Disease Description

UMLS CUI C0017920
UMLS Term Glycogen Storage Disease Type I
MeSH ID D005953
MeSH Term Glycogen Storage Disease Type I
Disease Classes

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Nutritional and Metabolic Diseases

Gene Symbol Description Entrez ID Uniprot ID Chromosomal Location

G6PC

glucose-6-phosphatase, catalytic subunit

2538

P35575

chr17: 42,900,797-42,913,369