rs143137713, GYG1

N. diseases: 3
Disease: GLYCOGEN STORAGE DISEASE XV ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GLYCOGEN STORAGE DISEASE XV
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
0.700 GeneticVariation CLINVAR Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature. 27718144 2017
GLYCOGEN STORAGE DISEASE XV
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
0.700 GeneticVariation CLINVAR A new muscle glycogen storage disease associated with glycogenin-1 deficiency. 25272951 2014
GLYCOGEN STORAGE DISEASE XV
CUI: C3150754
Disease: GLYCOGEN STORAGE DISEASE XV
0.700 CausalMutation CLINVAR