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: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 GeneticVariation CLINVAR Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease. 27344650 2017
dbSNP: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 CausalMutation CLINVAR Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations. 28394184 2017
dbSNP: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.800 CausalMutation CLINVAR Swallow Prognosis and Follow-Up Protocol in Infantile Onset Pompe Disease. 27344650 2017
dbSNP: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 GeneticVariation CLINVAR Clinical and Molecular Characterization of Infantile-Onset Pompe Disease in Mainland Chinese Patients: Identification of Two Common Mutations. 28394184 2017
dbSNP: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.800 CausalMutation CLINVAR Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. 29122469 2017
dbSNP: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.800 CausalMutation CLINVAR [Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II]. 26310554 2015
dbSNP: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 CausalMutation CLINVAR [Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II]. 26310554 2015
dbSNP: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 GeneticVariation CLINVAR [Analysis of clinical features of 6 patients with infantile type glycogen storage disease type II]. 26310554 2015
dbSNP: rs398123172
rs398123172
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: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 GeneticVariation CLINVAR Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. 18425781 2008
dbSNP: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.800 CausalMutation CLINVAR Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. 18425781 2008
dbSNP: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 CausalMutation CLINVAR Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. 18425781 2008
dbSNP: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 GeneticVariation CLINVAR [Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China]. 18211760 2007
dbSNP: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		T 0.800 CausalMutation CLINVAR [Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China]. 18211760 2007
dbSNP: rs398123172
rs398123172
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.800 CausalMutation CLINVAR [Clinical and molecular genetic study on two patients of the juvenile form of Pompe disease in China]. 18211760 2007