Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1064794321
rs1064794321
SGCE ; CASD1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs121908491
rs121908491
SGCE ; CASD1
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
SGCE ; CASD1
0.800 GeneticVariation UNIPROT EFNS guidelines on diagnosis and treatment of primary dystonias. 20482602

2011
dbSNP: rs121908491
rs121908491
SGCE ; CASD1
0.800 GeneticVariation UNIPROT Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. 19066193

2009
dbSNP: rs1064794321
rs1064794321
SGCE ; CASD1
G 0.800 CausalMutation CLINVAR Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. 18175340

2008
dbSNP: rs1064794321
rs1064794321
SGCE ; CASD1
G 0.800 CausalMutation CLINVAR No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. 18355305

2008
dbSNP: rs121908491
rs121908491
SGCE ; CASD1
0.800 GeneticVariation UNIPROT Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. 17853490

2008
dbSNP: rs121908491
rs121908491
SGCE ; CASD1
0.800 GeneticVariation UNIPROT Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. 18175340

2008
dbSNP: rs121908491
rs121908491
SGCE ; CASD1
0.800 GeneticVariation UNIPROT Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. 18362280

2008
dbSNP: rs121908491
rs121908491
SGCE ; CASD1
0.800 GeneticVariation UNIPROT Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes. 16227522

2006
dbSNP: rs121908491
rs121908491
SGCE ; CASD1
0.800 GeneticVariation UNIPROT Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. 15079037

2004
dbSNP: rs121908491
rs121908491
SGCE ; CASD1
0.800 GeneticVariation UNIPROT Genetic heterogeneity in ten families with myoclonus-dystonia. 15258227

2004
dbSNP: rs121908491
rs121908491
SGCE ; CASD1
0.800 GeneticVariation UNIPROT Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. 12402271

2002
dbSNP: rs121908491
rs121908491
SGCE ; CASD1
0.800 GeneticVariation UNIPROT Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. 11528394

2001
dbSNP: rs1064794321
rs1064794321
SGCE ; CASD1
G 0.800 CausalMutation CLINVAR A major locus for myoclonus-dystonia maps to chromosome 7q in eight families. 11022010

2000
dbSNP: rs121908491
rs121908491
SGCE ; CASD1
C 0.800 CausalMutation CLINVAR

dbSNP: rs121908492
rs121908492
SGCE ; CASD1
A 0.700 CausalMutation CLINVAR Defining the epsilon-sarcoglycan (SGCE) gene phenotypic signature in myoclonus-dystonia: a reappraisal of genetic testing criteria. 23677909

2013
dbSNP: rs372686312
rs372686312
SGCE ; CASD1
0.700 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: rs794727794
rs794727794
SGCE ; CASD1
C 0.700 CausalMutation CLINVAR A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved spontaneously. 22259621

2011
dbSNP: rs1562806242
rs1562806242
SGCE ; CASD1
A 0.700 CausalMutation CLINVAR """Jerky"" dystonia in children: spectrum of phenotypes and genetic testing." 19117362

2009
dbSNP: rs372686312
rs372686312
SGCE ; CASD1
0.700 GeneticVariation UNIPROT Myoclonus-dystonia: clinical and genetic evaluation of a large cohort. 19066193

2009
dbSNP: rs121908492
rs121908492
SGCE ; CASD1
A 0.700 CausalMutation CLINVAR Myoclonus-dystonia: significance of large SGCE deletions. 18205193

2008
dbSNP: rs372686312
rs372686312
SGCE ; CASD1
0.700 GeneticVariation UNIPROT Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. 18362280

2008
dbSNP: rs372686312
rs372686312
SGCE ; CASD1
0.700 GeneticVariation UNIPROT Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. 18175340

2008
dbSNP: rs372686312
rs372686312
SGCE ; CASD1
0.700 GeneticVariation UNIPROT Myoclonus-dystonia syndrome: clinical presentation, disease course, and genetic features in 11 families. 17853490

2008