combined immunodeficiency Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A primary immunodeficiency disease that involves multiple components of the immune system, including both humoral immunity and cell-mediated immunity. (Human Disease Ontology, DOID_628)
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13 genes associated with the combined 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
AK2 adenylate kinase 2
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CHD7 chromodomain helicase DNA binding protein 7
DCLRE1C DNA cross-link repair 1C
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
LIG4 ligase IV, DNA, ATP-dependent
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa