Branched-chain keto acid dehydrogenase e1, alpha polypeptide

Preferred Label : Branched-chain keto acid dehydrogenase e1, alpha polypeptide;

Symbol : BCKDHA;

CISMeF acronym : BCKDHA;

Type : Gene;

Alternative titles and symbols : Bckd, e1-alpha subunit; BCKDE1A;

Ensembl ID : ENSG00000248098;

Prefixed ID : *608348;

Détails

Origin ID

608348;

UMLS CUI

C1412759;

Automatic exact mappings (from CISMeF team)
- branched chain keto acid dehydrogenase E1 subunit alpha [HGNC gene]
- branched chain keto acid dehydrogenase E1 subunit alpha [ORDO Gene]
HGNC gene
- branched chain keto acid dehydrogenase E1 subunit alpha [HGNC gene]
NCIt concept(s)
- 2-Oxoisovalerate Dehydrogenase Subunit Alpha, Mitochondrial [NCIt concept]
- BCKDHA Gene [NCIt concept]
- BCKDHA wt Allele [NCIt concept]
ORDO concept(s)
- branched chain keto acid dehydrogenase E1 subunit alpha [ORDO Gene]
Phenotypes related
- Maple syrup urine disease, type ia [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- branched chain keto acid dehydrogenase E1 subunit alpha [HGNC gene]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients