GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Pneumonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796051877
rs796051877
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0032285
Disease:
Pneumonia 		A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551 2015