G6PC, glucose-6-phosphatase catalytic subunit, 2538

N. diseases: 132; N. variants: 61
Disease: Glycogen Storage Disease Type VIII ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017927
Disease: Glycogen Storage Disease Type VIII
Glycogen Storage Disease Type VIII 		0.010 Biomarker disease BEFREE Of the eight human GSD types in which the enzymatic deficiency has been identified, spontaneous animal counterparts have been reported for GSD I (glucose-6-phosphatase deficiency) in the mouse, for GSD II (acid alpha-glucosidase deficiency) in the dog, in cattle and in the quail, for GSD III (debrancher enzyme deficiency) in the dog and for GSD VIII (phosphorylase kinase deficiency) in the rat and the mouse. 6408305 1983