Refractory Cytopenia Of Childhood Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C2826323
Similar Terms
Downloads & Tools

Genes

246 genes associated with the disease Refractory Cytopenia Of Childhood in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCA13 ATP-binding cassette, sub-family A (ABC1), member 13
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ACVRL1 activin A receptor type II-like 1
ADIPOQ adiponectin, C1Q and collagen domain containing
ADIPOR1 adiponectin receptor 1
ADIPOR2 adiponectin receptor 2
AHR aryl hydrocarbon receptor
AKR1A1 aldo-keto reductase family 1, member A1 (aldehyde reductase)
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
ALK anaplastic lymphoma receptor tyrosine kinase
AMACR alpha-methylacyl-CoA racemase
ANKHD1 ankyrin repeat and KH domain containing 1
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
ANXA6 annexin A6
APH1A APH1A gamma secretase subunit
AR androgen receptor
ARC activity-regulated cytoskeleton-associated protein
ARSA arylsulfatase A
ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1
AVP arginine vasopressin
AXL AXL receptor tyrosine kinase
B2M beta-2-microglobulin
BAP1 BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)
BCL2 B-cell CLL/lymphoma 2
BGLAP bone gamma-carboxyglutamate (gla) protein
BIRC7 baculoviral IAP repeat containing 7
BNIP3 BCL2/adenovirus E1B 19kDa interacting protein 3
BSG basigin (Ok blood group)
BSND barttin CLCNK-type chloride channel accessory beta subunit
C1QBP complement component 1, q subcomponent binding protein
CA9 carbonic anhydrase IX
CALR calreticulin
CASP2 caspase 2, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CBS cystathionine-beta-synthase
CCK cholecystokinin
CD24 CD24 molecule
CD274 CD274 molecule
CD38 CD38 molecule
CD68 CD68 molecule
CD70 CD70 molecule
CD82 CD82 molecule
CDH15 cadherin 15, type 1, M-cadherin (myotubule)
CDH16 cadherin 16, KSP-cadherin
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDHR5 cadherin-related family member 5
CDK1 cyclin-dependent kinase 1
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CEBPB CCAAT/enhancer binding protein (C/EBP), beta
CEP55 centrosomal protein 55kDa
CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2
CHEK2 checkpoint kinase 2
CLDN1 claudin 1
CLDN8 claudin 8
COL11A1 collagen, type XI, alpha 1
COL11A2 collagen, type XI, alpha 2
COL18A1 collagen, type XVIII, alpha 1
COL5A1 collagen, type V, alpha 1
COL6A3 collagen, type VI, alpha 3
COX2
CRABP1 cellular retinoic acid binding protein 1
CRABP2 cellular retinoic acid binding protein 2
CRP C-reactive protein, pentraxin-related
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSK cathepsin K
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR2 chemokine (C-X-C motif) receptor 2
CXCR4 chemokine (C-X-C motif) receptor 4
DAB2IP DAB2 interacting protein
DAPK1 death-associated protein kinase 1
DEGS1 delta(4)-desaturase, sphingolipid 1
DKK1 dickkopf WNT signaling pathway inhibitor 1
DKK2 dickkopf WNT signaling pathway inhibitor 2
DKK3 dickkopf WNT signaling pathway inhibitor 3
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DVL2 dishevelled segment polarity protein 2
EGLN1 egl-9 family hypoxia-inducible factor 1
EGLN2 egl-9 family hypoxia-inducible factor 2
EIF3D eukaryotic translation initiation factor 3, subunit D
EIF4EBP1 eukaryotic translation initiation factor 4E binding protein 1
ENPP2 ectonucleotide pyrophosphatase/phosphodiesterase 2
EPAS1 endothelial PAS domain protein 1
EPCAM epithelial cell adhesion molecule
ERAP2 endoplasmic reticulum aminopeptidase 2
ERBB2 erb-b2 receptor tyrosine kinase 2
ETFA electron-transfer-flavoprotein, alpha polypeptide
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGB fibrinogen beta chain
FGFR2 fibroblast growth factor receptor 2
FH fumarate hydratase
FHIT fragile histidine triad
FLCN folliculin
FLT1 fms-related tyrosine kinase 1
FN1 fibronectin 1
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FSTL1 follistatin-like 1
GATA5 GATA binding protein 5
GH1 growth hormone 1
GLIS3 GLIS family zinc finger 3
GPR182 G protein-coupled receptor 182
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRP gastrin-releasing peptide
GSTK1 glutathione S-transferase kappa 1
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-A major histocompatibility complex, class I, A
HLA-C major histocompatibility complex, class I, C
HNF1B HNF1 homeobox B
HOXA11 homeobox A11
HOXB13 homeobox B13
ICAM1 intercellular adhesion molecule 1
