Immunodeficiency Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0477325
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Genes

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

Symbol Name
ADAM17 ADAM metallopeptidase domain 17
ATN1 atrophin 1
ATP6AP1 ATPase, H+ transporting, lysosomal accessory protein 1
BABAM1 BRISC and BRCA1 A complex member 1
BCL10 B-cell CLL/lymphoma 10
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
CARD11 caspase recruitment domain family, member 11
CARMIL2 capping protein regulator and myosin 1 linker 2
CD19 CD19 molecule
CD22 CD22 molecule
CD247 CD247 molecule
CD27 CD27 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)
CD40LG CD40 ligand
CD81 CD81 molecule
CDCA7 cell division cycle associated 7
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CORO1A coronin, actin binding protein, 1A
CR2 complement component (3d/Epstein Barr virus) receptor 2
CTPS1 CTP synthase 1
CXCR4 chemokine (C-X-C motif) receptor 4
CXCR5 chemokine (C-X-C motif) receptor 5
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK2 dedicator of cytokinesis 2
DOPEY1 dopey family member 1
DUSP4 dual specificity phosphatase 4
E2F7 E2F transcription factor 7
EXO1 exonuclease 1
FANCD2 Fanconi anemia, complementation group D2
FANCI Fanconi anemia, complementation group I
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FOXN1 forkhead box N1
FRMPD1 FERM and PDZ domain containing 1
GGCT gamma-glutamylcyclotransferase
GINS1 GINS complex subunit 1 (Psf1 homolog)
GLTSCR1 glioma tumor suppressor candidate region gene 1
HELLS helicase, lymphoid-specific
ICOS inducible T-cell co-stimulator
IFNAR2 interferon (alpha, beta and omega) receptor 2
IFNG interferon, gamma
IFNGR1 interferon gamma receptor 1
IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1)
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IKZF1 IKAROS family zinc finger 1 (Ikaros)
IL12B interleukin 12B
IL12RB1 interleukin 12 receptor, beta 1
IL17RA interleukin 17 receptor A
IL2 interleukin 2
IL21 interleukin 21
IL21R interleukin 21 receptor
IL7 interleukin 7
IL7R interleukin 7 receptor
IRF2BP2 interferon regulatory factor 2 binding protein 2
IRF7 interferon regulatory factor 7
IRF8 interferon regulatory factor 8
ISG15 ISG15 ubiquitin-like modifier
KLRC4-KLRK1 KLRC4-KLRK1 readthrough
KLRK1 killer cell lectin-like receptor subfamily K, member 1
KMT2A lysine (K)-specific methyltransferase 2A
KRT20 keratin 20, type I
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LAT linker for activation of T cells
LCK LCK proto-oncogene, Src family tyrosine kinase
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
MAGT1 magnesium transporter 1
MALT1 MALT1 paracaspase
MME membrane metallo-endopeptidase
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSN moesin
MUS81 MUS81 structure-specific endonuclease subunit
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
PGM3 phosphoglucomutase 3
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
POMC proopiomelanocortin
PRKDC protein kinase, DNA-activated, catalytic polypeptide
RAD51 RAD51 recombinase
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1
RORC RAR-related orphan receptor C
SH2D1A SH2 domain containing 1A
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT2 signal transducer and activator of transcription 2, 113kDa
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
TFRC transferrin receptor
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF4 tumor necrosis factor receptor superfamily, member 4
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TP53BP1 tumor protein p53 binding protein 1
UHRF1 ubiquitin-like with PHD and ring finger domains 1
UNC119 unc-119 homolog (C. elegans)