Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908491
rs121908491
0.800 GeneticVariation UNIPROT A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway. 21796726

2011

dbSNP: rs121908491
rs121908491
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011

dbSNP: rs121908491
rs121908491
0.800 GeneticVariation UNIPROT Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. 19066193

2009

dbSNP: rs121908491
rs121908491
0.800 GeneticVariation UNIPROT Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. 17853490

2008

dbSNP: rs121908491
rs121908491
0.800 GeneticVariation UNIPROT Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. 18175340

2008

dbSNP: rs121908491
rs121908491
0.800 GeneticVariation UNIPROT Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. 18362280

2008

dbSNP: rs121908491
rs121908491
0.800 GeneticVariation UNIPROT Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. 16227522

2006

dbSNP: rs121908491
rs121908491
0.800 GeneticVariation UNIPROT Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. 15079037

2004

dbSNP: rs121908491
rs121908491
0.800 GeneticVariation UNIPROT Genetic heterogeneity in ten families with myoclonus-dystonia. 15258227

2004

dbSNP: rs121908491
rs121908491
0.800 GeneticVariation UNIPROT Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. 12402271

2002

dbSNP: rs121908491
rs121908491
0.800 GeneticVariation UNIPROT Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. 11528394

2001

dbSNP: rs121908491
rs121908491
C 0.800 CausalMutation CLINVAR