b cell deficiency Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. (Human Disease Ontology, DOID_2115)
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Genes

351 genes co-occuring with the disease b cell deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
BTK Bruton agammaglobulinemia tyrosine kinase 3.03098
CD79A CD79a molecule, immunoglobulin-associated alpha 2.80593
CD40LG CD40 ligand 2.1797
SH2D1A SH2 domain containing 1A 1.97129
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 1.96192
CD19 CD19 molecule 1.75187
CD40 CD40 molecule, TNF receptor superfamily member 5 1.72593
CD27 CD27 molecule 1.7159
CD4 CD4 molecule 1.6877
PLEK pleckstrin 1.67503
CXCR4 chemokine (C-X-C motif) receptor 4 1.59564
ITK IL2-inducible T-cell kinase 1.49087
AICDA activation-induced cytidine deaminase 1.42937
TXK TXK tyrosine kinase 1.36379
BLNK B-cell linker 1.35943
BMX BMX non-receptor tyrosine kinase 1.34199
CAMLG calcium modulating ligand 1.32803
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 1.28785
CD38 CD38 molecule 1.20569
MSH5 mutS homolog 5 1.19877
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C 1.18152
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b 1.12487
TEC tec protein tyrosine kinase 1.10175
DOCK8 dedicator of cytokinesis 8 1.07614
NT5E 5'-nucleotidase, ecto (CD73) 1.06648
SPRYD3 SPRY domain containing 3 1.05681
TLR9 toll-like receptor 9 1.05429
IL2 interleukin 2 1.05093
CD79B CD79b molecule, immunoglobulin-associated beta 0.999924
LRRC8A leucine rich repeat containing 8 family, member A 0.997392
B3GAT1 beta-1,3-glucuronyltransferase 1 0.991065
BCR breakpoint cluster region 0.982215
SRC SRC proto-oncogene, non-receptor tyrosine kinase 0.974642
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific) 0.949519
CD69 CD69 molecule 0.926279
CXCL12 chemokine (C-X-C motif) ligand 12 0.906086
PCID2 PCI domain containing 2 0.901567
CD84 CD84 molecule 0.88475
LCP2 lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) 0.877786
CD81 CD81 molecule 0.876966
LRRC8E leucine rich repeat containing 8 family, member E 0.8741
PREB prolactin regulatory element binding 0.86059
ZBTB24 zinc finger and BTB domain containing 24 0.830279
IL21 interleukin 21 0.819616
UNG uracil-DNA glycosylase 0.819206
SYK spleen tyrosine kinase 0.808539
CD5 CD5 molecule 0.801154
C4A complement component 4A (Rodgers blood group) 0.799513
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 0.786394
TNF tumor necrosis factor 0.779432
LY9 lymphocyte antigen 9 0.769618
LYN LYN proto-oncogene, Src family tyrosine kinase 0.765943
HLA-A major histocompatibility complex, class I, A 0.763494
IGLL1 immunoglobulin lambda-like polypeptide 1 0.762271
RAG1 recombination activating gene 1 0.746798
TAF7L TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 0.721673
CD86 CD86 molecule 0.720865
IL4 interleukin 4 0.715618
STXBP2 syntaxin binding protein 2 0.715215
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 0.710378
PLEKHG1 pleckstrin homology domain containing, family G (with RhoGef domain) member 1 0.691495
CFP complement factor properdin 0.685491
ORC4 origin recognition complex, subunit 4 0.67312
SP110 SP110 nuclear body protein 0.668345
TLR7 toll-like receptor 7 0.663181
ALB albumin 0.65288
IBTK inhibitor of Bruton agammaglobulinemia tyrosine kinase 0.632777
IGHG2 immunoglobulin heavy constant gamma 2 (G2m marker) 0.629635
FOXP3 forkhead box P3 0.624143
TCN2 transcobalamin II 0.623751
UNC13D unc-13 homolog D (C. elegans) 0.60264
