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: rs752921215
rs752921215
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 CausalMutation CLINVAR Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease. 29451150 2018
dbSNP: rs752921215
rs752921215
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 GeneticVariation CLINVAR Skeletal muscle metabolism during prolonged exercise in Pompe disease. 28490439 2017
dbSNP: rs752921215
rs752921215
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 CausalMutation CLINVAR Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes. 25488666 2015
dbSNP: rs752921215
rs752921215
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: rs752921215
rs752921215
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 CausalMutation CLINVAR Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature. 24158270 2014
dbSNP: rs752921215
rs752921215
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 GeneticVariation CLINVAR Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease. 23430493 2013
dbSNP: rs752921215
rs752921215
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: rs752921215
rs752921215
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 GeneticVariation CLINVAR [Clinical features and acid alpha-glucosidase gene mutation in 7 Chinese patients with glycogen storage disease type II]. 24169249 2013
dbSNP: rs752921215
rs752921215
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 GeneticVariation CLINVAR Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 22081099 2012
dbSNP: rs752921215
rs752921215
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 CausalMutation CLINVAR Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. 22081099 2012
dbSNP: rs752921215
rs752921215
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 GeneticVariation CLINVAR Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants. 22644586 2012
dbSNP: rs752921215
rs752921215
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.800 GeneticVariation CLINVAR Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. 18425781 2008
dbSNP: rs752921215
rs752921215
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 CausalMutation CLINVAR Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. 16917947 2006
dbSNP: rs752921215
rs752921215
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 CausalMutation CLINVAR The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online. 10206684 1998