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: rs786204507
rs786204507
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Cessation and resuming of alglucosidase alfa in Pompe disease: a retrospective analysis. 24923245 2014
dbSNP: rs786204507
rs786204507
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. 22676651 2012
dbSNP: rs786204507
rs786204507
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Effect of enzyme therapy in juvenile patients with Pompe disease: a three-year open-label study. 20817528 2010
dbSNP: rs786204507
rs786204507
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. 18425781 2008
dbSNP: rs786204507
rs786204507
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.700 GeneticVariation CLINVAR Glycogen storage disease: clinical, biochemical, and molecular heterogeneity. 17027861 2006