Refractory Anemias Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0002893
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Genes

320 genes associated with the disease Refractory Anemias in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ACHE acetylcholinesterase (Yt blood group)
ACR acrosin
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ADIPOQ adiponectin, C1Q and collagen domain containing
AFP alpha-fetoprotein
AGBL2 ATP/GTP binding protein-like 2
AIM2 absent in melanoma 2
ALAS2 5'-aminolevulinate synthase 2
ALB albumin
ALDH1A1 aldehyde dehydrogenase 1 family, member A1
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ALOX5 arachidonate 5-lipoxygenase
ALPP alkaline phosphatase, placental
APC adenomatous polyposis coli
APOE apolipoprotein E
AR androgen receptor
ASRGL1 asparaginase like 1
ASXL1 additional sex combs like transcriptional regulator 1
ATN1 atrophin 1
ATOH1 atonal homolog 1 (Drosophila)
ATRNL1 attractin-like 1
BCHE butyrylcholinesterase
BCL2 B-cell CLL/lymphoma 2
BEST1 bestrophin 1
BMP10 bone morphogenetic protein 10
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BMPR1A bone morphogenetic protein receptor, type IA
BSG basigin (Ok blood group)
BTK Bruton agammaglobulinemia tyrosine kinase
C3 complement component 3
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCL2 chemokine (C-C motif) ligand 2
CCL27 chemokine (C-C motif) ligand 27
CCND1 cyclin D1
CCR6 chemokine (C-C motif) receptor 6
CCR7 chemokine (C-C motif) receptor 7
CD14 CD14 molecule
CD226 CD226 molecule
CD34 CD34 molecule
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD59 CD59 molecule, complement regulatory protein
CD79B CD79b molecule, immunoglobulin-associated beta
CDC42 cell division cycle 42
CDC42EP1 CDC42 effector protein (Rho GTPase binding) 1
CDK1 cyclin-dependent kinase 1
CDK2 cyclin-dependent kinase 2
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLDN1 claudin 1
CLDN7 claudin 7
CLOCK clock circadian regulator
CNTRL centriolin
COL7A1 collagen, type VII, alpha 1
CP ceruloplasmin (ferroxidase)
CRABP1 cellular retinoic acid binding protein 1
CRABP2 cellular retinoic acid binding protein 2
CREBBP CREB binding protein
CRP C-reactive protein, pentraxin-related
CRYGD crystallin, gamma D
CSF1 colony stimulating factor 1 (macrophage)
CSF1R colony stimulating factor 1 receptor
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CTRB1 chymotrypsinogen B1
CX3CL1 chemokine (C-X3-C motif) ligand 1
CXCL13 chemokine (C-X-C motif) ligand 13
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR4 chemokine (C-X-C motif) receptor 4
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYCS cytochrome c, somatic
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP26A1 cytochrome P450, family 26, subfamily A, polypeptide 1
CYP26B1 cytochrome P450, family 26, subfamily B, polypeptide 1
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DCTN6 dynactin 6
DDX41 DEAD (Asp-Glu-Ala-Asp) box polypeptide 41
DERL1 derlin 1
DMD dystrophin
DNASE1L3 deoxyribonuclease I-like 3
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DRD2 dopamine receptor D2
EFHC2 EF-hand domain (C-terminal) containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF4G1 eukaryotic translation initiation factor 4 gamma, 1
EPAS1 endothelial PAS domain protein 1
EPHB2 EPH receptor B2
EPO erythropoietin
ESR1 estrogen receptor 1
F2R coagulation factor II (thrombin) receptor
F9 coagulation factor IX
FADD Fas (TNFRSF6)-associated via death domain
FANCB Fanconi anemia, complementation group B
FAS Fas cell surface death receptor
FGF21 fibroblast growth factor 21
FGF4 fibroblast growth factor 4
FHL1 four and a half LIM domains 1
FLT3 fms-related tyrosine kinase 3
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOSL1 FOS-like antigen 1
FOXO4 forkhead box O4
FOXP3 forkhead box P3
FTMT ferritin mitochondrial
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)
G0S2 G0/G1 switch 2
GADD45B growth arrest and DNA-damage-inducible, beta
GATA2 GATA binding protein 2
GCG glucagon
GDF15 growth differentiation factor 15
GDNF glial cell derived neurotrophic factor
GDPD5 glycerophosphodiester phosphodiesterase domain containing 5
GGH gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)
GJA1 gap junction protein, alpha 1, 43kDa
GLB1 galactosidase, beta 1
GLP1R glucagon-like peptide 1 receptor
GREM1 gremlin 1, DAN family BMP antagonist
GRIA1 glutamate receptor, ionotropic, AMPA 1
GRN granulin
GSTM1 glutathione S-transferase mu 1
GYPA glycophorin A (MNS blood group)
GYPB glycophorin B (MNS blood group)
GYPE glycophorin E (MNS blood group)
HAMP hepcidin antimicrobial peptide
HDC histidine decarboxylase
HLA-C major histocompatibility complex, class I, C
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HLA-DRB4 major histocompatibility complex, class II, DR beta 4
HOXB2 homeobox B2
HOXD4 homeobox D4
HOXD9 homeobox D9
HPSE2 heparanase 2 (inactive)
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B6 hydroxysteroid (17-beta) dehydrogenase 6
HSPA1A heat shock 70kDa protein 1A
HSPA1B heat shock 70kDa protein 1B
HSPD1 heat shock 60kDa protein 1 (chaperonin)
ID1 inhibitor of DNA binding 1, dominant negative helix-loop-helix protein
IFI27 interferon, alpha-inducible protein 27
IFNG interferon, gamma
IGFBP5 insulin-like growth factor binding protein 5
IL10 interleukin 10
IL17A interleukin 17A
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL21 interleukin 21
IL21R interleukin 21 receptor
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL2RA interleukin 2 receptor, alpha
IL3 interleukin 3
IL32 interleukin 32
IL34 interleukin 34
IL4 interleukin 4
IL5 interleukin 5
IL6 interleukin 6
IL7 interleukin 7
IL9 interleukin 9
ILDR1 immunoglobulin-like domain containing receptor 1
IRX5 iroquois homeobox 5
ISG20 interferon stimulated exonuclease gene 20kDa
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)
ITIH1 inter-alpha-trypsin inhibitor heavy chain 1
JAK2 Janus kinase 2
JUN jun proto-oncogene
JUNB jun B proto-oncogene
JUND jun D proto-oncogene
KAT2A K(lysine) acetyltransferase 2A
KIAA0430 KIAA0430
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF2 Kruppel-like factor 2
KLK3 kallikrein-related peptidase 3
KLRB1 killer cell lectin-like receptor subfamily B, member 1
KRT5 keratin 5, type II
LEP leptin
LOX lysyl oxidase
LOXL2 lysyl oxidase-like 2
LPAR1 lysophosphatidic acid receptor 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LTA lymphotoxin alpha
LTB lymphotoxin beta (TNF superfamily, member 3)
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MBL2 mannose-binding lectin (protein C) 2, soluble
MECOM MDS1 and EVI1 complex locus
MMP1 matrix metallopeptidase 1
MMP3 matrix metallopeptidase 3
MOBP myelin-associated oligodendrocyte basic protein
MPO myeloperoxidase
MSH6 mutS homolog 6
MTDH metadherin
MTX1 metaxin 1
MUC4 mucin 4, cell surface associated
MYBBP1A MYB binding protein (P160) 1a
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NAT10 N-acetyltransferase 10 (GCN5-related)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NCF1 neutrophil cytosolic factor 1
NCOA1 nuclear receptor coactivator 1
NCOA3 nuclear receptor coactivator 3
NLRP6 NLR family, pyrin domain containing 6
NOD1 nucleotide-binding oligomerization domain containing 1
NQO1 NAD(P)H dehydrogenase, quinone 1
NR2F1 nuclear receptor subfamily 2, group F, member 1
OCLN occludin
PADI4 peptidyl arginine deiminase, type IV
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PARP1 poly (ADP-ribose) polymerase 1
PCSK6 proprotein convertase subtilisin/kexin type 6
PDE4D phosphodiesterase 4D, cAMP-specific
PDLIM3 PDZ and LIM domain 3
PELP1 proline, glutamate and leucine rich protein 1
PIGR polymeric immunoglobulin receptor
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
PITX2 paired-like homeodomain 2
PKN1 protein kinase N1
PML promyelocytic leukemia
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
PPARG peroxisome proliferator-activated receptor gamma
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PRAM1 PML-RARA regulated adaptor molecule 1
PROP1 PROP paired-like homeobox 1
PRTN3 proteinase 3
PSEN1 presenilin 1
PSMD9 proteasome (prosome, macropain) 26S subunit, non-ATPase, 9
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAB40B RAB40B, member RAS oncogene family
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RARA retinoic acid receptor, alpha
RARG retinoic acid receptor, gamma
RARS1 arginyl-tRNA synthetase 1
RASL12 RAS-like, family 12
RB1 retinoblastoma 1
RBM45 RNA binding motif protein 45
RBP2 retinol binding protein 2, cellular
REG1A regenerating islet-derived 1 alpha
RET ret proto-oncogene
RETN resistin
REXO1 REX1, RNA exonuclease 1 homolog (S. cerevisiae)
RUNX1 runt-related transcription factor 1
RXRA retinoid X receptor, alpha
S100A4 S100 calcium binding protein A4
SAMD9 sterile alpha motif domain containing 9
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SF3B1 splicing factor 3b, subunit 1, 155kDa
SHH sonic hedgehog
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLPI secretory leukocyte peptidase inhibitor
SMS spermine synthase
SOST sclerostin
SSSCA1 Sjogren syndrome/scleroderma autoantigen 1
STAT5B signal transducer and activator of transcription 5B
STC2 stanniocalcin 2
STRA6 stimulated by retinoic acid 6
TAGLN transgelin
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TBX1 T-box 1
TBX5 T-box 5
TBXAS1 thromboxane A synthase 1 (platelet)
TDGF1 teratocarcinoma-derived growth factor 1
TDGF1P3 teratocarcinoma-derived growth factor 1 pseudogene 3
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGIF1 TGFB-induced factor homeobox 1
TGM2 transglutaminase 2
THPO thrombopoietin
TICAM2 toll-like receptor adaptor molecule 2
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TMEM158 transmembrane protein 158 (gene/pseudogene)
TMPRSS6 transmembrane protease, serine 6
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TP53 tumor protein p53
TPO thyroid peroxidase
TRAF1 TNF receptor-associated factor 1
TRAF2 TNF receptor-associated factor 2
TREM1 triggering receptor expressed on myeloid cells 1
TRIM21 tripartite motif containing 21
TSLP thymic stromal lymphopoietin
TSPO translocator protein (18kDa)
TXNRD1 thioredoxin reductase 1
TYMS thymidylate synthetase
UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
USP42 ubiquitin specific peptidase 42
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VIP vasoactive intestinal peptide
XPR1 xenotropic and polytropic retrovirus receptor 1
YBX1 Y box binding protein 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB16 zinc finger and BTB domain containing 16
ZFP42 ZFP42 zinc finger protein
ZGLP1 zinc finger, GATA-like protein 1