b cell deficiency Gene Set

Dataset GWASdb SNP-Disease Associations
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)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:2115
Similar Terms
Downloads & Tools

Genes

236 genes associated with the disease b cell deficiency in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 1.27144
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 0.975411
IL13 interleukin 13 0.583311
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 0.474768
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 0.465282
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced 0.462323
ACKR1 atypical chemokine receptor 1 (Duffy blood group) 0.449844
IFIH1 interferon induced with helicase C domain 1 0.424736
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 0.422208
GLIS3 GLIS family zinc finger 3 0.41821
CDH23 cadherin-related 23 0.402732
CNTN4 contactin 4 0.40034
CDK14 cyclin-dependent kinase 14 0.398446
HAVCR1 hepatitis A virus cellular receptor 1 0.390582
RAD50 RAD50 homolog (S. cerevisiae) 0.389529
FGF14 fibroblast growth factor 14 0.385706
MAN1C1 mannosidase, alpha, class 1C, member 1 0.385245
SNX31 sorting nexin 31 0.383765
IL4R interleukin 4 receptor 0.379474
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.377295
SRPX sushi-repeat containing protein, X-linked 0.374553
LINC00299 long intergenic non-protein coding RNA 299 0.371601
CLEC16A C-type lectin domain family 16, member A 0.371601
LAMB4 laminin, beta 4 0.370722
HLA-A major histocompatibility complex, class I, A 0.358571
LRP1 low density lipoprotein receptor-related protein 1 0.357825
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 0.356594
ZBTB39 zinc finger and BTB domain containing 39 0.35483
WWP2 WW domain containing E3 ubiquitin protein ligase 2 0.352461
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 0.348214
LPP LIM domain containing preferred translocation partner in lipoma 0.343758
DGKZ diacylglycerol kinase, zeta 0.343758
UBE2R2 ubiquitin-conjugating enzyme E2R 2 0.34333
PNPLA6 patatin-like phospholipase domain containing 6 0.341915
TRPM3 transient receptor potential cation channel, subfamily M, member 3 0.340998
COL26A1 collagen, type XXVI, alpha 1 0.340361
ITGA11 integrin, alpha 11 0.334787
CRACR2A calcium release activated channel regulator 2A 0.333007
MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 0.331282
SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 0.33079
C5ORF56 chromosome 5 open reading frame 56 0.328322
FAS Fas cell surface death receptor 0.328204
CTNND2 catenin (cadherin-associated protein), delta 2 0.327605
SHC4 SHC (Src homology 2 domain containing) family, member 4 0.326542
SIK2 salt-inducible kinase 2 0.324184
ANGPT2 angiopoietin 2 0.32285
UBAP2 ubiquitin associated protein 2 0.321996
HLA-H major histocompatibility complex, class I, H (pseudogene) 0.321429
ZNRD1-AS1 ZNRD1 antisense RNA 1 0.321324
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 0.318055
C2ORF83 chromosome 2 open reading frame 83 0.317915
HLA-J major histocompatibility complex, class I, J (pseudogene) 0.317639
AGBL1 ATP/GTP binding protein-like 1 0.317503
PRPH2 peripherin 2 (retinal degeneration, slow) 0.317102
DMD dystrophin 0.31671
CSMD2 CUB and Sushi multiple domains 2 0.316582
HDAC4 histone deacetylase 4 0.316203
CASR calcium-sensing receptor 0.315713
NRCAM neuronal cell adhesion molecule 0.315004
HSF2BP heat shock transcription factor 2 binding protein 0.312954
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 0.312853
MSI2 musashi RNA-binding protein 2 0.312555
TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 0.312166
FOXP1 forkhead box P1 0.311787
MICA MHC class I polypeptide-related sequence A 0.310878
DOT1L DOT1-like histone H3K79 methyltransferase 0.310878
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.310443
TBC1D31 TBC1 domain family, member 31 0.310443
PCDH15 protocadherin-related 15 0.309772
AKIRIN2 akirin 2 0.308894
CD86 CD86 molecule 0.308436
SRBD1 S1 RNA binding domain 1 0.308286
