|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes associated with the Glycogen storage disease, type II phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|GAA||glucosidase, alpha; acid|