Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 Biomarker disease BEFREE These results support a role for epithelial-mesenchymal transition (αSMA), oxidative stress (superoxide dismutase 3), and major histocompatibility complex, class II, DR alpha cells with dendritic morphology in the pathophysiology of FECD. 28481834 2017
Entrez Id: 123624
Gene Symbol: AGBL1
AGBL1
0.320 GeneticVariation disease BEFREE Marker alleles of the tested SNVs in SLC4A11, LOXHD1, and rs185919705 in AGBL1 were not found in our FECD cohort. 30267097 2018
Entrez Id: 123624
Gene Symbol: AGBL1
AGBL1
0.320 GermlineCausalMutation disease ORPHANET Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 24094747 2013
Entrez Id: 123624
Gene Symbol: AGBL1
AGBL1
0.320 GeneticVariation disease BEFREE Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 24094747 2013
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
0.010 Biomarker disease BEFREE Three genes (MBNL1, KIF13A, AKAP13) that were previously identified as misspliced in patients with a CTG TNR expansion and FECD disease (RE+/FECD+) were found normally spliced in RE+/FECD- samples. 31469403 2019
Entrez Id: 328
Gene Symbol: APEX1
APEX1
0.010 GeneticVariation disease BEFREE The aim of this study was to determine the relationship between the genotypes of the c.444 T>G (rs1130409) and c.-468 T>G (rs1760944) polymorphisms in the APEX1 gene and the occurrence of two oxidative stress-related eye diseases: keratoconus (KC) and Fuchs endothelial corneal dystrophy (FECD). 26204393 2015
Entrez Id: 348
Gene Symbol: APOE
APOE
0.010 Biomarker disease BEFREE This is the first study to report comparative proteomics of Descemet's membrane tissue, and implicates dysregulation of APOE and IGHG1 proteins in the pathogenesis of Fuchs endothelial corneal dystrophy. 31206232 2019
Entrez Id: 93663
Gene Symbol: ARHGAP18
ARHGAP18
0.010 AlteredExpression disease BEFREE In addition, increased expression of CDKN2A and its transcriptional activators ETS1 and ARHGAP18 (SENEX) along with decreased expression of CDKN2A inhibitor ID1 were detected in FECD samples. 25311168 2014
Entrez Id: 481
Gene Symbol: ATP1B1
ATP1B1
0.010 Biomarker disease BEFREE Recently, genome-wide association studies have also identified KANK4, LAMC1, and ATP1B1 as novel loci for FECD. 29799290 2018
Entrez Id: 627
Gene Symbol: BDNF
BDNF
0.010 Biomarker disease BEFREE Higher percentages of corneal epithelial cells stained for αSMA (OR = 2.20, P = 0.006) and BDNF (OR = 3.94, P < 0.001) in FECD versus normal. 28481834 2017
Entrez Id: 6366
Gene Symbol: CCL21
CCL21
0.010 GeneticVariation disease BEFREE The prevalence of TCA4 above 1.0 diopter (D) was considerably higher (79%) and with-the-rule astigmatism was less frequent in this cohort of European patients with Fuchs endothelial dystrophy (mean age 65 years) than that reported in a meta-analysis of healthy European eyes. 31262462 2019
Entrez Id: 729230
Gene Symbol: CCR2
CCR2
0.010 GeneticVariation disease BEFREE In an analysis excluding Fuchs endothelial corneal dystrophy (11 eyes), the ECD at 12 months after DSAEK was significantly correlated with preoperative levels of IL-17A (r = -0.635, 95% CI: -0.819 to -0.319, P = 0.0004), MCP-1 (r = -0.605, 95% CI: -0.779 to -0.345, P < 0.0001), IFN-γ (r = -0.633, 95% CI: -0.796 to -0.385, P < 0.0001), E-selectin (r = -0.516, 95% CI: -0.756 to -0.276, P = 0.0004), and sICAM-1 (r = -0.537, 95% CI: -0.735 to -0.253, P = 0.0005). 29392310 2018
Entrez Id: 999
Gene Symbol: CDH1
CDH1
0.010 AlteredExpression disease BEFREE While E-cadherin gene expression was not detected in any corneal endothelial cells, expression of CDH2 (N-cadherin) was detected in FECD-affected endothelium and in our controls. 28608272 2017
Entrez Id: 1000
Gene Symbol: CDH2
CDH2
0.010 AlteredExpression disease BEFREE While E-cadherin gene expression was not detected in any corneal endothelial cells, expression of CDH2 (N-cadherin) was detected in FECD-affected endothelium and in our controls. 28608272 2017
Entrez Id: 1026
Gene Symbol: CDKN1A
CDKN1A
0.010 Biomarker disease BEFREE Our results identify endothelial Cdkn1a (p21) upregulation in a mouse model of early-onset FECD, confirm overexpression of p21 in late-onset human FECD endothelium, and suggest a role for premature senescence in FECD. 22956607 2012
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A
0.010 AlteredExpression disease BEFREE In addition, increased expression of CDKN2A and its transcriptional activators ETS1 and ARHGAP18 (SENEX) along with decreased expression of CDKN2A inhibitor ID1 were detected in FECD samples. 25311168 2014
Entrez Id: 3075
Gene Symbol: CFH
CFH
0.100 GeneticVariation disease GWASCAT Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy. 28358029 2017
Entrez Id: 55349
Gene Symbol: CHDH
CHDH
0.010 Biomarker disease BEFREE No statistically significant difference in gene regulation was observed for the function-related families ATP1, SLC4, SLC16, AQP, TJP, and CDH between the FECD and the healthy cell models. 29698634 2018
Entrez Id: 1191
Gene Symbol: CLU
CLU
0.040 Biomarker disease BEFREE TGFβIp expression was found on the stromal side of both FECD and healthy Descemet's membrane, and only one out of three FECD specimens was positive for the clusterin protein. 28726551 2018
Entrez Id: 1191
Gene Symbol: CLU
CLU
0.040 Biomarker disease BEFREE Colocalization of increased transforming growth factor-beta-induced protein (TGFBIp) and Clusterin in Fuchs endothelial corneal dystrophy. 19011008 2009
Entrez Id: 1191
Gene Symbol: CLU
CLU
0.040 AlteredExpression disease BEFREE Increased clusterin expression in Fuchs' endothelial dystrophy. 18378577 2008
Entrez Id: 1191
Gene Symbol: CLU
CLU
0.040 GeneticVariation disease BEFREE Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process. 22234156 2012
Entrez Id: 1295
Gene Symbol: COL8A1
COL8A1
0.010 GeneticVariation disease BEFREE Screening of the COL8A1 gene did not reveal sequence variants in any affected individuals from the 15 FECD families. 16936088 2006
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 18464802 2009
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 Biomarker disease MGD The Col8a2(L450W/L450W) and Col8a2(Q455K/Q455K) mouse models of FECD showed distinct endothelial cell phenotypes. 23422828 2013