glycogen storage disease ii Gene Set

Dataset OMIM Gene-Disease 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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1 genes associated with the glycogen storage disease ii phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
GAA glucosidase, alpha; acid