Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368438393
rs368438393
GAA
T 0.800 GeneticVariation CLINVAR Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease. 24715333

2015
dbSNP: rs368438393
rs368438393
GAA
A 0.800 CausalMutation CLINVAR Premature pubarche in children with Pompe disease. 25687635

2015
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 25173338

2014
dbSNP: rs368438393
rs368438393
GAA
A 0.800 CausalMutation CLINVAR Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy. 23787031

2013
dbSNP: rs368438393
rs368438393
GAA
A 0.800 CausalMutation CLINVAR The emerging phenotype of long-term survivors with infantile Pompe disease. 22538254

2012
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. 20080426

2010
dbSNP: rs368438393
rs368438393
GAA
A 0.800 GeneticVariation CLINVAR Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report. 20830524

2010
dbSNP: rs368438393
rs368438393
GAA
A 0.800 CausalMutation CLINVAR Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report. 20830524

2010
dbSNP: rs368438393
rs368438393
GAA
C 0.800 GeneticVariation CLINVAR The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. 19862843

2009
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009
dbSNP: rs368438393
rs368438393
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: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042

2008
dbSNP: rs368438393
rs368438393
GAA
A 0.800 CausalMutation CLINVAR Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042

2008
dbSNP: rs368438393
rs368438393
GAA
A 0.800 GeneticVariation CLINVAR Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042

2008
dbSNP: rs368438393
rs368438393
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: rs368438393
rs368438393
GAA
T 0.800 GeneticVariation CLINVAR Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. 17616415

2007
dbSNP: rs368438393
rs368438393
GAA
A 0.800 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: rs368438393
rs368438393
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: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Two clinical forms of glycogen-storage disease type II in two generations of the same family. 16433701

2006
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. 15668445

2005
dbSNP: rs368438393
rs368438393
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: rs368438393
rs368438393
GAA
A 0.800 CausalMutation CLINVAR A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. 15145338

2004
dbSNP: rs368438393
rs368438393
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: rs368438393
rs368438393
GAA
A 0.800 GeneticVariation CLINVAR A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn. 15145338

2004
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT New GAA mutations in Japanese patients with GSDII (Pompe disease). 14643388

2003