GYS1, glycogen synthase 1, 2997

N. diseases: 26; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.110 Biomarker group BEFREE Children with abnormal cardiac responses to increased workloads as well as those with defined myocardial disease should therefore be tested for GYS1 deficiency. 19699667 2009
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.110 Biomarker group HPO