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: rs786204561
rs786204561
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.700 GeneticVariation CLINVAR Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. 21179066 2011
dbSNP: rs786204561
rs786204561
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.700 GeneticVariation CLINVAR Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation. 17616415 2007
dbSNP: rs786204561
rs786204561
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.700 GeneticVariation CLINVAR Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). 11738358 2002
dbSNP: rs786204561
rs786204561
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.700 GeneticVariation CLINVAR Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II. 11854868 2002
dbSNP: rs786204561
rs786204561
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		A 0.700 GeneticVariation CLINVAR Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites. 8435067 1993