cd40 deficiency Gene Set

Dataset DISEASES Text-mining 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 mutation in TNFRSF5 resulting in type 3 hyper-IgM immunodeficiency characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. (Human Disease Ontology, DOID_0060023)
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23 genes co-occuring with the disease cd40 deficiency in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
CD40LG CD40 ligand 1.63142
CD40 CD40 molecule, TNF receptor superfamily member 5 1.58046
TRAF5 TNF receptor-associated factor 5 1.02271
TRAF2 TNF receptor-associated factor 2 0.965405
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase 0.942443
RAG1 recombination activating gene 1 0.86018
IRF8 interferon regulatory factor 8 0.853221
IL12RB1 interleukin 12 receptor, beta 1 0.755749
GPR162 G protein-coupled receptor 162 0.66199
CYBB cytochrome b-245, beta polypeptide 0.659611
TRAF1 TNF receptor-associated factor 1 0.656837
TRAF3 TNF receptor-associated factor 3 0.638676
PHF1 PHD finger protein 1 0.624927
TNFRSF18 tumor necrosis factor receptor superfamily, member 18 0.609276
CLEC2B C-type lectin domain family 2, member B 0.606543
CSF1R colony stimulating factor 1 receptor 0.431519
CDK5 cyclin-dependent kinase 5 0.382966
VCAM1 vascular cell adhesion molecule 1 0.339806
LAMP3 lysosomal-associated membrane protein 3 0.25983
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha 0.237357
CD79A CD79a molecule, immunoglobulin-associated alpha 0.224196
STAT1 signal transducer and activator of transcription 1, 91kDa 0.194865
ICAM1 intercellular adhesion molecule 1 0.188326