Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.370 | GeneticVariation | disease | BEFREE | Our previous studies identified a genetic variant in complement factor H (CFH), rs6677604, as an IgAN-susceptible variant by genome-wide association study, and further confirmed its linkage to CFHR3-1Δ and proved its influence on complement activation and thereby on IgAN susceptibility. | 30838755 | 2020 | ||||
|
0.370 | Biomarker | disease | BEFREE | Here, we compared the renal outcomes of patients with IgAN according to their <i>CFHR3,1Δ</i> genotype. | 29114042 | 2018 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | Complement involvement in IgAN pathogenesis is suggested by the glomerular deposition of complement components and the strong protection from IgAN development conferred by the deletion of the CFHR3 and CFHR1 genes (Δ<sub>CFHR3-CFHR1</sub>). | 28637589 | 2017 | ||||
|
0.370 | Biomarker | disease | BEFREE | A deletion polymorphism affecting the genes encoding the complement factor H-related protein (FHR)-1 and FHR-3 is robustly associated with protection against IgAN. | 28673452 | 2017 | ||||
|
0.370 | Biomarker | disease | BEFREE | These data indicate that dysregulated activity of the alternative complement pathway contributes to IgAN pathogenesis in both Asians and Europeans and implicate CFHR3,1Δ as the functional allele at this locus. | 26940089 | 2016 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | Our recent genome-wide association study of IgAN identified susceptibility loci on 1q32 containing the complement regulatory protein-encoding genes CFH and CFHR1-5, with rs6677604 in CFH as the top single-nucleotide polymorphism and CFHR3-1 deletion (CFHR3-1∆) as the top signal for copy number variation. | 25205734 | 2015 | ||||
|
0.370 | GeneticVariation | disease | BEFREE | In addition to identifying an association between these genetic observations and complement-mediated kidney disease, these results provide insight into the protective role of the combined deletion of CFHR3 and CFHR1 in IgA nephropathy. | 22626820 | 2012 | ||||
|
0.370 | Biomarker | disease | CTD_human | Genome-wide association study identifies susceptibility loci for IgA nephropathy. | 21399633 | 2011 |