Gene: GAA ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2548
Gene Symbol: GAA
GAA 		0.060 AlteredExpression phenotype BEFREE Patients with an inconclusive limb-girdle muscle weakness who presented at our neuromuscular centre between 2005 and 2015 with undiagnosed muscle biopsies were examined by dry blood spot testing (DBS) including determination of the enzyme activity of acid alpha-glucosidase (GAA). 29326002 2018
Entrez Id: 2548
Gene Symbol: GAA
GAA 		0.060 GeneticVariation phenotype BEFREE Pompe disease or glycogen storage disease type II is an autosomal recessive disorder caused by mutations in the GAA gene leading to muscle weakness. 23062590 2013
Entrez Id: 2548
Gene Symbol: GAA
GAA 		0.060 GeneticVariation phenotype BEFREE Pompe disease results from the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA), leading to accumulated glycogen in the heart and the skeletal muscles, which causes cardiomyopathy and muscle weakness. 20033064 2010
Entrez Id: 2548
Gene Symbol: GAA
GAA 		0.060 GeneticVariation phenotype BEFREE Pompe disease is a rare, progressive disease leading to skeletal muscle weakness due to deficiency of the acid alpha-glucosidase (GAA) enzyme. 19472353 2009
Entrez Id: 2548
Gene Symbol: GAA
GAA 		0.060 Biomarker phenotype BEFREE Pompe disease (glycogen storage disease type II or acid maltase deficiency) is an inherited autosomal recessive deficiency of acid alpha-glucosidase (GAA), with predominant manifestations of skeletal muscle weakness. 19588081 2009
Entrez Id: 2548
Gene Symbol: GAA
GAA 		0.060 Biomarker phenotype BEFREE Glycogen storage disease type II (GSD-II; Pompe disease) is caused by a deficiency of acid alpha-glucosidase (GAA; acid maltase) and manifests as muscle weakness, hypertrophic cardiomyopathy, and respiratory failure. 16005263 2005