GYS2, glycogen synthase 2, 2998

N. diseases: 43; N. variants: 17
Disease: Metabolic Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.010 GeneticVariation group BEFREE Glycogen storage disease (GSD) 0a is a rare congenital metabolic disease with symptoms in infancy and childhood caused by biallelic GYS2 germline variants. 29167993 2018