Childhood Myelodysplastic Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C2347761
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Genes

308 genes associated with the disease Childhood Myelodysplastic Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABAT 4-aminobutyrate aminotransferase
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACSL5 acyl-CoA synthetase long-chain family member 5
ACSL6 acyl-CoA synthetase long-chain family member 6
AGFG2 ArfGAP with FG repeats 2
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
ALK anaplastic lymphoma receptor tyrosine kinase
AMACR alpha-methylacyl-CoA racemase
ANGPT2 angiopoietin 2
ANKRD26 ankyrin repeat domain 26
ANKRD28 ankyrin repeat domain 28
AP5M1 adaptor-related protein complex 5, mu 1 subunit
APAF1 apoptotic peptidase activating factor 1
AR androgen receptor
ARHGAP24 Rho GTPase activating protein 24
ARHGAP26 Rho GTPase activating protein 26
ASXL1 additional sex combs like transcriptional regulator 1
ATF7IP activating transcription factor 7 interacting protein
ATG3 autophagy related 3
ATG7 autophagy related 7
ATN1 atrophin 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
AURKA aurora kinase A
AURKB aurora kinase B
BCL2 B-cell CLL/lymphoma 2
BCL2L10 BCL2-like 10 (apoptosis facilitator)
BCOR BCL6 corepressor
BCR breakpoint cluster region
BMI1 BMI1 proto-oncogene, polycomb ring finger
BRCC3 BRCA1/BRCA2-containing complex, subunit 3
BRD4 bromodomain containing 4
CALCA calcitonin-related polypeptide alpha
CALR calreticulin
CASP5 caspase 5, apoptosis-related cysteine peptidase
CCND1 cyclin D1
CCR7 chemokine (C-C motif) receptor 7
CD14 CD14 molecule
CD34 CD34 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD38 CD38 molecule
CD44 CD44 molecule (Indian blood group)
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD59 CD59 molecule, complement regulatory protein
CD6 CD6 molecule
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CFLAR CASP8 and FADD-like apoptosis regulator
CHEK2 checkpoint kinase 2
CHGB chromogranin B
CHST9 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9
CIB2 calcium and integrin binding family member 2
CLEC12A C-type lectin domain family 12, member A
CNTNAP1 contactin associated protein 1
COLEC10 collectin sub-family member 10 (C-type lectin)
COMMD3-BMI1 COMMD3-BMI1 readthrough
CRBN cereblon
CREBBP CREB binding protein
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CSF1R colony stimulating factor 1 receptor
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CSF3R colony stimulating factor 3 receptor (granulocyte)
CSNK1A1 casein kinase 1, alpha 1
CTAG1A cancer/testis antigen 1A
CTAG1B cancer/testis antigen 1B
CTC1 CTS telomere maintenance complex component 1
CTNNA1 catenin (cadherin-associated protein), alpha 1, 102kDa
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR4 chemokine (C-X-C motif) receptor 4
CXXC4 CXXC finger protein 4
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DAB2 Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
DAPK1 death-associated protein kinase 1
DDIT3 DNA-damage-inducible transcript 3
DDX10 DEAD (Asp-Glu-Ala-Asp) box polypeptide 10
DDX41 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41
DERL1 derlin 1
DICER1 dicer 1, ribonuclease type III
DLK1 delta-like 1 homolog (Drosophila)
DLX4 distal-less homeobox 4
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DROSHA drosha, ribonuclease type III
EBF1 early B-cell factor 1
EGR1 early growth response 1
EIF4E eukaryotic translation initiation factor 4E
EPO erythropoietin
ERCC2 excision repair cross-complementation group 2
ERCC6 excision repair cross-complementation group 6
ETS1 v-ets avian erythroblastosis virus E26 oncogene homolog 1
ETV6 ets variant 6
EVPL envoplakin
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM132B family with sequence similarity 132, member B
FANCB Fanconi anemia, complementation group B
FANCD2 Fanconi anemia, complementation group D2
FASLG Fas ligand (TNF superfamily, member 6)
FBXL5 F-box and leucine-rich repeat protein 5
FECH ferrochelatase
FHIT fragile histidine triad
FHL2 four and a half LIM domains 2
FLT1 fms-related tyrosine kinase 1
FLT3 fms-related tyrosine kinase 3
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXP1 forkhead box P1
FRYL FRY-like
G6PC3 glucose 6 phosphatase, catalytic, 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GDE1 glycerophosphodiester phosphodiesterase 1
GEM GTP binding protein overexpressed in skeletal muscle
GFI1 growth factor independent 1 transcription repressor
GFI1B growth factor independent 1B transcription repressor
GH1 growth hormone 1
GLI1 GLI family zinc finger 1
GLIPR1 GLI pathogenesis-related 1
GOT1 glutamic-oxaloacetic transaminase 1, soluble
GP9 glycoprotein IX (platelet)
GPR68 G protein-coupled receptor 68
GPX3 glutathione peroxidase 3
GRAP2 GRB2-related adaptor protein 2
GSTM1 glutathione S-transferase mu 1
GSTT1 glutathione S-transferase theta 1
HAMP hepcidin antimicrobial peptide
HAVCR2 hepatitis A virus cellular receptor 2
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HDAC9 histone deacetylase 9
HFE hemochromatosis
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIPK2 homeodomain interacting protein kinase 2
HLA-A major histocompatibility complex, class I, A
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HMGB1 high mobility group box 1
HOXA9 homeobox A9
HOXD13 homeobox D13
HPGDS hematopoietic prostaglandin D synthase
HRAS Harvey rat sarcoma viral oncogene homolog
HSPA9 heat shock 70kDa protein 9 (mortalin)
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IL10 interleukin 10
IL2 interleukin 2
IL2RA interleukin 2 receptor, alpha
IL3 interleukin 3
IL3RA interleukin 3 receptor, alpha (low affinity)
