severe combined immunodeficiency Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A combined T cell and B cell immunodeficiency that is caused by a defect in several genes encoding for B and T lymphocytes resulting in individuals with non-functional immune systems. (Human Disease Ontology, DOID_627)
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Genes

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

Symbol Name Standardized Value
ADA adenosine deaminase 2.70747
IL2RG interleukin 2 receptor, gamma 2.45798
JAK3 Janus kinase 3 2.11974
RAG1 recombination activating gene 1 1.94971
CD34 CD34 molecule 1.9136
DCLRE1C DNA cross-link repair 1C 1.90381
RAG2 recombination activating gene 2 1.85501
RFXAP regulatory factor X-associated protein 1.81239
PRKDC protein kinase, DNA-activated, catalytic polypeptide 1.81149
CD4 CD4 molecule 1.7546
LMO2 LIM domain only 2 (rhombotin-like 1) 1.73231
RFX5 regulatory factor X, 5 (influences HLA class II expression) 1.73094
IL2 interleukin 2 1.54407
CD3G CD3g molecule, gamma (CD3-TCR complex) 1.50052
RFX1 regulatory factor X, 1 (influences HLA class II expression) 1.45485
CIITA class II, major histocompatibility complex, transactivator 1.44254
CD3D CD3d molecule, delta (CD3-TCR complex) 1.36858
PNP purine nucleoside phosphorylase 1.34722
IL7R interleukin 7 receptor 1.33283
CD38 CD38 molecule 1.31319
AK2 adenylate kinase 2 1.28173
IL2RA interleukin 2 receptor, alpha 1.24428
RFXANK regulatory factor X-associated ankyrin-containing protein 1.22215
AHCY adenosylhomocysteinase 1.20007
NOG noggin 1.13501
LIG4 ligase IV, DNA, ATP-dependent 1.13163
PLAU plasminogen activator, urokinase 1.10258
CD19 CD19 molecule 1.08663
HOXB4 homeobox B4 1.08286
ORAI1 ORAI calcium release-activated calcium modulator 1 1.069
TRAC T cell receptor alpha constant 1.00879
SH2D1A SH2 domain containing 1A 0.996549
JAK1 Janus kinase 1 0.995283
TADA1 transcriptional adaptor 1 0.988535
CD40 CD40 molecule, TNF receptor superfamily member 5 0.94078
CD40LG CD40 ligand 0.939534
IL7 interleukin 7 0.938704
CORO1A coronin, actin binding protein, 1A 0.934556
THY1 Thy-1 cell surface antigen 0.926692
HLA-C major histocompatibility complex, class I, C 0.923387
NHEJ1 nonhomologous end-joining factor 1 0.905265
NANOG Nanog homeobox 0.904854
CD79A CD79a molecule, immunoglobulin-associated alpha 0.85404
XRCC6 X-ray repair complementing defective repair in Chinese hamster cells 6 0.85404
CD44 CD44 molecule (Indian blood group) 0.838066
STIM1 stromal interaction molecule 1 0.837656
ADK adenosine kinase 0.833968
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 0.820437
FOXN1 forkhead box N1 0.808949
PROM1 prominin 1 0.806488
ATN1 atrophin 1 0.803616
SRC SRC proto-oncogene, non-receptor tyrosine kinase 0.793771
DOCK8 dedicator of cytokinesis 8 0.776977
PGK1 phosphoglycerate kinase 1 0.763494
HACD1 3-hydroxyacyl-CoA dehydratase 1 0.748424
HLA-A major histocompatibility complex, class I, A 0.745172
THPO thrombopoietin 0.734217
CXCL12 chemokine (C-X-C motif) ligand 12 0.71925
LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 0.713198
IL4 interleukin 4 0.701526
FLT3 fms-related tyrosine kinase 3 0.699116
IL6 interleukin 6 0.691896
SEC11A SEC11 homolog A (S. cerevisiae) 0.685891
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) 0.676308
SP110 SP110 nuclear body protein 0.673518
OR4N4 olfactory receptor, family 4, subfamily N, member 4 0.66755
MEIG1 meiosis/spermiogenesis associated 1 0.663578
AGBL2 ATP/GTP binding protein-like 2 0.6608
SOX2 SRY (sex determining region Y)-box 2 0.658422
TMPO thymopoietin 0.651298
IL15 interleukin 15 0.644981
TYK2 tyrosine kinase 2 0.641827
TNF tumor necrosis factor 0.640645
TP53 tumor protein p53 0.63042
BTK Bruton agammaglobulinemia tyrosine kinase 0.629635
ITGAL integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 0.623359
CECR1 cat eye syndrome chromosome region, candidate 1 0.620226
HLA-B major histocompatibility complex, class I, B 0.620226
LRRC2 leucine rich repeat containing 2 0.616703
NOTCH1 notch 1 0.610057
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4 0.610057
BMI1 BMI1 proto-oncogene, polycomb ring finger 0.598351
FOXP3 forkhead box P3 0.597181
JAK2 Janus kinase 2 0.596402
IL3 interleukin 3 0.588612
ICAM1 intercellular adhesion molecule 1 0.587444
NOLC1 nucleolar and coiled-body phosphoprotein 1 0.58005
CD247 CD247 molecule 0.572273
LCK LCK proto-oncogene, Src family tyrosine kinase 0.566831
CHD9 chromodomain helicase DNA binding protein 9 0.566054
IL10 interleukin 10 0.559839
CD69 CD69 molecule 0.55712
CDK2AP2 cyclin-dependent kinase 2 associated protein 2 0.550134
PTPN12 protein tyrosine phosphatase, non-receptor type 12 0.549359
FASLG Fas ligand (TNF superfamily, member 6) 0.545868
MFNG MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase 0.544705
IL21 interleukin 21 0.543155
PTPRD protein tyrosine phosphatase, receptor type, D 0.542767
NCAM1 neural cell adhesion molecule 1 0.540055
GLB1 galactosidase, beta 1 0.537731
IGHV3-30 immunoglobulin heavy variable 3-30 0.536183
DCK deoxycytidine kinase 0.533861
SLC6A7 solute carrier family 6 (neurotransmitter transporter), member 7 0.532314
STAT5A signal transducer and activator of transcription 5A 0.532314
CD80 CD80 molecule 0.528835
KITLG KIT ligand 0.523816
CSF2 colony stimulating factor 2 (granulocyte-macrophage) 0.520346
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group) 0.51611
TAL1 T-cell acute lymphocytic leukemia 1 0.503058
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) 0.500379
CD5 CD5 molecule 0.499997
ATM ATM serine/threonine kinase 0.499614
NT5E 5'-nucleotidase, ecto (CD73) 0.497321
NFX1 nuclear transcription factor, X-box binding 1 0.491978
HBA1 hemoglobin, alpha 1 0.487788
CT83 cancer/testis antigen 83 0.487407
EFNA5 ephrin-A5 0.478289
TSPO translocator protein (18kDa) 0.473361
HES3 hes family bHLH transcription factor 3 0.471089
CD7 CD7 molecule 0.469954
CASP3 caspase 3, apoptosis-related cysteine peptidase 0.467306
HBA2 hemoglobin, alpha 2 0.465794
TERT telomerase reverse transcriptase 0.464283
NFYA nuclear transcription factor Y, alpha 0.450324
CYB5R3 cytochrome b5 reductase 3 0.449947
SEPT4 septin 4 0.449571
SELL selectin L 0.449571
ALB albumin 0.437906
ANK1 ankyrin 1, erythrocytic 0.436402
EXOC3 exocyst complex component 3 0.427015
CD86 CD86 molecule 0.425514
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) 0.424014
AHCYL2 adenosylhomocysteinase-like 2 0.419142
DNTT DNA nucleotidylexotransferase 0.418019
TGFB1 transforming growth factor, beta 1 0.415024
CD48 CD48 molecule 0.413153
CXCR4 chemokine (C-X-C motif) receptor 4 0.413153
MAT2B methionine adenosyltransferase II, beta 0.411657
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.411657
ABCB5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 0.410535
B2M beta-2-microglobulin 0.409787
PRF1 perforin 1 (pore forming protein) 0.409414
FLT3LG fms-related tyrosine kinase 3 ligand 0.401199
PSMA7 proteasome (prosome, macropain) subunit, alpha type, 7 0.390025
APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein 0.382966
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene) 0.378514
CERS5 ceramide synthase 5 0.378143
INS insulin 0.377402
IFNA1 interferon, alpha 1 0.37592
TTC7A tetratricopeptide repeat domain 7A 0.372958
RASSF8 Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 0.370737
NEUROG3 neurogenin 3 0.370737
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10 0.367779
UBE2G1 ubiquitin-conjugating enzyme E2G 1 0.363347
KLF4 Kruppel-like factor 4 (gut) 0.360764
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor) 0.359289
PTPRC protein tyrosine phosphatase, receptor type, C 0.35892
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1) 0.358551
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b 0.357077
CARD11 caspase recruitment domain family, member 11 0.354868
STAT1 signal transducer and activator of transcription 1, 91kDa 0.354131
SLC46A1 solute carrier family 46 (folate transporter), member 1 0.353763
SYK spleen tyrosine kinase 0.350452
CD33 CD33 molecule 0.350452
IL1A interleukin 1, alpha 0.349349
CCAR1 cell division cycle and apoptosis regulator 1 0.348981
RNASEH1 ribonuclease H1 0.348246
HRAS Harvey rat sarcoma viral oncogene homolog 0.346777
BCL2L1 BCL2-like 1 0.346409
RASSF7 Ras association (RalGDS/AF-6) domain family (N-terminal) member 7 0.346042
PLAC8 placenta-specific 8 0.343106
LARGE like-glycosyltransferase 0.339806
FN1 fibronectin 1 0.338707
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) 0.337975
NES nestin 0.336144
PDX1 pancreatic and duodenal homeobox 1 0.334681
CD27 CD27 molecule 0.32993
AK7 adenylate kinase 7 0.316456
TCF4 transcription factor 4 0.316456
EPCAM epithelial cell adhesion molecule 0.315729
B3GAT1 beta-1,3-glucuronyltransferase 1 0.315366
CD1C CD1c molecule 0.313915
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5 0.309566
CLEC12A C-type lectin domain family 12, member A 0.308118
TAPBP TAP binding protein (tapasin) 0.299452
CD3E CD3e molecule, epsilon (CD3-TCR complex) 0.296931
PASD1 PAS domain containing 1 0.295851
METAP2 methionyl aminopeptidase 2 0.295132
CDKN2A cyclin-dependent kinase inhibitor 2A 0.295132
NFAT5 nuclear factor of activated T-cells 5, tonicity-responsive 0.294772
PCNA proliferating cell nuclear antigen 0.292975
IL15RA interleukin 15 receptor, alpha 0.292616
STAT6 signal transducer and activator of transcription 6, interleukin-4 induced 0.292616
BCKDK branched chain ketoacid dehydrogenase kinase 0.291539
SOX1 SRY (sex determining region Y)-box 1 0.289027
IL1R1 interleukin 1 receptor, type I 0.289027
CCND2 cyclin D2 0.289027
AHCYL1 adenosylhomocysteinase-like 1 0.280439
MIR19A microRNA 19a 0.279011
CLCF1 cardiotrophin-like cytokine factor 1 0.276158
KREMEN1 kringle containing transmembrane protein 1 0.276158
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 0.272953
AOX1 aldehyde oxidase 1 0.270464
FER fer (fps/fes related) tyrosine kinase 0.268332
DHDH dihydrodiol dehydrogenase (dimeric) 0.265849
PREB prolactin regulatory element binding 0.26266
RPS6KA2 ribosomal protein S6 kinase, 90kDa, polypeptide 2 0.261952
VCAM1 vascular cell adhesion molecule 1 0.259477
HOXA3 homeobox A3 0.259477
EGFR epidermal growth factor receptor 0.255241
PYGB phosphorylase, glycogen; brain 0.254536
CERS1 ceramide synthase 1 0.251366
