Erythrocytosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1527405
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Genes

50 genes associated with the disease 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
ATXN2 ataxin 2
CARD14 caspase recruitment domain family, member 14
CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2
CD40 CD40 molecule, TNF receptor superfamily member 5
CDC42 cell division cycle 42
CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family)
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DLL1 delta-like 1 (Drosophila)
EGLN1 egl-9 family hypoxia-inducible factor 1
EGLN2 egl-9 family hypoxia-inducible factor 2
EGLN3 egl-9 family hypoxia-inducible factor 3
EPAS1 endothelial PAS domain protein 1
EPO erythropoietin
EPOR erythropoietin receptor
HAMP hepcidin antimicrobial peptide
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
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
IL10 interleukin 10
IL22 interleukin 22
ITGA6 integrin, alpha 6
JAK2 Janus kinase 2
MPL MPL proto-oncogene, thrombopoietin receptor
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
PDC phosducin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PKLR pyruvate kinase, liver and RBC
PPP1R12C protein phosphatase 1, regulatory subunit 12C
PPP1R13B protein phosphatase 1, regulatory subunit 13B
PSMB6 proteasome (prosome, macropain) subunit, beta type, 6
PTEN phosphatase and tensin homolog
SENP1 SUMO1/sentrin specific peptidase 1
SH2B3 SH2B adaptor protein 3
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
YY1 YY1 transcription factor