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: rs746331571
rs746331571
Entrez Id: 8910;64921
Gene Symbol: SGCE;CASD1
SGCE;CASD1
CUI: C1834570
Disease:
Myoclonic dystonia 		0.010 GeneticVariation BEFREE In conclusion, we demonstrate that the KCTD17 c.434 G>A p.(Arg145His) mutation causes autosomal dominant M-D. Further functional studies are warranted to further characterize the nature of KCTD17 contribution to the molecular pathogenesis of M-D. 25983243 2015