KRT84 keratin 84, type II 0.60186
RAG2 recombination activating gene 2 0.586276
HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 0.583941
TMPO thymopoietin 0.578494
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 0.57655
JAK3 Janus kinase 3 0.57655
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 0.574217
CARD11 caspase recruitment domain family, member 11 0.57305
IL12RB1 interleukin 12 receptor, beta 1 0.571495
CCR7 chemokine (C-C motif) receptor 7 0.571107
VAV1 vav 1 guanine nucleotide exchange factor 0.565277
POU2AF1 POU class 2 associating factor 1 0.561392
IGHV3-9 immunoglobulin heavy variable 3-9 0.561004
STX11 syntaxin 11 0.561004
ADA adenosine deaminase 0.554015
CD70 CD70 molecule 0.552851
CR2 complement component (3d/Epstein Barr virus) receptor 2 0.549359
SLAMF1 signaling lymphocytic activation molecule family member 1 0.539667
HLA-C major histocompatibility complex, class I, C 0.53657
NFATC2IP nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 0.533475
IGHG4 immunoglobulin heavy constant gamma 4 (G4m marker) 0.529994
MBL2 mannose-binding lectin (protein C) 2, soluble 0.52536
CD83 CD83 molecule 0.524588
PTPRC protein tyrosine phosphatase, receptor type, C 0.523816
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 0.52343
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit 0.48893
SIGLEC10 sialic acid binding Ig-like lectin 10 0.480566
ICOS inducible T-cell co-stimulator 0.472225
FCGRT Fc fragment of IgG, receptor, transporter, alpha 0.464283
CD180 CD180 molecule 0.460506
PAX5 paired box 5 0.459751
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 0.456732
TYK2 tyrosine kinase 2 0.447687
OR2H2 olfactory receptor, family 2, subfamily H, member 2 0.440914
LRBA LPS-responsive vesicle trafficking, beach and anchor containing 0.433397
CD80 CD80 molecule 0.431144
MS4A2 membrane-spanning 4-domains, subfamily A, member 2 0.428516
ATP11C ATPase, class VI, type 11C 0.42814
IRAK4 interleukin-1 receptor-associated kinase 4 0.424014
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12 0.418019
PRF1 perforin 1 (pore forming protein) 0.41727
WAS Wiskott-Aldrich syndrome 0.415024
EPHB6 EPH receptor B6 0.415024
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase 0.411283
ALG12 ALG12, alpha-1,6-mannosyltransferase 0.404931
CD3G CD3g molecule, gamma (CD3-TCR complex) 0.397098
MKLN1 muskelin 1, intracellular mediator containing kelch motifs 0.397098
CARD9 caspase recruitment domain family, member 9 0.392629
HLA-E major histocompatibility complex, class I, E 0.382223
IL10 interleukin 10 0.38111
HCK HCK proto-oncogene, Src family tyrosine kinase 0.379997
IFNA1 interferon, alpha 1 0.378143
ANKRD54 ankyrin repeat domain 54 0.37629
SH3BP5 SH3-domain binding protein 5 (BTK-associated) 0.374438
CD24 CD24 molecule 0.372587
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 0.371477
TSKU tsukushi, small leucine rich proteoglycan 0.370737
MYD88 myeloid differentiation primary response 88 0.370368
MAGT1 magnesium transporter 1 0.365193
ICOSLG inducible T-cell co-stimulator ligand 0.362609
CD34 CD34 molecule 0.360395
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator 0.356341
FYN FYN proto-oncogene, Src family tyrosine kinase 0.354131
IL7R interleukin 7 receptor 0.351923
PAX2 paired box 2 0.351555
SLC46A1 solute carrier family 46 (folate transporter), member 1 0.348614
CD276 CD276 molecule 0.348246
LCK LCK proto-oncogene, Src family tyrosine kinase 0.343106
GTF2I general transcription factor IIi 0.33651
