Combined Immunodeficiency Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0494261
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Genes

83 genes associated with the disease Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
ACTR2 ARP2 actin-related protein 2 homolog (yeast)
ADA adenosine deaminase
ADA2 adenosine deaminase 2
AICDA activation-induced cytidine deaminase
AK2 adenylate kinase 2
ANGPTL2 angiopoietin-like 2
ARPC1B actin related protein 2/3 complex, subunit 1B, 41kDa
ARPP21 cAMP-regulated phosphoprotein, 21kDa
ATN1 atrophin 1
B2M beta-2-microglobulin
BCL10 B-cell CLL/lymphoma 10
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CARD11 caspase recruitment domain family, member 11
CARMIL2 capping protein regulator and myosin 1 linker 2
CD27 CD27 molecule
CD3G CD3g molecule, gamma (CD3-TCR complex)
CD70 CD70 molecule
CDC42 cell division cycle 42
CORO1A coronin, actin binding protein, 1A
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DCLRE1C DNA cross-link repair 1C
DOCK2 dedicator of cytokinesis 2
DOCK8 dedicator of cytokinesis 8
ERCC2 excision repair cross-complementation group 2
HLA-A major histocompatibility complex, class I, A
HLA-C major histocompatibility complex, class I, C
ICOS inducible T-cell co-stimulator
IFNG interferon, gamma
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL17A interleukin 17A
IL21R interleukin 21 receptor
IL2RA interleukin 2 receptor, alpha
IL2RG interleukin 2 receptor, gamma
ITK IL2-inducible T-cell kinase
KNSTRN kinetochore-localized astrin/SPAG5 binding protein
LAT linker for activation of T cells
LCK LCK proto-oncogene, Src family tyrosine kinase
LIG4 ligase IV, DNA, ATP-dependent
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
MAGT1 magnesium transporter 1
MALT1 MALT1 paracaspase
MSN moesin
MTA2 metastasis associated 1 family, member 2
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NHEJ1 nonhomologous end-joining factor 1
ORAI1 ORAI calcium release-activated calcium modulator 1
PGM3 phosphoglucomutase 3
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLAA phospholipase A2-activating protein
PNP purine nucleoside phosphorylase
POMP proteasome maturation protein
PRKDC protein kinase, DNA-activated, catalytic polypeptide
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RAD54L RAD54-like (S. cerevisiae)
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RASGRP1 RAS guanyl releasing protein 1 (calcium and DAG-regulated)
RECQL4 RecQ protein-like 4
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RHOH ras homolog family member H
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
SP110 SP110 nuclear body protein
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
STIM1 stromal interaction molecule 1
STK4 serine/threonine kinase 4
TFRC transferrin receptor
TNFRSF4 tumor necrosis factor receptor superfamily, member 4
TTC7A tetratricopeptide repeat domain 7A
UNC119 unc-119 homolog (C. elegans)
WIPF1 WAS/WASL interacting protein family, member 1
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa