Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2548
Gene Symbol: GAA
GAA
0.060 GeneticVariation group BEFREE Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease-associated variants in the acid alpha-glucosidase (GAA) gene. 31254424 2019
Entrez Id: 2548
Gene Symbol: GAA
GAA
0.060 GeneticVariation group BEFREE Glycogen storage disease type II (GSDII) is a lysosomal storage disorder caused by acid alpha-1,4-glucosidase deficiency and associated with recessive mutations in its coding gene GAA. 24158270 2014
Entrez Id: 2548
Gene Symbol: GAA
GAA
0.060 GeneticVariation group BEFREE Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-glucosidase (GAA) activity due to mutations in the GAA gene. 25036864 2014
Entrez Id: 2548
Gene Symbol: GAA
GAA
0.060 GeneticVariation group BEFREE Pompe disease is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of lysosomal acid alpha-glucosidase (GAA) activity. 20080426 2010
Entrez Id: 2548
Gene Symbol: GAA
GAA
0.060 Biomarker group BEFREE Hearing deficit occurs in several lysosomal storage disorders but has so far not been recognized as a symptom of Pompe's disease (glycogen storage disease type II). 15207257 2004
Entrez Id: 2548
Gene Symbol: GAA
GAA
0.060 GeneticVariation group BEFREE Glycogenosis type II (GSD II, Pompe disease) is an autosomal recessive lysosomal storage disease that results from a deficiency of acid alpha-glucosidase (GAA). 8575451 1995