rs121918403, ENO3

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glycogen Storage Disease XIII
CUI: C2752027
Disease: Glycogen Storage Disease XIII
0.800 GeneticVariation UNIPROT Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. 11506403 2001
Glycogen Storage Disease XIII
CUI: C2752027
Disease: Glycogen Storage Disease XIII
0.800 CausalMutation CLINVAR