NCAM1 neural cell adhesion molecule 1 0.332852
IGHV5-51 immunoglobulin heavy variable 5-51 0.332121
AIRE autoimmune regulator 0.328469
HLA-B major histocompatibility complex, class I, B 0.328469
RPS19BP1 ribosomal protein S19 binding protein 1 0.327375
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha) 0.324458
LCT lactase 0.32373
CD247 CD247 molecule 0.322637
A2M alpha-2-macroglobulin 0.32009
IGHV4-39 immunoglobulin heavy variable 4-39 0.316819
BCLAF1 BCL2-associated transcription factor 1 0.316092
TRHDE thyrotropin-releasing hormone degrading enzyme 0.308842
TNFRSF18 tumor necrosis factor receptor superfamily, member 18 0.308118
TCF3 transcription factor 3 0.307033
C1R complement component 1, r subcomponent 0.304142
TLR4 toll-like receptor 4 0.303781
CSN1S1 casein alpha s1 0.30342
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 0.302698
IL2RA interleukin 2 receptor, alpha 0.300173
TLR2 toll-like receptor 2 0.299812
CD58 CD58 molecule 0.292257
NHEJ1 nonhomologous end-joining factor 1 0.29118
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23) 0.283655
IL21R interleukin 21 receptor 0.283297
MPO myeloperoxidase 0.280082
IFITM1 interferon induced transmembrane protein 1 0.278654
GP6 glycoprotein VI (platelet) 0.272597
CECR1 cat eye syndrome chromosome region, candidate 1 0.27153
IL6 interleukin 6 0.270819
IFIH1 interferon induced with helicase C domain 1 0.270819
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 0.270464
HN1L hematological and neurological expressed 1-like 0.266913
ADRBK2 adrenergic, beta, receptor kinase 2 0.260538
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 0.260184
CLEC6A C-type lectin domain family 6, member A 0.251718
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive 0.251366
SWAP70 SWAP switching B-cell complex 70kDa subunit 0.251366
ELF4 E74-like factor 4 (ets domain transcription factor) 0.24996
ATRN attractin 0.248203
LYZ lysozyme 0.247852
HIVEP2 human immunodeficiency virus type I enhancer binding protein 2 0.245747
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta 0.244345
CASZ1 castor zinc finger 1 0.243995
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 0.243995
B2M beta-2-microglobulin 0.238752
OAT ornithine aminotransferase 0.23666
PLCD1 phospholipase C, delta 1 0.235268
GIF gastric intrinsic factor (vitamin B synthesis) 0.233878
ST7 suppression of tumorigenicity 7 0.230409
STAT1 signal transducer and activator of transcription 1, 91kDa 0.221793
IGHV1-2 immunoglobulin heavy variable 1-2 0.213621
NDUFA5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 0.208914
GRK4 G protein-coupled receptor kinase 4 0.208579
IL17A interleukin 17A 0.205916
ALPPL2 alkaline phosphatase, placental-like 2 0.204923
MSH4 mutS homolog 4 0.204923
RGCC regulator of cell cycle 0.204923
ALPP alkaline phosphatase, placental 0.204593
ALPL alkaline phosphatase, liver/bone/kidney 0.204263
IGHG1 immunoglobulin heavy constant gamma 1 (G1m marker) 0.203933
CLEC16A C-type lectin domain family 16, member A 0.201635
CSN3 casein kappa 0.201308
RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated) 0.199356
TBX21 T-box 21 0.192344
CCL21 chemokine (C-C motif) ligand 21 0.192031
C5AR1 complement component 5a receptor 1 0.190786
REL v-rel avian reticuloendotheliosis viral oncogene homolog 0.189859
SBDS Shwachman-Bodian-Diamond syndrome 0.189859
FCRL4 Fc receptor-like 4 0.189551
HLA-DRB5 major histocompatibility complex, class II, DR beta 5 0.189551
LTA lymphotoxin alpha 0.18472
