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: rs3092936
rs3092936
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0856825
Disease:
Acute GVH disease 		0.010 GeneticVariation BEFREE Results The rs3092936 CC/CT genotype was associated with an increased risk of transplant-associated thrombotic microangiopathy ( P = .001), overall NRM ( P = .03), and NRM after acute graft-versus-host disease ( P = .01). 29369699 2018
dbSNP: rs3092936
rs3092936
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C2717961
Disease:
Thrombotic Microangiopathies 		0.010 GeneticVariation BEFREE Results The rs3092936 CC/CT genotype was associated with an increased risk of transplant-associated thrombotic microangiopathy ( P = .001), overall NRM ( P = .03), and NRM after acute graft-versus-host disease ( P = .01). 29369699 2018
dbSNP: rs11575982
rs11575982
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0010346
Disease:
Crohn Disease 		0.010 GeneticVariation BEFREE This study aimed to describe the first international report of hemizygous CD40LG c.542G>A mutation in a 5-year-old boy with a phenotype of Crohn's disease and hemophagocytic lymphohistiocytosis. 29303623 2017
dbSNP: rs11575982
rs11575982
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0024291
Disease:
Lymphohistiocytosis, Hemophagocytic 		0.010 GeneticVariation BEFREE This study aimed to describe the first international report of hemizygous CD40LG c.542G>A mutation in a 5-year-old boy with a phenotype of Crohn's disease and hemophagocytic lymphohistiocytosis. 29303623 2017
dbSNP: rs1126535
rs1126535
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0024530
Disease:
Malaria 		0.010 GeneticVariation BEFREE A GTGTGTC haplotype consisting of IL-1A (rs17561), IL-4 (rs2243250), TNF (rs1800750), IL-4R (rs1805015), NOS (rs8078340), CD40LG (rs1126535), and LUC7L (rs1211375) was significantly associated with the prevalence of malaria (POR: 1.822, 95% CI: 0.998-3.324). 26448013 2015
dbSNP: rs3092923
rs3092923
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0041327
Disease:
Tuberculosis, Pulmonary 		0.010 GeneticVariation BEFREE CD40LG rs3092923 and its combined effects with the other two SNPs were associated with an increased risk of pTB only in males. 26043172 2015
dbSNP: rs148594123
rs148594123
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.010 GeneticVariation BEFREE The polymorphism p.G219R of CD40L does not cause immunological alterations in vivo: conclusions from a X-linked hyper IgM syndrome kindred. 22750225 2012
dbSNP: rs1085307733
rs1085307733
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.010 GeneticVariation BEFREE Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis. 11038461 2000
dbSNP: rs1057521127
rs1057521127
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. 31331973 2019
dbSNP: rs1477466218
rs1477466218
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. 31331973 2019
dbSNP: rs756468554
rs756468554
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. 31331973 2019
dbSNP: rs886039326
rs886039326
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT Integrin Binding to the Trimeric Interface of CD40L Plays a Critical Role in CD40/CD40L Signaling. 31331973 2019
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
dbSNP: rs1057521127
rs1057521127
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs1477466218
rs1477466218
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs756468554
rs756468554
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs886039326
rs886039326
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		0.700 GeneticVariation UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
dbSNP: rs1569376930
rs1569376930
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		G 0.700 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: 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: rs1569376930
rs1569376930
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		G 0.700 GeneticVariation CLINVAR Cholangiocarcinoma complicating secondary sclerosing cholangitis from cryptosporidiosis in an adult patient with CD40 ligand deficiency: case report and review of the literature. 22678466 2012
dbSNP: rs1569376930
rs1569376930
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		G 0.700 GeneticVariation CLINVAR Clinical and molecular characterization of X-linked hyper-IgM syndrome patients in China. 20591076 2010
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
dbSNP: rs1569376229
rs1569376229
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		A 0.700 GeneticVariation CLINVAR Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. 15358621 2005
dbSNP: rs1569377829
rs1569377829
Entrez Id: 959
Gene Symbol: CD40LG
CD40LG
CUI: C0398689
Disease:
Hyper-IgM Immunodeficiency Syndrome, Type 1 		A 0.700 GeneticVariation CLINVAR Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. 15924140 2005