Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1968740
Disease: Glycogen Storage Disease IIIB
Glycogen Storage Disease IIIB
0.100 CausalMutation disease CLINVAR Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. 20526204 2010
CUI: C1968740
Disease: Glycogen Storage Disease IIIB
Glycogen Storage Disease IIIB
0.100 CausalMutation disease CLINVAR Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. 20648714 2010
CUI: C1968740
Disease: Glycogen Storage Disease IIIB
Glycogen Storage Disease IIIB
0.100 CausalMutation disease CLINVAR Glycogen storage disease type III in the Irish population. 20490926 2010
CUI: C1968740
Disease: Glycogen Storage Disease IIIB
Glycogen Storage Disease IIIB
0.100 CausalMutation disease CLINVAR Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. 8755644 1996