GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. 25673129 2015
dbSNP: rs764622267
rs764622267
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment. 25673129 2015
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation. 25526786 2014
dbSNP: rs764622267
rs764622267
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation. 25526786 2014
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. 23531252 2013
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease. 23430493 2013
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 24107549 2013
dbSNP: rs764622267
rs764622267
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship. 24107549 2013
dbSNP: rs764622267
rs764622267
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease. 23430493 2013
dbSNP: rs764622267
rs764622267
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study. 23531252 2013
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. 21631931 2011
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Rapid progressive course of later-onset Pompe disease in Chinese patients. 21757382 2011
dbSNP: rs764622267
rs764622267
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. 21631931 2011
dbSNP: rs764622267
rs764622267
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Rapid progressive course of later-onset Pompe disease in Chinese patients. 21757382 2011
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. 19542901 2009
dbSNP: rs764622267
rs764622267
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. 19542901 2009
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. 18458862 2008
dbSNP: rs764622267
rs764622267
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. 18458862 2008
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. 17151339 2007
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Sibling phenotype concordance in classical infantile Pompe disease. 17853454 2007
dbSNP: rs764622267
rs764622267
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. 17151339 2007
dbSNP: rs764622267
rs764622267
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Sibling phenotype concordance in classical infantile Pompe disease. 17853454 2007
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR Pompe disease diagnosis and management guideline. 16702877 2006
dbSNP: rs386834236
rs386834236
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. 16737883 2006
dbSNP: rs764622267
rs764622267
Entrez Id: 2548
Gene Symbol: GAA
GAA
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 CausalMutation CLINVAR A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. 16737883 2006