polycythemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
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

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

Symbol Name Standardized Value
JAK2 Janus kinase 2 3.23329
EPOR erythropoietin receptor 2.17179
CD177 CD177 molecule 2.08267
EPO erythropoietin 2.02567
MPL MPL proto-oncogene, thrombopoietin receptor 1.77902
TET2 tet methylcytosine dioxygenase 2 1.62605
THPO thrombopoietin 1.54186
NPTN neuroplastin 1.48735
JAK1 Janus kinase 1 1.46056
CD34 CD34 molecule 1.42323
IL3 interleukin 3 1.39302
NFE2 nuclear factor, erythroid 2 1.29877
ASXL1 additional sex combs like transcriptional regulator 1 1.28217
EGLN1 egl-9 family hypoxia-inducible factor 1 1.27563
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase 1.23039
EPAS1 endothelial PAS domain protein 1 1.14772
FIP1L1 factor interacting with PAPOLA and CPSF1 1.07992
TYK2 tyrosine kinase 2 1.069
SH2B3 SH2B adaptor protein 3 1.0585
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor) 1.05345
F5 coagulation factor V (proaccelerin, labile factor) 1.0206
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase 1.01976
OR1L3 olfactory receptor, family 1, subfamily L, member 3 1.01765
CT62 cancer/testis antigen 62 1.01765
ALPPL2 alkaline phosphatase, placental-like 2 1.0033
ALPP alkaline phosphatase, placental 1.00288
FTL ferritin, light polypeptide 1.00246
FTH1 ferritin, heavy polypeptide 1 1.00246
ALPL alkaline phosphatase, liver/bone/kidney 1.00203
BCAM basal cell adhesion molecule (Lutheran blood group) 0.991487
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0.988957
CALR calreticulin 0.976744
PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 0.976323
IFNA1 interferon, alpha 1 0.967502
PDGFRA platelet-derived growth factor receptor, alpha polypeptide 0.966244
BCR breakpoint cluster region 0.956614
G6PD glucose-6-phosphate dehydrogenase 0.932484
PDGFRB platelet-derived growth factor receptor, beta polypeptide 0.920911
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0.916787
JAK3 Janus kinase 3 0.915139
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 0.91061
PF4 platelet factor 4 0.863865
VWF von Willebrand factor 0.859362
SOCS3 suppressor of cytokine signaling 3 0.856497
IFNA2 interferon, alpha 2 0.854449
SCN2A sodium channel, voltage gated, type II alpha subunit 0.853221
PROS1 protein S (alpha) 0.817565
FGFR1 fibroblast growth factor receptor 1 0.773705
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 0.772887
PGK1 phosphoglycerate kinase 1 0.767576
F2 coagulation factor II (thrombin) 0.752492
PRH2 proline-rich protein HaeIII subfamily 2 0.752492
HBB hemoglobin, beta 0.746798
SOCS2 suppressor of cytokine signaling 2 0.740705
CYGB cytoglobin 0.736649
KIAA0355 KIAA0355 0.733001
SETD2 SET domain containing 2 0.71925
TFRC transferrin receptor 0.714408
IGLV1-47 immunoglobulin lambda variable 1-47 0.713198
PPP1R16B protein phosphatase 1, regulatory subunit 16B 0.694301
F3 coagulation factor III (thromboplastin, tissue factor) 0.683493
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 0.670732
GLS2 glutaminase 2 (liver, mitochondrial) 0.656441
GTF2H3 general transcription factor IIH, polypeptide 3, 34kDa 0.65565
PRH1 proline-rich protein HaeIII subfamily 1 0.643404
ENGASE endo-beta-N-acetylglucosaminidase 0.642221
TF transferrin 0.633956
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit 0.631598
ICAM4 intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) 0.622183
