|Dataset||HuGE Navigator Gene-Phenotype Associations|
|Category||disease or phenotype associations|
|Description||A glycogen storage disease that has_material_basis_in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. (Human Disease Ontology, DOID_2749)|
|Downloads & Tools|
4 genes associated with the Glycogen Storage Disease Type I phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.