Common Variable Immunodeficiency Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells. Patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin G (IgG) and immunoglobulin A (IgA); about half of these patients also have reduced immunoglobulin M (IgM). (Human Disease Ontology, DOID_12177)
External Link https://www.disgenet.org/browser/0/1/0/C0009447
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Genes

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

Symbol Name
ACTB actin, beta
ADCY7 adenylate cyclase 7
ADGRL2 adhesion G protein-coupled receptor L2
ADIPOQ adiponectin, C1Q and collagen domain containing
ADIPOR1 adiponectin receptor 1
AICDA activation-induced cytidine deaminase
ANKRD30A ankyrin repeat domain 30A
ANKRD55 ankyrin repeat domain 55
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
APCS amyloid P component, serum
AR androgen receptor
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7
ASCC1 activating signal cointegrator 1 complex subunit 1
ATG16L1 autophagy related 16-like 1 (S. cerevisiae)
ATXN2L ataxin 2-like
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
BCR breakpoint cluster region
BHLHE40 basic helix-loop-helix family, member e40
BLK BLK proto-oncogene, Src family tyrosine kinase
BTK Bruton agammaglobulinemia tyrosine kinase
C1ORF141 chromosome 1 open reading frame 141
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CAMLG calcium modulating ligand
CARD11 caspase recruitment domain family, member 11
CARD9 caspase recruitment domain family, member 9
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CCL19 chemokine (C-C motif) ligand 19
CCL21 chemokine (C-C motif) ligand 21
CCR7 chemokine (C-C motif) receptor 7
CD14 CD14 molecule
CD19 CD19 molecule
CD1D CD1d molecule
CD27 CD27 molecule
CD28 CD28 molecule
CD38 CD38 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD69 CD69 molecule
CD70 CD70 molecule
CD81 CD81 molecule
CD86 CD86 molecule
CDH13 cadherin 13
CDK14 cyclin-dependent kinase 14
CELSR3 cadherin, EGF LAG seven-pass G-type receptor 3
CENPX centromere protein X
CHIT1 chitinase 1 (chitotriosidase)
CLDN15 claudin 15
CLDN2 claudin 2
CLEC16A C-type lectin domain family 16, member A
CR2 complement component (3d/Epstein Barr virus) receptor 2
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CXCR5 chemokine (C-X-C motif) receptor 5
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPP4 dipeptidyl-peptidase 4
DUSP5 dual specificity phosphatase 5
EBI3 Epstein-Barr virus induced 3
ERAP2 endoplasmic reticulum aminopeptidase 2
FAS Fas cell surface death receptor
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FCGRT Fc fragment of IgG, receptor, transporter, alpha
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2
FGF14 fibroblast growth factor 14
FNBP1 formin binding protein 1
FOXP3 forkhead box P3
FUS FUS RNA binding protein
FUT2 fucosyltransferase 2 (secretor status included)
GATA3 GATA binding protein 3
GEM GTP binding protein overexpressed in skeletal muscle
GPR35 G protein-coupled receptor 35
HAVCR1 hepatitis A virus cellular receptor 1
HFE hemochromatosis
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
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
HLA-DRB3 major histocompatibility complex, class II, DR beta 3
HSPG2 heparan sulfate proteoglycan 2
ICOS inducible T-cell co-stimulator
ICOSLG inducible T-cell co-stimulator ligand
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNG interferon, gamma
IFNK interferon, kappa
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL10 interleukin 10
IL17A interleukin 17A
IL18R1 interleukin 18 receptor 1
IL2 interleukin 2
IL21 interleukin 21
IL21R interleukin 21 receptor
IL22 interleukin 22
IL23R interleukin 23 receptor
IL2RA interleukin 2 receptor, alpha
IL33 interleukin 33
IL4 interleukin 4
IL5 interleukin 5
IL6 interleukin 6
IL7 interleukin 7
INS-IGF2 INS-IGF2 readthrough
IRF2BP2 interferon regulatory factor 2 binding protein 2
IRF4 interferon regulatory factor 4
ISG20 interferon stimulated exonuclease gene 20kDa
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGAX integrin, alpha X (complement component 3 receptor 4 subunit)
ITK IL2-inducible T-cell kinase
KANTR KDM5C adjacent non-coding transcript
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
KRT20 keratin 20, type I
LAMB4 laminin, beta 4
LCK LCK proto-oncogene, Src family tyrosine kinase
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRRK2 leucine-rich repeat kinase 2
LTA lymphotoxin alpha
LURAP1L leucine rich adaptor protein 1-like
MAN1C1 mannosidase, alpha, class 1C, member 1
MBL2 mannose-binding lectin (protein C) 2, soluble
MPO myeloperoxidase
MRC1 mannose receptor, C type 1
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH5 mutS homolog 5
MTA2 metastasis associated 1 family, member 2
MYD88 myeloid differentiation primary response 88
NCAM1 neural cell adhesion molecule 1
NEDD9 neural precursor cell expressed, developmentally down-regulated 9
NEIL1 nei endonuclease VIII-like 1 (E. coli)
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NKD1 naked cuticle homolog 1 (Drosophila)
NLRP12 NLR family, pyrin domain containing 12
NOD2 nucleotide-binding oligomerization domain containing 2
NT5C 5', 3'-nucleotidase, cytosolic
OR14J1 olfactory receptor, family 14, subfamily J, member 1
ORC4 origin recognition complex, subunit 4
PAX5 paired box 5
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
POMC proopiomelanocortin
POU2AF1 POU class 2 associating factor 1
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCD protein kinase C, delta
PTPRC protein tyrosine phosphatase, receptor type, C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
SBDS Shwachman-Bodian-Diamond syndrome
SCYL1 SCY1-like 1 (S. cerevisiae)
SDC1 syndecan 1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SH2D1A SH2 domain containing 1A
SMAD3 SMAD family member 3
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SNX31 sorting nexin 31
SRPX sushi-repeat containing protein, X-linked
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
SUOX sulfite oxidase
SWAP70 SWAP switching B-cell complex 70kDa subunit
TAB3 TGF-beta activated kinase 1/MAP3K7 binding protein 3
TBX19 T-box 19
TCOF1 Treacher Collins-Franceschetti syndrome 1
TERT telomerase reverse transcriptase
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR7 toll-like receptor 7
TLR9 toll-like receptor 9
TNF tumor necrosis factor
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF17 tumor necrosis factor receptor superfamily, member 17
TNFRSF18 tumor necrosis factor receptor superfamily, member 18
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFRSF8 tumor necrosis factor receptor superfamily, member 8
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNFSF15 tumor necrosis factor (ligand) superfamily, member 15
TOLLIP toll interacting protein
TP53 tumor protein p53
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VAV1 vav 1 guanine nucleotide exchange factor
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XBP1 X-box binding protein 1
XCL1 chemokine (C motif) ligand 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZMIZ1 zinc finger, MIZ-type containing 1
ZNF630 zinc finger protein 630