GYG1, glycogenin 1, 2992

N. diseases: 52; N. variants: 11
Disease: cardiac symptom ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0741933
Disease: cardiac symptom
cardiac symptom 		0.010 Biomarker phenotype BEFREE Our case is consistent with the core phenotype of GYG1-related PGBM2 apart from an early onset of weakness without cardiac symptoms. 29422440 2018