Gene: GAA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907936
rs121907936
GAA
C 0.810 GeneticVariation CLINVAR Pompe disease in Austria: clinical, genetic and epidemiological aspects. 29181627

2018
dbSNP: rs121907936
rs121907936
GAA
C 0.810 GeneticVariation CLINVAR Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. 29122469

2017
dbSNP: rs28940868
rs28940868
GAA
A 0.810 CausalMutation CLINVAR Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations. 28394184

2017
dbSNP: rs776948121
rs776948121
GAA
G 0.810 CausalMutation CLINVAR Novel GAA mutations in patients with Pompe disease. 25681614

2015
dbSNP: rs757700700
rs757700700
GAA
T 0.810 GeneticVariation CLINVAR Two novel mutations in acid α-glucosidase gene in two patients with Pompe disease. 25026126

2014
dbSNP: rs757700700
rs757700700
GAA
T 0.810 CausalMutation CLINVAR Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis. 23632174

2013
dbSNP: rs757700700
rs757700700
GAA
T 0.810 GeneticVariation CLINVAR Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis. 23632174

2013
dbSNP: rs757700700
rs757700700
GAA
T 0.810 CausalMutation CLINVAR Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 22081099

2012
dbSNP: rs776948121
rs776948121
GAA
G 0.810 CausalMutation CLINVAR Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients. 22658377

2012
dbSNP: rs121907936
rs121907936
GAA
C 0.810 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
dbSNP: rs28940868
rs28940868
GAA
A 0.810 CausalMutation CLINVAR Later-onset Pompe disease: early detection and early treatment initiation enabled by newborn screening. 21232767

2011
dbSNP: rs28940868
rs28940868
GAA
A 0.810 CausalMutation CLINVAR p.D645E of acid α-glucosidase is the most common mutation in thai patients with infantile-onset pompe disease. 21039225

2010
dbSNP: rs757700700
rs757700700
GAA
T 0.810 GeneticVariation CLINVAR The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. 19862843

2009
dbSNP: rs776948121
rs776948121
GAA
G 0.810 GeneticVariation CLINVAR Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009
dbSNP: rs776948121
rs776948121
GAA
G 0.810 CausalMutation CLINVAR Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009
dbSNP: rs757700700
rs757700700
GAA
T 0.810 GeneticVariation CLINVAR Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042

2008
dbSNP: rs757700700
rs757700700
GAA
T 0.810 CausalMutation CLINVAR Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042

2008
dbSNP: rs776948121
rs776948121
GAA
G 0.810 CausalMutation CLINVAR Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II. 17723315

2007
dbSNP: rs776948121
rs776948121
GAA
G 0.810 GeneticVariation CLINVAR Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II. 17723315

2007
dbSNP: rs28940868
rs28940868
GAA
A 0.810 CausalMutation CLINVAR A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. 15145338

2004
dbSNP: rs757700700
rs757700700
GAA
T 0.810 CausalMutation CLINVAR Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II. 12923862

2003
dbSNP: rs757700700
rs757700700
GAA
T 0.810 GeneticVariation CLINVAR Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II. 12923862

2003
dbSNP: rs757700700
rs757700700
GAA
T 0.810 CausalMutation CLINVAR In this study, we present four mutations found in three Japanese patients with the juvenile form of glycogen storage disease type II; three of these mutations were new (R224W, S619R, and R660H). 14643388

2003
dbSNP: rs757700700
rs757700700
GAA
T 0.810 GeneticVariation CLINVAR In this study, we present four mutations found in three Japanese patients with the juvenile form of glycogen storage disease type II; three of these mutations were new (R224W, S619R, and R660H). 14643388

2003
dbSNP: rs28940868
rs28940868
GAA
A 0.810 CausalMutation CLINVAR Molecular genetic study of Pompe disease in Chinese patients in Taiwan. 10338092

1999