Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.820 GeneticVariation BEFREE The goal of the current study was to investigate the association of single nucleotide polymorphisms (SNP) with the immunologically related genes responsible for the disease, composed of CD58 (rs2300747 A>G), CD226 (rs763361 C>T), and HLA-G (rs1611715 A>C), with MS susceptibility. 30128676 2018
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.820 GeneticVariation GWASCAT Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation. 27386562 2016
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.820 GeneticVariation GWASDB Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 21833088 2011
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.820 GeneticVariation GWASCAT Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.820 GeneticVariation GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.820 GeneticVariation GWASCAT Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. 19525953 2009
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.820 GeneticVariation BEFREE This protective rs2300747(G) allele is associated with a dose-dependent increase in CD58 mRNA expression in lymphoblastic cell lines (P = 1.1 x 10(-10)) and in peripheral blood mononuclear cells from MS </span>subjects (P = 0.0037). 19237575 2009
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.820 GeneticVariation GWASDB Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. 19525953 2009
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.700 GeneticVariation GWASCAT A genome-wide association study identifies six novel risk loci for primary biliary cholangitis. 28425483 2017
Neuromyelitis Optica
CUI: C0027873
Disease: Neuromyelitis Optica
0.020 GeneticVariation BEFREE Five SNPs were significantly associated with an increased risk of NMOSD (rs2300747, rs1335532, rs56302466, rs1016140, and rs12044852). 28601281 2017
Neuromyelitis Optica
CUI: C0027873
Disease: Neuromyelitis Optica
0.020 GeneticVariation BEFREE Based on previous studies, we suspect that the A allele of rs2300747 may decrease CD58 RNA expression, thus increasing NMO risk. 24655566 2014