EPO, erythropoietin, 2056

N. diseases: 646; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11976235
rs11976235
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C4693552
Disease:
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 GeneticVariation UNIPROT A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. 29514032 2018
dbSNP: rs149431976
rs149431976
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C4693552
Disease:
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 GeneticVariation UNIPROT A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. 29514032 2018
dbSNP: rs11976235
rs11976235
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C4693552
Disease:
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 GeneticVariation UNIPROT Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 27651169 2016
dbSNP: rs149431976
rs149431976
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C4693552
Disease:
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 GeneticVariation UNIPROT Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 27651169 2016
dbSNP: rs551238
rs551238
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs551238
rs551238
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0018935
Disease:
Hematocrit procedure 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs551238
rs551238
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C4528257
Disease:
Corpuscular Hemoglobin Concentration Mean 		0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
dbSNP: rs1358275550
rs1358275550
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C4693556
Disease:
DIAMOND-BLACKFAN ANEMIA-LIKE 		0.700 GeneticVariation UNIPROT
dbSNP: rs137953994
rs137953994
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C4693552
Disease:
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 GeneticVariation UNIPROT
dbSNP: rs1554393458
rs1554393458
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C4693552
Disease:
ERYTHROCYTOSIS, FAMILIAL, 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554393463
rs1554393463
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C4693552
Disease:
ERYTHROCYTOSIS, FAMILIAL, 5 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C2675471
Disease:
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding) 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs62483572
rs62483572
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C4693552
Disease:
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 GeneticVariation UNIPROT
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.040 GeneticVariation BEFREE No clear associations between the rs1617640 and rs507392 polymorphisms and diabetic retinopathy were observed. 29348855 2017
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.040 GeneticVariation BEFREE No significant differences were detected in the distributions of rs1617640 genotype or all polymorphisms' alleles between groups NDR and DR, PDR or NPDR. 25675872 2015
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.040 GeneticVariation BEFREE Of particular interest, rs1617640 (EPO) was not significantly associated with DR status, combined SDR-DN phenotype, time to SDR or time to DN (all P > 0.05). 25487307 2015
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.040 GeneticVariation BEFREE All 3 SNPs in EPO were associated with overall DR status in the combined T1DM and T2DM and T2DM alone groups (CC genotype of rs507392, P < .008; GG genotype of rs1617640, P < .008; and CC genotype of rs551238, P < .008) in the multivariate analysis. 20065225 2010
dbSNP: rs507392
rs507392
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.030 GeneticVariation BEFREE No clear associations between the rs1617640 and rs507392 polymorphisms and diabetic retinopathy were observed. 29348855 2017
dbSNP: rs507392
rs507392
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.030 GeneticVariation BEFREE Our data suggest that rs507392 and rs551238 in the erythropoietin gene probably act to lessen the risk for DR and PDR in the Chinese T2DM cohort. 25675872 2015
dbSNP: rs507392
rs507392
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.030 GeneticVariation BEFREE All 3 SNPs in EPO were associated with overall DR status in the combined T1DM and T2DM and T2DM alone groups (CC genotype of rs507392, P < .008; GG genotype of rs1617640, P < .008; and CC genotype of rs551238, P < .008) in the multivariate analysis. 20065225 2010
dbSNP: rs551238
rs551238
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0011884
Disease:
Diabetic Retinopathy 		0.020 GeneticVariation BEFREE Our data suggest that rs507392 and rs551238 in the erythropoietin gene probably act to lessen the risk for DR and PDR in the Chinese T2DM cohort. 25675872 2015
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0022661
Disease:
Kidney Failure, Chronic 		0.020 GeneticVariation BEFREE Recently, it was demonstrated that the T allele of SNP rs1617640 in the promoter of the erythropoetin (EPO) gene is significantly associated with proliferative diabetic retinopathy (PDR) and end-stage renal disease (ESRD) due to increased EPO expression. 21092038 2010
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C2316810
Disease:
Chronic kidney disease stage 5 		0.020 GeneticVariation BEFREE Recently, it was demonstrated that the T allele of SNP rs1617640 in the promoter of the erythropoetin (EPO) gene is significantly associated with proliferative diabetic retinopathy (PDR) and end-stage renal disease (ESRD) due to increased EPO expression. 21092038 2010
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C1845050
Disease:
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		0.020 GeneticVariation BEFREE Recently, it was demonstrated that the T allele of SNP rs1617640 in the promoter of the erythropoetin (EPO) gene is significantly associated with proliferative diabetic retinopathy (PDR) and end-stage renal disease (ESRD) due to increased EPO expression. 21092038 2010