Pancytopenia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0030312
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Genes

244 genes associated with the disease Pancytopenia 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
ACD adrenocortical dysplasia homolog (mouse)
ADA adenosine deaminase
ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ANPEP alanyl (membrane) aminopeptidase
ARR3 arrestin 3, retinal (X-arrestin)
ASXL1 additional sex combs like transcriptional regulator 1
ATG5 autophagy related 5
ATM ATM serine/threonine kinase
ATR ATR serine/threonine kinase
ATXN1 ataxin 1
BCOR BCL6 corepressor
BCR breakpoint cluster region
BRCA1 breast cancer 1, early onset
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTK Bruton agammaglobulinemia tyrosine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
C1ORF86 chromosome 1 open reading frame 86
C6ORF25 chromosome 6 open reading frame 25
CALR calreticulin
CARTPT CART prepropeptide
CASR calcium-sensing receptor
CD1D CD1d molecule
CD34 CD34 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD48 CD48 molecule
CD59 CD59 molecule, complement regulatory protein
CDC73 cell division cycle 73
CIITA class II, major histocompatibility complex, transactivator
COG6 component of oligomeric golgi complex 6
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CPT2 carnitine palmitoyltransferase 2
CRP C-reactive protein, pentraxin-related
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CSNK1A1 casein kinase 1, alpha 1
CTC1 CTS telomere maintenance complex component 1
CUX1 cut-like homeobox 1
CXADR coxsackie virus and adenovirus receptor
DCPS decapping enzyme, scavenger
DERL1 derlin 1
DGKZ diacylglycerol kinase, zeta
DHFR dihydrofolate reductase
DKC1 dyskeratosis congenita 1, dyskerin
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
DOCK4 dedicator of cytokinesis 4
DOT1L DOT1-like histone H3K79 methyltransferase
DUT deoxyuridine triphosphatase
E4F1 E4F transcription factor 1
EFL1 elongation factor like GTPase 1
ELANE elastase, neutrophil expressed
EPO erythropoietin
ERCC6L2 excision repair cross-complementation group 6-like 2
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ETV6 ets variant 6
EXOC3L2 exocyst complex component 3-like 2
F2 coagulation factor II (thrombin)
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FARSB phenylalanyl-tRNA synthetase, beta subunit
FGF2 fibroblast growth factor 2 (basic)
FHIT fragile histidine triad
FIP1L1 factor interacting with PAPOLA and CPSF1
FLT1 fms-related tyrosine kinase 1
FLT3LG fms-related tyrosine kinase 3 ligand
FOXP3 forkhead box P3
FUS FUS RNA binding protein
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
G6PC3 glucose 6 phosphatase, catalytic, 3
G6PD glucose-6-phosphate dehydrogenase
GATA2 GATA binding protein 2
GBA glucosidase, beta, acid
GEM GTP binding protein overexpressed in skeletal muscle
GLB1 galactosidase, beta 1
GPI glucose-6-phosphate isomerase
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GSTM1 glutathione S-transferase mu 1
HAVCR2 hepatitis A virus cellular receptor 2
HDAC9 histone deacetylase 9
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HOXA11 homeobox A11
HP haptoglobin
IDS iduronate 2-sulfatase
IFNG interferon, gamma
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL11 interleukin 11
IL15 interleukin 15
IL18 interleukin 18
IL2 interleukin 2
IL3RA interleukin 3 receptor, alpha (low affinity)
IL6 interleukin 6
IRF2BP2 interferon regulatory factor 2 binding protein 2
ITCH itchy E3 ubiquitin protein ligase
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITK IL2-inducible T-cell kinase
IVD isovaleryl-CoA dehydrogenase
JAK2 Janus kinase 2
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KLRC4-KLRK1 KLRC4-KLRK1 readthrough
KLRK1 killer cell lectin-like receptor subfamily K, member 1
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LIG4 ligase IV, DNA, ATP-dependent
LIPA lipase A, lysosomal acid, cholesterol esterase
LMBRD1 LMBR1 domain containing 1
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MECOM MDS1 and EVI1 complex locus
MGMT O-6-methylguanine-DNA methyltransferase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMUT methylmalonyl-CoA mutase
MOCOS molybdenum cofactor sulfurase
MPL MPL proto-oncogene, thrombopoietin receptor
MPO myeloperoxidase
MRPS7 mitochondrial ribosomal protein S7
MSN moesin
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTX1 metaxin 1
MYH9 myosin, heavy chain 9, non-muscle
MYSM1 Myb-like, SWIRM and MPN domains 1
NABP1 nucleic acid binding protein 1
NABP2 nucleic acid binding protein 2
NHEJ1 nonhomologous end-joining factor 1
NHP2 NHP2 ribonucleoprotein
NLRC4 NLR family, CARD domain containing 4
NPM1 nucleophosmin (nucleolar phosphoprotein B23, numatrin)
NR1I3 nuclear receptor subfamily 1, group I, member 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NUMA1 nuclear mitotic apparatus protein 1
OBFC1 oligonucleotide/oligosaccharide-binding fold containing 1
OSTM1 osteopetrosis associated transmembrane protein 1
PALB2 partner and localizer of BRCA2
PARN poly(A)-specific ribonuclease
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PGM3 phosphoglucomutase 3
PML promyelocytic leukemia
POU2F1 POU class 2 homeobox 1
PRB1 proline-rich protein BstNI subfamily 1
PRF1 perforin 1 (pore forming protein)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTEN phosphatase and tensin homolog
PTGDS prostaglandin D2 synthase 21kDa (brain)
PTPRC protein tyrosine phosphatase, receptor type, C
RAB27A RAB27A, member RAS oncogene family
RAD51 RAD51 recombinase
RAD51C RAD51 paralog C
RARA retinoic acid receptor, alpha
RASA3 RAS p21 protein activator 3
RBM45 RNA binding motif protein 45
RECQL4 RecQ protein-like 4
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RHOJ ras homolog family member J
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
RNASEH2A ribonuclease H2, subunit A
ROR1 receptor tyrosine kinase-like orphan receptor 1
RPL27A ribosomal protein L27a
RPS14 ribosomal protein S14
RPS19 ribosomal protein S19
RTEL1 regulator of telomere elongation helicase 1
RUNX1 runt-related transcription factor 1
RUNX3 runt-related transcription factor 3
S100A1 S100 calcium binding protein A1
S100B S100 calcium binding protein B
SAA1 serum amyloid A1
SAA2 serum amyloid A2
SAMD9 sterile alpha motif domain containing 9
SAMD9L sterile alpha motif domain containing 9-like
SBDS Shwachman-Bodian-Diamond syndrome
SCARB2 scavenger receptor class B, member 2
SCT secretin
SF3B1 splicing factor 3b, subunit 1, 155kDa
SH2D1A SH2 domain containing 1A
SIRT1 sirtuin 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC22A1 solute carrier family 22 (organic cation transporter), member 1
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLURP1 secreted LY6/PLAUR domain containing 1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD2 SMAD family member 2
SP110 SP110 nuclear body protein
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SPSB1 splA/ryanodine receptor domain and SOCS box containing 1
SRI sorcin
SRP54 signal recognition particle 54kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STAT5B signal transducer and activator of transcription 5B
STK11 serine/threonine kinase 11
TALDO1 transaldolase 1
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TBX21 T-box 21
TBXAS1 thromboxane A synthase 1 (platelet)
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCL1A T-cell leukemia/lymphoma 1A
TCN2 transcobalamin II
TERF1 telomeric repeat binding factor (NIMA-interacting) 1
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
THPO thrombopoietin
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNF tumor necrosis factor
TNFRSF14 tumor necrosis factor receptor superfamily, member 14
TNFRSF4 tumor necrosis factor receptor superfamily, member 4
TNFRSF8 tumor necrosis factor receptor superfamily, member 8
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP53 tumor protein p53
TPMT thiopurine S-methyltransferase
TPP1 tripeptidyl peptidase I
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRIM13 tripartite motif containing 13
TSN translin
TTR transthyretin
U2AF1 U2 small nuclear RNA auxiliary factor 1
UBE2T ubiquitin-conjugating enzyme E2T
UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
VCAM1 vascular cell adhesion molecule 1
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
WRAP53 WD repeat containing, antisense to TP53
WRN Werner syndrome, RecQ helicase-like
WT1 Wilms tumor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XRCC2 X-ray repair complementing defective repair in Chinese hamster cells 2
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
ZBTB16 zinc finger and BTB domain containing 16