rs104893950, EPM2A

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lafora Disease
CUI: C0751783
Disease: Lafora Disease
0.720 GeneticVariation BEFREE For the first time, we describe a later onset and slower progression of EPM2A-deficient LD seen in Patient 4 and her three sisters who were doubly heterozygous for R241X and G279C in exon 4. 25246353 2014
Lafora Disease
CUI: C0751783
Disease: Lafora Disease
0.720 CausalMutation CLINVAR Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. 12019207 2002
Lafora Disease
CUI: C0751783
Disease: Lafora Disease
0.720 CausalMutation CLINVAR In spite of this remarkable allelic heterogeneity, the R241stop EPM2A mutation was found in approximately 40% of the Lafora disease patients. 11175283 2000
Lafora Disease
CUI: C0751783
Disease: Lafora Disease
0.720 GeneticVariation BEFREE In spite of this remarkable allelic heterogeneity, the R241stop EPM2A mutation was found in approximately 40% of the Lafora disease patients. 11175283 2000
Myoclonic Epilepsies, Progressive
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
0.700 CausalMutation CLINVAR Late onset Lafora disease and novel EPM2A mutations: breaking paradigms. 25246353 2014
Myoclonic Epilepsies, Progressive
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
0.700 CausalMutation CLINVAR Lafora disease: a case report, pathologic and genetic study. 21623095 2011
Myoclonic Epilepsies, Progressive
CUI: C0751778
Disease: Myoclonic Epilepsies, Progressive
0.700 CausalMutation CLINVAR Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. 9771710 1998