| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.380 | GeneticVariation | disease | BEFREE | Dominant mutations in the erythropoietin receptor (EPOR) gene account for only about 15% of cases of primary congenital erythrocytosis. | 17488692 | 2007 | ||||
|
0.380 | 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 | ||||
|
0.380 | 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 | ||||
|
0.380 | 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 | ||||
|
0.380 | GermlineCausalMutation | disease | ORPHANET | Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor. | 9359528 | 1997 | ||||
|
0.380 | GeneticVariation | disease | BEFREE | Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. | 9192789 | 1997 | ||||
|
0.380 | 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 | ||||
|
0.380 | GermlineCausalMutation | disease | ORPHANET | Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene. | 9192789 | 1997 | ||||
|
0.380 | GeneticVariation | disease | BEFREE | Primary familial polycythaemia associated with a novel point mutation in the erythropoietin receptor. | 9359528 | 1997 | ||||
|
0.380 | 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 |