Severe Combined Immunodeficiency Gene Set

Dataset HuGE Navigator Gene-Phenotype 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)
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Genes

22 genes associated with the Severe Combined Immunodeficiency phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ADA adenosine deaminase
AICDA activation-induced cytidine deaminase
AR androgen receptor
BTK Bruton agammaglobulinemia tyrosine kinase
CD40LG CD40 ligand
DCLRE1C DNA cross-link repair 1C
IFNG interferon, gamma
IFNGR1 interferon gamma receptor 1
IL10 interleukin 10
IL1RN interleukin 1 receptor antagonist
IL2RG interleukin 2 receptor, gamma
IL7R interleukin 7 receptor
JAK3 Janus kinase 3
LIG4 ligase IV, DNA, ATP-dependent
PTPRC protein tyrosine phosphatase, receptor type, C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
SH2D1A SH2 domain containing 1A
TNF tumor necrosis factor
UNG uracil-DNA glycosylase
WAS Wiskott-Aldrich syndrome
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase