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: rs377544304
rs377544304
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 CausalMutation CLINVAR Late-onset pompe disease in Iran: A clinical and genetic report. 27649523 2017
dbSNP: rs377544304
rs377544304
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 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: rs377544304
rs377544304
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: rs377544304
rs377544304
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 CausalMutation CLINVAR A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations. 22676651 2012
dbSNP: rs377544304
rs377544304
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 GeneticVariation CLINVAR [Clinical manifestations, course and outcome of enzyme replacement therapy in Hungarian patients with Pompe's disease]. 21920843 2011
dbSNP: rs377544304
rs377544304
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 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: rs377544304
rs377544304
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 GeneticVariation CLINVAR [Enzyme replacement therapy in a boy with infantile Pompe disease: cardiac follow-up]. 18995995 2008
dbSNP: rs377544304
rs377544304
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 GeneticVariation CLINVAR Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities. 18757064 2008
dbSNP: rs377544304
rs377544304
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 GeneticVariation CLINVAR Molecular genetic study of Pompe disease in Chinese patients in Taiwan. 10338092 1999