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: rs1555600061
rs1555600061
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease. 29122469 2017
dbSNP: rs1555600061
rs1555600061
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy. 25139343 2015
dbSNP: rs1555600061
rs1555600061
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy. 23787031 2013
dbSNP: rs1555600061
rs1555600061
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Auditory system involvement in late onset Pompe disease: a study of 20 Italian patients. 22958975 2012
dbSNP: rs1555600061
rs1555600061
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients. 22658377 2012
dbSNP: rs1555600061
rs1555600061
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. 21637107 2011
dbSNP: rs1555600061
rs1555600061
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase. 19862843 2009
dbSNP: rs1555600061
rs1555600061
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations. 17056254 2007