GBE1, 1,4-alpha-glucan branching enzyme 1, 2632

N. diseases: 102; N. variants: 48
Disease: Generalized glycogen storage disease of infants ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 Biomarker disease BEFREE The static glycogen storage myopathies include: GSD I or Pompe's disease (acid maltase or (-glucosidase deficiency), GSD II or Cori-Forbes disease (debranching enzyme deficiency), and GSD IV or Andersen's disease (branching enzyme deficiency). 10658172 2000