RAB27A RAB27A, member RAS oncogene family 0.182086
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 0.178126
IL7 interleukin 7 0.177851
CD164 CD164 molecule, sialomucin 0.175679
CD22 CD22 molecule 0.170544
MST1R macrophage stimulating 1 receptor 0.170544
BCL6 B-cell CLL/lymphoma 6 0.169571
SLAMF6 SLAM family member 6 0.168148
IFNG interferon, gamma 0.166095
XCL1 chemokine (C motif) ligand 1 0.164149
ELAVL3 ELAV like neuron-specific RNA binding protein 3 0.162505
KLRAP1 killer cell lectin-like receptor subfamily A pseudogene 1 0.161912
TRAF3IP2 TRAF3 interacting protein 2 0.161912
CTLA4 cytotoxic T-lymphocyte-associated protein 4 0.161523
TNFRSF9 tumor necrosis factor receptor superfamily, member 9 0.15948
ADGRB1 adhesion G protein-coupled receptor B1 0.159124
PGK1 phosphoglycerate kinase 1 0.158605
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase 0.157765
AHRR aryl-hydrocarbon receptor repressor 0.140949
GLS2 glutaminase 2 (liver, mitochondrial) 0.136136
CYBB cytochrome b-245, beta polypeptide 0.134613
CORO1A coronin, actin binding protein, 1A 0.134404
SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 0.13435
RAET1E retinoic acid early transcript 1E 0.134335
LYST lysosomal trafficking regulator 0.132439
ST6GALNAC1 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 0.130269
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2 0.128302
CD8B CD8b molecule 0.127697
C1ORF174 chromosome 1 open reading frame 174 0.127441
MMP23B matrix metallopeptidase 23B 0.127367
RFXANK regulatory factor X-associated ankyrin-containing protein 0.126252
EFNB3 ephrin-B3 0.125772
RNF31 ring finger protein 31 0.123377
IRF8 interferon regulatory factor 8 0.122121
LAMP3 lysosomal-associated membrane protein 3 0.121714
TFEB transcription factor EB 0.119845
TLR8 toll-like receptor 8 0.119412
ZNF77 zinc finger protein 77 0.119041
PEPD peptidase D 0.117768
TLR6 toll-like receptor 6 0.117045
NELFCD negative elongation factor complex member C/D 0.116832
STAT5B signal transducer and activator of transcription 5B 0.116394
IGLV7-43 immunoglobulin lambda variable 7-43 0.115724
MAG myelin associated glycoprotein 0.113539
CCNG2 cyclin G2 0.113133
MRC1 mannose receptor, C type 1 0.110608
PCDH8 protocadherin 8 0.109964
ADSL adenylosuccinate lyase 0.109846
EPHA2 EPH receptor A2 0.109626
KRTAP1-1 keratin associated protein 1-1 0.109339
KRTAP1-3 keratin associated protein 1-3 0.109339
SCRT1 scratch family zinc finger 1 0.109103
SEL1L sel-1 suppressor of lin-12-like (C. elegans) 0.10893
BPI bactericidal/permeability-increasing protein 0.10886
TOX thymocyte selection-associated high mobility group box 0.107811
FYB FYN binding protein 0.10765
IL17RA interleukin 17 receptor A 0.107276
PPP5C protein phosphatase 5, catalytic subunit 0.106715
TLR3 toll-like receptor 3 0.106385
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase 0.10622
TLR1 toll-like receptor 1 0.106201
DAP death-associated protein 0.106
PPP2CB protein phosphatase 2, catalytic subunit, beta isozyme 0.105981
PPP6C protein phosphatase 6, catalytic subunit 0.105871
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme 0.105193
PPP3CC protein phosphatase 3, catalytic subunit, gamma isozyme 0.104911
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme 0.104624
PPP1CC protein phosphatase 1, catalytic subunit, gamma isozyme 0.10445
CLEC2B C-type lectin domain family 2, member B 0.104354
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme 0.104103
