Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III
1.000 GermlineCausalMutation ORPHANET A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease. 17908927

2007

Entrez Id: 178
Gene Symbol: AGL
AGL
CUI: C0017922
Disease: Glycogen Storage Disease Type III
Glycogen Storage Disease Type III
1.000 GermlineCausalMutation ORPHANET Several different mutations in the glycogen-debranching enzyme gene AGL have been found in patients with glycogen storage disease type III (GSD III) to date, but no missense mutations have been reported for GSD III, only nonsense, splicing, and deletion/insertion lesions. 10571954

1999