PYGL phosphorylase, glycogen, liver 0.251366
MECOM MDS1 and EVI1 complex locus 0.251015
LTK leukocyte receptor tyrosine kinase 0.250311
F9 coagulation factor IX 0.249257
PRMT6 protein arginine methyltransferase 6 0.243995
CCND1 cyclin D1 0.243995
LOC102724852 uncharacterized LOC102724852 0.242245
CYR61 cysteine-rich, angiogenic inducer, 61 0.241196
AR androgen receptor 0.237706
IL1B interleukin 1, beta 0.236312
JUND jun D proto-oncogene 0.234225
GHR growth hormone receptor 0.233878
RPL34 ribosomal protein L34 0.231795
NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 0.230755
HLA-DRB4 major histocompatibility complex, class II, DR beta 4 0.229024
PYGM phosphorylase, glycogen, muscle 0.227297
MMP2 matrix metallopeptidase 2 0.226952
SCIN scinderin 0.223165
SOX17 SRY (sex determining region Y)-box 17 0.219398
RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated) 0.219057
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 0.218715
FUT4 fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) 0.215314
THBS2 thrombospondin 2 0.214636
IRAK4 interleukin-1 receptor-associated kinase 4 0.210589
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6 0.208914
AMPD3 adenosine monophosphate deaminase 3 0.206913
EEF1A1P6 eukaryotic translation elongation factor 1 alpha 1 pseudogene 6 0.204593
MMP11 matrix metallopeptidase 11 0.202618
RAD54L RAD54-like (S. cerevisiae) 0.20229
KIF23 kinesin family member 23 0.199033
CXCL2 chemokine (C-X-C motif) ligand 2 0.196459
ERBB2 erb-b2 receptor tyrosine kinase 2 0.196139
IFNG interferon, gamma 0.193915
ITGB2 integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 0.1936
SRY sex determining region Y 0.191408
BEND3 BEN domain containing 3 0.191097
METAP1 methionyl aminopeptidase 1 0.190168
CXCL14 chemokine (C-X-C motif) ligand 14 0.189859
LY9 lymphocyte antigen 9 0.187415
IL17A interleukin 17A 0.18472
CERS2 ceramide synthase 2 0.183835
IL13 interleukin 13 0.183541
FGF2 fibroblast growth factor 2 (basic) 0.183248
CD93 CD93 molecule 0.182957
CD276 CD276 molecule 0.182666
LGALS1 lectin, galactoside-binding, soluble, 1 0.181798
AICDA activation-induced cytidine deaminase 0.181798
RAPH1 Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 0.180937
DEFA3 defensin, alpha 3, neutrophil-specific 0.180367
MYF5 myogenic factor 5 0.180084
CXCL8 chemokine (C-X-C motif) ligand 8 0.178403
CD83 CD83 molecule 0.176757
MTOR mechanistic target of rapamycin (serine/threonine kinase) 0.176215
CD1E CD1e molecule 0.173057
CBX3 chromobox homolog 3 0.171785
CD24 CD24 molecule 0.171286
CCL2 chemokine (C-C motif) ligand 2 0.170054
AKT1 v-akt murine thymoma viral oncogene homolog 1 0.169571
DLL1 delta-like 1 (Drosophila) 0.16933
PCGF2 polycomb group ring finger 2 0.168381
CD164 CD164 molecule, sialomucin 0.167915
IGF1 insulin-like growth factor 1 (somatomedin C) 0.166319
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase 0.165001
TFIP11 tuftelin interacting protein 11 0.164571
SLAMF6 SLAM family member 6 0.161716
GFI1B growth factor independent 1B transcription repressor 0.161716
CD84 CD84 molecule 0.158951
BAX BCL2-associated X protein 0.158266
CCR7 chemokine (C-C motif) receptor 7 0.158266
NELFCD negative elongation factor complex member C/D 0.157602
CORO1B coronin, actin binding protein, 1B 0.130648
CORO1C coronin, actin binding protein, 1C 0.127246
NT5C 5', 3'-nucleotidase, cytosolic 0.126711
AK1 adenylate kinase 1 0.12247
