Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796051877
rs796051877
GAA
CUI: C1854301
Disease: Motor delay
Motor delay 		A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015
dbSNP: rs796051877
rs796051877
GAA
CUI: C0032285
Disease: Pneumonia
Pneumonia 		A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015
dbSNP: rs796051877
rs796051877
GAA
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		A 0.700 CausalMutation CLINVAR We report a previously undescribed association of c.1437G>A intron 9 substitution on the GAA gene with severe infantile-onset Pompe disease in a deceased proband and carrier status in four of five surviving family members. 26160551

2015
dbSNP: rs796051877
rs796051877
GAA
CUI: C0234146
Disease: Absent reflex
Absent reflex 		A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015
dbSNP: rs796051877
rs796051877
GAA
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015
dbSNP: rs796051877
rs796051877
GAA
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly 		A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015
dbSNP: rs796051877
rs796051877
GAA
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015
dbSNP: rs796051877
rs796051877
GAA
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015
dbSNP: rs796051877
rs796051877
GAA
CUI: C0013404
Disease: Dyspnea
Dyspnea 		A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015
dbSNP: rs796051877
rs796051877
GAA
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		A 0.700 CausalMutation CLINVAR c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype. 26160551

2015