Disease: Glycogen synthase deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342748
Disease: Glycogen synthase deficiency
Glycogen synthase deficiency 		0.010 GeneticVariation disease BEFREE These variants were in the genes C5orf42 (associated with Joubert syndrome and orofaciodigital syndrome) and GYS2 (associated with glycogen synthase deficiency). 29961766 2019