CARD14 caspase recruitment domain family, member 14 0.305861
MAK male germ cell-associated kinase 0.305706
C17ORF99 chromosome 17 open reading frame 99 0.3048
TRIM26 tripartite motif containing 26 0.3048
LRP1B low density lipoprotein receptor-related protein 1B 0.304436
LAMC3 laminin, gamma 3 0.302913
NRP1 neuropilin 1 0.302715
PPP2R2B protein phosphatase 2, regulatory subunit B, beta 0.301508
PPP2R1B protein phosphatase 2, regulatory subunit A, beta 0.301263
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) 0.301203
FMN2 formin 2 0.301082
GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2 0.301022
CSTA cystatin A (stefin A) 0.300963
HK2 hexokinase 2 0.30055
RFC3 replication factor C (activator 1) 3, 38kDa 0.30026
LOC440600 uncharacterized LOC440600 0.298098
MTCL1 microtubule crosslinking factor 1 0.298098
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 0.297596
SHROOM3 shroom family member 3 0.297252
MYH13 myosin, heavy chain 13, skeletal muscle 0.296122
MAP2 microtubule-associated protein 2 0.29493
EDAR ectodysplasin A receptor 0.294717
FAM162A family with sequence similarity 162, member A 0.294177
FAXC failed axon connections homolog (Drosophila) 0.294095
ECT2L epithelial cell transforming 2 like 0.294014
IRF8 interferon regulatory factor 8 0.293612
HCG9 HLA complex group 9 (non-protein coding) 0.293376
TMPRSS7 transmembrane protease, serine 7 0.293104
DRD2 dopamine receptor D2 0.292459
CDK6 cyclin-dependent kinase 6 0.292422
TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 0.292055
CNTNAP2 contactin associated protein-like 2 0.291982
CD80 CD80 molecule 0.291946
MACROD2 MACRO domain containing 2 0.29191
C15ORF40 chromosome 15 open reading frame 40 0.291168
GSK3B glycogen synthase kinase 3 beta 0.290825
LVRN laeverin 0.290723
KCNIP1 Kv channel interacting protein 1 0.290589
OR10J1 olfactory receptor, family 10, subfamily J, member 1 0.290224
RELN reelin 0.289996
ASTL astacin-like metallo-endopeptidase (M12 family) 0.289867
AAA1 aortic aneurysm, familial abdominal 1 0.289485
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.28908
GDE1 glycerophosphodiester phosphodiesterase 1 0.288475
RORA RAR-related orphan receptor A 0.288416
ETV5 ets variant 5 0.287747
PARP9 poly (ADP-ribose) polymerase family, member 9 0.28769
PTPDC1 protein tyrosine phosphatase domain containing 1 0.287324
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 0.286993
KIF26B kinesin family member 26B 0.28683
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 0.286508
ADGRB1 adhesion G protein-coupled receptor B1 0.28627
PTPRG protein tyrosine phosphatase, receptor type, G 0.286165
AHI1 Abelson helper integration site 1 0.285983
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 0.285778
ARHGAP31 Rho GTPase activating protein 31 0.284381
TRIM31 tripartite motif containing 31 0.284031
SRL sarcalumenin 0.28386
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 0.283719
SETBP1 SET binding protein 1 0.283029
CADM3 cell adhesion molecule 3 0.282519
CELF1 CUGBP, Elav-like family member 1 0.28236
FGGY FGGY carbohydrate kinase domain containing 0.282255
DOCK2 dedicator of cytokinesis 2 0.282255
GRM5 glutamate receptor, metabotropic 5 0.282046
SORCS2 sortilin-related VPS10 domain containing receptor 2 0.281711
MAP6D1 MAP6 domain containing 1 0.281331
OSBPL10 oxysterol binding protein-like 10 0.281256
ZNF622 zinc finger protein 622 0.280689
KPNA1 karyopherin alpha 1 (importin alpha 5) 0.280207
UBE2Q1 ubiquitin-conjugating enzyme E2Q family member 1 0.279853
ZNF664-FAM101A filamin-interacting protein FAM101A 0.278515
MARC1 mitochondrial amidoxime reducing component 1 0.27808
TK1 thymidine kinase 1, soluble 0.277654
RYR3 ryanodine receptor 3 0.276827
LRP6 low density lipoprotein receptor-related protein 6 0.275453
PDE4D phosphodiesterase 4D, cAMP-specific 0.275453
MYO18B myosin XVIIIB 0.275264
FOXN3 forkhead box N3 0.275076
CSMD1 CUB and Sushi multiple domains 1 0.274343
LETMD1 LETM1 domain containing 1 0.274343
DACH2 dachshund family transcription factor 2 0.274164
