Glycogen Storage Disease Type I Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
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)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D005953
Similar Terms
Downloads & Tools

Genes

1 genes/proteins associated with the disease Glycogen Storage Disease Type I from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
G6PC glucose-6-phosphatase, catalytic subunit 2.88009