Polycythemia Vera Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_8997)
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Genes

26 genes associated with the Polycythemia Vera phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ARG2 arginase 2
ASXL1 additional sex combs like transcriptional regulator 1
CALR calreticulin
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
EPOR erythropoietin receptor
ERCC2 excision repair cross-complementation group 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
HFE hemochromatosis
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
JAK2 Janus kinase 2
MEFV Mediterranean fever
MPL MPL proto-oncogene, thrombopoietin receptor
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
SLC14A2 solute carrier family 14 (urea transporter), member 2
TET2 tet methylcytosine dioxygenase 2