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: rs886043343
rs886043343
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: rs886043343
rs886043343
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: rs886043343
rs886043343
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations. 19588081 2009
dbSNP: rs886043343
rs886043343
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. 18425781 2008
dbSNP: rs886043343
rs886043343
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 GeneticVariation CLINVAR