primary immunodeficiency disease Gene Set

Dataset DISEASES Experimental Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. (Human Disease Ontology, DOID_612)
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Genes

10 genes associated with the disease primary immunodeficiency disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1 1.84115
HLA-DRB1 major histocompatibility complex, class II, DR beta 1 1.83302
IFIH1 interferon induced with helicase C domain 1 0.647573
CLEC16A C-type lectin domain family 16, member A 0.368757
SIPA1L2 signal-induced proliferation-associated 1 like 2 0.256228
DGKZ diacylglycerol kinase, zeta 0.197766
SHFM1 split hand/foot malformation (ectrodactyly) type 1 0.197766
SUCNR1 succinate receptor 1 0.15771
FAS Fas cell surface death receptor 0.080593
LINGO2 leucine rich repeat and Ig domain containing 2 0.043246