Familial Erythrocytosis Gene Set
Genes
16 genes associated with the disease Familial Erythrocytosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
ARHGEF7
|
Rho guanine nucleotide exchange factor (GEF) 7
|
|
ASCC1
|
activating signal cointegrator 1 complex subunit 1
|
|
CD40
|
CD40 molecule, TNF receptor superfamily member 5
|
|
EGLN1
|
egl-9 family hypoxia-inducible factor 1
|
|
EPAS1
|
endothelial PAS domain protein 1
|
|
EPO
|
erythropoietin
|
|
EPOR
|
erythropoietin receptor
|
|
HBB
|
hemoglobin, beta
|
|
HBG2
|
hemoglobin, gamma G
|
|
HIF1A
|
hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
|
|
HIF3A
|
hypoxia inducible factor 3, alpha subunit
|
|
JAK2
|
Janus kinase 2
|
|
NFKB1
|
nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
|
|
STAT5A
|
signal transducer and activator of transcription 5A
|
|
STAT5B
|
signal transducer and activator of transcription 5B
|
|
VHL
|
von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
|
