PYGL, glycogen phosphorylase L, 5836

N. diseases: 32; N. variants: 22
Disease: Glycogen Storage Disease Type III ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III 		0.010 GeneticVariation disease BEFREE The sensitivity of this test was 100% for patients with GSD Ia, GSD I non-a and GSD VI, 62% for GSD III, and 77% for GSD IX, indicating reduced sensitivity for GSD III and GSD IX, respectively. 17994282 2007