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: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. 27142047 2017
dbSNP: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Childhood Pompe disease: clinical spectrum and genotype in 31 patients. 27189384 2016
dbSNP: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach. 25243733 2015
dbSNP: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency. 24590251 2014
dbSNP: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 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: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease. 23000108 2012
dbSNP: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease. 18429042 2008
dbSNP: rs386834235
rs386834235
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
dbSNP: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. 16917947 2006
dbSNP: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Pompe disease diagnosis and management guideline. 16702877 2006
dbSNP: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. 14695532 2004
dbSNP: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR "Frequency of mutations for glycogen storage disease type II in different populations: the delta525T and deltaexon 18 mutations are not generally ""common"" in white populations." 9950376 1999
dbSNP: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype. 8990003 1997
dbSNP: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. 8558570 1995
dbSNP: rs386834235
rs386834235
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0017921
Disease:
Glycogen storage disease type II 		C 0.700 CausalMutation CLINVAR The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II. 7881422 1994