common variable immunodeficiency Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
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)
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Genes

122 genes co-occuring with the disease common variable immunodeficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 2.20683
CD79A CD79a molecule, immunoglobulin-associated alpha 1.93233
CD27 CD27 molecule 1.76411
CD40LG CD40 ligand 1.63993
CD19 CD19 molecule 1.63366
BTK Bruton agammaglobulinemia tyrosine kinase 1.62649
CD4 CD4 molecule 1.57556
CAMLG calcium modulating ligand 1.51809
SH2D1A SH2 domain containing 1A 1.49438
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C 1.38734
CD40 CD40 molecule, TNF receptor superfamily member 5 1.30794
MSH5 mutS homolog 5 1.30226
AICDA activation-induced cytidine deaminase 1.29877
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b 1.22475
TLR9 toll-like receptor 9 1.17206
CD38 CD38 molecule 1.12825
B3GAT1 beta-1,3-glucuronyltransferase 1 1.11519
IL2 interleukin 2 1.01427
CD81 CD81 molecule 0.944938
ORC4 origin recognition complex, subunit 4 0.933727
IL21 interleukin 21 0.927519
CD69 CD69 molecule 0.90321
NFATC2IP nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 0.787623
TMPO thymopoietin 0.778613
CCR7 chemokine (C-C motif) receptor 7 0.762271
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit 0.739894
C4A complement component 4A (Rodgers blood group) 0.72127
CD180 CD180 molecule 0.709572
VAV1 vav 1 guanine nucleotide exchange factor 0.700722
CD70 CD70 molecule 0.684292
TNF tumor necrosis factor 0.682294
CD86 CD86 molecule 0.630813
UNG uracil-DNA glycosylase 0.614356
HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 0.610838
ICOSLG inducible T-cell co-stimulator ligand 0.605762
BLNK B-cell linker 0.60342
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) 0.594064
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 0.580828
FOXP3 forkhead box P3 0.579272
IGHV3-9 immunoglobulin heavy variable 3-9 0.540055
CD58 CD58 molecule 0.530768
IL21R interleukin 21 receptor 0.521117
IL4 interleukin 4 0.510728
CECR1 cat eye syndrome chromosome region, candidate 1 0.508424
FCGRT Fc fragment of IgG, receptor, transporter, alpha 0.505739
PTPRC protein tyrosine phosphatase, receptor type, C 0.502675
SWAP70 SWAP switching B-cell complex 70kDa subunit 0.486646
BCR breakpoint cluster region 0.485505
ATRN attractin 0.483224
IL7R interleukin 7 receptor 0.479047
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 0.423265
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 0.419142
SBDS Shwachman-Bodian-Diamond syndrome 0.418019
FCRL4 Fc receptor-like 4 0.417644
HLA-DRB5 major histocompatibility complex, class II, DR beta 5 0.417644
HLA-C major histocompatibility complex, class I, C 0.415773
CD24 CD24 molecule 0.404557
LCK LCK proto-oncogene, Src family tyrosine kinase 0.404557
NT5E 5'-nucleotidase, ecto (CD73) 0.401572
MST1R macrophage stimulating 1 receptor 0.392257
CD84 CD84 molecule 0.382966
XCL1 chemokine (C motif) ligand 1 0.381852
TRAF3IP2 TRAF3 interacting protein 2 0.377773
CTLA4 cytotoxic T-lymphocyte-associated protein 4 0.377402
STXBP2 syntaxin binding protein 2 0.37629
TNFRSF9 tumor necrosis factor receptor superfamily, member 9 0.372958
KRTAP1-1 keratin associated protein 1-1 0.363716
KRTAP1-3 keratin associated protein 1-3 0.363716
AIRE autoimmune regulator 0.362978
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 0.359657
CD247 CD247 molecule 0.357077
ICOS inducible T-cell co-stimulator 0.353395
TOX thymocyte selection-associated high mobility group box 0.347511
IL17RA interleukin 17 receptor A 0.342006
HLA-A major histocompatibility complex, class I, A 0.335412
DAP death-associated protein 0.3292
TLR7 toll-like receptor 7 0.325187
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 0.316819
TNFRSF18 tumor necrosis factor receptor superfamily, member 18 0.296931
AHRR aryl-hydrocarbon receptor repressor 0.294772
PPT2 palmitoyl-protein thioesterase 2 0.284728
BCL6 B-cell CLL/lymphoma 6 0.28151
RGS1 regulator of G-protein signaling 1 0.280439
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 0.279367
PRKCD protein kinase C, delta 0.275801
P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 0.267267
CARD11 caspase recruitment domain family, member 11 0.266913
BHLHE40 basic helix-loop-helix family, member e40 0.264785
CXCR5 chemokine (C-X-C motif) receptor 5 0.26266
KRT84 keratin 84, type II 0.261245
TLR5 toll-like receptor 5 0.261245
IFNA1 interferon, alpha 1 0.260184
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 0.256299
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 0.255594
LTA lymphotoxin alpha 0.253479
NCAM1 neural cell adhesion molecule 1 0.25207
PRF1 perforin 1 (pore forming protein) 0.246799
POU2AF1 POU class 2 associating factor 1 0.246098
HLA-B major histocompatibility complex, class I, B 0.22454
SELL selectin L 0.222479
NLRP12 NLR family, pyrin domain containing 12 0.211934
CD80 CD80 molecule 0.209583
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 0.208914
DOCK8 dedicator of cytokinesis 8 0.208245
CARD9 caspase recruitment domain family, member 9 0.20658
TLR2 toll-like receptor 2 0.200331
CD248 CD248 molecule, endosialin 0.198386
IL2RA interleukin 2 receptor, alpha 0.1936
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 0.191097
IL10 interleukin 10 0.18591
CD1D CD1d molecule 0.178682
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.177301
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 0.174093
PAX5 paired box 5 0.170544
OPRL1 opiate receptor-like 1 0.169812
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) 0.167682
HLA-E major histocompatibility complex, class I, E 0.166995
JAK3 Janus kinase 3 0.166095
RAD52 RAD52 homolog (S. cerevisiae) 0.163938
ITK IL2-inducible T-cell kinase 0.162109
PNP purine nucleoside phosphorylase 0.160387
CLU clusterin 0.158951