Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 Biomarker disease BEFREE Complement factor H‑related 3 (CFHR3) belongs to the human factor H protein family and is associated with various human diseases, including nephropathy, age‑related macular degeneration and atypical hemolytic uremic syndrome. 31524260 2019
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 GeneticVariation disease BEFREE Using a panel of 8854 SNPs associated with AAMD at p-values ≤5.0E-7 from a cohort of >30,000 elderly people, we identified SNPs in miRNA target-encoding constituents of: (1) regulator of complement activation (RCA) genes (rs390679, CFHR1, p≤2.14E-214 ; rs12140421, CFHR3, p≤4.63E-29); (2) genes of major histocompatibility complex (MHC) loci (rs4151672, CFB, p≤8.91E-41 ; rs115404146, HLA-C, p≤6.32E-12 ; rs1055821, HLA-B, p≤1.93E-9 ; rs1063355, HLA-DQB1, p≤6.82E-14); and (3) genes of the 10q26 AAMD locus (rs1045216, PLEKHA1, p≤4.17E-142 ; rs2672603, ARMS2, p≤7.14E-46). 28343170 2017
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 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
0.500 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 2013
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 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 2012
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 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
0.500 Biomarker disease BEFREE Additionally, 698 CNPs showed significant differences with false discovery rate (FDR)<0.01 among the 10 populations and these loci overlap with known disease-associated or pharmacogenetic-related genes such as CFHR3 and CFHR1 (age related macular degeneration), GSTTI (metabolism of various carcinogenic compounds and cancers) and UGT2B17 (prostate cancer and graft-versus-host disease). 21677662 2011
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 GeneticVariation disease BEFREE Combined deletion of CFHR3 and CFHR1 was associated with a decreased risk of developing AMD. 21850184 2011
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 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
0.500 Biomarker disease BEFREE Thus, deficiency of CFHR3 and CFHR1 results in a loss of complement control but enhances local regulation by factor H. Our findings allude to a critical balance between the complement regulators CFHR3, CFHR1 and factor H and further emphasize the central role of complement regulation in AMD pathology. 20843825 2010
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 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
0.500 Biomarker disease BEFREE However deletion of a chromosomal segment in the Factor H gene cluster on human chromosome 1, which results in the deficiency of the terminal pathway regulator CFHR1, and of the putative complement regulator CFHR3 has a protective effect for development of AMD. 20711704 2010
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 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
0.500 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
0.500 GeneticVariation disease BEFREE Recently, deletion of the 'CFH-related' genes CFHR1 and CFHR3 was found to be segregating with a particular CFH haplotype, which reduced the risk of AMD. 18084039 2008
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 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 2008
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 GeneticVariation disease LHGDN Recently, deletion of the 'CFH-related' genes CFHR1 and CFHR3 was found to be segregating with a particular CFH haplotype, which reduced the risk of AMD. 18084039 2008
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 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
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 10878
Gene Symbol: CFHR3
CFHR3
0.500 Biomarker disease HPO