GYG1, glycogenin 1, 2992

N. diseases: 52; N. variants: 11
Disease: Cardiomyopathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.130 AlteredExpression group BEFREE Expression of mutated glycogenin-1 in the heart is deleterious, and it leads to storage of abnormal glycogen and cardiomyopathy. 31628455 2020
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.130 GeneticVariation group BEFREE This finding might indicate that the level of p.Asp102His mutated glycogenin-1 determines if a patient will develop a cardiomyopathy. 31791869 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.130 GeneticVariation group BEFREE Three unrelated male patients aged 34 to 52 years with cardiomyopathy and abnormal glycogen storage on endomyocardial biopsy were homozygous for the missense mutation p.Asp102His in GYG1. 27718144 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.130 Biomarker group HPO