JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Familial erythrocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.040 GeneticVariation disease BEFREE The rs182123615 JAK2 variant was described in several contexts including myeloproliferative neoplasms and congenital erythrocytosis and was supposed to be pathogenic. 27106701 2016
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.040 GeneticVariation disease BEFREE JAK2 mutations are not involved in the pathogenesis of primary congenital erythrocytosis. 17488692 2007
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.040 Biomarker 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: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis 		0.040 AlteredExpression 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