EZH1 enhancer of zeste 1 polycomb repressive complex 2 subunit 0.618268
CSF2 colony stimulating factor 2 (granulocyte-macrophage) 0.617877
MLLT3 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 0.614747
SOX30 SRY (sex determining region Y)-box 30 0.61162
ZNF77 zinc finger protein 77 0.609276
FLT3 fms-related tyrosine kinase 3 0.608104
PGLS 6-phosphogluconolactonase 0.607323
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 0.60186
ELN elastin 0.595623
VAV1 vav 1 guanine nucleotide exchange factor 0.595623
ALB albumin 0.588612
ZNF577 zinc finger protein 577 0.588222
KLF1 Kruppel-like factor 1 (erythroid) 0.587833
HAMP hepcidin antimicrobial peptide 0.586665
BCL2L1 BCL2-like 1 0.58433
CD63 CD63 molecule 0.574217
RBM46 RNA binding motif protein 46 0.568386
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 0.56722
THBD thrombomodulin 0.553239
CSF3R colony stimulating factor 3 receptor (granulocyte) 0.550911
GPX8 glutathione peroxidase 8 (putative) 0.550134
BPGM 2,3-bisphosphoglycerate mutase 0.547032
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha 0.545868
RARS arginyl-tRNA synthetase 0.545481
ERVW-1 endogenous retrovirus group W, member 1 0.541992
EGLN3 egl-9 family hypoxia-inducible factor 3 0.538118
PKLR pyruvate kinase, liver and RBC 0.532701
PKM pyruvate kinase, muscle 0.52729
UROS uroporphyrinogen III synthase 0.519961
RUNX1 runt-related transcription factor 1 0.51842
NAAA N-acylethanolamine acid amidase 0.50689
ACSL6 acyl-CoA synthetase long-chain family member 6 0.502292
HMGA2 high mobility group AT-hook 2 0.502292
CD36 CD36 molecule (thrombospondin receptor) 0.499997
L3MBTL1 l(3)mbt-like 1 (Drosophila) 0.498085
CDCA3 cell division cycle associated 3 0.493885
SETD1B SET domain containing 1B 0.493885
TICAM2 toll-like receptor adaptor molecule 2 0.490835
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 0.483604
SPPL2B signal peptide peptidase like 2B 0.479807
IGF1 insulin-like growth factor 1 (somatomedin C) 0.47753
CARD6 caspase recruitment domain family, member 6 0.472225
LUZP6 leucine zipper protein 6 0.469197
SLC22A17 solute carrier family 22, member 17 0.467684
TCEB1 transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) 0.466172
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 0.463527
GP1BA glycoprotein Ib (platelet), alpha polypeptide 0.454093
IMPA1 inositol(myo)-1(or 4)-monophosphatase 1 0.452962
SCARB2 scavenger receptor class B, member 2 0.450701
TCN2 transcobalamin II 0.447311
CUL2 cullin 2 0.445052
SUZ12 SUZ12 polycomb repressive complex 2 subunit 0.43753
FAIM Fas apoptotic inhibitory molecule 0.42739
MTPAP mitochondrial poly(A) polymerase 0.427015
AKT1 v-akt murine thymoma viral oncogene homolog 1 0.42364
ETV6 ets variant 6 0.42214
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 0.418019
EGLN2 egl-9 family hypoxia-inducible factor 2 0.412779
ACO1 aconitase 1, soluble 0.407172
PSMA2 proteasome (prosome, macropain) subunit, alpha type, 2 0.402692
ARPP19 cAMP-regulated phosphoprotein, 19kDa 0.397843
SCARB1 scavenger receptor class B, member 1 0.394491
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) 0.391513
DEFA4 defensin, alpha 4, corticostatin 0.389281
EPN1 epsin 1 0.384822
ALAD aminolevulinate dehydratase 0.37629
FEN1 flap structure-specific endonuclease 1 0.369628
GRB2 growth factor receptor-bound protein 2 0.369628
PTH parathyroid hormone 0.368149
PGD phosphogluconate dehydrogenase 0.36704
IKZF1 IKAROS family zinc finger 1 (Ikaros) 0.36704
PTPN9 protein tyrosine phosphatase, non-receptor type 9 0.366301