PTPRJ protein tyrosine phosphatase, receptor type, J 0.121731
NME4 NME/NM23 nucleoside diphosphate kinase 4 0.120614
GFI1 growth factor independent 1 transcription repressor 0.119998
BRWD1 bromodomain and WD repeat domain containing 1 0.119892
AGPS alkylglycerone phosphate synthase 0.119309
CKMT2 creatine kinase, mitochondrial 2 (sarcomeric) 0.119049
LMO1 LIM domain only 1 (rhombotin 1) 0.114596
KLRC1 killer cell lectin-like receptor subfamily C, member 1 0.1137
KLRD1 killer cell lectin-like receptor subfamily D, member 1 0.112881
DPYS dihydropyrimidinase 0.111642
PAPSS1 3'-phosphoadenosine 5'-phosphosulfate synthase 1 0.110001
CXCL11 chemokine (C-X-C motif) ligand 11 0.108017
USP6 ubiquitin specific peptidase 6 0.105158
NUDT10 nudix (nucleoside diphosphate linked moiety X)-type motif 10 0.104686
XBP1 X-box binding protein 1 0.104576
HLA-DMA major histocompatibility complex, class II, DM alpha 0.103501
TUB tubby bipartite transcription factor 0.102354
EEF1A1 eukaryotic translation elongation factor 1 alpha 1 0.101917
LAG3 lymphocyte-activation gene 3 0.101871
MICA MHC class I polypeptide-related sequence A 0.101756
GBA glucosidase, beta, acid 0.099714
BCL2L11 BCL2-like 11 (apoptosis facilitator) 0.099209
AIRE autoimmune regulator 0.098284
DUSP5 dual specificity phosphatase 5 0.097817
LYL1 lymphoblastic leukemia associated hematopoiesis regulator 1 0.097792
SBDS Shwachman-Bodian-Diamond syndrome 0.097596
LY6E lymphocyte antigen 6 complex, locus E 0.096468
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) 0.096393
ARAF A-Raf proto-oncogene, serine/threonine kinase 0.096267
STIL SCL/TAL1 interrupting locus 0.096089
WNT2B wingless-type MMTV integration site family, member 2B 0.095141
CFP complement factor properdin 0.093341
CD74 CD74 molecule, major histocompatibility complex, class II invariant chain 0.09233
CASQ2 calsequestrin 2 (cardiac muscle) 0.091629
CASQ1 calsequestrin 1 (fast-twitch, skeletal muscle) 0.090708
APRT adenine phosphoribosyltransferase 0.090102
TSLP thymic stromal lymphopoietin 0.08922
PRDM16 PR domain containing 16 0.087422
CAMK2B calcium/calmodulin-dependent protein kinase II beta 0.086967
HLA-E major histocompatibility complex, class I, E 0.085997
ADSL adenylosuccinate lyase 0.085449
PTPN6 protein tyrosine phosphatase, non-receptor type 6 0.08493
CRLF2 cytokine receptor-like factor 2 0.084581
IL4R interleukin 4 receptor 0.082792
IDS iduronate 2-sulfatase 0.081935
HLA-DRB5 major histocompatibility complex, class II, DR beta 5 0.081308
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1 0.080979
PKLR pyruvate kinase, liver and RBC 0.079778
RRM1 ribonucleotide reductase M1 0.079415
IRAK1 interleukin-1 receptor-associated kinase 1 0.07878
MEF2C myocyte enhancer factor 2C 0.078049
CRLF1 cytokine receptor-like factor 1 0.078019
VAV1 vav 1 guanine nucleotide exchange factor 0.077347
SOCS1 suppressor of cytokine signaling 1 0.076303
PI3 peptidase inhibitor 3, skin-derived 0.075964
HLA-DQB3 major histocompatibility complex, class II, DQ beta 3 0.075687
CD70 CD70 molecule 0.074728
PKM pyruvate kinase, muscle 0.074449
STAT5B signal transducer and activator of transcription 5B 0.074262
OAT ornithine aminotransferase 0.073048
PLCG1 phospholipase C, gamma 1 0.072735
MBL2 mannose-binding lectin (protein C) 2, soluble 0.071954
OTC ornithine carbamoyltransferase 0.071891
IRS1 insulin receptor substrate 1 0.070823
HPRT1 hypoxanthine phosphoribosyltransferase 1 0.07051