TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
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
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
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
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 Biomarker disease BEFREE Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy. 31276570 2019
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 GeneticVariation disease BEFREE Seventy percent of FECD cases are due to an intronic CTG expansion within the TCF4 gene, resulting in accumulation of CUG repeat RNA nuclear foci in corneal endothelium. 31560764 2019
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 Biomarker disease BEFREE CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat. 30733599 2019
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 GeneticVariation disease BEFREE We confirmed that rs613872 in the TCF4 gene is strongly and statistically associated with late-onset FECD in a Greek population. 31028223 2019
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 GeneticVariation disease BEFREE The TCF4 SNP rs613872 genotype was TT: 39 (67%), TG: 18 (31%), and GG: 1 (2%) in non-FECD controls; TT: 39 (47%), TG: 38 (46%), and GG: 6 (7%) in FECD cases harboring TNR <50; and TT: 23 (8%), TG: 224 (79%), and GG: 38 (13%) in FECD cases harboring TNR >50 (P = 2.93 × 10). 30973406 2019
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 GeneticVariation disease BEFREE Most cases of FECD are associated with an expanded CUG repeat within the intronic region of TCF4 and the mutant RNA has been implicated as the cause of the disease. 30676271 2019
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 GeneticVariation disease BEFREE Identification of novel splicing patterns and differential gene expression in RE+/FECD- samples provides new insights and more relevant gene targets that may be protective against FECD disease in vulnerable patients with TCF4 CTG TNR expansions. 31469403 2019
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
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
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
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
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 Biomarker disease BEFREE An antipeptide antibody raised against the C-terminus of the TCF4 poly-cysteine frame recognized RAN translation products by IF in cells transfected with CTG·CAG repeats and in FECD corneal endothelium. 29677349 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 Biomarker disease BEFREE Alternative splice isoforms of TCF4, a gene implicated in Fuchs corneal dystrophy, have been identified in multiple human tissues outside of the eye. 29677003 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 GeneticVariation disease BEFREE Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large cohort of affected individuals. 29526280 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 Biomarker disease BEFREE Intergenerational instability of TCF4 repeat expansion has implications on FECD disease inheritance. 30098193 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 Biomarker disease BEFREE FECD has the potential to be a model for treating many trinucleotide repeat diseases and targeting the TCF4 expansion with ASOs represents a promising therapeutic strategy to prevent and treat FECD. 29325021 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 Biomarker disease BEFREE Analysis of the diagnostic performance of individual markers in TCF4 and their combinations showed that the CTG18.1 repeat expansion was the best classifier for FECD (AUC = 0.84). 30267097 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 GeneticVariation disease BEFREE Expansion of a CTG trinucleotide repeat in the third intron of the transcription factor 4 (TCF4) gene is highly associated with FECD. 29966009 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 Biomarker disease BEFREE CTG18.1 Expansion in TCF4 Among African Americans With Fuchs' Corneal Dystrophy. 29196769 2017
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
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
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
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
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
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
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
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
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 Biomarker disease BEFREE We found significant association between the expanded TGC repeat (≥ 40 repeats) in TCF4 and advanced FECD (P = 2.58 × 10-22; OR = 15.66 (95% CI: 7.79-31.49)). 28832669 2017
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy
0.500 GeneticVariation disease BEFREE Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy. 27121161 2016