GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Glycogen storage disease type II ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766074609
rs766074609
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 CausalMutation CLINVAR [Juvenile Pompe disease: retrospective clinical study]. 24016645 2014
dbSNP: rs766074609
rs766074609
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		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: rs766074609
rs766074609
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 CausalMutation CLINVAR Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy. 23787031 2013
dbSNP: rs766074609
rs766074609
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 CausalMutation CLINVAR Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease. 23430493 2013
dbSNP: rs766074609
rs766074609
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 CausalMutation CLINVAR Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042 2008
dbSNP: rs766074609
rs766074609
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 CausalMutation CLINVAR Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients. 17643989 2007
dbSNP: rs766074609
rs766074609
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 CausalMutation CLINVAR 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: rs766074609
rs766074609
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 CausalMutation CLINVAR 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