GYG1, glycogenin 1, 2992

N. diseases: 52; N. variants: 11
Disease: Disorder of skeletal muscle ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1533847
Disease: Disorder of skeletal muscle
Disorder of skeletal muscle 		0.010 GeneticVariation group BEFREE Glycogen storage disease XV is caused by variants in the glycogenin-1 gene, GYG1, and presents as a predominant skeletal myopathy or cardiomyopathy. 31791869 2019