GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Glycogen Storage Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.010 Biomarker group BEFREE Here we apply HRMA to the α-galactosidase a (GLA) and glucose-6-phosphatase-alpha (G6PC) genes for mutation detection of patients with Fabry disease (MIM 301500) and glycogen storage disease type 1A (GSD1A; MIM 232200), respectively. 24341606 2014