GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Glycogen storage disease type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886042086
rs886042086
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.800 CausalMutation CLINVAR Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. 22644586 2012
dbSNP: rs886042086
rs886042086
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.800 CausalMutation CLINVAR Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity. 21484825 2011
dbSNP: rs886042086
rs886042086
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.800 CausalMutation CLINVAR Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. 18425781 2008
dbSNP: rs886042086
rs886042086
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		0.800 GeneticVariation UNIPROT