Torsin 1a - CISMeF

Preferred Label : Torsin 1a;

Symbol : TOR1A;

CISMeF acronym : TOR1A;

Type : Gene;

Alternative titles and symbols : Dyt1 gene;

Ensembl ID : ENSG00000136827;

Prefixed ID : *605204;

Details

Origin ID

605204;

UMLS CUI

C1540039;

Automatic exact mappings (from CISMeF team)
- TOR1A Gene [NCIt concept]
- TOR1A gene [LOINC component]
- Torsin-1A [NCIt concept]
- torsin family 1 member A [HGNC gene]
- torsin family 1 member A [ORDO Gene]
HGNC gene
- torsin family 1 member A [HGNC gene]
NCIt concept(s)
- TOR1A Gene [NCIt concept]
- TOR1A wt Allele [NCIt concept]
- Torsin-1A [NCIt concept]
ORDO concept(s)
- torsin family 1 member A [ORDO Gene]
Phenotypes related
- Arthrogryposis multiplex congenita 5 [OMIM Phenotype]
- Dystonia 1, torsion, autosomal dominant [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- TOR1A Gene [NCIt concept]
- TOR1A gene [LOINC component]
- torsin family 1 member A [HGNC gene]

Keyword's position in hierarchy(ies) :

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