Glycogen Storage Disease Type II Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. (Human Disease Ontology, DOID_2752)
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Genes

4 genes associated with the Glycogen Storage Disease Type II phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACTN3 actinin, alpha 3 (gene/pseudogene)
GAA glucosidase, alpha; acid
PPARA peroxisome proliferator-activated receptor alpha