EPOR, erythropoietin receptor, 2057

N. diseases: 162; N. variants: 8
Disease: Erythrocytosis familial, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 Biomarker disease BEFREE Hereditary erythrocytosis is associated with high oxygen affinity hemoglobin variants (HOAs), 2,3-bisphosphoglycerate deficiency and abnormalities in EPOR and the oxygen-sensing pathway proteins PHD, HIF2α, and VHL. 29790589 2018
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 GeneticVariation disease BEFREE Direct sequencing analyses were performed on six genes associated with hereditary erythrocytosis [HBB, exon 2 and exon 3 of HBA2, VHL, EGLN1 (previously PHD2), exon 12 of EPAS1 (previously HIF2A), and exons 5-8 of EPOR]. 24482100 2014
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 Biomarker disease BEFREE This study provides a novel experimental system to study polycythaemia-inducing mutations in the EPOR, and sheds new light on underlying mechanisms of EPOR over-activation in PFCP patients. 24533580 2014
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 CausalMutation disease CLINVAR Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis. 17488692 2007
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 GeneticVariation disease BEFREE Dominant mutations in the erythropoietin receptor (EPOR) gene account for only about 15% of cases of primary congenital erythrocytosis. 17488692 2007
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 Biomarker disease BEFREE These findings suggest that both tyrosine residues Y285 and Y344 in the cytoplasmic domain of EPOR-ME may contribute to increased Epo sensitivity that is characteristic of PFCP phenotype. 15878737 2005
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 Biomarker disease GENOMICS_ENGLAND A novel mutation in the erythropoietin receptor gene is associated with familial erythrocytosis. 11929803 2002
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 GeneticVariation disease BEFREE The finding of only five disease-causing mutations in our PFCP patient pool of 43 subjects (12%) indicates that EPOR gene mutations are not the major genetic defect associated with PFCP. 11559951 2001
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 Biomarker disease BEFREE We show that cells engineered to concomitantly express the wild-type (WT) EPOR and mutant EPORs associated with FE (FE EPORs) are hypersensitive to EPO-stimulated proliferation and activation of Jak2 and Stat5. 10498627 1999
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 GeneticVariation disease BEFREE These results suggest a role for Stat5 in regulation of Epo-mediated cell growth and implicate altered kinetics of Epo-induced Jak2 and Stat5 activation in the pathogenesis of familial erythrocytosis associated with this naturally occurring EpoR gene mutation. 9923445 1999
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 GeneticVariation disease BEFREE Familial erythrocytosis, associated with high haemoglobin levels and low serum erythropoietin (Epo), has been shown to co-segregate with a sequence repeat polymorphism at the 5' region of the erythropoietin receptor (EpoR) in a large Finnish family. 9488636 1998
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 GeneticVariation disease BEFREE Mutation of the erythropoietin receptor has been demonstrated to cause familial polycythemia, but no mutations have been found in PV. 9121771 1997
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 GeneticVariation disease BEFREE Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. 9192789 1997
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 GeneticVariation disease UNIPROT Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies. 8608241 1996
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 Biomarker disease BEFREE Alterations of the EPO/EPO-R system have recently been shown to be involved in the pathogenesis of familial erythrocytosis and polycythaemia vera (PV). 7819104 1994
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 CausalMutation disease CLINVAR Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. 8506290 1993
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 GeneticVariation disease UNIPROT Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis. 8506290 1993
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 Biomarker disease CTD_human
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.800 GeneticVariation disease CLINVAR