Disease: Polycythemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.030 GeneticVariation disease BEFREE Ligand-induced EpoR internalization is mediated by JAK2 and p85 and is impaired by mutations responsible for primary familial and congenital polycythemia. 19336760 2009
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.030 GeneticVariation disease BEFREE Conversely, the patient with life-long erythrocytosis is more likely to suffer from congenital polycythemia and should therefore be evaluated for germline mutations that result in enhanced Epo effect (for example, Epo receptor mutations), altered intracellular oxygen sensing (for example, mutations involving the von Hippel-Lindau tumor suppressor gene) or decreased P50 (for example, high-oxygen-affinity hemoglobinopathy). 19295544 2009
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.030 Biomarker disease BEFREE Estimation of P50 is an essential initial step in the evaluation of a subject with personal and family history of polycythemia. 17952198 2007