CD40LG, CD40 ligand, 959

N. diseases: 453; N. variants: 25
Disease: Hyperimmunoglobulin M syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0272236
Disease:
Hyperimmunoglobulin M syndrome 		T 0.700 CausalMutation CLINVAR First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes. 24402618 2014
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0272236
Disease:
Hyperimmunoglobulin M syndrome 		T 0.700 CausalMutation CLINVAR Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations. 19575287 2009
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0272236
Disease:
Hyperimmunoglobulin M syndrome 		T 0.700 CausalMutation CLINVAR "Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called ""milder"" mutants." 17351759 2007