rs796051877, GAA

N. diseases: 11
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glycogen storage disease due to acid maltase deficiency, infantile onset
CUI: C3888924
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset
0.010 GeneticVariation BEFREE 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