Glycogen Storage Disease Type I Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
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Genes

4 genes associated with the Glycogen Storage Disease Type I phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
G6PC glucose-6-phosphatase, catalytic subunit
G6PD glucose-6-phosphate dehydrogenase
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1