Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 Biomarker disease BEFREE Successful Treatment of Myasthenia Gravis Following PD-1/CTLA-4 Combination Checkpoint Blockade in a Patient With Metastatic Melanoma. 30828569 2019
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 GeneticVariation disease BEFREE We investigated the association of polymorphism in CTLA-4 gene with the clinical variables and severity of MG. 31473094 2019
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 Biomarker disease BEFREE Myasthenia gravis and encephalitis were associated with anti-PD-1 whereas other neurologic AEs were associated with anti-CTLA-4. 31118078 2019
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 Biomarker disease BEFREE To assess the correlations between CTLA-4 SNPs and MG susceptibility, a meta-analysis was performed following a series of database searching. 30009380 2018
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 PosttranslationalModification disease BEFREE In conclusion, the results obtained from the present study highly indicated that CTLA-4 methylation might play a role in facilitating the occurrence of MG and increasing the expressions of related cytokines through the upregulation of AchR-Ab and E-Ach. 29718870 2018
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 GeneticVariation disease BEFREE Dysregulation of suppressive and migratory markers on Tregs have been linked to the pathogenesis of both MS and MG. For example, genetic abnormalities have been found in Treg suppressive markers CTLA-4 and CD25, while others have shown a decreased expression of FoxP3 and IL-10. 28599652 2017
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 Biomarker disease BEFREE These findings highlight the role of auto-antigen gene (CHRNA1) in the autoimmune reactions against AChR and reveal synergistic contribution of genes of both auto-antigen and immune-regulating proteins (AIRE and CTLA-4) in the pathogenesis of MG. 27501803 2017
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 GeneticVariation disease BEFREE In sharp contrast with TAMG, we now find that: i) CTLA4(low) +49G(+) genotypes were more frequent (p = 0.0029) among the 69 LOMG patients with age at onset ≥60 years compared with 172 healthy controls; ii) thymic export of naïve T cells from the non-neoplastic thymuses of 36 LOMG patients was lower (p = 0.0058) at diagnosis than in 77 age-matched controls. 24373506 2014
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 Biomarker disease BEFREE Evidence from Caucasians supported a genetic predisposition of CTLA4 to myasthenia gravis (MG), but the contribution in East Asians has not been established. 25003519 2014
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 Biomarker disease BEFREE Many of the non-HLA genes, such as PTPN22 and CTLA-4, have been previously studied in MG and other autoimmune diseases and their association with MG has been reevaluated in more cohesive groups of patients. 24294607 2013
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 Biomarker disease BEFREE High levels of soluble cytotoxic T-lymphocyte antigen 4 (soluble CTLA-4), an alternative splice form of the regulatory T-cell (Treg) associated CTLA-4 gene, have been associated with type 1 diabetes (T1D) and other autoimmune diseases, such as Grave's disease and myasthenia gravis. 22218756 2012
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 GeneticVariation disease BEFREE The aim of this study was to analyze the only coding SNP CTLA-4 +49 A/G polymorphism in patients with either infectious (Chagas's, Dengue, and American cutaneous leishmaniasis) or autoimmune diseases (myasthenia gravis, pemphigus, and psoriasis). 19345707 2009
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 AlteredExpression disease LHGDN The two SNPs in the promoter region are associated with MG and might cause abnormal alternative splicing and affect the expression of CD152, thereby contributing to the pathogenesis of MG. 18088253 2008
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 AlteredExpression disease BEFREE This study reveals an abnormal spectrum of mRNA expression of CTLA-4 in MG patients, which marks the importance of studying gene expression of alternative splicing. 18595775 2008
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 AlteredExpression disease LHGDN This study reveals an abnormal spectrum of mRNA expression of CTLA-4 in MG patients, which marks the importance of studying gene expression of alternative splicing. 18595775 2008
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 AlteredExpression disease BEFREE The two SNPs in the promoter region are associated with MG and might cause abnormal alternative splicing and affect the expression of CD152, thereby contributing to the pathogenesis of MG. 18088253 2008
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 GeneticVariation disease BEFREE Taking the association of a gain-of-function polymorphism of the CTLA-4 and PTPN22 gene with MG in thymomas into account, we conclude that these acquired cellular abnormalities of the thymoma microenvironment in concert with inherited genetic high-risk polymorphisms of immunoregulatory genes have an impact on intratumorous thymopoiesis and appear to tip the balance toward central tolerance failure and development of MG. 18567864 2008
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 GeneticVariation disease LHGDN The unusual disease association with a CTLA4high genotype implies a unique pathogenesis of paraneoplastic MG, with high CTLA4 levels possibly supporting the nontolerogenic selection of CD4+ T cells in MG-associated thymomas. 16178018 2005
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 Biomarker disease BEFREE Thus, our results suggest that the suppression of myasthenia gravis-associated T cell responses exerted by the dual APL is mediated by the CD4+CD25+ immunoregulatory T cell function via TGF-beta or cytotoxic T lymphocyte-associated antigen 4, which further stimulate a cascade of events that up-regulates apoptosis. 15677327 2005
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 AlteredExpression disease BEFREE The unusual disease association with a CTLA4high genotype implies a unique pathogenesis of paraneoplastic MG, with high CTLA4 levels possibly supporting the nontolerogenic selection of CD4+ T cells in MG-associated thymomas. 16178018 2005
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 GeneticVariation disease BEFREE CDS1 and promoter single nucleotide polymorphisms of the CTLA-4 gene in human myasthenia gravis. 11857062 2002
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 AlteredExpression disease BEFREE Abnormal expression of CTLA-4 by T cells from patients with myasthenia gravis: effect of an AT-rich gene sequence. 12225905 2002
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 AlteredExpression disease BEFREE Here, we have performed genotyping for CTLA4 polymorphisms, and investigated expression by peripheral blood mononuclear cells of CTLA-4 mRNA and protein, in patients with MS and myasthenia gravis and in healthy controls. 11426323 2001
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 GeneticVariation disease BEFREE The current results point to the (AT)n in Ctla-4 as a myasthenia gravis facilitating mutation under certain permissive environments by influencing the T cell reactivity via the CD28 pathway. 10713366 2000
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
0.100 Biomarker disease BEFREE Genetic association of Ctla-4 to myasthenia gravis with thymoma. 9688341 1998