Thrombocythemia, Essential Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0040028
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Genes

205 genes associated with the disease Thrombocythemia, Essential 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
ACSM3 acyl-CoA synthetase medium-chain family member 3
ADM adrenomedullin
AK6 adenylate kinase 6
AKR1C4 aldo-keto reductase family 1, member C4
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANXA5 annexin A5
APOA1 apolipoprotein A-I
AR androgen receptor
ARG2 arginase 2
ARSA arylsulfatase A
ASXL1 additional sex combs like transcriptional regulator 1
ATXN3 ataxin 3
BAK1 BCL2-antagonist/killer 1
BAX BCL2-associated X protein
BCL2 B-cell CLL/lymphoma 2
BCL2L1 BCL2-like 1
BCL2L2 BCL2-like 2
BCL2L2-PABPN1 BCL2L2-PABPN1 readthrough
BCOR BCL6 corepressor
BCR breakpoint cluster region
BDNF brain-derived neurotrophic factor
BID BH3 interacting domain death agonist
BNIP3L BCL2/adenovirus E1B 19kDa interacting protein 3-like
CALB2 calbindin 2
CALR calreticulin
CASP9 caspase 9, apoptosis-related cysteine peptidase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCND1 cyclin D1
CD14 CD14 molecule
CD177 CD177 molecule
CD34 CD34 molecule
CD63 CD63 molecule
CD69 CD69 molecule
CDH13 cadherin 13
CHEK2 checkpoint kinase 2
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CHIT1 chitinase 1 (chitotriosidase)
CISH cytokine inducible SH2-containing protein
CNTNAP1 contactin associated protein 1
COX1
CPB1 carboxypeptidase B1 (tissue)
CRP C-reactive protein, pentraxin-related
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3R colony stimulating factor 3 receptor (granulocyte)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR1 chemokine (C-X-C motif) receptor 1
CXCR2 chemokine (C-X-C motif) receptor 2
CXCR4 chemokine (C-X-C motif) receptor 4
CYGB cytoglobin
DAAM1 dishevelled associated activator of morphogenesis 1
DERL1 derlin 1
DKK1 dickkopf WNT signaling pathway inhibitor 1
DKK3 dickkopf WNT signaling pathway inhibitor 3
DLK1 delta-like 1 homolog (Drosophila)
EDN1 endothelin 1
EPO erythropoietin
EPOR erythropoietin receptor
ERCC2 excision repair cross-complementation group 2
EVPL envoplakin
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F2 coagulation factor II (thrombin)
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
FANCB Fanconi anemia, complementation group B
FASLG Fas ligand (TNF superfamily, member 6)
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FGF2 fibroblast growth factor 2 (basic)
FIP1L1 factor interacting with PAPOLA and CPSF1
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLII flightless I homolog (Drosophila)
FLT1 fms-related tyrosine kinase 1
G6PD glucose-6-phosphate dehydrogenase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF15 growth differentiation factor 15
GGT1 gamma-glutamyltransferase 1
GGTLC3 gamma-glutamyltransferase light chain 3
H2AX H2A.X variant histone
HAMP hepcidin antimicrobial peptide
HAVCR2 hepatitis A virus cellular receptor 2
HBS1L HBS1-like translational GTPase
HDAC11 histone deacetylase 11
HDAC6 histone deacetylase 6
HDAC9 histone deacetylase 9
HFE hemochromatosis
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-B major histocompatibility complex, class I, B
HMGA2 high mobility group AT-hook 2
HPSE heparanase
HSPA4 heat shock 70kDa protein 4
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFI27 interferon, alpha-inducible protein 27
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNA2 interferon, alpha 2
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IGH immunoglobulin heavy locus
IL10 interleukin 10
IL22 interleukin 22
IL3 interleukin 3
IL37 interleukin 37
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
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
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
LCN2 lipocalin 2
LDHA lactate dehydrogenase A
LDHC lactate dehydrogenase C
LGALS3 lectin, galactoside-binding, soluble, 3
LIG3 ligase III, DNA, ATP-dependent
LRPPRC leucine-rich pentatricopeptide repeat containing
MCAM melanoma cell adhesion molecule
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MFGE8 milk fat globule-EGF factor 8 protein
MLIP muscular LMNA-interacting protein
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MPL MPL proto-oncogene, thrombopoietin receptor
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTUS1 microtubule associated tumor suppressor 1
MTUS2 microtubule associated tumor suppressor candidate 2
MVD mevalonate (diphospho) decarboxylase
MYB v-myb avian myeloblastosis viral oncogene homolog
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYOM2 myomesin 2
NAAA N-acylethanolamine acid amidase
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NFE2 nuclear factor, erythroid 2
NLRP3 NLR family, pyrin domain containing 3
NOS3 nitric oxide synthase 3 (endothelial cell)
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
PAEP progestagen-associated endometrial protein
PCNA proliferating cell nuclear antigen
PDGFA platelet-derived growth factor alpha polypeptide
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PGF placental growth factor
PIAS3 protein inhibitor of activated STAT, 3
PRAM1 PML-RARA regulated adaptor molecule 1
PRB1 proline-rich protein BstNI subfamily 1
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROS1 protein S (alpha)
PTGS1 prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)
PTOV1 prostate tumor overexpressed 1
PTX3 pentraxin 3, long
QTRT1 queuine tRNA-ribosyltransferase 1
RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1
RAP1A RAP1A, member of RAS oncogene family
RARS1 arginyl-tRNA synthetase 1
REN renin
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
S100A12 S100 calcium binding protein A12
S100A8 S100 calcium binding protein A8
S100A9 S100 calcium binding protein A9
SELE selectin E
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SEPP1 selenoprotein P, plasma, 1
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SESN2 sestrin 2
SETD2 SET domain containing 2
SF3B1 splicing factor 3b, subunit 1, 155kDa
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
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
SPP1 secreted phosphoprotein 1
SRSF2 serine/arginine-rich splicing factor 2
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
TERF2IP telomeric repeat binding factor 2, interacting protein
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TGFB1 transforming growth factor, beta 1
THBS1 thrombospondin 1
THPO thrombopoietin
TLR4 toll-like receptor 4
TP53 tumor protein p53
U2AF1 U2 small nuclear RNA auxiliary factor 1
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VEGFA vascular endothelial growth factor A
WDR4 WD repeat domain 4