EPM2A, EPM2A glucan phosphatase, laforin, 7957

N. diseases: 87; N. variants: 20
Disease: Myoclonic Epilepsies, Progressive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781291421
rs781291421
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		T 0.700 CausalMutation CLINVAR Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. 14722920 2004