Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 388228
Gene Symbol: SBK1
SBK1
0.010 Biomarker disease BEFREE 20 eyes with SBK and Fuchs' dystrophy underwent a Femto-assisted DSAEK by laser cutting of two matching posterior stromal discs in the recipient and donor corneas and then fitting the donor disc in the posterior corneal defect of the recipient using Busin's glide or Terry forceps. 28695004 2017
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11. 24502824 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 Biomarker disease BEFREE E2-2 protein and Fuchs's corneal dystrophy. 20825314 2010
Entrez Id: 7052
Gene Symbol: TGM2
TGM2
0.010 Biomarker disease BEFREE TGC expansion (>50 repeats) was present in 46 (68%) FECD-affected subjects and one (6%) normal subject. 25168903 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: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE SLC4A11 is a membrane transport protein (OH<sup>-</sup> /H<sup>+</sup> /NH<sub>3</sub> /H<sub>2</sub> O) of basolateral corneal endothelium, whose mutations cause some cases of congenital hereditary endothelial dystrophy and Fuchs endothelial corneal dystrophy. 27925686 2017
Entrez Id: 1728
Gene Symbol: NQO1
NQO1
0.010 Biomarker disease BEFREE NQO1 downregulation potentiates menadione-induced endothelial-mesenchymal transition during rosette formation in Fuchs endothelial corneal dystrophy. 29294389 2018
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE SLC4A11 mutations cause cases of congenital hereditary endothelial dystrophy (CHED), Harboyan syndrome (HS), and Fuchs endothelial corneal dystrophy (FECD). 29327391 2018
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
0.010 Biomarker disease BEFREE PI3K plays a key role in the molecular mechanism of symptomatic late-onset FECD. 29787599 2018
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.010 Biomarker disease BEFREE PI3K plays a key role in the molecular mechanism of symptomatic late-onset FECD. 29787599 2018
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.010 Biomarker disease BEFREE PI3K plays a key role in the molecular mechanism of symptomatic late-onset FECD. 29787599 2018
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
0.010 Biomarker disease BEFREE PI3K plays a key role in the molecular mechanism of symptomatic late-onset FECD. 29787599 2018
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE SLC4A11 mutations are associated with Fuchs' endothelial corneal dystrophy (FECD), congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome (endothelial dystrophy with auditory deficiency). 30557570 2019
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: 22915
Gene Symbol: MMRN1
MMRN1
0.020 Biomarker disease BEFREE A cell model based on patients with FECD shows that TGF-β signaling induced a chronic overload of ECM proteins to the endoplasmic reticulum (ER), thereby enhancing the formation of unfolded protein and triggering the intrinsic apoptotic pathway through the unfolded protein response (UPR). 28754918 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: 3855
Gene Symbol: KRT7
KRT7
0.010 Biomarker disease BEFREE A higher percentage of corneal endothelial cells stained for alpha-smooth muscle actin (αSMA), cytokeratin 7, and superoxide dismutase 3 in FECD versus normal [odds ratios (ORs) of 60.90, 41.70, and 15.16, respectively, P < 0.001]. 28481834 2017
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.020 GeneticVariation disease BEFREE A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. 16876867 2006
Entrez Id: 2039
Gene Symbol: DMTN
DMTN
0.010 GeneticVariation disease BEFREE A patient with FECD was successfully treated with DMT. 29384808 2018
Entrez Id: 79661
Gene Symbol: NEIL1
NEIL1
0.010 GeneticVariation disease BEFREE A weak association between the C/G genotype of the g.46438521G>C polymorphism of the NEIL1 gene and an increased incidence of FECD was also detected. 26388025 2015
Entrez Id: 22915
Gene Symbol: MMRN1
MMRN1
0.020 Biomarker disease BEFREE Accumulation of ECM proteins in Descemet membrane is an important pathologic change in FECD. 27490049 2016
Entrez Id: 2335
Gene Symbol: FN1
FN1
0.020 Biomarker disease BEFREE Aggresome formation was higher in iFECD than in iHCEC and was colocalized with type 1 collagen, fibronectin, and agrin. 28727885 2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
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
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 Biomarker disease BEFREE Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy. 31276570 2019