Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. 8401535

1993
dbSNP: rs368438393
rs368438393
GAA
0.800 GeneticVariation UNIPROT Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. 10737124

1998
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
0.800 GeneticVariation UNIPROT Identification of a de novo point mutation resulting in infantile form of Pompe's disease. 7695647

1995
dbSNP: rs368438393
rs368438393
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: rs368438393
rs368438393
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
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 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
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 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
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 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 Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype. 8834250

1996