immunodeficiency Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002721
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Genes

63 genes associated with the immunodeficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACP5 acid phosphatase 5, tartrate resistant
ADA adenosine deaminase
AICDA activation-induced cytidine deaminase
AK2 adenylate kinase 2
ATM ATM serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CARD9 caspase recruitment domain family, member 9
CD247 CD247 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
CECR1 cat eye syndrome chromosome region, candidate 1
CHD7 chromodomain helicase DNA binding protein 7
CTC1 CTS telomere maintenance complex component 1
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DCLRE1C DNA cross-link repair 1C
DKC1 dyskeratosis congenita 1, dyskerin
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK8 dedicator of cytokinesis 8
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FOXN1 forkhead box N1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GRIP1 glutamate receptor interacting protein 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LIG4 ligase IV, DNA, ATP-dependent
MALT1 MALT1 paracaspase
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NHEJ1 nonhomologous end-joining factor 1
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
PGM3 phosphoglucomutase 3
POLE polymerase (DNA directed), epsilon, catalytic subunit
PRPS1 phosphoribosyl pyrophosphate synthetase 1
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RTEL1 regulator of telomere elongation helicase 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SH2D1A SH2 domain containing 1A
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SP110 SP110 nuclear body protein
TBCE tubulin folding cofactor E
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TYK2 tyrosine kinase 2
UNG uracil-DNA glycosylase
USB1 U6 snRNA biogenesis 1
WRAP53 WD repeat containing, antisense to TP53
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZBTB24 zinc finger and BTB domain containing 24