Common Variable Immunodeficiency Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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)
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Genes

37 genes associated with the Common Variable Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ADAM28 ADAM metallopeptidase domain 28
ADAM7 ADAM metallopeptidase domain 7
ADAMDEC1 ADAM-like, decysin 1
CARD11 caspase recruitment domain family, member 11
CR2 complement component (3d/Epstein Barr virus) receptor 2
CTLA4 cytotoxic T-lymphocyte-associated protein 4
FCGRT Fc fragment of IgG, receptor, transporter, alpha
HFE hemochromatosis
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
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
ICOS inducible T-cell co-stimulator
IFNG interferon, gamma
IL10 interleukin 10
IL12A interleukin 12A
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL4 interleukin 4
IL6 interleukin 6
MBL2 mannose-binding lectin (protein C) 2, soluble
NOD2 nucleotide-binding oligomerization domain containing 2
ORC4 origin recognition complex, subunit 4
POU2AF1 POU class 2 associating factor 1
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SH2D1A SH2 domain containing 1A
STC1 stanniocalcin 1
TGFB1 transforming growth factor, beta 1
TLR9 toll-like receptor 9
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase