Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 Biomarker disease MGD This study confirms the Q455K substitution in the COL8A2 gene as being sufficient to cause FECD in the first mouse model of this disease and supports the role of the UPR and UPR-associated apoptosis in the pathogenesis of FECD caused by COL8A2 mutations. 22002996 2012
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1
0.600 Biomarker disease BEFREE Here, we report the contribution of ZEB1 and LOXHD1 genes in our sporadic late-onset FECD cohort. 29799290 2018
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: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE While the early onset, and rarer, form of FECD has been linked to COL8A2 mutations, the more common, late onset form of FECD has genetic mutations linked to only a minority of cases. 28384203 2017
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE The absence of pathogenic mutations identified in the COL8A1 or COL8A2 genes in affected members of 15 pedigrees with familial FECD indicates that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy. 16936088 2006
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 Biomarker disease BEFREE CTG18.1 Expansion in TCF4 Among African Americans With Fuchs' Corneal Dystrophy. 29196769 2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis. 26087656 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE This is the first report of genetic variations in ZEB1 and TCF4 SNP rs613872 in patients with FECD from northern India that suggests a possible role in disease pathogenesis and the regulation of endothelial cell density. 26622166 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Transethnic replication of the association between the CTG18.1 repeat expansion in the TCF4 gene and FECD suggests it is a common, causal variant shared in Eurasian populations conferring significant risk for the development of FECD. 25298419 2014
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE We genotyped TCF4 and DMPK repeat polymorphisms in a FECD cohort of 317 probands using short-tandem repeat and triplet repeat-primed PCR assays. 28886202 2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Association of single nucleotide polymorphisms (SNPs) and CTG trinucleotide repeat expansions in the intron of TCF4 gene to FECD has been studied across multiple ethnicities. 29799290 2018
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 GeneticVariation disease BEFREE A CTG18.1 trinucleotide repeat in TCF4 correlates with increased severity in Fuchs dystrophy; however, quantitative estimates of increased transplantation risk, including effects of age and sex, are unclear. 27755191 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 Biomarker disease BEFREE The association of TNR expansion in TCF4 with FECD is shown for the first time in the Thai population. 31554942 2019
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 Biomarker disease BEFREE Considering a 75% prevalence of TCF4 TNR expansion in FECD, the probability of four FECD probands lacking TNR expansion was 0.4%. 30025114 2018
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 Biomarker disease BEFREE The purpose of this study was to examine FECD endothelial samples for the presence of RNA nuclear foci, the hallmark of toxic RNA, as well as evidence of haploinsufficiency of TCF4. 25722209 2015
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: 6925
Gene Symbol: TCF4
TCF4
0.500 Biomarker disease BEFREE We performed comprehensive sequencing of the TCF4 gene region in order to identify the best marker for FECD within TCF4 and to identify other novel variants that may be associated with FECD. 25168903 2014
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 Biomarker disease BEFREE Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4. 24094747 2013
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE To identify early features of Fuchs endothelial dystrophy (FED) in carriers of the rs613872(G) transcription factor 4 gene (TCF4) aged 20 to 21 years. 22146553 2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Prior reports have shown that SNP rs613872 in the TCF4 gene is highly associated with FECD. 22998502 2013
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: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus. 21245398 2011
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 Biomarker disease BEFREE Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy. 31276570 2019