GYS2, glycogen synthase 2, 2998

N. diseases: 43; N. variants: 17
Disease: Gerstmann-Straussler-Scheinker Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		0.010 AlteredExpression disease BEFREE Our results support therapeutic silencing of GYS2 expression to prevent glycogen and lipid accumulation, which mediate initial signals that subsequently trigger cascades of long-term liver injury in GSDs. 29784585 2018