Refractory Anemia With Excess Blasts Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Refractory anemia with excess blasts I and II.|A myelodysplastic syndrome characterized by the presence of 5-19% myeloblasts in the bone marrow or 2-19% blasts in the peripheral blood. It includes two categories: RAEB-1and RAEB-2. Cases with significant bone marrow reticulin fibrosis are called RAEB with fibrosis. (Experimental Factor Ontology, EFO_0003811)
External Link https://www.disgenet.org/browser/0/1/0/C1264195
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Genes

83 genes associated with the disease Refractory Anemia With Excess Blasts in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ACHE acetylcholinesterase (Yt blood group)
ACSL5 acyl-CoA synthetase long-chain family member 5
ACSL6 acyl-CoA synthetase long-chain family member 6
AKAP12 A kinase (PRKA) anchor protein 12
ALAD aminolevulinate dehydratase
ALAS2 5'-aminolevulinate synthase 2
AR androgen receptor
ASXL1 additional sex combs like transcriptional regulator 1
ATAD1 ATPase family, AAA domain containing 1
AURKB aurora kinase B
BCHE butyrylcholinesterase
BCL2 B-cell CLL/lymphoma 2
BCR breakpoint cluster region
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCR7 chemokine (C-C motif) receptor 7
CD34 CD34 molecule
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD59 CD59 molecule, complement regulatory protein
CDK13 cyclin-dependent kinase 13
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CHEK1 checkpoint kinase 1
CHEK2 checkpoint kinase 2
CIP2A cellular inhibitor of PP2A
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSF3 colony stimulating factor 3 (granulocyte)
CXCR4 chemokine (C-X-C motif) receptor 4
DERL1 derlin 1
DLK1 delta-like 1 homolog (Drosophila)
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
EPO erythropoietin
EPOR erythropoietin receptor
ERBB3 erb-b2 receptor tyrosine kinase 3
ETV6 ets variant 6
F2R coagulation factor II (thrombin) receptor
FANCB Fanconi anemia, complementation group B
FLT3 fms-related tyrosine kinase 3
FOXP3 forkhead box P3
FTMT ferritin mitochondrial
GATA2 GATA binding protein 2
GDF15 growth differentiation factor 15
HAMP hepcidin antimicrobial peptide
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HPSE2 heparanase 2 (inactive)
HSPA9 heat shock 70kDa protein 9 (mortalin)
IL3 interleukin 3
ILDR1 immunoglobulin-like domain containing receptor 1
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
JAK2 Janus kinase 2
KMT2A lysine (K)-specific methyltransferase 2A
LOC102724594 splicing factor U2AF 35 kDa subunit
MCL1 myeloid cell leukemia 1
MECOM MDS1 and EVI1 complex locus
MOGS mannosyl-oligosaccharide glucosidase
MPL MPL proto-oncogene, thrombopoietin receptor
NCAM1 neural cell adhesion molecule 1
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
POU2AF1 POU class 2 associating factor 1
RAP1GAP RAP1 GTPase activating protein
RARS1 arginyl-tRNA synthetase 1
RB1 retinoblastoma 1
RUNX1 runt-related transcription factor 1
SF3B1 splicing factor 3b, subunit 1, 155kDa
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37
SLC25A38 solute carrier family 25, member 38
SLU7 SLU7 splicing factor homolog (S. cerevisiae)
SPN sialophorin
SRSF2 serine/arginine-rich splicing factor 2
TET2 tet methylcytosine dioxygenase 2
THPO thrombopoietin
THY1 Thy-1 cell surface antigen
TNF tumor necrosis factor
TP53 tumor protein p53
TWIST1 twist family bHLH transcription factor 1
U2AF1 U2 small nuclear RNA auxiliary factor 1
USP42 ubiquitin specific peptidase 42
VEGFA vascular endothelial growth factor A
YBX1 Y box binding protein 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon