severe combined immunodeficiency Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
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)
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Genes

13 genes involed in the disease severe combined immunodeficiency from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ADA adenosine deaminase
CD3D CD3d molecule, delta (CD3-TCR complex)
CIITA class II, major histocompatibility complex, transactivator
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
JAK3 Janus kinase 3
PTPRC protein tyrosine phosphatase, receptor type, C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa