYSGTFDCFRKTLFREGITGLYRGMAAPIIGVTPMFAVCFFGFGLGKKLQQKHPEDVLSYPQLFAAGMLSGVFTTGIMTPGERIKCLLQIQASSGESKYTGTLDCAKKLYQEFGIRGIYKGTVLTLMRDVPASGMYFMTYEWLKNIFTPEGKRVSELSAPRILVAGGIAGIFNWAVAIPPDVLKSRFQTAPPGKYPNGFRDVLRELIRDEGVTSLYKGFNAVMIRAFPANAACFLGFEVAMKFLNWATPNL", "length": 301, "header": "sp|O43772-1|MCAT_HUMAN Isoform 1 of Mitochondrial carnitine/acylcarnitine carrier protein OS=Homo sapiens OX=9606 GN=SLC25A20 PE=1 SV=1 CANONICAL=O43772-1" }, "locus": { "chromosome": "3", "start_pos": 48898794, "end_pos": 48857713, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000319017.5", "url": "https://www.ensembl.org/id/ENST00000319017.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000326305.4", "url": "https://www.ensembl.org/id/ENSP00000326305.4" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Seth P, Wu X, Huang W, Leibach FH, Ganapathy V", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "10559218", "url": "https://glygen.org/publication/PubMed/10559218" } ] }, { "title": "The subcellular localization of acetyl-CoA carboxylase 2.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2000", "authors": "Abu-Elheiga L, Brinkley WR, Zhong L, Chirala SS, Woldegiorgis G, Wakil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "10677481", "url": "https://glygen.org/publication/PubMed/10677481" } ] }, { "title": "Structure-function relationships of the liver and muscle isoforms of carnitine palmitoyltransferase I.", "journal": "Biochemical Society transactions", "date": "2001", "authors": "Zammit VA, Price NT, Fraser F, Jackson VN", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "11356169", "url": "https://glygen.org/publication/PubMed/11356169" } ] }, { "title": "Structural model of a malonyl-CoA-binding site of carnitine octanoyltransferase and carnitine palmitoyltransferase I: mutational analysis of a malonyl-CoA affinity domain.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Morillas M, Gomez-Puertas P, Rubi B, Clotet J, Arino J, Valencia A, Hegardt FG, Serra D, Asins G", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "11790793", "url": "https://glygen.org/publication/PubMed/11790793" } ] }, { "title": "A novel molecular defect of the carnitine acylcarnitine translocase gene in a Saudi patient.", "journal": "Clinical genetics", "date": "2003", "authors": "Al Aqeel AI, Rashid MS, Ruiter JP, Ijlst L, Wanders RJ", "evidence": [ { "database": "UniProtKB", "id": "O43772", "url": "https://www.uniprot.org/uniprot/O43772" } ], "reference": [ { "type": "PubMed", "id": "12859414", "url": "https://glygen.org/publication/PubMed/12859414" } ] }, { "title": "Functional analysis of mutations in the human carnitine/acylcarnitine translocase in Aspergillus nidulans.", "journal": "Fungal genetics and biology : FG & B", "date": "2003-08", "authors": "P\u00e9rez Patricia, Mart\u00ednez Oscar, Romero Beatriz, Olivas Israel, Pedregosa Ana M, Palmieri Ferdinando, Laborda Fernando, Ram\u00f3n De Lucas J", "evidence": [ { "database": "UniProtKB", "id": "O43772", "url": "https://www.uniprot.org/uniprot/O43772" } ], "reference": [ { "type": "PubMed", "id": "12892634", "url": "https://glygen.org/publication/PubMed/12892634" } ] }, { "title": "Functional and structural basis of carnitine palmitoyltransferase 1A deficiency.", "journal": "The Journal of biological chemistry", "date": "2003", "authors": "Gobin S, Thuillier L, Jogl G, Faye A, Tong L, Chi M, Bonnefont JP, Girard J, Prip-Buus C", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "14517221", "url": "https://glygen.org/publication/PubMed/14517221" } ] }, { "title": "Structural model of carnitine palmitoyltransferase I based on the carnitine acetyltransferase crystal.", "journal": "The Biochemical journal", "date": "2004", "authors": "Morillas M, Lopez-Vinas E, Valencia A, Serra D, Gomez-Puertas P, Hegardt FG, Asins G", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "14711372", "url": "https://glygen.org/publication/PubMed/14711372" } ] }, { "title": "Response to therapy in carnitine/acylcarnitine translocase (CACT) deficiency due to a novel missense mutation.", "journal": "American journal of medical genetics. Part A", "date": "2004", "authors": "Iacobazzi V, Pasquali M, Singh R, Matern D, Rinaldo P, Amat di San Filippo C, Palmieri F, Longo N", "evidence": [ { "database": "UniProtKB", "id": "O43772", "url": "https://www.uniprot.org/uniprot/O43772" } ], "reference": [ { "type": "PubMed", "id": "15057979", "url": "https://glygen.org/publication/PubMed/15057979" } ] }, { "title": "AMP kinase and malonyl-CoA: targets for therapy of the metabolic syndrome.", "journal": "Nature reviews. Drug discovery", "date": "2004", "authors": "Ruderman N, Prentki M", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "15060529", "url": "https://glygen.org/publication/PubMed/15060529" } ] }, { "title": "Molecular