actin alpha 1, skeletal muscle

Preferred Label : actin alpha 1, skeletal muscle;

Approved symbol HGNC : ACTA1;

Name synonyms HGNC : nemaline myopathy type 3;

Alias symbols HGNC : NEM3;

Chromosome HGNC : 1q42.13;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000143632;

Details

Origin ID

HGNC:129;

UMLS CUI

C1412136;

Automatic exact mappings (from CISMeF team)
- Actin, alpha-1, skeletal muscle [OMIM gene]
- Congenital myopathy 2a, typical, autosomal dominant [OMIM Phenotype]
- actin alpha 1, skeletal muscle [ORDO Gene]
NCIt concept
- ACTA1 Gene [NCIt concept]
OMIM gene
- Actin, alpha-1, skeletal muscle [OMIM gene]
Orphanet gene
- actin alpha 1, skeletal muscle [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- ACTA1 Gene [NCIt concept]
- ACTA1 gene [LOINC component]
- Actin, alpha-1, skeletal muscle [OMIM gene]

Keyword's position in hierarchy(ies) :

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