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGFBP7 insulin-like growth factor binding protein 7
IL1B interleukin 1, beta
IL2 interleukin 2
IL24 interleukin 24
IL4 interleukin 4
IL6 interleukin 6
INTS1 integrator complex subunit 1
ITGA5 integrin, alpha 5 (fibronectin receptor, alpha polypeptide)
JADE1 jade family PHD finger 1
KDR kinase insert domain receptor
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLRC1 killer cell lectin-like receptor subfamily C, member 1
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT7 keratin 7, type II
LAMP2 lysosomal-associated membrane protein 2
LARP6 La ribonucleoprotein domain family, member 6
LGALS3 lectin, galactoside-binding, soluble, 3
LRRFIP1 leucine rich repeat (in FLII) interacting protein 1
MAL2 mal, T-cell differentiation protein 2 (gene/pseudogene)
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK3 mitogen-activated protein kinase 3
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MED15 mediator complex subunit 15
MET MET proto-oncogene, receptor tyrosine kinase
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MUC1 mucin 1, cell surface associated
MUL1 mitochondrial E3 ubiquitin protein ligase 1
MYC v-myc avian myelocytomatosis viral oncogene homolog
NAMPT nicotinamide phosphoribosyltransferase
NCR1 natural cytotoxicity triggering receptor 1
NCR3 natural cytotoxicity triggering receptor 3
NEDD8 neural precursor cell expressed, developmentally down-regulated 8
NES nestin
NOV nephroblastoma overexpressed
NOX4 NADPH oxidase 4
P2RY1 purinergic receptor P2Y, G-protein coupled, 1
PARK2 parkin RBR E3 ubiquitin protein ligase
PARP1 poly (ADP-ribose) polymerase 1
PAX2 paired box 2
PAX8 paired box 8
PBRM1 polybromo 1
PCNA proliferating cell nuclear antigen
PDCD1 programmed cell death 1
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PFN1 profilin 1
PITX1 paired-like homeodomain 1
PKM pyruvate kinase, muscle
PNRC2 proline-rich nuclear receptor coactivator 2
POLR2A polymerase (RNA) II (DNA directed) polypeptide A, 220kDa
POMC proopiomelanocortin
PRCC papillary renal cell carcinoma (translocation-associated)
PRDX1 peroxiredoxin 1
PRKCZ protein kinase C, zeta
PROM1 prominin 1
PSEN1 presenilin 1
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPRG protein tyrosine phosphatase, receptor type, G
PTPRU protein tyrosine phosphatase, receptor type, U
PYCARD PYD and CARD domain containing
QPCT glutaminyl-peptide cyclotransferase
RAP1GAP RAP1 GTPase activating protein
RARB retinoic acid receptor, beta
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RBP1 retinol binding protein 1, cellular
RBP2 retinol binding protein 2, cellular
REG1A regenerating islet-derived 1 alpha
RNF139 ring finger protein 139
RPL17 ribosomal protein L17
RPL17-C18ORF32 RPL17-C18orf32 readthrough
SAGE1 sarcoma antigen 1
SAMD9 sterile alpha motif domain containing 9
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETD2 SET domain containing 2
SFPQ splicing factor proline/glutamine-rich
SH3GL2 SH3-domain GRB2-like 2
SIRT1 sirtuin 1
SKA1 spindle and kinetochore associated complex subunit 1
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOX2 SRY (sex determining region Y)-box 2
SPATA2 spermatogenesis associated 2
SPHK1 sphingosine kinase 1
SST somatostatin
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SULF2 sulfatase 2
SUSD2 sushi domain containing 2
TBC1D8 TBC1 domain family, member 8 (with GRAM domain)
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TFE3 transcription factor binding to IGHM enhancer 3
TFEB transcription factor EB
TGFB1 transforming growth factor, beta 1
TICAM2 toll-like receptor adaptor molecule 2
TMED7 transmembrane emp24 protein transport domain containing 7
TMED7-TICAM2 TMED7-TICAM2 readthrough
TNF tumor necrosis factor
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNFSF12-TNFSF13 TNFSF12-TNFSF13 readthrough
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TP53 tumor protein p53
TRAM1 translocation associated membrane protein 1
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
UBASH3B ubiquitin associated and SH3 domain containing B
UBE2F ubiquitin-conjugating enzyme E2F (putative)
UHRF1 ubiquitin-like with PHD and ring finger domains 1
VCL vinculin
VEGFA vascular endothelial growth factor A
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
WWOX WW domain containing oxidoreductase
XRCC1 X-ray repair complementing defective repair in Chinese hamster cells 1
YBX1 Y box binding protein 1
ZNF645 zinc finger protein 645