Polycythemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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 https://www.disgenet.org/browser/0/1/0/C0032461
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Genes

77 genes associated with the disease Polycythemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACO1 aconitase 1, soluble
ACVRL1 activin A receptor type II-like 1
ALB albumin
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7
ASCC1 activating signal cointegrator 1 complex subunit 1
ASPRV1 aspartic peptidase, retroviral-like 1
ASXL1 additional sex combs like transcriptional regulator 1
BCL2L1 BCL2-like 1
BCR breakpoint cluster region
BGN biglycan
BPGM 2,3-bisphosphoglycerate mutase
CBFA2T2 core-binding factor, runt domain, alpha subunit 2; translocated to, 2
CCND1 cyclin D1
CD177 CD177 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CUL2 cullin 2
CYB5R3 cytochrome b5 reductase 3
EDN1 endothelin 1
EGFR epidermal growth factor receptor
EGLN1 egl-9 family hypoxia-inducible factor 1
EGLN2 egl-9 family hypoxia-inducible factor 2
EGLN3 egl-9 family hypoxia-inducible factor 3
ELOB elongin B
ELOC elongin C
ENG endoglin
EPAS1 endothelial PAS domain protein 1
EPO erythropoietin
EPOR erythropoietin receptor
FBN1 fibrillin 1
FH fumarate hydratase
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
G6PD glucose-6-phosphate dehydrogenase
GH1 growth hormone 1
GIF gastric intrinsic factor (vitamin B synthesis)
GYPA glycophorin A (MNS blood group)
HBA1 hemoglobin, alpha 1
HBB hemoglobin, beta
HBG2 hemoglobin, gamma G
HCK HCK proto-oncogene, Src family tyrosine kinase
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
IGF1 insulin-like growth factor 1 (somatomedin C)
JAK2 Janus kinase 2
KLK1 kallikrein 1
KLK12 kallikrein-related peptidase 12
KLK4 kallikrein-related peptidase 4
MAPK8 mitogen-activated protein kinase 8
MAPK9 mitogen-activated protein kinase 9
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MT3 metallothionein 3
MYRF myelin regulatory factor
NFE2 nuclear factor, erythroid 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NPTN neuroplastin
PDC phosducin
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
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
RBX1 ring-box 1, E3 ubiquitin protein ligase
RUNX1 runt-related transcription factor 1
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SESN2 sestrin 2
SETD2 SET domain containing 2
SLC30A10 solute carrier family 30, member 10
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SOCS1 suppressor of cytokine signaling 1
SST somatostatin
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
TCHH trichohyalin
TMEM258 transmembrane protein 258
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase