Aplastic Anemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. (Human Disease Ontology, DOID_12449)
External Link https://www.disgenet.org/browser/0/1/0/C0002874
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Genes

226 genes associated with the disease Aplastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACD adrenocortical dysplasia homolog (mouse)
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ANAPC2 anaphase promoting complex subunit 2
APC adenomatous polyposis coli
APLF aprataxin and PNKP like factor
AR androgen receptor
ASXL1 additional sex combs like transcriptional regulator 1
B2M beta-2-microglobulin
BCL2 B-cell CLL/lymphoma 2
BCORL1 BCL6 corepressor-like 1
BGLAP bone gamma-carboxyglutamate (gla) protein
BMP4 bone morphogenetic protein 4
BMP6 bone morphogenetic protein 6
BRCA2 breast cancer 2, early onset
BRD4 bromodomain containing 4
BTK Bruton agammaglobulinemia tyrosine kinase
CA1 carbonic anhydrase I
CAP1 CAP, adenylate cyclase-associated protein 1 (yeast)
CBLB Cbl proto-oncogene B, E3 ubiquitin protein ligase
CCL2 chemokine (C-C motif) ligand 2
CCL20 chemokine (C-C motif) ligand 20
CCR2 chemokine (C-C motif) receptor 2
CCR6 chemokine (C-C motif) receptor 6
CD164 CD164 molecule, sialomucin
CD19 CD19 molecule
CD247 CD247 molecule
CD27 CD27 molecule
CD274 CD274 molecule
CD34 CD34 molecule
CD3G CD3g molecule, gamma (CD3-TCR complex)
CD40LG CD40 ligand
CD48 CD48 molecule
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group)
CD59 CD59 molecule, complement regulatory protein
CD70 CD70 molecule
CDKN2A cyclin-dependent kinase inhibitor 2A
CDKN2D cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)
CEACAM8 carcinoembryonic antigen-related cell adhesion molecule 8
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)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR3 chemokine (C-X-C motif) receptor 3
CXCR4 chemokine (C-X-C motif) receptor 4
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DGKZ diacylglycerol kinase, zeta
DKC1 dyskeratosis congenita 1, dyskerin
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
ECI2 enoyl-CoA delta isomerase 2
EFL1 elongation factor like GTPase 1
EGF epidermal growth factor
ELANE elastase, neutrophil expressed
ETV6 ets variant 6
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
F9 coagulation factor IX
FAM69A family with sequence similarity 69, member A
FANCA Fanconi anemia, complementation group A
FANCD2 Fanconi anemia, complementation group D2
FANCG Fanconi anemia, complementation group G
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FGF1 fibroblast growth factor 1 (acidic)
FGF2 fibroblast growth factor 2 (basic)
FLT1 fms-related tyrosine kinase 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOXP3 forkhead box P3
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GATA1 GATA binding protein 1 (globin transcription factor 1)
GATA2 GATA binding protein 2
GATA3 GATA binding protein 3
GDF11 growth differentiation factor 11
GEM GTP binding protein overexpressed in skeletal muscle
GFI1 growth factor independent 1 transcription repressor
GIF gastric intrinsic factor (vitamin B synthesis)
GPI glucose-6-phosphate isomerase
GSTK1 glutathione S-transferase kappa 1
GSTM1 glutathione S-transferase mu 1
GSTP1 glutathione S-transferase pi 1
GSTT1 glutathione S-transferase theta 1
GYPA glycophorin A (MNS blood group)
GYPB glycophorin B (MNS blood group)
GYPE glycophorin E (MNS blood group)
HACD1 3-hydroxyacyl-CoA dehydratase 1
HAMP hepcidin antimicrobial peptide
HAVCR2 hepatitis A virus cellular receptor 2
HES1 hes family bHLH transcription factor 1
HFE hemochromatosis
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HOXA11 homeobox A11
HOXB4 homeobox B4
HP haptoglobin
HPGDS hematopoietic prostaglandin D synthase
ICAM1 intercellular adhesion molecule 1
ID4 inhibitor of DNA binding 4, dominant negative helix-loop-helix protein
IFNG interferon, gamma
IGH immunoglobulin heavy locus
IL10 interleukin 10
IL11 interleukin 11
IL15 interleukin 15
IL17A interleukin 17A
IL17D interleukin 17D
IL18 interleukin 18
IL1B interleukin 1, beta
IL2 interleukin 2
IL21 interleukin 21
IL23A interleukin 23, alpha subunit p19
IL23R interleukin 23 receptor
IL27 interleukin 27
IL3 interleukin 3
IL4 interleukin 4
IL6 interleukin 6
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLRC4-KLRK1 KLRC4-KLRK1 readthrough
KLRK1 killer cell lectin-like receptor subfamily K, member 1
KRT7 keratin 7, type II
KTN1 kinectin 1 (kinesin receptor)
LEP leptin
LEPR leptin receptor
LGALS9 lectin, galactoside-binding, soluble, 9
LNPEP leucyl/cystinyl aminopeptidase
MDM4 MDM4, p53 regulator
MPL MPL proto-oncogene, thrombopoietin receptor
MSC musculin
MSN moesin
MYDGF myeloid-derived growth factor
NBN nibrin
NCAM1 neural cell adhesion molecule 1
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NFE2L2 nuclear factor, erythroid 2-like 2
NHEJ1 nonhomologous end-joining factor 1
NHP2 NHP2 ribonucleoprotein
NLRP2 NLR family, pyrin domain containing 2
NOP10 NOP10 ribonucleoprotein
NOS2 nitric oxide synthase 2, inducible
NQO1 NAD(P)H dehydrogenase, quinone 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PALB2 partner and localizer of BRCA2
PDCD1 programmed cell death 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PRF1 perforin 1 (pore forming protein)
PRTN3 proteinase 3
PTGDS prostaglandin D2 synthase 21kDa (brain)
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
RAG2 recombination activating gene 2
RASA3 RAS p21 protein activator 3
RBM45 RNA binding motif protein 45
REG1A regenerating islet-derived 1 alpha
RPL17 ribosomal protein L17
RPL17-C18ORF32 RPL17-C18orf32 readthrough
RPL5 ribosomal protein L5
RPS19 ribosomal protein S19
RUNX1 runt-related transcription factor 1
S100A8 S100 calcium binding protein A8
S100A9 S100 calcium binding protein A9
SBDS Shwachman-Bodian-Diamond syndrome
SCLY selenocysteine lyase
SCT secretin
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SELPLG selectin P ligand
SERPINB6 serpin peptidase inhibitor, clade B (ovalbumin), member 6
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SF3B1 splicing factor 3b, subunit 1, 155kDa
SH2B1 SH2B adaptor protein 1
SH2D1A SH2 domain containing 1A
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SMAD4 SMAD family member 4
SMARCA1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SORBS1 sorbin and SH3 domain containing 1
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SPATA2 spermatogenesis associated 2
SPHK1 sphingosine kinase 1
SRP54 signal recognition particle 54kDa
SRP72 signal recognition particle 72kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
TAL1 T-cell acute lymphocytic leukemia 1
TBX21 T-box 21
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TERF2 telomeric repeat binding factor 2
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFR2 transferrin receptor 2
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
TGFBI transforming growth factor, beta-induced, 68kDa
THBD thrombomodulin
THPO thrombopoietin
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNF tumor necrosis factor
TNFRSF8 tumor necrosis factor receptor superfamily, member 8
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TP53 tumor protein p53
TPP1 tripeptidyl peptidase I
TRAF1 TNF receptor-associated factor 1
TRB T cell receptor beta locus
UROD uroporphyrinogen decarboxylase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
WT1 Wilms tumor 1
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZFP36L1 ZFP36 ring finger protein-like 1