Severe Combined Immunodeficiency Gene Set

Dataset DisGeNET Gene-Disease Associations
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)
External Link https://www.disgenet.org/browser/0/1/0/C1832322
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Genes

279 genes associated with the disease Severe Combined Immunodeficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCE1 ATP-binding cassette, sub-family E (OABP), member 1
ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase
ACP3 acid phosphatase 3
ACTB actin, beta
ACTN4 actinin, alpha 4
ACTR2 ARP2 actin-related protein 2 homolog (yeast)
ADA adenosine deaminase
ADK adenosine kinase
ADO 2-aminoethanethiol (cysteamine) dioxygenase
ADSL adenylosuccinate lyase
AICDA activation-induced cytidine deaminase
AIRE autoimmune regulator
AK2 adenylate kinase 2
ALB albumin
AMACR alpha-methylacyl-CoA racemase
ANGPTL2 angiopoietin-like 2
ANXA2 annexin A2
APBB1IP amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein
ASAP1 ArfGAP with SH3 domain, ankyrin repeat and PH domain 1
ASAP2 ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
ATM ATM serine/threonine kinase
ATN1 atrophin 1
B2M beta-2-microglobulin
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BCL2 B-cell CLL/lymphoma 2
BCL6 B-cell CLL/lymphoma 6
BTK Bruton agammaglobulinemia tyrosine kinase
C1QBP complement component 1, q subcomponent binding protein
CALCA calcitonin-related polypeptide alpha
CAMP cathelicidin antimicrobial peptide
CARD11 caspase recruitment domain family, member 11
CARD9 caspase recruitment domain family, member 9
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCDC54 coiled-coil domain containing 54
CCN1 cellular communication network factor 1
CCND1 cyclin D1
CCND2 cyclin D2
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD19 CD19 molecule
CD247 CD247 molecule
CD28 CD28 molecule
CD34 CD34 molecule
CD38 CD38 molecule
CD3D CD3d molecule, delta (CD3-TCR complex)
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD3G CD3g molecule, gamma (CD3-TCR complex)
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD82 CD82 molecule
CDH17 cadherin 17, LI cadherin (liver-intestine)
CDH3 cadherin 3, type 1, P-cadherin (placental)
CDK2 cyclin-dependent kinase 2
CDK4 cyclin-dependent kinase 4
CDKN2A cyclin-dependent kinase inhibitor 2A
CEACAM3 carcinoembryonic antigen-related cell adhesion molecule 3
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5
CEACAM7 carcinoembryonic antigen-related cell adhesion molecule 7
CER1 cerberus 1, DAN family BMP antagonist
CHD7 chromodomain helicase DNA binding protein 7
COL18A1 collagen, type XVIII, alpha 1
CORO1A coronin, actin binding protein, 1A
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSF3 colony stimulating factor 3 (granulocyte)
CTCF CCCTC-binding factor (zinc finger protein)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTPS1 CTP synthase 1
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL14 chemokine (C-X-C motif) ligand 14
CXCR2 chemokine (C-X-C motif) receptor 2
CXCR4 chemokine (C-X-C motif) receptor 4
CYBB cytochrome b-245, beta polypeptide
CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2
DCLRE1A DNA cross-link repair 1A
DCLRE1C DNA cross-link repair 1C
DHFR dihydrofolate reductase
DMD dystrophin
DOCK2 dedicator of cytokinesis 2
DOCK8 dedicator of cytokinesis 8
DPP4 dipeptidyl-peptidase 4
E2F1 E2F transcription factor 1
EBI3 Epstein-Barr virus induced 3
EMP2 epithelial membrane protein 2
ENG endoglin
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
EPCAM epithelial cell adhesion molecule
EPHA2 EPH receptor A2
EPHA3 EPH receptor A3
ERBB2 erb-b2 receptor tyrosine kinase 2
EXTL3 exostosin-like glycosyltransferase 3
F3 coagulation factor III (thromboplastin, tissue factor)
F9 coagulation factor IX
FN1 fibronectin 1
FOXM1 forkhead box M1
FOXN1 forkhead box N1
FOXP3 forkhead box P3
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
GHR growth hormone receptor
GPC5 glypican 5
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIF3A hypoxia inducible factor 3, alpha subunit
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HPCA hippocalcin
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HPSE heparanase
IER3 immediate early response 3
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNAR2 interferon (alpha, beta and omega) receptor 2
IFNG interferon, gamma
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IL10 interleukin 10
IL15 interleukin 15
IL18 interleukin 18
IL18R1 interleukin 18 receptor 1
IL1B interleukin 1, beta
IL2 interleukin 2
IL21 interleukin 21
IL21R interleukin 21 receptor
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL2RA interleukin 2 receptor, alpha
IL2RB interleukin 2 receptor, beta
IL2RG interleukin 2 receptor, gamma
IL3 interleukin 3
IL4 interleukin 4
IL6 interleukin 6
IL7 interleukin 7
IL7R interleukin 7 receptor
IL9 interleukin 9
INA internexin neuronal intermediate filament protein, alpha
ITGAV integrin, alpha V
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
ITPA inosine triphosphatase (nucleoside triphosphate pyrophosphatase)
JAK2 Janus kinase 2
JAK3 Janus kinase 3
KLF4 Kruppel-like factor 4 (gut)
KLK3 kallikrein-related peptidase 3
KLK6 kallikrein-related peptidase 6
KRT20 keratin 20, type I
LAT linker for activation of T cells
LBR lamin B receptor
LCK LCK proto-oncogene, Src family tyrosine kinase
LDHC lactate dehydrogenase C
LDLR low density lipoprotein receptor
LDLRAP1 low density lipoprotein receptor adaptor protein 1
LGALS1 lectin, galactoside-binding, soluble, 1
LGR5 leucine-rich repeat containing G protein-coupled receptor 5
LIG4 ligase IV, DNA, ATP-dependent
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
LTF lactotransferrin
MELTF melanotransferrin
MIA melanoma inhibitory activity
MLANA melan-A
MME membrane metallo-endopeptidase
MMP1 matrix metallopeptidase 1
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP9 matrix metallopeptidase 9
MPL MPL proto-oncogene, thrombopoietin receptor
MRPS30 mitochondrial ribosomal protein S30
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MTA2 metastasis associated 1 family, member 2
MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
MTHFD1L methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like
MTPAP mitochondrial poly(A) polymerase
MUC1 mucin 1, cell surface associated
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYD88 myeloid differentiation primary response 88
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYO1E myosin IE
MYOC myocilin, trabecular meshwork inducible glucocorticoid response
NBN nibrin
NCAM1 neural cell adhesion molecule 1
NCF1 neutrophil cytosolic factor 1
NHEJ1 nonhomologous end-joining factor 1
NLRP2 NLR family, pyrin domain containing 2
NLRP3 NLR family, pyrin domain containing 3
NME1 NME/NM23 nucleoside diphosphate kinase 1
NNMT nicotinamide N-methyltransferase
NOD1 nucleotide-binding oligomerization domain containing 1
NOTCH1 notch 1
NT5C2 5'-nucleotidase, cytosolic II
NT5E 5'-nucleotidase, ecto (CD73)
ORAI1 ORAI calcium release-activated calcium modulator 1
OTC ornithine carbamoyltransferase
PAEP progestagen-associated endometrial protein
PAPOLA poly(A) polymerase alpha
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PARP1 poly (ADP-ribose) polymerase 1
PAX1 paired box 1
PCNA proliferating cell nuclear antigen
PDAP1 PDGFA associated protein 1
PDHX pyruvate dehydrogenase complex, component X
PDLIM7 PDZ and LIM domain 7 (enigma)
PDPN podoplanin
PDX1 pancreatic and duodenal homeobox 1
PECAM1 platelet/endothelial cell adhesion molecule 1
PGM3 phosphoglucomutase 3
PHB2 prohibitin 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKIG protein kinase (cAMP-dependent, catalytic) inhibitor gamma
PLAU plasminogen activator, urokinase
PNP purine nucleoside phosphorylase
POTEF POTE ankyrin domain family, member F
POU1F1 POU class 1 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PRKDC protein kinase, DNA-activated, catalytic polypeptide
PRM3 protamine 3
PRMT6 protein arginine methyltransferase 6
PROM1 prominin 1
PSG2 pregnancy specific beta-1-glycoprotein 2
PSMA6 proteasome (prosome, macropain) subunit, alpha type, 6
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPRC protein tyrosine phosphatase, receptor type, C
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RASGRP3 RAS guanyl releasing protein 3 (calcium and DAG-regulated)
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
REG3A regenerating islet-derived 3 alpha
RET ret proto-oncogene
RFXAP regulatory factor X-associated protein
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
RPS19 ribosomal protein S19
RTL1 retrotransposon-like 1
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC46A1 solute carrier family 46 (folate transporter), member 1
SMN1 survival of motor neuron 1, telomeric
SOAT1 sterol O-acyltransferase 1
SOX1 SRY (sex determining region Y)-box 1
SP110 SP110 nuclear body protein
SPA17 sperm autoantigenic protein 17
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SRGN serglycin
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
STIM1 stromal interaction molecule 1
STMN1 stathmin 1
SYK spleen tyrosine kinase
TAPBP TAP binding protein (tapasin)
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TBX1 T-box 1
TCN2 transcobalamin II
TEK TEK tyrosine kinase, endothelial
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
TGFBR1 transforming growth factor, beta receptor 1
THRB thyroid hormone receptor, beta
THY1 Thy-1 cell surface antigen
TLR2 toll-like receptor 2
TMEM206 transmembrane protein 206
TNF tumor necrosis factor
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TP53 tumor protein p53
TP63 tumor protein p63
TTC7A tetratricopeptide repeat domain 7A
TUSC2 tumor suppressor candidate 2
TWSG1 twisted gastrulation BMP signaling modulator 1
TYRP1 tyrosinase-related protein 1
UROD uroporphyrinogen decarboxylase
VEGFA vascular endothelial growth factor A
VIM vimentin
VTN vitronectin
WDTC1 WD and tetratricopeptide repeats 1
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
XRCC5 X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa