primary immunodeficiency disease Gene Set

Dataset GWASdb SNP-Disease Associations
Category disease or phenotype associations
Type disease
Description An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. (Human Disease Ontology, DOID_612)
External Link http://jjwanglab.org/gwasdb/gwasdb2/gwasdb2/go_trait/DOID:612
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Genes

245 genes associated with the disease primary immunodeficiency disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

Symbol Name Standardized Value
HSPA1L heat shock 70kDa protein 1-like 1.8811
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 1.77332
NOTCH4 notch 4 1.69039
BTNL2 butyrophilin-like 2 1.62931
NCR3 natural cytotoxicity triggering receptor 3 1.50906
GTF2H4 general transcription factor IIH, polypeptide 4, 52kDa 1.41623
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 1.09024
FCER1A Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 0.737109
TNXB tenascin XB 0.609897
IL13 interleukin 13 0.489088
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13 0.452375
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B 0.438494
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced 0.43435
ACKR1 atypical chemokine receptor 1 (Duffy blood group) 0.420692
CFH complement factor H 0.412517
IFIH1 interferon induced with helicase C domain 1 0.395171
ABCG1 ATP-binding cassette, sub-family G (WHITE), member 1 0.392126
GLIS3 GLIS family zinc finger 3 0.387321
C3 complement component 3 0.385936
CDH23 cadherin-related 23 0.37017
CNTN4 contactin 4 0.367624
CDK14 cyclin-dependent kinase 14 0.365609
HAVCR1 hepatitis A virus cellular receptor 1 0.358248
RAD50 RAD50 homolog (S. cerevisiae) 0.357293
FGF14 fibroblast growth factor 14 0.353425
MAN1C1 mannosidase, alpha, class 1C, member 1 0.352957
SNX31 sorting nexin 31 0.351532
IL4R interleukin 4 receptor 0.347621
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 0.345633
SRPX sushi-repeat containing protein, X-linked 0.343131
LINC00299 long intergenic non-protein coding RNA 299 0.340107
CLEC16A C-type lectin domain family 16, member A 0.340107
LAMB4 laminin, beta 4 0.339176
HLA-A major histocompatibility complex, class I, A 0.326769
LRP1 low density lipoprotein receptor-related protein 1 0.326008
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1 0.324729
ZBTB39 zinc finger and BTB domain containing 39 0.322847
WWP2 WW domain containing E3 ubiquitin protein ligase 2 0.320318
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 0.315789
LPP LIM domain containing preferred translocation partner in lipoma 0.31104
DGKZ diacylglycerol kinase, zeta 0.31104
UBE2R2 ubiquitin-conjugating enzyme E2R 2 0.310584
PNPLA6 patatin-like phospholipase domain containing 6 0.309135
TRPM3 transient receptor potential cation channel, subfamily M, member 3 0.308306
COL26A1 collagen, type XXVI, alpha 1 0.307731
ITGA11 integrin, alpha 11 0.301889
CRACR2A calcium release activated channel regulator 2A 0.299925
MICAL2 microtubule associated monooxygenase, calponin and LIM domain containing 2 0.298022
SUCLG2 succinate-CoA ligase, GDP-forming, beta subunit 0.297479
C5ORF56 chromosome 5 open reading frame 56 0.294759
FAS Fas cell surface death receptor 0.294629
CTNND2 catenin (cadherin-associated protein), delta 2 0.293968
SHC4 SHC (Src homology 2 domain containing) family, member 4 0.292797
SIK2 salt-inducible kinase 2 0.290382
ANGPT2 angiopoietin 2 0.289127
UBAP2 ubiquitin associated protein 2 0.288322
HLA-H major histocompatibility complex, class I, H (pseudogene) 0.287787
ZNRD1-AS1 ZNRD1 antisense RNA 1 0.287689
HLA-DPB1 major histocompatibility complex, class II, DP beta 1 0.284607
C2ORF83 chromosome 2 open reading frame 83 0.284475
HLA-J major histocompatibility complex, class I, J (pseudogene) 0.284215
AGBL1 ATP/GTP binding protein-like 1 0.284071
PRPH2 peripherin 2 (retinal degeneration, slow) 0.283605
DMD dystrophin 0.283151
CSMD2 CUB and Sushi multiple domains 2 0.283002
HDAC4 histone deacetylase 4 0.282562
CASR calcium-sensing receptor 0.281993
NRCAM neuronal cell adhesion molecule 0.281171
HSF2BP heat shock transcription factor 2 binding protein 0.278793
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 0.278677
MSI2 musashi RNA-binding protein 2 0.278331
TBC1D1 TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 0.27788
