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: 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: rs201051019
rs201051019
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0032461
Disease:
Polycythemia
0.010 GeneticVariation BEFREE In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg). 15921386 2005
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.020 GeneticVariation BEFREE These results suggest that rs1617640 in the EPO promoter is significantly associated with PDR and ESRD. 18458324 2008
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C2316810
Disease:
Chronic kidney disease stage 5
0.020 GeneticVariation BEFREE These results suggest that rs1617640 in the EPO promoter is significantly associated with PDR and ESRD. 18458324 2008
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C1845050
Disease:
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
0.020 GeneticVariation BEFREE These results suggest that rs1617640 in the EPO promoter is significantly associated with PDR and ESRD. 18458324 2008
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 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: 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
dbSNP: rs551238
rs551238
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0011884
Disease:
Diabetic Retinopathy
0.020 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: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C3463824
Disease:
MYELODYSPLASTIC SYNDROME
0.010 GeneticVariation BEFREE These findings suggest a strong association between the rs1617640 G/G genotype and MDS. 21078205 2010
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0154830
Disease:
Proliferative diabetic retinopathy
0.010 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: C1565489
Disease:
Renal Insufficiency
0.010 GeneticVariation BEFREE Our analysis suggests that the risk allele (T) of rs1617640 plays a role in the development of renal dysfunction after cardiac surgery with CPB. 21092038 2010
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: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C2986665
Disease:
Early-Stage Breast Carcinoma
0.010 GeneticVariation BEFREE No association was found between EPO rs1617640 G>T and early-stage breast cancer susceptibility and clinical outcome (hazard ratio=1.24, 95% confidence interval=1.82-1.90, p=0.31). 22843933 2012
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE In conclusion, our findings suggest a lack of influence of EPO rs1617640 G>T on early-stage breast carcinogenesis and clinical outcome. 22843933 2012
dbSNP: rs1617640
rs1617640
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE Erythropoietin rs1617640 G allele associates with an attenuated rise of serum erythropoietin and a marked decline of hemoglobin in hepatitis C patients undergoing antiviral therapy. 25227310 2014
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