ENO3, enolase 3, 2027

N. diseases: 24; N. variants: 5
Disease: Glycogen Storage Disease XIII ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2752027
Disease: Glycogen Storage Disease XIII
Glycogen Storage Disease XIII 		0.700 Biomarker disease GENOMICS_ENGLAND Recurrent rhabdomyolysis due to muscle β-enolase deficiency: very rare or underestimated? 25267339 2014
CUI: C2752027
Disease: Glycogen Storage Disease XIII
Glycogen Storage Disease XIII 		0.700 GermlineCausalMutation disease ORPHANET Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. 11506403 2001
CUI: C2752027
Disease: Glycogen Storage Disease XIII
Glycogen Storage Disease XIII 		0.700 GeneticVariation disease UNIPROT Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. 11506403 2001
CUI: C2752027
Disease: Glycogen Storage Disease XIII
Glycogen Storage Disease XIII 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2752027
Disease: Glycogen Storage Disease XIII
Glycogen Storage Disease XIII 		0.700 Biomarker disease CTD_human
CUI: C2752027
Disease: Glycogen Storage Disease XIII
Glycogen Storage Disease XIII 		0.700 CausalMutation disease CLINVAR