GYG1, glycogenin 1, 2992

N. diseases: 52; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.550 GeneticVariation group BEFREE Glycogen storage disease (GSD) type XV is a rare disease caused by mutations in the GYG1 gene that codes for the core molecule of muscle glycogen, glycogenin 1. 28453664 2017
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.550 Biomarker group BEFREE Glycogenin-1 deficiency is known as a rare cause of skeletal muscle glycogen storage disease, usually without cardiomyopathy. 27718144 2017
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.550 GeneticVariation group BEFREE Pompe disease or glycogen storage disease type II is a glycogen storage disorder associated with malfunction of the acid α-glucosidase enzyme (GAA; EC.3.2.1.3) leading to intracellular aggregations of glycogenin muscles. 24976573 2014
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.550 Biomarker group BEFREE Our results indicate that either depletion of glycogenin-1 or impaired interaction with glycogen synthase underlies this new form of glycogen storage disease that differs from a previously reported patient with GYG1 mutations who showed profound glycogen depletion in skeletal muscle and accumulation of glycogenin-1. 25272951 2014
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.550 Biomarker group BEFREE Significant new developments in eukaryotic glycogen metabolism over the last decade or so include: (i) three-dimensional structures of the biosynthetic enzymes glycogenin and glycogen synthase, with associated implications for mechanism and control; (ii) analyses of several genetically engineered mice with altered glycogen metabolism that shed light on the mechanism of control; (iii) greater appreciation of the spatial aspects of glycogen metabolism, including more focus on the lysosomal degradation of glycogen; and (iv) glycogen phosphorylation and advances in the study of Lafora disease, which is emerging as a glycogen storage disease. 22248338 2012
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.550 Biomarker group CTD_human Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. 20357282 2010
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease
0.550 Biomarker group GENOMICS_ENGLAND