ENO3, enolase 3, 2027

N. diseases: 24; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918403
rs121918403
Entrez Id: 2027
Gene Symbol: ENO3
ENO3
CUI: C2752027
Disease:
Glycogen Storage Disease XIII 		0.800 GeneticVariation UNIPROT Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. 11506403 2001
dbSNP: rs121918403
rs121918403
Entrez Id: 2027
Gene Symbol: ENO3
ENO3
CUI: C2752027
Disease:
Glycogen Storage Disease XIII 		A 0.800 CausalMutation CLINVAR
dbSNP: rs4790714
rs4790714
Entrez Id: 2027;5216
Gene Symbol: ENO3;PFN1
ENO3;PFN1
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4790714
rs4790714
Entrez Id: 2027;5216
Gene Symbol: ENO3;PFN1
ENO3;PFN1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs121918404
rs121918404
Entrez Id: 2027
Gene Symbol: ENO3
ENO3
CUI: C2752027
Disease:
Glycogen Storage Disease XIII 		0.700 GeneticVariation UNIPROT Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. 11506403 2001
dbSNP: rs238238
rs238238
Entrez Id: 2027
Gene Symbol: ENO3
ENO3
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE Variants of rs238243 and rs238238 might regulate profilin1 expression by epigenetic modification and indirectly affects the susceptible threshold of HT. 28541412 2017
dbSNP: rs1350932038
rs1350932038
Entrez Id: 2027;5216
Gene Symbol: ENO3;PFN1
ENO3;PFN1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE In both transient transfections and in fibroblasts from a patient with the A20T change, we showed that this novel PFN1 mutation causes protein aggregation and the formation of insoluble high molecular weight species which is a hallmark of ALS pathology. 25499087 2015