polycythemia Gene Set
Genes
14 genes associated with the polycythemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
ACVRL1
|
activin A receptor type II-like 1
|
|
CYB5R3
|
cytochrome b5 reductase 3
|
|
EGLN1
|
egl-9 family hypoxia-inducible factor 1
|
|
ENG
|
endoglin
|
|
EPAS1
|
endothelial PAS domain protein 1
|
|
FH
|
fumarate hydratase
|
|
GATA1
|
GATA binding protein 1 (globin transcription factor 1)
|
|
HBA1
|
hemoglobin, alpha 1
|
|
HBB
|
hemoglobin, beta
|
|
JAK2
|
Janus kinase 2
|
|
PKLR
|
pyruvate kinase, liver and RBC
|
|
SH2B3
|
SH2B adaptor protein 3
|
|
SLC30A10
|
solute carrier family 30, member 10
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