GARS glycyl-tRNA synthetase 0.365562
NXT1 nuclear transport factor 2-like export factor 1 0.365193
ZNF436 zinc finger protein 436 0.364824
F8 coagulation factor VIII, procoagulant component 0.364085
HBA2 hemoglobin, alpha 2 0.361133
ATP2C2 ATPase, Ca++ transporting, type 2C, member 2 0.359289
SELP selectin P (granule membrane protein 140kDa, antigen CD62) 0.358183
MIR190A microRNA 190a 0.355604
SLC14A1 solute carrier family 14 (urea transporter), member 1 (Kidd blood group) 0.354868
INS insulin 0.352291
CSF1 colony stimulating factor 1 (macrophage) 0.350452
HBA1 hemoglobin, alpha 1 0.33944
SLC14A2 solute carrier family 14 (urea transporter), member 2 0.339073
LTF lactotransferrin 0.339073
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa 0.33651
ZNF165 zinc finger protein 165 0.333949
REN renin 0.333949
MPO myeloperoxidase 0.333218
GYPC glycophorin C (Gerbich blood group) 0.333218
MS4A3 membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) 0.332487
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.331025
DLL1 delta-like 1 (Drosophila) 0.328469
PLG plasminogen 0.326281
TP53 tumor protein p53 0.322273
PGM1 phosphoglucomutase 1 0.321545
TSGA10 testis specific, 10 0.317909
PTPRR protein tyrosine phosphatase, receptor type, R 0.311377
FGFR1OP FGFR1 oncogene partner 0.309566
GBP2 guanylate binding protein 2, interferon-inducible 0.306672
IRAK2 interleukin-1 receptor-associated kinase 2 0.296931
NF1 neurofibromin 1 0.295851
SSBP2 single-stranded DNA binding protein 2 0.294772
FGF2 fibroblast growth factor 2 (basic) 0.294053
ACE angiotensin I converting enzyme 0.293334
ARNT aryl hydrocarbon receptor nuclear translocator 0.292975
ZFPM1 zinc finger protein, FOG family member 1 0.289744
PFKM phosphofructokinase, muscle 0.289386
CD33 CD33 molecule 0.288668
GSR glutathione reductase 0.281868
S100A10 S100 calcium binding protein A10 0.277584
TCN1 transcobalamin I (vitamin B12 binding protein, R binder family) 0.270819
TRADD TNFRSF1A-associated via death domain 0.269398
CYB5A cytochrome b5 type A (microsomal) 0.266558
GAS2 growth arrest-specific 2 0.263722
STAT1 signal transducer and activator of transcription 1, 91kDa 0.26266
HRAS Harvey rat sarcoma viral oncogene homolog 0.261599
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 0.260891
ORM2 orosomucoid 2 0.25877
PARK2 parkin RBR E3 ubiquitin protein ligase 0.257358
PAEP progestagen-associated endometrial protein 0.255946
KANK1 KN motif and ankyrin repeat domains 1 0.254536
HBD hemoglobin, delta 0.250663
NEU4 sialidase 4 0.24715
GYG1 glycogenin 1 0.242595
HCK HCK proto-oncogene, Src family tyrosine kinase 0.241895
RAB4A RAB4A, member RAS oncogene family 0.240148
RGMA repulsive guidance molecule family member a 0.237009
GATA1 GATA binding protein 1 (globin transcription factor 1) 0.237009
ALAS1 5'-aminolevulinate synthase 1 0.23666
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 0.233183
MMRN1 multimerin 1 0.231448
LYZ lysozyme 0.231102
IRS4 insulin receptor substrate 4 0.230755
JARID2 jumonji, AT rich interactive domain 2 0.230063
FPR1 formyl peptide receptor 1 0.225917
DKK3 dickkopf WNT signaling pathway inhibitor 3 0.22145
HAUS3 HAUS augmin-like complex, subunit 3 0.220081
RNF19B ring finger protein 19B 0.219057
CD164 CD164 molecule, sialomucin 0.217012
MATK megakaryocyte-associated tyrosine kinase 0.215653
PHOX2B paired-like homeobox 2b 0.210925
MST1R macrophage stimulating 1 receptor 0.210253
SRSF2 serine/arginine-rich splicing factor 2 0.208245
CYBRD1 cytochrome b reductase 1 0.207578
