EPO, erythropoietin, 2056

N. diseases: 646; N. variants: 11
Disease: Polycythemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201051019
rs201051019
Entrez Id: 2056
Gene Symbol: EPO
EPO
CUI: C0032461
Disease:
Polycythemia 		0.010 GeneticVariation BEFREE In one out of six young individuals with polycythemia and high erythropoietin levels we found a heterozygous VHL gene mutation (430G->A;Gly144Arg). 15921386 2005