Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease CTD_human Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 AlteredExpression disease BEFREE Here we describe linked intronic variants of MGAT5 that are associated with reduced N-glycan branching, CTLA-4 surface expression and MS (p=5.79×10(-9), n=7,741), the latter additive with the MGAT1, IL2RA and IL7RA MS risk variants (p=1.76×10(-9), OR=0.67-1.83, n=3,518). 23351704 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease GWASCAT Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. 24076602 2013
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Multiple sclerosis (MS) shares some risk genes with other disorders hallmarked by an autoimmune pathogenesis, most notably IL2RA and CLEC16A. 22130326 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Cytokine and cytokine receptor genes, including IL2RA, IL7R and IL12A, are known risk factors for multiple sclerosis (MS). 21716315 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Association between IL2RA and MS is clearly established, although the functional variation is still unknown: the effect of IL2RA might be better described by several SNPs than by a single one. 22085902 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE These data link expression of FOXP3, CBLB and ITCH mRNA and CTLA-4 expression on the surface of CD4(+) CD25(high) T cell in MS. We hypothesize that this may reflect alterations in the inhibitory effect of CTLA-4 or in regulatory T cell function. 23039885 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Dopaminergic modulation of CD4+CD25(high) regulatory T lymphocytes in multiple sclerosis patients during interferon-β therapy. 22472872 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE It was concluded that both of the IL2RA gene polymorphisms, rs2104286 and rs12722489, were associated with increased susceptibility to MS. 22117963 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE CD2 costimulation reveals defective activity by human CD4+CD25(hi) regulatory cells in patients with multiple sclerosis. 21300823 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE Genome-wide association studies have identified an association between two intronic single nucleotide polymorphisms (SNPs), rs12722489 and rs2104286, in the interleukin-2 receptor alpha-chain gene (IL2RA) and susceptibility to multiple sclerosis (MS). 21239413 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE IL2RA gene polymorphism rs2104286 A>G seen in multiple sclerosis is associated with intermediate uveitis: possible parallel pathways? 21911588 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease GWASDB Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 21833088 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease GWASCAT Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Downregulation of Mgat1 by IL7RA*C and IL2RA*T is opposed by MGAT1 (IV(A)V(T-T)) and vitamin D(3), optimizing branching and mitigating MS risk when combined with enhanced CTLA-4 N-glycosylation by CTLA-4 Thr17. 21629267 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease GWASCAT Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 21833088 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE The relevant role of the IL2RA gene on MS susceptibility adds support to its common effect on autoimmune risk and the suggestive association of IL2/IL21 warrants further investigation. 20179739 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE For example, nucleotide variation in the interleukin 7 receptor (IL7RA), the interleukin 2 receptor (IL2RA), the CD58 and the c-type lectin domain family 16 member A (CLEC16A) genes has been consistently associated with MS in several populations. 20450971 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE We found 23 human miRNAs differentially expressed between CD4(+)CD25(high)bona fide Treg cells from MS patients vs. healthy donors, but, conversely, among the deregulated miRNAs, members of the miR-106b-25 were found down-regulated in MS patients when compared to healthy donors in CD4(+)CD25(high)CD127(dim/-) T regulatory cells. 20637509 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13-14 in addition to the well established allele HLA-DR15. 20368992 2010
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease LHGDN Here, we report "allelic heterogeneity" at the IL2RA region between MS and T1D. 19119414 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE Together these results confirm involvement of polymorphisms in the IL7RA and IL2RA genes in MS pathogenesis and suggest that IL7RA variation may primarily affect chronic disease courses. 19231135 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE To determine whether percentages of CD4(+)CD25(high) T cells (a group of regulatory T cells, Treg) differ in patients with multiple sclerosis (MS) in relapse vs remission after glucocorticoid treatment and whether treatment for relapses changes Treg population and the expression of Foxp3, a key Treg-associated molecule. 18771523 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 GeneticVariation disease BEFREE Of the 17 IMSGC SNPs, five SNPs showed genome-wide significant association with MS: HLA-DRA (P=8E-124), IL7R (P=6E-09), IL2RA (P=1E-11), CD58 (P=4E-09) and CLEC16A (P=3E-12). 19834503 2009