MPST mercaptopyruvate sulfurtransferase 0.206248
LAMA5 laminin, alpha 5 0.204923
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 0.202946
BMP10 bone morphogenetic protein 10 0.201308
FGF6 fibroblast growth factor 6 0.198709
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae) 0.192971
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 0.192344
BTG3 BTG family, member 3 0.190476
CD59 CD59 molecule, complement regulatory protein 0.188632
TGFB1 transforming growth factor, beta 1 0.181222
IGFBP1 insulin-like growth factor binding protein 1 0.178403
AGO2 argonaute RISC catalytic component 2 0.178403
ATP2A3 ATPase, Ca++ transporting, ubiquitous 0.178126
NFIB nuclear factor I/B 0.176757
SPRY4 sprouty homolog 4 (Drosophila) 0.176215
FMN2 formin 2 0.173314
SOCS1 suppressor of cytokine signaling 1 0.172291
EPRS glutamyl-prolyl-tRNA synthetase 0.170054
ANXA5 annexin A5 0.168854
LYN LYN proto-oncogene, Src family tyrosine kinase 0.168148
RXRB retinoid X receptor, beta 0.167915
CBX5 chromobox homolog 5 0.165217
RBX1 ring-box 1, E3 ubiquitin protein ligase 0.165001
MAPK14 mitogen-activated protein kinase 14 0.164571
PNN pinin, desmosome associated protein 0.164571
KITLG KIT ligand 0.162505
AR androgen receptor 0.158951
TRIM37 tripartite motif containing 37 0.158778
TCEB2 transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B) 0.158266
CD79A CD79a molecule, immunoglobulin-associated alpha 0.158266
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 0.158266
DBT dihydrolipoamide branched chain transacylase E2 0.158097
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta) 0.157765
VEGFA vascular endothelial growth factor A 0.157765
ACP2 acid phosphatase 2, lysosomal 0.14295
SIRPA signal-regulatory protein alpha 0.139812
SHFM1 split hand/foot malformation (ectrodactyly) type 1 0.138941
LDHC lactate dehydrogenase C 0.138891
ACVRL1 activin A receptor type II-like 1 0.137368
WDFY2 WD repeat and FYVE domain containing 2 0.136641
AQP1 aquaporin 1 (Colton blood group) 0.136621
RPE65 retinal pigment epithelium-specific protein 65kDa 0.135253
MLN motilin 0.134615
GSN gelsolin 0.133531
LDHA lactate dehydrogenase A 0.133148
ADM adrenomedullin 0.127178
PRM2 protamine 2 0.125357
LMO2 LIM domain only 2 (rhombotin-like 1) 0.125329
SRGN serglycin 0.125182
CDK6 cyclin-dependent kinase 6 0.125123
NUP98 nucleoporin 98kDa 0.124887
MIR26B microRNA 26b 0.124857
CHRD chordin 0.124857
ADGRG1 adhesion G protein-coupled receptor G1 0.124402
LIN9 lin-9 DREAM MuvB core complex component 0.124371
MTOR mechanistic target of rapamycin (serine/threonine kinase) 0.124091
F12 coagulation factor XII (Hageman factor) 0.123996
IGHA1 immunoglobulin heavy constant alpha 1 0.123996
CLEC11A C-type lectin domain family 11, member A 0.123776
BMP8B bone morphogenetic protein 8b 0.123744
BMPR1B bone morphogenetic protein receptor, type IB 0.123647
HDAC6 histone deacetylase 6 0.123256
HDAC9 histone deacetylase 9 0.123223
IFI27 interferon, alpha-inducible protein 27 0.122517
RBM15 RNA binding motif protein 15 0.122134
TYR tyrosinase 0.121887
BRD2 bromodomain containing 2 0.121599
E2F6 E2F transcription factor 6 0.121455
OLFM4 olfactomedin 4 0.121125
BMP3 bone morphogenetic protein 3 0.121125
MBD1 methyl-CpG binding domain protein 1 0.12079
ABL2 ABL proto-oncogene 2, non-receptor tyrosine kinase 0.120447
SPRY2 sprouty homolog 2 (Drosophila) 0.120024
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 0.118898
GUSB glucuronidase, beta 0.118652
HDAC11 histone deacetylase 11 0.118315