SGCE, sarcoglycan epsilon, 8910

N. diseases: 68; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
0.020 GeneticVariation disease BEFREE Furthermore, torsinA, that is mutated in DYT1 dystonia, a rare type of primary dystonia, binds to and promotes the degradation of epsilon-sarcoglycan mutants when both proteins are co-expressed. 17200151 2007
CUI: C0752203
Disease: Dystonia, Primary
Dystonia, Primary
0.020 GeneticVariation disease BEFREE Our results suggest that mutations in the SGCE gene cannot be held responsible for other subtypes of primary dystonia. 15390016 2004