Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 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: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE These findings show for the first time in a Japanese population the association of the TNR expansion in TCF4 with FECD. 26218914 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Among the several genes and loci associated with FECD, the strongest association is with an intronic (CTG·CAG)n trinucleotide repeat expansion in the TCF4 gene, which is found in the majority of affected patients. 25593321 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
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
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
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
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE In summary, our study presents evidence to support the role of the intronic TCF4 single nucleotide polymorphism rs613872 in late-onset FECD through both association and linkage studies. 21533127 2011
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Association of common variants in TCF4 and PTPRG with Fuchs' corneal dystrophy: a systematic review and meta-analysis. 25299301 2014
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE To determine the effect of the expanded CTG18.1 allele of TCF4 on FECD severity and to correlate CTG triplet repeat allele length to the severity of FECD. 26401622 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE However, considering the strong association of TCF4 allelic variants with FECD, genotyping of TCF4 risk alleles may be important in the clinical practice. 26451375 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
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
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Association of TCF4 gene polymorphisms with Fuchs' corneal dystrophy in the Chinese. 21659310 2011
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE The effect of A10398G and Haplogroup I to FECD is likely independent of the known TCF4 variant. 24917144 2014
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE TCF4 poses a major contributor to FECD manifestation globally, with a significant association of rs17089887 and CTG18.1 allele in the Indian population. 25342617 2014
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease GWASCAT E2-2 protein and Fuchs's corneal dystrophy. 20825314 2010
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
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
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease BEFREE Thus, common variants in TCF4 appear to influence FECD directly, and CCT secondarily via FECD. 23110055 2012
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
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
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
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
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
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
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE Mutations of SLC4A11, a plasma membrane transport protein of the human corneal endothelial cell layer, cause cases of congenital hereditary endothelial dystrophy, Harboyan syndrome, and Fuchs' endothelial corneal dystrophy. 26641551 2015
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE Earlier studies showed that some SLC4A11 mutations cause FECD and CHED by impairing solute transport activity or cell surface trafficking. 31691803 2020