and functional analysis of SLC25A20 mutations causing carnitine-acylcarnitine translocase deficiency.", "journal": "Human mutation", "date": "2004", "authors": "Iacobazzi V, Invernizzi F, Baratta S, Pons R, Chung W, Garavaglia B, Dionisi-Vici C, Ribes A, Parini R, Huertas MD, Roldan S, Lauria G, Palmieri F, Taroni F", "evidence": [ { "database": "UniProtKB", "id": "O43772", "url": "https://www.uniprot.org/uniprot/O43772" } ], "reference": [ { "type": "PubMed", "id": "15365988", "url": "https://glygen.org/publication/PubMed/15365988" } ] }, { "title": "Expression, purification, and characterization of human acetyl-CoA carboxylase 2.", "journal": "Protein expression and purification", "date": "2007", "authors": "Kim KW, Yamane H, Zondlo J, Busby J, Wang M", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "17223360", "url": "https://glygen.org/publication/PubMed/17223360" } ] }, { "title": "Functional characterization of residues within the carnitine/acylcarnitine translocase RX2PANAAXF distinct motif.", "journal": "Molecular membrane biology", "date": "2008-02", "authors": "De Lucas J Ramon, Indiveri Cesare, Tonazzi Annamaria, Perez Patricia, Giangregorio Nicola, Iacobazzi Vito, Palmieri Ferdinando", "evidence": [ { "database": "UniProtKB", "id": "O43772", "url": "https://www.uniprot.org/uniprot/O43772" } ], "reference": [ { "type": "PubMed", "id": "18307102", "url": "https://glygen.org/publication/PubMed/18307102" } ] }, { "title": "Hepatic expression of the SPOT 14 (S14) paralog S14-related (Mid1 interacting protein) is regulated by dietary carbohydrate.", "journal": "Endocrinology", "date": "2008", "authors": "Tsatsos NG, Augustin LB, Anderson GW, Towle HC, Mariash CN", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "18556348", "url": "https://glygen.org/publication/PubMed/18556348" } ] }, { "title": "Overlapping roles of the glucose-responsive genes, S14 and S14R, in hepatic lipogenesis.", "journal": "Endocrinology", "date": "2010", "authors": "Aipoalani DL, O'Callaghan BL, Mashek DG, Mariash CN, Towle HC", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "20233797", "url": "https://glygen.org/publication/PubMed/20233797" } ] }, { "title": "Site-directed mutagenesis of charged amino acids of the human mitochondrial carnitine/acylcarnitine carrier: insight into the molecular mechanism of transport.", "journal": "Biochimica et biophysica acta", "date": "2010", "authors": "Giangregorio Nicola, Tonazzi Annamaria, Console Lara, Indiveri Cesare, Palmieri Ferdinando", "evidence": [ { "database": "UniProtKB", "id": "O43772", "url": "https://www.uniprot.org/uniprot/O43772" } ], "reference": [ { "type": "PubMed", "id": "20347717", "url": "https://glygen.org/publication/PubMed/20347717" } ] }, { "title": "Induced polymerization of mammalian acetyl-CoA carboxylase by MIG12 provides a tertiary level of regulation of fatty acid synthesis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2010", "authors": "Kim CW, Moon YA, Park SW, Cheng D, Kwon HJ, Horton JD", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "20457939", "url": "https://glygen.org/publication/PubMed/20457939" } ] }, { "title": "Selectivity in post-translational biotin addition to five human carboxylases.", "journal": "The Journal of biological chemistry", "date": "2012", "authors": "Ingaramo M, Beckett D", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "22123817", "url": "https://glygen.org/publication/PubMed/22123817" } ] }, { "title": "Induction of carnitine palmitoyl transferase 1 and fatty acid oxidation by retinoic acid in HepG2 cells.", "journal": "The international journal of biochemistry & cell biology", "date": "2012", "authors": "Amengual J, Petrov P, Bonet ML, Ribot J, Palou A", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "22871568", "url": "https://glygen.org/publication/PubMed/22871568" } ] }, { "title": "Spot14/Mig12 heterocomplex sequesters polymerization and restrains catalytic function of human acetyl-CoA carboxylase 2.", "journal": "Journal of molecular recognition : JMR", "date": "2013", "authors": "Park S, Hwang IW, Makishima Y, Perales-Clemente E, Kato T, Niederlander NJ, Park EY, Terzic A", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "24277613", "url": "https://glygen.org/publication/PubMed/24277613" } ] }, { "title": "Carnitine transport and fatty acid oxidation.", "journal": "Biochimica et biophysica acta", "date": "2016", "authors": "Longo N, Frigeni M, Pasquali M", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "26828774", "url": "https://glygen.org/publication/PubMed/26828774" } ] }, { "title": "Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review.", "journal": "Medicine", "date": "2017", "authors": "Yan HM, Hu H, Ahmed A, Feng BB, Liu J, Jia ZJ, Wang H", "evidence": [ { "database": "RefSeq", "id": "NP_000378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378" } ], "reference": [ { "type": "PubMed", "id": "29137068", "url": "https://glygen.org/publication/PubMed/29137068" } ] }, { "title": "Clinical and molecular characteristics of carnitineacylcarnitine translocase deficiency with c.270delC and a novel c.408C>A variant.", "journal": "The Turkish journal of pediatrics", "date": "2021", "authors": "Gurbuz BB, Yilmaz DY, Ozgul RK, Kosukcu C, Dursun A, Sivri HS, Coskun T, Tokatli A", "evidence": [ { "database": "RefSeq", "id": "NP_000378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378" } ], "reference": [ { "type": "PubMed", "id": "34449152", "url": "https://glygen.org/publication/PubMed/34449152" } ] }, { "title": "Novel mutations associated with carnitine-acylcarnitine translocase and carnitine palmitoyl transferase 2 deficiencies in Malaysia.", "journal": "Clinical biochemistry", "date": "2021", "authors": "Habib A, Azize NAA, Rahman SA, Yakob Y, Suberamaniam V, Nazri MIBA, Abdullah Sani H, Ch'ng GS, Yin LH, Olpin S, Lock-Hock N", "evidence": [ { "database": "RefSeq", "id": "NP_000378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378" } ], "reference": [ { "type": "PubMed", "id": "34626609", "url": "https://glygen.org/publication/PubMed/34626609" } ] }, { "title": "Inhibition of the Mitochondrial Carnitine/Acylcarnitine Carrier by Itaconate through Irreversible Binding to Cysteine 136: Possible Pathophysiological Implications.", "journal": "Biomolecules", "date": "2023-06-15", "authors": "Giangregorio Nicola, Tonazzi Annamaria, Console Lara, Scalise Mariafrancesca, Indiveri Cesare", "evidence": [ { "database": "RefSeq", "id": "NP_000378", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000378" } ], "reference": [ { "type": "PubMed", "id": "37371573", "url": "https://glygen.org/publication/PubMed/37371573" } ] }, { "title": "Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations.", "journal": "Human molecular genetics", "date": "1995", "authors": "Verderio E, Cavadini P, Montermini L, Wang H, Lamantea E, Finocchiaro G, DiDonato S, Gellera C, Taroni F", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "7711730", "url": "https://glygen.org/publication/PubMed/7711730" } ] }, { "title": "Human acetyl-CoA carboxylase 2. Molecular cloning, characterization, chromosomal mapping, and evidence for two isoforms.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Abu-Elheiga L, Almarza-Ortega DB, Baldini A, Wakil SJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "9099716", "url": "https://glygen.org/publication/PubMed/9099716" } ] }, { "title": "Functional studies of yeast-expressed human heart muscle carnitine palmitoyltransferase I.", "journal": "Archives of biochemistry and biophysics", "date": "1997", "authors": "Zhu H, Shi J, de Vries Y, Arvidson DN, Cregg JM, Woldegiorgis G", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "9344464", "url": "https://glygen.org/publication/PubMed/9344464" } ] }, { "title": "Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient.", "journal": "Am. J. Hum. Genet.", "date": "1997", "authors": "Huizing M, Iacobazzi V, Ijlst L, Savelkoul P, Ruitenbeek W, van den Heuvel L, Indiveri C, Smeitink J, Trijbels F, Wanders R, Palmieri F", "evidence": [ { "database": "UniProtKB", "id": "O43772", "url": "https://www.uniprot.org/uniprot/O43772" }, { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "9399886", "url": "https://glygen.org/publication/PubMed/9399886" } ] }, { "title": "Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2.", "journal": "The Journal of biological chemistry", "date": "1998", "authors": "Tamai I, Ohashi R, Nezu J, Yabuuchi H, Oku A, Shimane M, Sai Y, Tsuji A", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "9685390", "url": "https://glygen.org/publication/PubMed/9685390" } ] }, { "title": "Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.", "journal": "The Journal of clinical investigation", "date": "1998", "authors": "IJlst L, Mandel H, Oostheim W, Ruiter JP, Gutman A, Wanders RJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "9691089", "url": "https://glygen.org/publication/PubMed/9691089" } ] }, { "title": "Genetic disorders of carnitine metabolism and their nutritional management.", "journal": "Annual review of nutrition", "date": "1998", "authors": "Kerner J, Hoppel C", "evidence": [ { "database": "Reactome", "id": "R-HSA-200425", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-200425" } ], "reference": [ { "type": "PubMed", "id": "9706223", "url": "https://glygen.org/publication/PubMed/9706223" } ] }, { "title": "The structure and organization of the human carnitine/acylcarnitine translocase (CACT) gene.", "journal": "Biochem. Biophys. Res. 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