IRAK1 interleukin-1 receptor-associated kinase 1
IRF1 interferon regulatory factor 1
IRS2 insulin receptor substrate 2
ISG20 interferon stimulated exonuclease gene 20kDa
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK2 Janus kinase 2
KDM6B lysine (K)-specific demethylase 6B
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KITLG KIT ligand
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LIG4 ligase IV, DNA, ATP-dependent
LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1
MAD1L1 MAD1 mitotic arrest deficient-like 1 (yeast)
MAML2 mastermind-like 2 (Drosophila)
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK8 mitogen-activated protein kinase 8
MARCHF1 membrane associated ring-CH-type finger 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MECOM MDS1 and EVI1 complex locus
MEFV Mediterranean fever
MEIS1 Meis homeobox 1
MLF1 myeloid leukemia factor 1
MLLT11 myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 11
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MNDA myeloid cell nuclear differentiation antigen
MPL MPL proto-oncogene, thrombopoietin receptor
MPO myeloperoxidase
MRPL28 mitochondrial ribosomal protein L28
MVD mevalonate (diphospho) decarboxylase
MXD1 MAX dimerization protein 1
MYB v-myb avian myeloblastosis viral oncogene homolog
MYD88 myeloid differentiation primary response 88
MYOM2 myomesin 2
NCAM1 neural cell adhesion molecule 1
NF1 neurofibromin 1
NLRP3 NLR family, pyrin domain containing 3
NME4 NME/NM23 nucleoside diphosphate kinase 4
NOP2 NOP2 nucleolar protein
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NQO1 NAD(P)H dehydrogenase, quinone 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD3 nuclear receptor binding SET domain protein 3
NUP98 nucleoporin 98kDa
NXT1 nuclear transport factor 2-like export factor 1
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
OPRK1 opioid receptor, kappa 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PARP1 poly (ADP-ribose) polymerase 1
PCBP4 poly(rC) binding protein 4
PCM1 pericentriolar material 1
PCNA proliferating cell nuclear antigen
PDCD6 programmed cell death 6
PDE4A phosphodiesterase 4A, cAMP-specific
PIAS2 protein inhibitor of activated STAT, 2
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
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
POGLUT1 protein O-glucosyltransferase 1
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PPARG peroxisome proliferator-activated receptor gamma
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PRDM2 PR domain containing 2, with ZNF domain
PSIP1 PC4 and SFRS1 interacting protein 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PURA purine-rich element binding protein A
PURB purine-rich element binding protein B
RAD51 RAD51 recombinase
RARA retinoic acid receptor, alpha
RARS1 arginyl-tRNA synthetase 1
RBM45 RNA binding motif protein 45
RGPD2 RANBP2-like and GRIP domain containing 2
RIT1 Ras-like without CAAX 1
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RPL23 ribosomal protein L23
RPS14 ribosomal protein S14
RPS19 ribosomal protein S19
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RUNX1 runt-related transcription factor 1
RUNX1T1 runt-related transcription factor 1; translocated to, 1 (cyclin D-related)
S100A8 S100 calcium binding protein A8
S100A9 S100 calcium binding protein A9
SALL4 spalt-like transcription factor 4
SBDS Shwachman-Bodian-Diamond syndrome
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCT secretin
SEMG1 semenogelin I
SETBP1 SET binding protein 1
SETD2 SET domain containing 2
SF3B1 splicing factor 3b, subunit 1, 155kDa
SFTPA1 surfactant protein A1
SIPA1 signal-induced proliferation-associated 1
SIRT1 sirtuin 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37
SLC29A1 solute carrier family 29 (equilibrative nucleoside transporter), member 1
SLC7A5 solute carrier family 7 (amino acid transporter light chain, L system), member 5
SLU7 SLU7 splicing factor homolog (S. cerevisiae)
SOCS1 suppressor of cytokine signaling 1
SOX7 SRY (sex determining region Y)-box 7
SPAG6 sperm associated antigen 6
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SRSF2 serine/arginine-rich splicing factor 2
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STMN1 stathmin 1
SUB1 SUB1 homolog (S. cerevisiae)
SUZ12 SUZ12 polycomb repressive complex 2 subunit
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TCF21 transcription factor 21
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFR2 transferrin receptor 2
TGFB1 transforming growth factor, beta 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THBD thrombomodulin
THPO thrombopoietin
THY1 Thy-1 cell surface antigen
TIE1 tyrosine kinase with immunoglobulin-like and EGF-like domains 1
TIFAB TRAF-interacting protein with forkhead-associated domain, family member B
TNF tumor necrosis factor
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a
TNFRSF10B tumor necrosis factor receptor superfamily, member 10b
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TOP2A topoisomerase (DNA) II alpha 170kDa
TP53 tumor protein p53
TP63 tumor protein p63
TP73 tumor protein p73
TPMT thiopurine S-methyltransferase
TRIB1 tribbles pseudokinase 1
TRIB2 tribbles pseudokinase 2
TRIM33 tripartite motif containing 33
TSHZ2 teashirt zinc finger homeobox 2
TWIST1 twist family bHLH transcription factor 1
U2AF1 U2 small nuclear RNA auxiliary factor 1
UBE2N ubiquitin-conjugating enzyme E2N
UROS uroporphyrinogen III synthase
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB17 zinc finger and BTB domain containing 17
ZMAT4 zinc finger, matrin-type 4
ZMYND10 zinc finger, MYND-type containing 10
ZRSR2 zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2