CD40LG, CD40 ligand, 959

N. diseases: 453; N. variants: 25
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. 8889581 1996
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. 31331973 2019
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. 7678782 1993
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome. 9150729 1997
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. 7679206 1993
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. 7717401 1995
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM. 7532185 1995
dbSNP: rs104894768
rs104894768
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.800 GeneticVariation UNIPROT Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. 9746782 1998
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. 7679206 1993
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. 7678782 1993
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM. 8094231 1993
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. 8550833 1996
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM. 7532185 1995
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome. 9150729 1997
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. 8889581 1996
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. 7717401 1995
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. 31331973 2019
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		C 0.810 CausalMutation CLINVAR
dbSNP: rs104894769
rs104894769
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.810 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993