polycythemia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Abnormally high mass or concentration of red blood cells in the blood, either due to an increase in erythropoiesis or a decrease in plasma volume. (Experimental Factor Ontology, EFO_0005804)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002872
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Genes

9 gene mutations causing the polycythemia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ANK1 ankyrin 1, erythrocytic
DCC DCC netrin 1 receptor
EGLN1 egl-9 family hypoxia-inducible factor 1
EPOR erythropoietin receptor
JAK2 Janus kinase 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase