CD40LG, CD40 ligand, 959

N. diseases: 453; N. variants: 25
Disease: Hyper-IgM Immunodeficiency Syndrome, Type 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1387503550
rs1387503550
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		C 0.700 CausalMutation CLINVAR Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics. 29077208 2018