cellular 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:0005374
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Genes

31 genes associated with the cellular 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
AK2 adenylate kinase 2
ATM ATM serine/threonine kinase
CHD7 chromodomain helicase DNA binding protein 7
CTC1 CTS telomere maintenance complex component 1
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
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
NHEJ1 nonhomologous end-joining factor 1
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
RAG1 recombination activating gene 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RTEL1 regulator of telomere elongation helicase 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SH2D1A SH2 domain containing 1A
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
TBCE tubulin folding cofactor E
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
USB1 U6 snRNA biogenesis 1
WRAP53 WD repeat containing, antisense to TP53
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
ZBTB24 zinc finger and BTB domain containing 24