Polycythemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores 2025
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)
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Genes

346 genes co-occuring with the disease Polycythemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.

Symbol Name Standardized Value
EPO erythropoietin 3.449
EPAS1 endothelial PAS domain protein 1 3.208
EPOR erythropoietin receptor 3.198
EGLN1 egl-9 family hypoxia-inducible factor 1 3.151
JAK2 Janus kinase 2 2.993
EIF5B eukaryotic translation initiation factor 5B 2.69
BPGM 2,3-bisphosphoglycerate mutase 2.605
EGLN2 egl-9 family hypoxia-inducible factor 2 2.571
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 2.567
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 2.563
EGLN3 egl-9 family hypoxia-inducible factor 3 2.561
SLC30A10 solute carrier family 30, member 10 2.473
HIF3A hypoxia inducible factor 3, alpha subunit 2.387
HAMP hepcidin antimicrobial peptide 2.376
NPTN neuroplastin 2.361
ACO1 aconitase 1, soluble 2.322
ARNT aryl hydrocarbon receptor nuclear translocator 2.243
TFRC transferrin receptor 2.202
STAT5A signal transducer and activator of transcription 5A 2.139
STAT5B signal transducer and activator of transcription 5B 2.138
ELOC elongin C 2.12
SLC39A14 solute carrier family 39 (zinc transporter), member 14 2.118
HBB hemoglobin, beta 2.091
IREB2 iron-responsive element binding protein 2 2.086
THPO thrombopoietin 2.054
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 2.047
SH2B3 SH2B adaptor protein 3 2.042
F2 coagulation factor II (thrombin) 2.038
MPL MPL proto-oncogene, thrombopoietin receptor 2.038
ELOB elongin B 2.033
EDN1 endothelin 1 2.03
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase 2.028
ALB albumin 2.011
CALR calreticulin 2.005
IL3 interleukin 3 1.998
GATA1 GATA binding protein 1 (globin transcription factor 1) 1.994
INS insulin 1.975
CYBRD1 cytochrome b reductase 1 1.953
TMEM127 transmembrane protein 127 1.952
CD177 CD177 molecule 1.94
IL6 interleukin 6 1.929
VHLL von Hippel-Lindau tumor suppressor-like 1.92
CRP C-reactive protein, pentraxin-related 1.896
F3 coagulation factor III (thromboplastin, tissue factor) 1.89
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein 1.863
REN renin 1.851
CUL2 cullin 2 1.851
P4HA2 prolyl 4-hydroxylase, alpha polypeptide II 1.848
JAK1 Janus kinase 1 1.844
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip) 1.81
SLC39A8 solute carrier family 39 (zinc transporter), member 8 1.784
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 1.783
ACE angiotensin I converting enzyme 1.781
P4HA1 prolyl 4-hydroxylase, alpha polypeptide I 1.772
CD34 CD34 molecule 1.771
CSF3R colony stimulating factor 3 receptor (granulocyte) 1.745
HBA2 hemoglobin, alpha 2 1.744
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 1.743
SDHAF2 succinate dehydrogenase complex assembly factor 2 1.742
ASXL1 additional sex combs like transcriptional regulator 1 1.738
HFE hemochromatosis 1.735
HJV hemojuvelin BMP co-receptor 1.723
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 1.719
TET2 tet methylcytosine dioxygenase 2 1.719
HBA1 hemoglobin, alpha 1 1.698
BCR breakpoint cluster region 1.669
TMPRSS6 transmembrane protease, serine 6 1.667
JAK3 Janus kinase 3 1.655
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 1.652
CSH1 chorionic somatomammotropin hormone 1 (placental lactogen) 1.645
IL1B interleukin 1, beta 1.643
TFR2 transferrin receptor 2 1.641
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 1.627
ALAS2 5'-aminolevulinate synthase 2 1.627
CSH2 chorionic somatomammotropin hormone 2 1.62
GPT glutamic-pyruvate transaminase (alanine aminotransferase) 1.62
SHBG sex hormone-binding globulin 1.617
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor 1.617
AKT1 v-akt murine thymoma viral oncogene homolog 1 1.617
EMB embigin 1.613
TNF tumor necrosis factor 1.612
NF1 neurofibromin 1 1.609
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 1.603
NOS3 nitric oxide synthase 3 (endothelial cell) 1.592
ACVRL1 activin A receptor type II-like 1 1.584
MTOR mechanistic target of rapamycin (serine/threonine kinase) 1.581
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 1.575
CYB5RL cytochrome b5 reductase-like 1.57
KITLG KIT ligand 1.564
CSF2 colony stimulating factor 2 (granulocyte-macrophage) 1.562
KLK3 kallikrein-related peptidase 3 1.55
FBXL5 F-box and leucine-rich repeat protein 5 1.55
TYK2 tyrosine kinase 2 1.549
GYPA glycophorin A (MNS blood group) 1.545
VWF von Willebrand factor 1.54
TP53 tumor protein p53 1.537
CYB5R4 cytochrome b5 reductase 4 1.533
IGF1 insulin-like growth factor 1 (somatomedin C) 1.53
CYB5R3 cytochrome b5 reductase 3 1.529
IFNA1 interferon, alpha 1 1.524
FH fumarate hydratase 1.521
PIEZO1 piezo-type mechanosensitive ion channel component 1 1.52
CYB5R2 cytochrome b5 reductase 2 1.518
RET ret proto-oncogene 1.513
CYB5R1 cytochrome b5 reductase 1 1.513
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa 1.512
PRL prolactin 1.495
NFE2 nuclear factor, erythroid 2 1.494
SRSF2 serine/arginine-rich splicing factor 2 1.493
MYOM2 myomesin 2 1.491
PLAT plasminogen activator, tissue 1.484
TGM6 transglutaminase 6 1.481
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 1.48
G6PD glucose-6-phosphate dehydrogenase 1.478
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 1.477
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta 1.47
PNMT phenylethanolamine N-methyltransferase 1.468
POMC proopiomelanocortin 1.465
CYGB cytoglobin 1.463
CSDE1 cold shock domain containing E1, RNA-binding 1.456
TGFB1 transforming growth factor, beta 1 1.454
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1.449
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase) 1.448
MDH2 malate dehydrogenase 2, NAD (mitochondrial) 1.444
RBX1 ring-box 1, E3 ubiquitin protein ligase 1.437
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 1.436
CP ceruloplasmin (ferroxidase) 1.433
SPI1 Spi-1 proto-oncogene 1.428
PKM pyruvate kinase, muscle 1.428
SLC30A2 solute carrier family 30 (zinc transporter), member 2 1.424
IFNA2 interferon, alpha 2 1.421
SENP1 SUMO1/sentrin specific peptidase 1 1.421
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 1.419
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2 1.418
SLC30A1 solute carrier family 30 (zinc transporter), member 1 1.415
CD4 CD4 molecule 1.414
PTPRC protein tyrosine phosphatase, receptor type, C 1.408
LRRC63 leucine rich repeat containing 63 1.405
MATK megakaryocyte-associated tyrosine kinase 1.405
LEP leptin 1.404
CD8A CD8a molecule 1.397
HP haptoglobin 1.397
CSF3 colony stimulating factor 3 (granulocyte) 1.396
IFNG interferon, gamma 1.395
PTH parathyroid hormone 1.394
PLG plasminogen 1.392
LDHA lactate dehydrogenase A 1.391
CISH cytokine inducible SH2-containing protein 1.388
PF4 platelet factor 4 1.386
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 1.381
TCHP trichoplein, keratin filament binding 1.38
ERFE erythroferrone 1.378
ZNF205 zinc finger protein 205 1.377
SPN sialophorin 1.377
MAX MYC associated factor X 1.372
ACO2 aconitase 2, mitochondrial 1.371
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha 1.368
IFNA17 interferon, alpha 17 1.363
IL1A interleukin 1, alpha 1.362
RUNX1 runt-related transcription factor 1 1.362
SLC30A9 solute carrier family 30 (zinc transporter), member 9 1.361
HMOX1 heme oxygenase 1 1.357
STAT1 signal transducer and activator of transcription 1, 91kDa 1.357
IFNA5 interferon, alpha 5 1.356
IFNA4 interferon, alpha 4 1.353
IL10 interleukin 10 1.353
ACTB actin, beta 1.351
IFNA14 interferon, alpha 14 1.349
IFNA10 interferon, alpha 10 1.349
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1.349
IFNA6 interferon, alpha 6 1.348
ENG endoglin 1.346
IFNA13 interferon, alpha 13 1.346
H2BC5 H2B clustered histone 5 1.342
IFNA16 interferon, alpha 16 1.341
IFNA7 interferon, alpha 7 1.34
IFNA21 interferon, alpha 21 1.34
IFNA8 interferon, alpha 8 1.339
NPPB natriuretic peptide B 1.338
SOCS3 suppressor of cytokine signaling 3 1.335
BCL2L1 BCL2-like 1 1.334
IL2 interleukin 2 1.33
FLT3 fms-related tyrosine kinase 3 1.328
MB myoglobin 1.323
SST somatostatin 1.323
GATA2 GATA binding protein 2 1.32
HBE1 hemoglobin, epsilon 1 1.32
SELP selectin P (granule membrane protein 140kDa, antigen CD62) 1.32
MYC v-myc avian myelocytomatosis viral oncogene homolog 1.31
FECH ferrochelatase 1.31
ATP13A2 ATPase type 13A2 1.309
KLF1 Kruppel-like factor 1 (erythroid) 1.307
EDNRA endothelin receptor type A 1.307
CXCL8 chemokine (C-X-C motif) ligand 8 1.305
PKLR pyruvate kinase, liver and RBC 1.297
GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2 1.295
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 1.293
KDR kinase insert domain receptor 1.293
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 1.292
LTF lactotransferrin 1.286
MAML3 mastermind-like 3 (Drosophila) 1.286
SOCS1 suppressor of cytokine signaling 1 1.281
PDE5A phosphodiesterase 5A, cGMP-specific 1.277
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like 1.276
SLC30A4 solute carrier family 30 (zinc transporter), member 4 1.269
USP33 ubiquitin specific peptidase 33 1.261
PGK1 phosphoglycerate kinase 1 1.26
SRC SRC proto-oncogene, non-receptor tyrosine kinase 1.257
ZNF197 zinc finger protein 197 1.256
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1 1.256
PGF placental growth factor 1.252
ARG2 arginase 2 1.252
POLR2G polymerase (RNA) II (DNA directed) polypeptide G 1.246
SLC30A3 solute carrier family 30 (zinc transporter), member 3 1.246
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3 1.243
ANP32D acidic (leucine-rich) nuclear phosphoprotein 32 family, member D 1.243
FGR FGR proto-oncogene, Src family tyrosine kinase 1.228
PHOX2B paired-like homeobox 2b 1.219
SOCS2 suppressor of cytokine signaling 2 1.214
CHGA chromogranin A 1.214
HBG1 hemoglobin, gamma A 1.212
P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 1.208
BMP6 bone morphogenetic protein 6 1.208
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone) 1.207
PDK1 pyruvate dehydrogenase kinase, isozyme 1 1.206
PPARA peroxisome proliferator-activated receptor alpha 1.205
ISCU iron-sulfur cluster assembly enzyme 1.205
CA9 carbonic anhydrase IX 1.202
LCK LCK proto-oncogene, Src family tyrosine kinase 1.199
AR androgen receptor 1.197
FLT1 fms-related tyrosine kinase 1 1.197
ENO2 enolase 2 (gamma, neuronal) 1.191
EP300 E1A binding protein p300 1.189
CXCL12 chemokine (C-X-C motif) ligand 12 1.189
GCG glucagon 1.185
PDGFRB platelet-derived growth factor receptor, beta polypeptide 1.183
HBD hemoglobin, delta 1.182
SMAD4 SMAD family member 4 1.175
PXDNL peroxidasin-like 1.172
NPPA natriuretic peptide A 1.17
PXDN peroxidasin 1.17
SLC30A5 solute carrier family 30 (zinc transporter), member 5 1.169
CKB creatine kinase, brain 1.169
TEK TEK tyrosine kinase, endothelial 1.165
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 1.163
MAPK3 mitogen-activated protein kinase 3 1.16
LRFN2 leucine rich repeat and fibronectin type III domain containing 2 1.156
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit 1.156
CKMT1B creatine kinase, mitochondrial 1B 1.153
ARG1 arginase 1 1.153
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1 1.15
CKM creatine kinase, muscle 1.149
SOD2 superoxide dismutase 2, mitochondrial 1.147
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1 1.142
CXCR4 chemokine (C-X-C motif) receptor 4 1.139
U2AF1 U2 small nuclear RNA auxiliary factor 1 1.137
HSP90AB1 heat shock protein 90kDa alpha (cytosolic), class B member 1 1.136
EDNRB endothelin receptor type B 1.134
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 1.133
BCL2 B-cell CLL/lymphoma 2 1.132
IGF2 insulin-like growth factor 2 1.132
MYH14 myosin, heavy chain 14, non-muscle 1.13
TH tyrosine hydroxylase 1.129
MPO myeloperoxidase 1.128
EPB41 erythrocyte membrane protein band 4.1 1.126
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37 1.122
KIF1B kinesin family member 1B 1.121
EPB42 erythrocyte membrane protein band 4.2 1.121
PPARG peroxisome proliferator-activated receptor gamma 1.121
DNAH8 dynein, axonemal, heavy chain 8 1.114
GDF15 growth differentiation factor 15 1.113
SLAMF1 signaling lymphocytic activation molecule family member 1 1.112
CCL2 chemokine (C-C motif) ligand 2 1.112
GAPDH glyceraldehyde-3-phosphate dehydrogenase 1.11
OXT oxytocin/neurophysin I prepropeptide 1.11
IL11 interleukin 11 1.11
ESR1 estrogen receptor 1 1.109
GLRX5 glutaredoxin 5 1.107
HEPH hephaestin 1.105
PDC phosducin 1.105
OS9 osteosarcoma amplified 9, endoplasmic reticulum lectin 1.103
HRAS Harvey rat sarcoma viral oncogene homolog 1.102
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) 1.102
WDR86 WD repeat domain 86 1.101
FN1 fibronectin 1 1.099
HMOX2 heme oxygenase 2 1.096
PECAM1 platelet/endothelial cell adhesion molecule 1 1.09
CDH5 cadherin 5, type 2 (vascular endothelium) 1.089
IL7 interleukin 7 1.085
ADIPOQ adiponectin, C1Q and collagen domain containing 1.083
ACE2 angiotensin I converting enzyme 2 1.079
SART1 squamous cell carcinoma antigen recognized by T cells 1.076
BRINP3 bone morphogenetic protein/retinoic acid inducible neural-specific 3 1.07
PDGFB platelet-derived growth factor beta polypeptide 1.069
IL4 interleukin 4 1.067
IL5 interleukin 5 1.065
MX1 MX dynamin-like GTPase 1 1.064
LYN LYN proto-oncogene, Src family tyrosine kinase 1.063
ERVW-1 endogenous retrovirus group W, member 1 1.058
IKZF1 IKAROS family zinc finger 1 (Ikaros) 1.057
AHSP alpha hemoglobin stabilizing protein 1.056
B3GAT1 beta-1,3-glucuronyltransferase 1 1.056
F7 coagulation factor VII (serum prothrombin conversion accelerator) 1.055
RABEP2 rabaptin, RAB GTPase binding effector protein 2 1.054
FGF23 fibroblast growth factor 23 1.052
FGF4 fibroblast growth factor 4 1.051
CD19 CD19 molecule 1.045
CASP3 caspase 3, apoptosis-related cysteine peptidase 1.045
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1 1.044
PC pyruvate carboxylase 1.044
SAT2 spermidine/spermine N1-acetyltransferase family member 2 1.044
EGF epidermal growth factor 1.039
PIK3C3 phosphatidylinositol 3-kinase, catalytic subunit type 3 1.035
LCN2 lipocalin 2 1.035
FIP1L1 factor interacting with PAPOLA and CPSF1 1.035
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa 1.035
MMP9 matrix metallopeptidase 9 1.034
GPX8 glutathione peroxidase 8 (putative) 1.029
JUN jun proto-oncogene 1.029
PDK3 pyruvate dehydrogenase kinase, isozyme 3 1.028
THBD thrombomodulin 1.028
FGF5 fibroblast growth factor 5 1.028
ANGPT2 angiopoietin 2 1.025
INSR insulin receptor 1.024
CD47 CD47 molecule 1.02
GDF2 growth differentiation factor 2 1.018
FGF9 fibroblast growth factor 9 1.018
LRRC18 leucine rich repeat containing 18 1.018
PF4V1 platelet factor 4 variant 1 1.017
ALDOA aldolase A, fructose-bisphosphate 1.016
FGF2 fibroblast growth factor 2 (basic) 1.015
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5 1.015
RBM46 RNA binding motif protein 46 1.014
XDH xanthine dehydrogenase 1.012
IL7R interleukin 7 receptor 1.012
GPX7 glutathione peroxidase 7 1.01
BMP4 bone morphogenetic protein 4 1.01
FXN frataxin 1.008
SLC30A7 solute carrier family 30 (zinc transporter), member 7 1.006
FGF20 fibroblast growth factor 20 1.005
OSM oncostatin M 1.005
GPX3 glutathione peroxidase 3 1.005
GHRL ghrelin/obestatin prepropeptide 1.005
TWSG1 twisted gastrulation BMP signaling modulator 1 1.005
FGF17 fibroblast growth factor 17 1.003
SLC25A11 solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 1.001