Polycythemia Vera Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0032463
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Genes

273 genes associated with the disease Polycythemia Vera 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
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACKR1 atypical chemokine receptor 1 (Duffy blood group)
ACO1 aconitase 1, soluble
ACSL6 acyl-CoA synthetase long-chain family member 6
ACTN2 actinin, alpha 2
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AKR1C4 aldo-keto reductase family 1, member C4
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALAD aminolevulinate dehydratase
ALOX5 arachidonate 5-lipoxygenase
AMBP alpha-1-microglobulin/bikunin precursor
APOA1 apolipoprotein A-I
AR androgen receptor
ARG2 arginase 2
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7
ASCC1 activating signal cointegrator 1 complex subunit 1
ASXL1 additional sex combs like transcriptional regulator 1
ATN1 atrophin 1
BCAM basal cell adhesion molecule (Lutheran blood group)
BCL10 B-cell CLL/lymphoma 10
BCL2 B-cell CLL/lymphoma 2
BCL2L1 BCL2-like 1
BCL2L2 BCL2-like 2
BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough
BCR breakpoint cluster region
CALR calreticulin
CASP9 caspase 9, apoptosis-related cysteine peptidase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCR7 chemokine (C-C motif) receptor 7
CD177 CD177 molecule
CD1A CD1a molecule
CD28 CD28 molecule
CD33 CD33 molecule
CD34 CD34 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD40 CD40 molecule, TNF receptor superfamily member 5
CD47 CD47 molecule
CD63 CD63 molecule
CD68 CD68 molecule
CDKN2A cyclin-dependent kinase inhibitor 2A
CEL carboxyl ester lipase
CENPU centromere protein U
CFLAR CASP8 and FADD-like apoptosis regulator
CH25H cholesterol 25-hydroxylase
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHIT1 chitinase 1 (chitotriosidase)
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPOX coproporphyrinogen oxidase
CRP C-reactive protein, pentraxin-related
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL8 chemokine (C-X-C motif) ligand 8
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
DCTN6 dynactin 6
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DERL1 derlin 1
DKK1 dickkopf WNT signaling pathway inhibitor 1
DKK3 dickkopf WNT signaling pathway inhibitor 3
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DSG3 desmoglein 3
DST dystonin
DUSP1 dual specificity phosphatase 1
EBI3 Epstein-Barr virus induced 3
EGFR epidermal growth factor receptor
EIF2S1 eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1
ELANE elastase, neutrophil expressed
ELN elastin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
EPHB2 EPH receptor B2
EPO erythropoietin
EPOR erythropoietin receptor
ERCC2 excision repair cross-complementation group 2
ETV6 ets variant 6
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
FAM132B family with sequence similarity 132, member B
FANCB Fanconi anemia, complementation group B
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FGFR1 fibroblast growth factor receptor 1
FIP1L1 factor interacting with PAPOLA and CPSF1
FLT1 fms-related tyrosine kinase 1
FLT3 fms-related tyrosine kinase 3
G6PD glucose-6-phosphate dehydrogenase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDE1 glycerophosphodiester phosphodiesterase 1
GDF15 growth differentiation factor 15
GIF gastric intrinsic factor (vitamin B synthesis)
GSTK1 glutathione S-transferase kappa 1
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
GYPA glycophorin A (MNS blood group)
GYPB glycophorin B (MNS blood group)
GYPE glycophorin E (MNS blood group)
H2AX H2A.X variant histone
HAMP hepcidin antimicrobial peptide
HBA1 hemoglobin, alpha 1
HBB hemoglobin, beta
HBS1L HBS1-like translational GTPase
HFE hemochromatosis
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HLA-A major histocompatibility complex, class I, A
HLA-C major histocompatibility complex, class I, C
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-G major histocompatibility complex, class I, G
HMGA2 high mobility group AT-hook 2
HPGDS hematopoietic prostaglandin D synthase
HRC histidine rich calcium binding protein
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFI27 interferon, alpha-inducible protein 27
IFIH1 interferon induced with helicase C domain 1
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNA2 interferon, alpha 2
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGFBP1 insulin-like growth factor binding protein 1
IL10 interleukin 10
IL11 interleukin 11
