|Dataset||DISEASES Curated Gene-Disease Assocation Evidence Scores|
|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|
2 genes involed in the disease glycogen storage disease i from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.