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: rs786204621
rs786204621
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 GeneticVariation CLINVAR Clinical and molecular genetic study of infantile-onset Pompe disease in Chinese patients: identification of 6 novel mutations. 24269976 2014
dbSNP: rs786204621
rs786204621
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 GeneticVariation CLINVAR Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. 20080426 2010
dbSNP: rs786204621
rs786204621
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 GeneticVariation CLINVAR The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. 19862843 2009
dbSNP: rs786204621
rs786204621
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 GeneticVariation CLINVAR Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. 18458862 2008
dbSNP: rs786204621
rs786204621
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 GeneticVariation CLINVAR Molecular genetic study of Pompe disease in Chinese patients in Taiwan. 10338092 1999
dbSNP: rs786204621
rs786204621
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 GeneticVariation CLINVAR Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect. 9554747 1998