CD40, CD40 molecule, 958

N. diseases: 528; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hyper-IgM Immunodeficiency Syndrome, Type 3
0.700 GeneticVariation disease UNIPROT Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients. 26545377 2016
Hyper-IgM Immunodeficiency Syndrome, Type 3
0.700 Biomarker disease GENOMICS_ENGLAND First report of successful stem cell transplantation in a child with CD40 deficiency. 17502893 2007
Hyper-IgM Immunodeficiency Syndrome, Type 3
0.700 GermlineCausalMutation disease ORPHANET Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. 11675497 2001
Hyper-IgM Immunodeficiency Syndrome, Type 3
0.700 GeneticVariation disease UNIPROT Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. 11675497 2001
Hyper-IgM Immunodeficiency Syndrome, Type 3
0.700 Biomarker disease CTD_human
Hyper-IgM Immunodeficiency Syndrome, Type 3
0.700 CausalMutation disease CLINVAR
Hyper-IgM Immunodeficiency Syndrome, Type 3
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0028754
Disease: Obesity
Obesity
0.520 Biomarker disease BEFREE CD40-CD40L signaling plays a central role in obesity-induced inflammation. 30096208 2018
CUI: C0028754
Disease: Obesity
Obesity
0.520 Biomarker disease CTD_human Expression levels of macrophage genes (CD68, CD11b, CD206, CD16, CD40, and CD163) were lower in skeletal muscle tissue of obese versus lean participants. 29035695 2018
CUI: C0028754
Disease: Obesity
Obesity
0.520 AlteredExpression disease BEFREE Finally, levels of soluble CD40 showed a positive association with obesity in humans, suggesting clinical relevance of our findings. 24664276 2014
CUI: C0028754
Disease: Obesity
Obesity
0.520 Therapeutic disease RGD Effect of enhanced glycemic control with saxagliptin on endothelial nitric oxide release and CD40 levels in obese rats. 21670556 2011
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease GWASCAT Genetic influences on susceptibility to rheumatoid arthritis in African-Americans. 30423114 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE The expansion of a CD4 + T cell subpopulation expressing CD40 was identified in the RA group. 31313080 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease BEFREE Although blockade of the CD40-CD40L pathway with BI 655064 in MTX-IR patients with RA resulted in marked changes in clinical and biological parameters, including reductions in activated B-cells, autoantibody production and inflammatory and bone resorption markers, with a favourable safety profile, clinical efficacy was not demonstrated in this small phase IIa study. 30902820 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE In fact, CD40 pathways is especially operative in B cells, that are currently a major therapeutic target in MS field. 30837932 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 AlteredExpression disease BEFREE CD40 is highly expressed on MHCII<sup>+</sup> B cells, dendritic cells and macrophages in human MS lesions. 30471110 2019
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE Infected B cell proliferation is driven by signalling through the EBV produced cell surface protein LMP1, a homologue of the MS risk gene CD40. 31039804 2019
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE Genetic studies have implicated both CD40 and tumour necrosis factor receptor-associated factor-1 (TRAF1) with rheumatoid arthritis (RA). 30735108 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE Using flow cytometry we measured surface expression of CD40 and CD86 in B cells from 68 patients and 162 healthy controls that were genotyped for the multiple sclerosis associated single nucleotide polymorphisms (SNPs) rs4810485, which maps within the CD40 gene, and rs9282641, which maps within the CD86 gene. 29361022 2018
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE TLR4 and CD40 co-stimulation synergistically increased the frequency of IL-10-producing but not pro-inflammatory cytokine-producing B cells at MS relapse. 29146546 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 GeneticVariation disease BEFREE CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP). 29254239 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.500 Biomarker disease BEFREE In conclusion, our data suggest that therapeutic CD40-CD40L blocking agents may prove efficacious not only in early and established RA, but also in inhibiting the progression of the disease from arthralgia or UA to RA. 28455435 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Strategies that aim to inhibit leukocyte migration across the blood-brain barrier (BBB) are therefore regarded as promising therapeutic approaches to combat MS. As the CD40L-CD40 dyad signals via TNF receptor-associated factor 6 (TRAF6) in myeloid cells to induce inflammation and leukocyte trafficking, we explored the hypothesis that specific inhibition of CD40-TRAF6 interactions can ameliorate neuro-inflammation. 28494768 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Here, we discuss the genetic, experimental and clinical studies on the role of CD40 and CD40L interactions in EAE and MS and we explore novel approaches to therapeutically target this dyad to combat neuroinflammatory diseases. 29312317 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE CD40-CD154 interaction is critically involved in autoimmune diseases, and CD4 T cells play a dominant role in the Experimental Autoimmune Encephalomyelitis (EAE) model of Multiple Sclerosis (MS). 28192476 2017