Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907938
rs121907938
GAA
T 0.800 CausalMutation CLINVAR Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease. 28648663

2017
dbSNP: rs121907938
rs121907938
GAA
T 0.800 CausalMutation CLINVAR Muscle MRI Findings in Childhood/Adult Onset Pompe Disease Correlate with Muscle Function. 27711114

2016
dbSNP: rs121907938
rs121907938
GAA
T 0.800 CausalMutation CLINVAR Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T). 21972175

2012
dbSNP: rs121907938
rs121907938
GAA
T 0.800 CausalMutation CLINVAR Recombinant human acid alpha-glucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease. 21550241

2011
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. 20080426

2010
dbSNP: rs121907938
rs121907938
GAA
T 0.800 CausalMutation CLINVAR The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. 19862843

2009
dbSNP: rs121907938
rs121907938
GAA
T 0.800 CausalMutation CLINVAR Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009
dbSNP: rs121907938
rs121907938
GAA
T 0.800 CausalMutation 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: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042

2008
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. 18425781

2008
dbSNP: rs121907938
rs121907938
GAA
T 0.800 CausalMutation CLINVAR Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. 18505979

2008
dbSNP: rs121907938
rs121907938
GAA
T 0.800 CausalMutation CLINVAR Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. 17616415

2007
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. 17643989

2007
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Two clinical forms of glycogen-storage disease type II in two generations of the same family. 16433701

2006
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease. 16782080

2006
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. 15668445

2005
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. 14695532

2004
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease. 14972326

2004
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT New GAA mutations in Japanese patients with GSDII (Pompe disease). 14643388

2003
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT 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: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). 11738358

2002
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. 11071489

2000
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. 10737124

1998
dbSNP: rs121907938
rs121907938
GAA
0.800 GeneticVariation UNIPROT Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. 9521422

1998