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: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation UNIPROT Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. 31331973 2019
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		A 0.820 GeneticVariation CLINVAR c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis. 25541662 2014
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		T 0.820 CausalMutation CLINVAR c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis. 25541662 2014
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation BEFREE In contrast to those with AICDA mutation, small chromosome 1 q42 deletion and unknown genetic defect, the majority (10/14; 71.4%) with CD40L mutations except (Thr254Met) and an ataxia-telangiectasia patient had the severe form of HIGM phenotype. 23538518 2013
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		T 0.820 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: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		T 0.820 CausalMutation CLINVAR "Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called ""milder"" mutants." 17351759 2007
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		A 0.820 GeneticVariation CLINVAR The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship. 10484640 1999
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		T 0.820 CausalMutation CLINVAR The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship. 10484640 1999
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 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: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation BEFREE Three patients with X-linked hyper-IgM syndrome (XHIM), who were all asymptomatic until they developed B19-induced chronic anemia at the ages of 8, 14, and 17 years, respectively, were found to have mutations of the CD40L gene, including a missense mutation (T254M), a nonsense mutation resulting in a new initiation codon and loss of the intracellular domain (R11X), and a splice site mutation (nt 309+2t-->a). 9697710 1998
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation UNIPROT Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome. 9150729 1997
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		A 0.820 GeneticVariation CLINVAR Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. 8889581 1996
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation UNIPROT Mutation analysis in CD40 ligand deficiency leading to X-linked hypogammaglobulinemia with hyper IgM syndrome. 8889581 1996
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 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: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation UNIPROT Signaling through CD40 rescues IgE but not IgG or IgA secretion in X-linked immunodeficiency with hyper-IgM. 7532185 1995
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 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: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation UNIPROT Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. 7679206 1993
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation UNIPROT CD40 ligand gene defects responsible for X-linked hyper-IgM syndrome. 7679801 1993
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 GeneticVariation UNIPROT The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome. 7678782 1993
dbSNP: rs193922136
rs193922136
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.820 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 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 		0.810 GeneticVariation BEFREE Molecular analysis revealed a functional mutation across the CD40L gene (NM_000074: exon5: c.T464C) resulted in amino acid change p.L155P attributed to X-linked hyper IgM syndrome. 29525420 2019
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 Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. 9746782 1998