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 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 Taken together these data provide evidence of joint disease association in T1D and MS within CLEC16A and underline a shared disease pathway. 18946483 2009
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 To dissect further the involvement of four recent identified MS susceptibility genes (KIAA0350, IL2RA, RPL5 and CD58) in disease pathogenesis, we genotyped 94 haplotype-tagging single nucleotide polymorphisms (SNPs) from these loci in 1146 MS cases and 1309 controls. 19375175 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE Associations of CLEC16A*G/G and both biallelic combinations in women with MS survived the permutation test. 25903733 2015
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE In reciprocal experiments, a 20 kb fragment of intron 19 of CLEC16A, containing SNPs associated with T1D and MS, as well as with DEXI expression, interacted with the promotor region of DEXI but not with candidate DNA fragments containing other potential causal genes in the region, including CLEC16A. 21989056 2012
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease CTD_human Taken together these data provide evidence of joint disease association in T1D and MS within CLEC16A and underline a shared disease pathway. 18946483 2009
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease BEFREE To explore the CLEC16A association in MS in more detail, we genotyped 57 SNPs in 807 Norwegian MS patients and 1027 Norwegian controls. 21179112 2011
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.500 Biomarker disease CTD_human We also replicated several known MS associations (HLA-DR15, P = 7.0 x 10(-184); CD58, P = 9.6 x 10(-8); EVI5-RPL5, P = 2.5 x 10(-6); IL2RA, P = 7.4 x 10(-6); CLEC16A, P = 1.1 x 10(-4); IL7R, P = 1.3 x 10(-3); TYK2, P = 3.5 x 10(-3)) and observed a statistical interaction between SNPs in EVI5-RPL5 and HLA-DR15 (P = 0.001). 19525955 2009