Glycogen storage disease, type II Gene Set

Dataset ClinVar 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)
External Link http://www.omim.org/entry/232300
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Genes

1 genes associated with the Glycogen storage disease, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
GAA glucosidase, alpha; acid