EPM2A, EPM2A glucan phosphatase, laforin, 7957

N. diseases: 87; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT Mechanistic Insights into Glucan Phosphatase Activity against Polyglucan Substrates. 26231210 2015
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease. 25544560 2015
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 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
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin. 18311786 2008
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit. 15009235 2004
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. 14706656 2004
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. 14722920 2004
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. 14532330 2003
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy. 12560877 2003
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT 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
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen. 11739371 2002
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes. 11001928 2000
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. 11175283 2000
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2). 9931343 1999
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.810 GeneticVariation UNIPROT Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. 9771710 1998
dbSNP: rs137852917
rs137852917
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		T 0.810 CausalMutation CLINVAR
dbSNP: rs104893955
rs104893955
Entrez Id: 7957;100507557
Gene Symbol: EPM2A;LOC100507557
EPM2A;LOC100507557
CUI: C0751783
Disease:
Lafora Disease 		0.800 GeneticVariation UNIPROT Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease. 25544560 2015
dbSNP: rs104893955
rs104893955
Entrez Id: 7957;100507557
Gene Symbol: EPM2A;LOC100507557
EPM2A;LOC100507557
CUI: C0751783
Disease:
Lafora Disease 		0.800 GeneticVariation UNIPROT Mechanistic Insights into Glucan Phosphatase Activity against Polyglucan Substrates. 26231210 2015
dbSNP: rs137852915
rs137852915
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.800 GeneticVariation UNIPROT Mechanistic Insights into Glucan Phosphatase Activity against Polyglucan Substrates. 26231210 2015
dbSNP: rs137852915
rs137852915
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.800 GeneticVariation UNIPROT Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease. 25544560 2015
dbSNP: rs104893955
rs104893955
Entrez Id: 7957;100507557
Gene Symbol: EPM2A;LOC100507557
EPM2A;LOC100507557
CUI: C0751783
Disease:
Lafora Disease 		0.800 GeneticVariation UNIPROT Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin. 18311786 2008
dbSNP: rs137852915
rs137852915
Entrez Id: 7957
Gene Symbol: EPM2A
EPM2A
CUI: C0751783
Disease:
Lafora Disease 		0.800 GeneticVariation UNIPROT Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin. 18311786 2008
dbSNP: rs104893955
rs104893955
Entrez Id: 7957;100507557
Gene Symbol: EPM2A;LOC100507557
EPM2A;LOC100507557
CUI: C0751783
Disease:
Lafora Disease 		0.800 GeneticVariation UNIPROT The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies. 14706656 2004
dbSNP: rs104893955
rs104893955
Entrez Id: 7957;100507557
Gene Symbol: EPM2A;LOC100507557
EPM2A;LOC100507557
CUI: C0751783
Disease:
Lafora Disease 		0.800 GeneticVariation UNIPROT A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit. 15009235 2004
dbSNP: rs104893955
rs104893955
Entrez Id: 7957;100507557
Gene Symbol: EPM2A;LOC100507557
EPM2A;LOC100507557
CUI: C0751783
Disease:
Lafora Disease 		0.800 GeneticVariation UNIPROT Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. 14722920 2004