Epm2a glucan phosphatase, laforin

Preferred Label : Epm2a glucan phosphatase, laforin;

Symbol : EPM2A;

CISMeF acronym : EPM2A;

Type : Gene;

Alternative titles and symbols : LAFORIN;

Included titles and symbols : Epm2a, isoform a; Epm2a, isoform b;

Ensembl ID : ENSG00000112425;

Prefixed ID : *607566;

Details

Origin ID

607566;

UMLS CUI

C1414435;

Automatic exact mappings (from CISMeF team)
- EPM2A gene [LOINC component]
- EPM2A glucan phosphatase, laforin [ORDO Gene]
- EPM2A glucan phosphatase, laforin [HGNC gene]
HGNC gene
- EPM2A glucan phosphatase, laforin [HGNC gene]
ORDO concept(s)
- EPM2A glucan phosphatase, laforin [ORDO Gene]
Phenotypes related
- Myoclonic epilepsy of lafora 1 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- EPM2A gene [LOINC component]
- EPM2A glucan phosphatase, laforin [HGNC gene]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients