GYS2, glycogen synthase 2, 2998

N. diseases: 43; N. variants: 17
Disease: Glycogen synthase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342748
Disease: Glycogen synthase deficiency
Glycogen synthase deficiency 		0.050 GeneticVariation disease BEFREE These variants were in the genes C5orf42 (associated with Joubert syndrome and orofaciodigital syndrome) and GYS2 (associated with glycogen synthase deficiency). 29961766 2019
CUI: C0342748
Disease: Glycogen synthase deficiency
Glycogen synthase deficiency 		0.050 Biomarker disease BEFREE Recognition of the variable phenotypic spectrum of GSD0 and routine analysis of GYS2 are essential for the correct diagnosis. 28245189 2017
CUI: C0342748
Disease: Glycogen synthase deficiency
Glycogen synthase deficiency 		0.050 GeneticVariation disease BEFREE To understand the frequency of GSD0 in patients presenting with ketotic hypoglycaemia and to report a novel mutation in the GYS2 gene. 23426827 2012
CUI: C0342748
Disease: Glycogen synthase deficiency
Glycogen synthase deficiency 		0.050 GeneticVariation disease BEFREE A novel mutation in the glycogen synthase 2 gene in a child with glycogen storage disease type 0. 20051115 2010
CUI: C0342748
Disease: Glycogen synthase deficiency
Glycogen synthase deficiency 		0.050 GeneticVariation disease BEFREE To investigate whether mutations in the liver GS gene (GYS2) on chromosome 12p12.2 were involved in GSD-0, we determined the exon-intron structure of the GYS2 gene and examined nine affected children from five families for linkage of GSD-0 to the GYS2 gene. 9691087 1998