Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 GeneticVariation disease BEFREE The situation is complicated by tight genetic associations across the region, including the adjacent CFH-related genes CFHR3 and CFHR1, which may themselves influence the alternative complement pathway and are contained within a common deletion (CNP147) which is associated with protection against AMD. 23873044 2014
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 GeneticVariation disease GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517 2013
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 Biomarker disease BEFREE Copy number variations in regulators of complement activation genes (CFHR1 and CFHR3) and glutathione S transferase genes (GSTM1 and GSTT1) have been associated with AMD, and several additional loci have been identified as regions of potential interest but require further evaluation. 23244519 2013
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 GeneticVariation disease BEFREE However, significant association was identified for the CFHR3-1 deletion in AMD cases (p = 2.38 × 10(-12)) OR = 0.31, CI-0.95 (0.23-0.44), for both neovascular disease (nAMD) (p = 8.3 × 10(-9)) OR = 0.36 CI-0.95 (0.25-0.52) and geographic atrophy (GA) (p = 1.5 × 10(-6)) OR = 0.36 CI-0.95 (0.25-0.52) compared to controls. 22558131 2012
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 Biomarker disease BEFREE An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD). 20843825 2011
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 GeneticVariation disease BEFREE Subsequently, genetic studies revealed highly significant statistical associations between AMD and variants of several complement pathway-associated genes including: Complement factor H (CFH), complement factor H-related 1 and 3 (CFHR1 and CFHR3), complement factor B (CFB), complement component 2 (C2), and complement component 3 (C3). 19961953 2010
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 GeneticVariation disease BEFREE This study showed that CFH was more likely to be AMD susceptibility gene at Chr.1q31 based on the finding that the CFHR1 and CFHR3 deletion was not polymorphic in the cohort of this study, and none of the SNPs that were significantly associated with AMD in a white population in C2, CFB, and C3 genes showed a significant association with AMD. 20523265 2010
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 Biomarker disease BEFREE Deletion of CFHR3 and CFHR1 protected against the development of AMD at least in part because the deletion tagged a protective haplotype and did not occur on the risk haplotype. 19553609 2009
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 Biomarker disease BEFREE We here summarize the current knowledge about the role or association of CFHR1 and CFHR3 in the human diseases HUS and AMD. 19388158 2009
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 Biomarker disease BEFREE Notably, deficiency of CFHR1/CFHR3 associates with protection against age-related macular degeneration and with the presence of anti-fH autoantibodies in atypical hemolytic uremic syndrome (aHUS). 19745068 2009
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 GeneticVariation disease LHGDN deletion of CFHR1 and CFHR3 may account for a small portion of the protection from age-related macular degeneration associated with particular haplotypes in complement factor H. 18084039 2008
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 Biomarker disease BEFREE Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. 18084039 2008
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.200 GeneticVariation disease BEFREE A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. 16998489 2006