ENO3, enolase 3, 2027

N. diseases: 24; N. variants: 5
Disease: Myalgia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0231528
Disease: Myalgia
Myalgia 		0.110 GeneticVariation phenotype BEFREE So far, the condition has been described in only one patient with mutations in ENO3 in a compound heterozygous state who presented with exercise intolerance, post-exercise myalgia and mild hyperCKemia but no pigmenturia. 25267339 2014
CUI: C0231528
Disease: Myalgia
Myalgia 		0.110 Biomarker phenotype HPO