|Dataset||ClinVar Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. (Human Disease Ontology, DOID_2754)|
|Downloads & Tools|
1 genes associated with the Glycogen storage disease, type VI phenotype from the curated ClinVar Gene-Phenotype Associations dataset.
|PYGL||phosphorylase, glycogen, liver|