RAB11FIP4 RAB11 family interacting protein 4 (class II) 0.273986
ZNF185 zinc finger protein 185 (LIM domain) 0.273289
PHACTR2 phosphatase and actin regulator 2 0.272781
CAMKMT calmodulin-lysine N-methyltransferase 0.27245
DNMBP dynamin binding protein 0.271173
ARHGAP30 Rho GTPase activating protein 30 0.270563
RBM42 RNA binding motif protein 42 0.269112
RHBG Rh family, B glycoprotein (gene/pseudogene) 0.268288
CD46 CD46 molecule, complement regulatory protein 0.268154
PPFIA2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 0.268021
FAM167A family with sequence similarity 167, member A 0.267238
MMP27 matrix metallopeptidase 27 0.267238
ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 0.266984
CCDC50 coiled-coil domain containing 50 0.266608
MYEOV2 myeloma overexpressed 2 0.266361
GUCD1 guanylyl cyclase domain containing 1 0.265997
ZFHX3 zinc finger homeobox 3 0.265877
CNTN6 contactin 6 0.265055
C1ORF87 chromosome 1 open reading frame 87 0.265055
RELL1 RELT-like 1 0.2646
NCAM1 neural cell adhesion molecule 1 0.264488
ARHGAP21 Rho GTPase activating protein 21 0.264155
DCUN1D1 DCN1, defective in cullin neddylation 1, domain containing 1 0.264045
PDE1A phosphodiesterase 1A, calmodulin-dependent 0.264045
TMEM30C transmembrane protein 30C 0.263936
GREM2 gremlin 2, DAN family BMP antagonist 0.263719
KLHL38 kelch-like family member 38 0.263082
CHD6 chromodomain helicase DNA binding protein 6 0.262874
LOC646736 uncharacterized LOC646736 0.260904
GXYLT1 glucoside xylosyltransferase 1 0.259808
ELL elongation factor RNA polymerase II 0.259455
NUB1 negative regulator of ubiquitin-like proteins 1 0.259281
TACR1 tachykinin receptor 1 0.259023
SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 0.258937
RSU1 Ras suppressor protein 1 0.258768
SULF2 sulfatase 2 0.258599
TPRG1 tumor protein p63 regulated 1 0.258516
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 0.258432
TECR trans-2,3-enoyl-CoA reductase 0.257971
DYSF dysferlin 0.257782
SORBS2 sorbin and SH3 domain containing 2 0.257688
NKAIN2 Na+/K+ transporting ATPase interacting 2 0.256951
GRM7 glutamate receptor, metabotropic 7 0.254786
APCDD1L adenomatosis polyposis coli down-regulated 1-like 0.254786
FBLN1 fibulin 1 0.254704
CHODL chondrolectin 0.253736
LRP4 low density lipoprotein receptor-related protein 4 0.252959
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 0.252581
TULP4 tubby like protein 4 0.252356
MRPL53 mitochondrial ribosomal protein L53 0.251055
CLHC1 clathrin heavy chain linker domain containing 1 0.250914
MOGS mannosyl-oligosaccharide glucosidase 0.250226
B3GALTL beta 1,3-galactosyltransferase-like 0.250091
LRRC16A leucine rich repeat containing 16A 0.249956
PCLO piccolo presynaptic cytomatrix protein 0.249296
RRP1B ribosomal RNA processing 1B 0.249166
NALCN sodium leak channel, non selective 0.248908
HMGCLL1 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 0.248339
TTC39B tetratricopeptide repeat domain 39B 0.248277
MYO5C myosin VC 0.248277
KCTD14 potassium channel tetramerization domain containing 14 0.246946
LPCAT1 lysophosphatidylcholine acyltransferase 1 0.246025
MYT1L myelin transcription factor 1-like 0.245969
SLIT2 slit homolog 2 (Drosophila) 0.245801
CHL1 cell adhesion molecule L1-like 0.245689
PRDM11 PR domain containing 11 0.245413
DEPTOR DEP domain containing MTOR-interacting protein 0.24514
RAD51B RAD51 paralog B 0.245032
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa 0.243067
IYD iodotyrosine deiodinase 0.242969
ZBTB20 zinc finger and BTB domain containing 20 0.24126
SPRED2 sprouty-related, EVH1 domain containing 2 0.241215
ADARB2 adenosine deaminase, RNA-specific, B2 (non-functional) 0.237717
MUC22 mucin 22 0.237717
GRIK4 glutamate receptor, ionotropic, kainate 4 0.235351
KIAA1107 KIAA1107 0.23439
DNAH14 dynein, axonemal, heavy chain 14 0.233276
TIAM1 T-cell lymphoma invasion and metastasis 1 0.231321
ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 0.230859
PLG plasminogen 0.22887
WWOX WW domain containing oxidoreductase 0.227672
UBQLNL ubiquilin-like 0.227482