Glycogen storage disease, type VI Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.omim.org/entry/232700
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Genes

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

Symbol Name
PYGL phosphorylase, glycogen, liver