Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016

Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. 14722920

2004

Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
0.300 Biomarker GENOMICS_ENGLAND Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy. 10932264

2000