Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease. 23430493

2013
dbSNP: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Rapid progressive course of later-onset Pompe disease in Chinese patients. 21757382

2011
dbSNP: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease. 19542901

2009
dbSNP: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		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
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Sibling phenotype concordance in classical infantile Pompe disease. 17853454

2007
dbSNP: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. 17151339

2007
dbSNP: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. 16737883

2006
dbSNP: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Pompe disease diagnosis and management guideline. 16702877

2006
dbSNP: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Disease severity in children and adults with Pompe disease related to age and disease duration. 15985590

2005
dbSNP: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. 12897283

2003
dbSNP: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 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: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 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: rs386834236
rs386834236
GAA
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		G 0.700 CausalMutation CLINVAR Glycogen storage disease type II in Israel. 3132435

1988