severe combined immunodeficiency Gene Set

Dataset	HPO Gene-Disease Associations
Category	disease or phenotype associations
Type	phenotype
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	http://compbio.charite.de/hpoweb/showterm?id=HP:0004430
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Genes

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

Symbol	Name
ADA	adenosine deaminase
AK2	adenylate kinase 2
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