GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940868
rs28940868
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C3888924
Disease:
Glycogen storage disease due to acid maltase deficiency, infantile onset 		0.010 GeneticVariation BEFREE p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease. 21039225 2010