Source: BEFREE

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.080 GeneticVariation BEFREE The JAK2 V617F mutation is responsible for the constitutive activation of the erythropoietin receptor signaling pathway in most cases of polycythemia vera (PV). 21953826

2012
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.080 Biomarker BEFREE We speculate that aberrant expression of p27, c-MYB, and EPOR may contribute to these abnormal features in PV erythropoiesis. 19264517

2009
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.080 GeneticVariation BEFREE HLA-G turns off erythropoietin receptor signaling through JAK2 and JAK2 V617F dephosphorylation: clinical relevance in polycythemia vera. 18059484

2008
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.080 GeneticVariation BEFREE Three additional JAK2 SNPs (rs10758669, rs3808850, and rs10974947) and a single EPOR SNP (rs318699) were also significantly associated with PV but not with ET or PMF. 18006699

2008
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.080 Biomarker BEFREE We excluded linkage between PV and a number of previously proposed candidate disease loci (c-mpl, EPOR, 20q, 13q, 5q, 9p). 12829587

2003
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.080 GeneticVariation BEFREE Mutation of the erythropoietin receptor has been demonstrated to cause familial polycythemia, but no mutations have been found in PV. 9121771

1997
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.080 AlteredExpression BEFREE Deregulation of this splicing system in early hematopoietic progenitors possibly explains the profound decrease in EPOR-T mRNA and consequent pathophysiology of PV. 9207443

1997
Entrez Id: 2057
Gene Symbol: EPOR
EPOR
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		0.080 Biomarker BEFREE These data suggest that the mechanisms for the development of PV do not involve structural changes of the EPO-R gene. 7819104

1994