SGCE, sarcoglycan epsilon, 8910

N. diseases: 68; N. variants: 27
Disease: Myoclonic dystonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727794
rs794727794
Entrez Id: 8910;64921
Gene Symbol: SGCE;CASD1
SGCE;CASD1
CUI: C1834570
Disease:
Myoclonic dystonia 		C 0.700 CausalMutation CLINVAR A patient with genetically confirmed myoclonus-dystonia responded to anticholinergic treatment and improved spontaneously. 22259621 2011
dbSNP: rs794727794
rs794727794
Entrez Id: 8910;64921
Gene Symbol: SGCE;CASD1
SGCE;CASD1
CUI: C1834570
Disease:
Myoclonic dystonia 		C 0.700 CausalMutation CLINVAR Myoclonus-dystonia: significance of large SGCE deletions. 18205193 2008
dbSNP: rs794727794
rs794727794
Entrez Id: 8910;64921
Gene Symbol: SGCE;CASD1
SGCE;CASD1
CUI: C1834570
Disease:
Myoclonic dystonia 		C 0.700 CausalMutation CLINVAR Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. 17296918 2007