Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		C 0.810 GeneticVariation CLINVAR Pompe disease in Austria: clinical, genetic and epidemiological aspects. 29181627

2018
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		C 0.810 GeneticVariation CLINVAR Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. 29122469

2017
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 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: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		C 0.810 GeneticVariation CLINVAR Carrier testing for severe childhood recessive diseases by next-generation sequencing. 21228398

2011
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. 20080426

2010
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042

2008
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. 18425781

2008
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. 17643989

2007
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease. 16782080

2006
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT Two clinical forms of glycogen-storage disease type II in two generations of the same family. 16433701

2006
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. 15668445

2005
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 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: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 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: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 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: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT New GAA mutations in Japanese patients with GSDII (Pompe disease). 14643388

2003
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 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: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. 11071489

2000
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. 10737124

1998
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT Glycogen Storage Disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. 9521422

1998
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype. 8834250

1996
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation UNIPROT Identification of a de novo point mutation resulting in infantile form of Pompe's disease. 7695647

1995
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 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: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation BEFREE Sequencing of the cDNA from a cell line (GM 244) derived from a patient with Pompe disease demonstrated a T953-to-C transition that predicted a methionine-to-threonine substitution at codon 318. 1652892

1991
dbSNP: rs121907936
rs121907936
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		C 0.810 GeneticVariation CLINVAR Sequencing of the cDNA from a cell line (GM 244) derived from a patient with Pompe disease demonstrated a T953-to-C transition that predicted a methionine-to-threonine substitution at codon 318. 1652892

1991