PPEF1 protein phosphatase, EF-hand calcium binding domain 1 0.10389
CHD7 chromodomain helicase DNA binding protein 7 0.103755
TFE3 transcription factor binding to IGHM enhancer 3 0.101559
PROK2 prokineticin 2 0.101151
PPP1CA protein phosphatase 1, catalytic subunit, alpha isozyme 0.100549
PPP4C protein phosphatase 4, catalytic subunit 0.099075
PPP2CA protein phosphatase 2, catalytic subunit, alpha isozyme 0.098756
EFNB2 ephrin-B2 0.098626
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 0.096545
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 0.095444
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 0.095308
NUMBL numb homolog (Drosophila)-like 0.094049
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 0.093473
CR1 complement component (3b/4b) receptor 1 (Knops blood group) 0.092791
ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1 0.090141
EML4 echinoderm microtubule associated protein like 4 0.089776
CD63 CD63 molecule 0.086126
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7 0.086049
FOXO1 forkhead box O1 0.084981
TGM2 transglutaminase 2 0.084571
NRG1 neuregulin 1 0.08289
IL1A interleukin 1, alpha 0.07941
HRH2 histamine receptor H2 0.079036
TGFBR1 transforming growth factor, beta receptor 1 0.077478
PPT2 palmitoyl-protein thioesterase 2 0.077236
RGS1 regulator of G-protein signaling 1 0.076912
PRKCD protein kinase C, delta 0.076559
P4HTM prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 0.075906
BHLHE40 basic helix-loop-helix family, member e40 0.075716
EGR1 early growth response 1 0.075554
CXCR5 chemokine (C-X-C motif) receptor 5 0.075554
NCF1C neutrophil cytosolic factor 1C pseudogene 0.075526
TLR5 toll-like receptor 5 0.075445
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1 0.075007
JAK1 Janus kinase 1 0.073693
TADA1 transcriptional adaptor 1 0.073141
NCF1 neutrophil cytosolic factor 1 0.072701
SELL selectin L 0.072398
TP53 tumor protein p53 0.072343
FCER1G Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide 0.072122
PRIMA1 proline rich membrane anchor 1 0.072095
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog 0.071817
NLRP12 NLR family, pyrin domain containing 12 0.07154
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 0.07129
S1PR5 sphingosine-1-phosphate receptor 5 0.071207
DYNC1I2 dynein, cytoplasmic 1, intermediate chain 2 0.071097
USB1 U6 snRNA biogenesis 1 0.070958
SOCS3 suppressor of cytokine signaling 3 0.070709
LRRC4C leucine rich repeat containing 4C 0.070515
CD248 CD248 molecule, endosialin 0.070404
JAK2 Janus kinase 2 0.070097
CD53 CD53 molecule 0.070014
CPSF3L cleavage and polyadenylation specific factor 3-like 0.069234
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila) 0.069207
XPO1 exportin 1 0.068621
CD1D CD1d molecule 0.068593
GYPC glycophorin C (Gerbich blood group) 0.068034
OPRL1 opiate receptor-like 1 0.067643
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) 0.067392
LIG4 ligase IV, DNA, ATP-dependent 0.067253
CDC27 cell division cycle 27 0.066973
RAD52 RAD52 homolog (S. cerevisiae) 0.066917
CALM3 calmodulin 3 (phosphorylase kinase, delta) 0.066748
CALM2 calmodulin 2 (phosphorylase kinase, delta) 0.06672
SPIB Spi-B transcription factor (Spi-1/PU.1 related) 0.066468
PNP purine nucleoside phosphorylase 0.066412
TGFBR2 transforming growth factor, beta receptor II (70/80kDa) 0.066412
CALM1 calmodulin 1 (phosphorylase kinase, delta) 0.066272
CLU clusterin 0.066188
SLC3A2 solute carrier family 3 (amino acid transporter heavy chain), member 2 0.06616