| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | PTX3 was found to be present in the macula of donor eyes and the AMD-associated Y402H polymorphism altered the binding of FHL-1 to PTX3. | 29374201 | 2018 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | A sensitivity analysis of genetic variants known to be associated with late stage AMD showed that rs1061170 (p.Y402H) in the complement factor H (CFH) gene influences the association of Cer d18:1/16:0 with GA. To understand the possible influence of this genetic variant on ceramide levels, we established a cell-based assay to test the modulation of genes in the ceramide metabolism by factor H-like protein 1 (FHL-1), an alternative splicing variant of CFH that also harbors the 402 residue. | 30071029 | 2018 | ||||
|
0.080 | Biomarker | disease | BEFREE | AMD-associated lipid deposition in BrM decreases FHL-1 diffusion. | 29312308 | 2017 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | FHL-1 is largely bound to Bruch's membrane through interactions with heparan sulfate, and we show that the common Y402H polymorphism in the CFH gene, associated with an increased risk of AMD, reduces the binding of FHL-1 to this heparan sulfate. | 25305316 | 2014 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Age-related macular degeneration is a leading form of blindness in Western countries and is associated with a common SNP (rs 1061170/Y402H) in the Factor H gene, which encodes the two complement inhibitors Factor H and FHL1. | 21930971 | 2011 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | In particular a sequence variation at position 402 of both Factor H and FHL1 is associated with a risk for AMD. | 20711704 | 2010 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | The FH Y402H polymorphism associated with AMD causes a reduction in binding of FH and FHL-1 to CRP and M protein. | 18263814 | 2008 | ||||
|
0.080 | Biomarker | disease | BEFREE | In addition, we identify the Factor H-like protein 1 (FHL-1), an alternative splice product of the CFH gene as an additional protein that includes the risk residue 402, and thus confers risk for AMD. | 17399790 | 2007 |