Wiskott-Aldrich Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [SN]. (Human Disease Ontology, DOID_9169)
External Link https://www.disgenet.org/browser/0/1/0/C0043194
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Genes

93 genes associated with the disease Wiskott-Aldrich Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ACTR2 ARP2 actin-related protein 2 homolog (yeast)
ACTR3 ARP3 actin-related protein 3 homolog (yeast)
ADA adenosine deaminase
AICDA activation-induced cytidine deaminase
ANGPTL2 angiopoietin-like 2
AR androgen receptor
ARPC1B actin related protein 2/3 complex, subunit 1B, 41kDa
ATXN2 ataxin 2
BCAR1 breast cancer anti-estrogen resistance 1
BCL6 B-cell CLL/lymphoma 6
BTK Bruton agammaglobulinemia tyrosine kinase
C4BPA complement component 4 binding protein, alpha
CA2 carbonic anhydrase II
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAST calpastatin
CCNDBP1 cyclin D-type binding-protein 1
CD19 CD19 molecule
CD27 CD27 molecule
CD28 CD28 molecule
CD34 CD34 molecule
CD40LG CD40 ligand
CD69 CD69 molecule
CDC42 cell division cycle 42
CIB1 calcium and integrin binding 1 (calmyrin)
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CR2 complement component (3d/Epstein Barr virus) receptor 2
CSF1 colony stimulating factor 1 (macrophage)
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CTTN cortactin
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
DOCK8 dedicator of cytokinesis 8
ELANE elastase, neutrophil expressed
FAS Fas cell surface death receptor
FBN1 fibrillin 1
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FLNA filamin A, alpha
FOXP3 forkhead box P3
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
G6PC3 glucose 6 phosphatase, catalytic, 3
G6PD glucose-6-phosphate dehydrogenase
GFI1 growth factor independent 1 transcription repressor
HAX1 HCLS1 associated protein X-1
ICOS inducible T-cell co-stimulator
IL2 interleukin 2
IL2RA interleukin 2 receptor, alpha
IL2RG interleukin 2 receptor, gamma
IL4 interleukin 4
IL6 interleukin 6
INTS8 integrator complex subunit 8
ISG20 interferon stimulated exonuclease gene 20kDa
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
LIG4 ligase IV, DNA, ATP-dependent
LY6E lymphocyte antigen 6 complex, locus E
MIB1 mindbomb E3 ubiquitin protein ligase 1
NCK1 NCK adaptor protein 1
NCKAP1L NCK-associated protein 1-like
NCKIPSD NCK interacting protein with SH3 domain
NELFCD negative elongation factor complex member C/D
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
OTC ornithine carbamoyltransferase
PFN1 profilin 1
PGK1 phosphoglycerate kinase 1
PKD2 polycystic kidney disease 2 (autosomal dominant)
PPARG peroxisome proliferator-activated receptor gamma
PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7
PTK2 protein tyrosine kinase 2
QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RAG1 recombination activating gene 1
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SPN sialophorin
SYP synaptophysin
TBC1D25 TBC1 domain family, member 25
TBX21 T-box 21
TFE3 transcription factor binding to IGHM enhancer 3
THPO thrombopoietin
TIMP1 TIMP metallopeptidase inhibitor 1
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
UBL4A ubiquitin-like 4A
USF2 upstream transcription factor 2, c-fos interacting
VPS35 vacuolar protein sorting 35 homolog (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
WASF1 WAS protein family, member 1
WASF3 WAS protein family, member 3
WASL Wiskott-Aldrich syndrome-like
WIPF1 WAS/WASL interacting protein family, member 1
WIPF2 WAS/WASL interacting protein family, member 2
ZNF182 zinc finger protein 182