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: rs764670084
rs764670084
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C3888924
Disease:
Glycogen storage disease due to acid maltase deficiency, infantile onset 		0.010 GeneticVariation BEFREE It is concluded that the novel sequence variant c.1211A>G results in full CRIM but significantly lower GAA activity, which in combination with c.1798C>T leads to infantile-onset Pompe disease. 24384324 2014