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 Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 27651169 2016
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: 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: 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: 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: 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: 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: C2675471
Disease:
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding)
A 0.700 SusceptibilityMutation CLINVAR
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: 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: 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 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 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: 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: 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: 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: 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: C0035344
Disease:
Retinopathy of Prematurity
0.010 GeneticVariation BEFREE The Erythropoietin Promoter Variant rs1617640 Is Not Associated with Severe Retinopathy of Prematurity, Independent of Treatment with Erythropoietin. 29731355 2018