FOXP1 forkhead box P1 0.277441
DOT1L DOT1-like histone H3K79 methyltransferase 0.276387
MICA MHC class I polypeptide-related sequence A 0.276387
RBFOX1 RNA binding protein, fox-1 homolog (C. elegans) 1 0.275884
TBC1D31 TBC1 domain family, member 31 0.275884
PCDH15 protocadherin-related 15 0.275106
AKIRIN2 akirin 2 0.27409
CD86 CD86 molecule 0.27356
SRBD1 S1 RNA binding domain 1 0.273386
CARD14 caspase recruitment domain family, member 14 0.270676
MAK male germ cell-associated kinase 0.270529
C17ORF99 chromosome 17 open reading frame 99 0.269672
TRIM26 tripartite motif containing 26 0.269672
LRP1B low density lipoprotein receptor-related protein 1B 0.269327
LAMC3 laminin, gamma 3 0.267885
NRP1 neuropilin 1 0.267698
PPP2R2B protein phosphatase 2, regulatory subunit B, beta 0.266554
PPP2R1B protein phosphatase 2, regulatory subunit A, beta 0.266323
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast) 0.266266
FMN2 formin 2 0.266151
GABRR2 gamma-aminobutyric acid (GABA) A receptor, rho 2 0.266095
CSTA cystatin A (stefin A) 0.266038
HK2 hexokinase 2 0.265647
RFC3 replication factor C (activator 1) 3, 38kDa 0.265373
LOC440600 uncharacterized LOC440600 0.263325
MTCL1 microtubule crosslinking factor 1 0.263325
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 0.262849
SHROOM3 shroom family member 3 0.262523
MYH13 myosin, heavy chain 13, skeletal muscle 0.261452
MAP2 microtubule-associated protein 2 0.260322
EDAR ectodysplasin A receptor 0.260121
FAM162A family with sequence similarity 162, member A 0.259609
FAXC failed axon connections homolog (Drosophila) 0.259531
ECT2L epithelial cell transforming 2 like 0.259454
IRF8 interferon regulatory factor 8 0.259073
HCG9 HLA complex group 9 (non-protein coding) 0.258849
TMPRSS7 transmembrane protease, serine 7 0.258591
DRD2 dopamine receptor D2 0.257923
CDK6 cyclin-dependent kinase 6 0.257882
TIMMDC1 translocase of inner mitochondrial membrane domain containing 1 0.257477
CNTNAP2 contactin associated protein-like 2 0.257396
CD80 CD80 molecule 0.257356
MACROD2 MACRO domain containing 2 0.257317
C15ORF40 chromosome 15 open reading frame 40 0.256498
GSK3B glycogen synthase kinase 3 beta 0.25612
LVRN laeverin 0.256008
KCNIP1 Kv channel interacting protein 1 0.255859
OR10J1 olfactory receptor, family 10, subfamily J, member 1 0.255457
RELN reelin 0.255205
ASTL astacin-like metallo-endopeptidase (M12 family) 0.255063
AAA1 aortic aneurysm, familial abdominal 1 0.254641
ST6GALNAC3 ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 0.254195
GDE1 glycerophosphodiester phosphodiesterase 1 0.253528
RORA RAR-related orphan receptor A 0.253463
ETV5 ets variant 5 0.252725
PARP9 poly (ADP-ribose) polymerase family, member 9 0.252662
PTPDC1 protein tyrosine phosphatase domain containing 1 0.252259
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 0.251894
KIF26B kinesin family member 26B 0.251714
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) 0.251359
ADGRB1 adhesion G protein-coupled receptor B1 0.251097
PTPRG protein tyrosine phosphatase, receptor type, G 0.250981
AHI1 Abelson helper integration site 1 0.250781
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7 0.250555
ARHGAP31 Rho GTPase activating protein 31 0.249015
TRIM31 tripartite motif containing 31 0.248655
SRL sarcalumenin 0.248503
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific) 0.248377
SETBP1 SET binding protein 1 0.247759
CADM3 cell adhesion molecule 3 0.247303
CELF1 CUGBP, Elav-like family member 1 0.247161
DOCK2 dedicator of cytokinesis 2 0.247067
FGGY FGGY carbohydrate kinase domain containing 0.247067
GRM5 glutamate receptor, metabotropic 5 0.24688
SORCS2 sortilin-related VPS10 domain containing receptor 2 0.24658
MAP6D1 MAP6 domain containing 1 0.24624
OSBPL10 oxysterol binding protein-like 10 0.246173
ZNF622 zinc finger protein 622 0.245665
KPNA1 karyopherin alpha 1 (importin alpha 5) 0.245234
UBE2Q1 ubiquitin-conjugating enzyme E2Q family member 1 0.244917
ZNF664-FAM101A filamin-interacting protein FAM101A 0.243719
MARC1 mitochondrial amidoxime reducing component 1 0.24333
TK1 thymidine kinase 1, soluble 0.242948
RYR3 ryanodine receptor 3 0.242207
LRP6 low density lipoprotein receptor-related protein 6 0.240976
PDE4D phosphodiesterase 4D, cAMP-specific 0.240976
MYO18B myosin XVIIIB 0.240806
FOXN3 forkhead box N3 0.240638
CSMD1 CUB and Sushi multiple domains 1 0.239981
LETMD1 LETM1 domain containing 1 0.239981
DACH2 dachshund family transcription factor 2 0.23982
RAB11FIP4 RAB11 family interacting protein 4 (class II) 0.239661
ZNF185 zinc finger protein 185 (LIM domain) 0.239036
PHACTR2 phosphatase and actin regulator 2 0.238581
CAMKMT calmodulin-lysine N-methyltransferase 0.238283
DNMBP dynamin binding protein 0.237138
ARHGAP30 Rho GTPase activating protein 30 0.236591
RBM42 RNA binding motif protein 42 0.235289
RHBG Rh family, B glycoprotein (gene/pseudogene) 0.234549
CD46 CD46 molecule, complement regulatory protein 0.234429
PPFIA2 protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 0.234309
MMP27 matrix metallopeptidase 27 0.233606
FAM167A family with sequence similarity 167, member A 0.233606
ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 0.233378
CCDC50 coiled-coil domain containing 50 0.233041
MYEOV2 myeloma overexpressed 2 0.232819
GUCD1 guanylyl cyclase domain containing 1 0.232492
ZFHX3 zinc finger homeobox 3 0.232384
CNTN6 contactin 6 0.231646
C1ORF87 chromosome 1 open reading frame 87 0.231646
RELL1 RELT-like 1 0.231237
NCAM1 neural cell adhesion molecule 1 0.231136
ARHGAP21 Rho GTPase activating protein 21 0.230837
DCUN1D1 DCN1, defective in cullin neddylation 1, domain containing 1 0.230738
PDE1A phosphodiesterase 1A, calmodulin-dependent 0.230738
TMEM30C transmembrane protein 30C 0.23064
GREM2 gremlin 2, DAN family BMP antagonist 0.230445
KLHL38 kelch-like family member 38 0.229855
CHD6 chromodomain helicase DNA binding protein 6 0.229651
LOC646736 uncharacterized LOC646736 0.227724
GXYLT1 glucoside xylosyltransferase 1 0.226651
ELL elongation factor RNA polymerase II 0.226306
NUB1 negative regulator of ubiquitin-like proteins 1 0.226135
TACR1 tachykinin receptor 1 0.225883
SLC13A3 solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 0.225799
RSU1 Ras suppressor protein 1 0.225633
SULF2 sulfatase 2 0.225468
TPRG1 tumor protein p63 regulated 1 0.225386
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2 0.225305
TECR trans-2,3-enoyl-CoA reductase 0.224902
DYSF dysferlin 0.224744
SORBS2 sorbin and SH3 domain containing 2 0.224665
NKAIN2 Na+/K+ transporting ATPase interacting 2 0.224045
APCDD1L adenomatosis polyposis coli down-regulated 1-like 0.222224
GRM7 glutamate receptor, metabotropic 7 0.222224
FBLN1 fibulin 1 0.222155
CHODL chondrolectin 0.22134
LRP4 low density lipoprotein receptor-related protein 4 0.220686
PTPRZ1 protein tyrosine phosphatase, receptor-type, Z polypeptide 1 0.220367
TULP4 tubby like protein 4 0.220178
MRPL53 mitochondrial ribosomal protein L53 0.219081
CLHC1 clathrin heavy chain linker domain containing 1 0.218963
MOGS mannosyl-oligosaccharide glucosidase 0.218383
B3GALTL beta 1,3-galactosyltransferase-like 0.218269
LRRC16A leucine rich repeat containing 16A 0.218156
PCLO piccolo presynaptic cytomatrix protein 0.217599
RRP1B ribosomal RNA processing 1B 0.217489
NALCN sodium leak channel, non selective 0.217272
HMGCLL1 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 0.216792
TTC39B tetratricopeptide repeat domain 39B 0.216739
MYO5C myosin VC 0.216739
KCTD14 potassium channel tetramerization domain containing 14 0.215617
LPCAT1 lysophosphatidylcholine acyltransferase 1 0.214839
MYT1L myelin transcription factor 1-like 0.214791
SLIT2 slit homolog 2 (Drosophila) 0.214649
CHL1 cell adhesion molecule L1-like 0.214555
PRDM11 PR domain containing 11 0.214322
DEPTOR DEP domain containing MTOR-interacting protein 0.214092
RAD51B RAD51 paralog B 0.214
INPP4B inositol polyphosphate-4-phosphatase, type II, 105kDa 0.212341
IYD iodotyrosine deiodinase 0.212257
ZBTB20 zinc finger and BTB domain containing 20 0.210813
SPRED2 sprouty-related, EVH1 domain containing 2 0.210774
ADARB2 adenosine deaminase, RNA-specific, B2 (non-functional) 0.207814
MUC22 mucin 22 0.207814
GRIK4 glutamate receptor, ionotropic, kainate 4 0.20581
KIAA1107 KIAA1107 0.204995
DNAH14 dynein, axonemal, heavy chain 14 0.204051
TIAM1 T-cell lymphoma invasion and metastasis 1 0.202393
ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 0.202
PLG plasminogen 0.200313
WWOX WW domain containing oxidoreductase 0.199293
UBQLNL ubiquilin-like 0.199131