Disease: Chuvash erythrocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4749274
Disease: Chuvash erythrocytosis
Chuvash erythrocytosis 		0.010 GeneticVariation disease BEFREE The R200W mutation in the von Hippel-Lindau (VHL) tumor suppressor protein (pVHL) is unique in that it is not associated with tumor development, but rather with Chuvash polycythemia, a heritable disease characterized by elevated hematocrit and increased serum levels of erythropoietin and VEGF. 17992257 2007