Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747610090
rs747610090
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		A 0.700 GeneticVariation CLINVAR Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population. 28433475

2017
dbSNP: rs747610090
rs747610090
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		A 0.700 GeneticVariation CLINVAR Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders. 27363342

2017
dbSNP: rs747610090
rs747610090
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		A 0.700 GeneticVariation CLINVAR Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation. 25526786

2014
dbSNP: rs747610090
rs747610090
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		A 0.700 GeneticVariation CLINVAR Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype. 25213570

2014
dbSNP: rs747610090
rs747610090
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		A 0.700 GeneticVariation CLINVAR Three patients with glycogen storage disease type II and the mutational spectrum of GAA in Korean patients. 23884227

2013
dbSNP: rs747610090
rs747610090
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		A 0.700 GeneticVariation CLINVAR Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones. 21471980

2011
dbSNP: rs747610090
rs747610090
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		A 0.700 GeneticVariation CLINVAR Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case. 20202878

2010
dbSNP: rs747610090
rs747610090
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		A 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: rs747610090
rs747610090
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		A 0.700 GeneticVariation CLINVAR Structural aspects of therapeutic enzymes to treat metabolic disorders. 19790257

2009
dbSNP: rs747610090
rs747610090
GAA
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		A 0.700 GeneticVariation CLINVAR Two new missense mutations of GAA in late onset glycogen storage disease type II. 17092519

2006