pyruvate dehydrogenase E1 subunit alpha 1

Preferred Label : pyruvate dehydrogenase E1 subunit alpha 1;

Approved symbol HGNC : PDHA1;

Name synonyms HGNC : somatic form; pyruvate dehydrogenase E1 component subunit alpha; mitochondrial;

Alias symbols HGNC : E1alpha;

Chromosome HGNC : Xp22.12;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000131828;

Details

Origin ID

HGNC:8806;

UMLS CUI

C1418437;

Automatic exact mappings (from CISMeF team)
- Mitochondrial inheritance [HPO term]
- Mitochondrion [NCIt concept]
- Muscular Dystrophy Secondary to Mitochondrial Disorder [NCIt concept]
- NADH:ubiquinone oxidoreductase core subunit S3 [ORDO Gene]
- Pyruvate dehydrogenase e1, subunit alpha-1 [OMIM gene]
- pyruvate dehydrogenase E1 subunit alpha 1 [ORDO Gene]
OMIM gene
- Pyruvate dehydrogenase e1, subunit alpha-1 [OMIM gene]
Orphanet gene
- pyruvate dehydrogenase E1 subunit alpha 1 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PDHA1 gene [LOINC component]
- Pyruvate dehydrogenase e1, subunit alpha-1 [OMIM gene]

Keyword's position in hierarchy(ies) :

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