Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs776948121
rs776948121
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.810 CausalMutation CLINVAR Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. 9535769

1998
dbSNP: rs776948121
rs776948121
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.810 CausalMutation CLINVAR A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). 7981676

1994
dbSNP: rs776948121
rs776948121
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation BEFREE A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). 7981676

1994
dbSNP: rs776948121
rs776948121
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.810 CausalMutation CLINVAR Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients. 22658377

2012
dbSNP: rs776948121
rs776948121
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.810 GeneticVariation CLINVAR Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. 9535769

1998
dbSNP: rs776948121
rs776948121
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		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: rs776948121
rs776948121
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.810 GeneticVariation CLINVAR A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). 7981676

1994
dbSNP: rs776948121
rs776948121
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.810 CausalMutation CLINVAR Novel GAA mutations in patients with Pompe disease. 25681614

2015
dbSNP: rs776948121
rs776948121
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		G 0.810 CausalMutation CLINVAR Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081

2009
dbSNP: rs776948121
rs776948121
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: rs757700700
rs757700700
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		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
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: rs757700700
rs757700700
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.810 CausalMutation CLINVAR Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis. 23632174

2013
dbSNP: rs757700700
rs757700700
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 GeneticVariation BEFREE 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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		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: rs757700700
rs757700700
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.810 GeneticVariation CLINVAR Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis. 23632174

2013
dbSNP: rs757700700
rs757700700
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		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: rs757700700
rs757700700
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		T 0.810 CausalMutation CLINVAR Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042

2008
dbSNP: rs757700700
rs757700700
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		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: rs757700700
rs757700700
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		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
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		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