GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Metabolic myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270984
Disease: Metabolic myopathy
Metabolic myopathy 		0.010 GeneticVariation group BEFREE Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive metabolic myopathy with a broad clinical spectrum, ranging from infantile to late-onset presentations. 28763149 2017