IL18R1 interleukin 18 receptor 1
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL3 interleukin 3
IL37 interleukin 37
IL6 interleukin 6
INTU inturned planar cell polarity protein
IRAK2 interleukin-1 receptor-associated kinase 2
IRF3 interferon regulatory factor 3
ISYNA1 inositol-3-phosphate synthase 1
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK1 Janus kinase 1
JAK2 Janus kinase 2
JAK3 Janus kinase 3
JMJD1C jumonji domain containing 1C
JUNB jun B proto-oncogene
KANK1 KN motif and ankyrin repeat domains 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KLF4 Kruppel-like factor 4 (gut)
L3MBTL1 l(3)mbt-like 1 (Drosophila)
L3MBTL2 l(3)mbt-like 2 (Drosophila)
LAMA5 laminin, alpha 5
LCN2 lipocalin 2
LGALS1 lectin, galactoside-binding, soluble, 1
LGALS3 lectin, galactoside-binding, soluble, 3
LIG3 ligase III, DNA, ATP-dependent
LILRB1 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MARCKSL1 MARCKS-like 1
MAVS mitochondrial antiviral signaling protein
MCL1 myeloid cell leukemia 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECOM MDS1 and EVI1 complex locus
MET MET proto-oncogene, receptor tyrosine kinase
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MPL MPL proto-oncogene, thrombopoietin receptor
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MUC2 mucin 2, oligomeric mucus/gel-forming
MVD mevalonate (diphospho) decarboxylase
MYB v-myb avian myeloblastosis viral oncogene homolog
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYOM2 myomesin 2
NECTIN1 nectin cell adhesion molecule 1
NFE2 nuclear factor, erythroid 2
NFIB nuclear factor I/B
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PAEP progestagen-associated endometrial protein
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDIK1L PDLIM1 interacting kinase 1 like
PF4 platelet factor 4
PGF placental growth factor
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
PLAUR plasminogen activator, urokinase receptor
PPARG peroxisome proliferator-activated receptor gamma
PPIP5K1 diphosphoinositol pentakisphosphate kinase 1
PRB1 proline-rich protein BstNI subfamily 1
PRM2 protamine 2
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
PTPA protein phosphatase 2 phosphatase activator
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPN9 protein tyrosine phosphatase, non-receptor type 9
PTPRU protein tyrosine phosphatase, receptor type, U
PTX3 pentraxin 3, long
PVR poliovirus receptor
RARRES3 retinoic acid receptor responder (tazarotene induced) 3
RBM45 RNA binding motif protein 45
REG1A regenerating islet-derived 1 alpha
REN renin
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
RUNX1 runt-related transcription factor 1
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
S100A1 S100 calcium binding protein A1
S100A12 S100 calcium binding protein A12
S100A8 S100 calcium binding protein A8
S100A9 S100 calcium binding protein A9
S100B S100 calcium binding protein B
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SEPP1 selenoprotein P, plasma, 1
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETD2 SET domain containing 2
SF3B1 splicing factor 3b, subunit 1, 155kDa
SGSM3 small G protein signaling modulator 3
SH2B3 SH2B adaptor protein 3
SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group)
SLC14A2 solute carrier family 14 (urea transporter), member 2
SLC22A17 solute carrier family 22, member 17
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SMAD4 SMAD family member 4
SOAT1 sterol O-acyltransferase 1
SOCS1 suppressor of cytokine signaling 1
SOCS2 suppressor of cytokine signaling 2
SOCS3 suppressor of cytokine signaling 3
SP1 Sp1 transcription factor
SPP1 secreted phosphoprotein 1
SPRY4 sprouty homolog 4 (Drosophila)
SRSF2 serine/arginine-rich splicing factor 2
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
TAC1 tachykinin, precursor 1
TACR1 tachykinin receptor 1
TAL1 T-cell acute lymphocytic leukemia 1
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THPO thrombopoietin
TICAM1 toll-like receptor adaptor molecule 1
TICAM2 toll-like receptor adaptor molecule 2
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF14 tumor necrosis factor receptor superfamily, member 14
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TP53 tumor protein p53
TYK2 tyrosine kinase 2
U2AF1 U2 small nuclear RNA auxiliary factor 1
ULK1 unc-51 like autophagy activating kinase 1
VEGFA vascular endothelial growth factor A
VPS4A vacuolar protein sorting 4 homolog A (S. cerevisiae)
VWF von Willebrand factor
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
ZNF577 zinc finger protein 577