Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1
0.600 GermlineCausalMutation disease ORPHANET Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 20036349 2010
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GermlineCausalMutation disease ORPHANET Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 18464802 2009
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GermlineCausalMutation disease ORPHANET We tested for an association between an intronic TGC trinucleotide repeat in TCF4 and FECD by determining repeat length in 66 affected participants with severe FECD and 63 participants with normal corneas in a 3-stage discovery/replication/validation study. 23185296 2012
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GermlineCausalMutation disease ORPHANET Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy. 20848555 2010
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: 6935
Gene Symbol: ZEB1
ZEB1
0.600 AlteredExpression disease BEFREE Furthermore, we find that miR-199b-5p directly and negatively regulates Snai1 and ZEB1, two zinc finger transcription factors that lead to increased ECM deposition in FECD. 31705138 2019
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1
0.600 AlteredExpression disease BEFREE The CTG18.1 repeat expansion may reduce gene expression of TCF4 and ZEB1, suggesting that a mechanism triggering a loss of function may contribute to FECD. 28608272 2017
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1
0.600 AlteredExpression disease BEFREE These findings suggest that increased expression levels of ZEB1 and Snail1 in FECD cells were responsible for an increased responsiveness to TGF-β present in the aqueous humor and excessive production of ECM. 26302187 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 AlteredExpression disease BEFREE The CTG18.1 repeat expansion may reduce gene expression of TCF4 and ZEB1, suggesting that a mechanism triggering a loss of function may contribute to FECD. 28608272 2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 AlteredExpression disease BEFREE Quantitative PCR using all three probes demonstrated that TCF4 mRNA is significantly upregulated in the corneal endothelium of patients with FECD, regardless of the presence of TNR expansion. 30811544 2019
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 AlteredExpression disease BEFREE Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy. 28118661 2017
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.040 AlteredExpression disease BEFREE Expression of beta ig-h3 in sub-epithelial matrix and posterior collagenous layer of Fuchs' dystrophy is consistent with the synthesis of new extracellular matrices by epithelial and endothelial tissues. beta ig-h3 mRNA in corneal epithelium further supports an epithelial source of this protein. 8921218 1996
Entrez Id: 1191
Gene Symbol: CLU
CLU
0.040 AlteredExpression disease BEFREE Increased clusterin expression in Fuchs' endothelial dystrophy. 18378577 2008
Entrez Id: 6615
Gene Symbol: SNAI1
SNAI1
0.020 AlteredExpression disease BEFREE These findings suggest that increased expression levels of ZEB1 and Snail1 in FECD cells were responsible for an increased responsiveness to TGF-β present in the aqueous humor and excessive production of ECM. 26302187 2015
Entrez Id: 6615
Gene Symbol: SNAI1
SNAI1
0.020 AlteredExpression disease BEFREE Furthermore, we find that miR-199b-5p directly and negatively regulates Snai1 and ZEB1, two zinc finger transcription factors that lead to increased ECM deposition in FECD. 31705138 2019
Entrez Id: 3605
Gene Symbol: IL17A
IL17A
0.010 AlteredExpression 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: 407024
Gene Symbol: MIR29B1
MIR29B1
0.010 AlteredExpression disease BEFREE Compared with control, miR-29b expression level after transfection of iFECD was increased to 335.6% (±91.0%), and ECM expression levels were significantly decreased. 27490049 2016
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: 3458
Gene Symbol: IFNG
IFNG
0.010 AlteredExpression 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: 407025
Gene Symbol: MIR29B2
MIR29B2
0.010 AlteredExpression disease BEFREE Compared with control, miR-29b expression level after transfection of iFECD was increased to 335.6% (±91.0%), and ECM expression levels were significantly decreased. 27490049 2016
Entrez Id: 2113
Gene Symbol: ETS1
ETS1
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: 6401
Gene Symbol: SELE
SELE
0.010 AlteredExpression 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: 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: 9927
Gene Symbol: MFN2
MFN2
0.010 AlteredExpression disease BEFREE Herein, carbonyl cyanide m-chlorophenyl hydrazone (CCCP)-induced mitochondrial depolarization decreased mitochondrial mass and Mfn2 levels, which were rescued with mitophagy blocker, bafilomycin, in FECD. 28751712 2017
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