Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2859
Gene Symbol: GPR35
GPR35
0.010 Biomarker disease BEFREE Immunoreactivity for GPR35 was detected in normal corneas, keratoconus and Fuchs' dystrophy, mainly in the corneal epithelium and endothelium. 30445046 2019
Entrez Id: 11214
Gene Symbol: AKAP13
AKAP13
0.010 Biomarker disease BEFREE Three genes (MBNL1, KIF13A, AKAP13) that were previously identified as misspliced in patients with a CTG TNR expansion and FECD disease (RE+/FECD+) were found normally spliced in RE+/FECD- samples. 31469403 2019
Entrez Id: 6366
Gene Symbol: CCL21
CCL21
0.010 GeneticVariation disease BEFREE The prevalence of TCA4 above 1.0 diopter (D) was considerably higher (79%) and with-the-rule astigmatism was less frequent in this cohort of European patients with Fuchs endothelial dystrophy (mean age 65 years) than that reported in a meta-analysis of healthy European eyes. 31262462 2019
Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1
0.010 Biomarker disease BEFREE Immunoblotting of FECD ex vivo specimens revealed an accumulation of PINK1 and phospho-Parkin (Ser65) along with loss of total Parkin and total Drp1. 31361992 2019
Entrez Id: 348
Gene Symbol: APOE
APOE
0.010 Biomarker disease BEFREE This is the first study to report comparative proteomics of Descemet's membrane tissue, and implicates dysregulation of APOE and IGHG1 proteins in the pathogenesis of Fuchs endothelial corneal dystrophy. 31206232 2019
Entrez Id: 23604
Gene Symbol: DAPK2
DAPK2
0.010 Biomarker disease BEFREE Immunoblotting of FECD ex vivo specimens revealed an accumulation of PINK1 and phospho-Parkin (Ser65) along with loss of total Parkin and total Drp1. 31361992 2019
Entrez Id: 3500
Gene Symbol: IGHG1
IGHG1
0.010 Biomarker disease BEFREE This is the first study to report comparative proteomics of Descemet's membrane tissue, and implicates dysregulation of APOE and IGHG1 proteins in the pathogenesis of Fuchs endothelial corneal dystrophy. 31206232 2019
Entrez Id: 10059
Gene Symbol: DNM1L
DNM1L
0.010 Biomarker disease BEFREE Immunoblotting of FECD ex vivo specimens revealed an accumulation of PINK1 and phospho-Parkin (Ser65) along with loss of total Parkin and total Drp1. 31361992 2019
Entrez Id: 406978
Gene Symbol: MIR199B
MIR199B
0.010 Biomarker disease BEFREE Our results support miR-199b-5p as a potential therapeutic target to prevent or slow down the progression of FECD disease. 31705138 2019
Entrez Id: 8562
Gene Symbol: DENR
DENR
0.010 Biomarker disease BEFREE Immunoblotting of FECD ex vivo specimens revealed an accumulation of PINK1 and phospho-Parkin (Ser65) along with loss of total Parkin and total Drp1. 31361992 2019
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
0.010 Biomarker disease BEFREE Immunoblotting of FECD ex vivo specimens revealed an accumulation of PINK1 and phospho-Parkin (Ser65) along with loss of total Parkin and total Drp1. 31361992 2019
Entrez Id: 63971
Gene Symbol: KIF13A
KIF13A
0.010 Biomarker disease BEFREE Three genes (MBNL1, KIF13A, AKAP13) that were previously identified as misspliced in patients with a CTG TNR expansion and FECD disease (RE+/FECD+) were found normally spliced in RE+/FECD- samples. 31469403 2019
Entrez Id: 7143
Gene Symbol: TNR
TNR
0.010 Biomarker disease BEFREE To determine if CTG18.1 TNR expansion length prognosticates the clinical progression of Fuchs' Endothelial Corneal Dystrophy (FECD). 30682148 2019
Entrez Id: 7402
Gene Symbol: UTRN
UTRN
0.010 Biomarker disease BEFREE Immunoblotting of FECD ex vivo specimens revealed an accumulation of PINK1 and phospho-Parkin (Ser65) along with loss of total Parkin and total Drp1. 31361992 2019
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: 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: 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: 55349
Gene Symbol: CHDH
CHDH
0.010 Biomarker disease BEFREE No statistically significant difference in gene regulation was observed for the function-related families ATP1, SLC4, SLC16, AQP, TJP, and CDH between the FECD and the healthy cell models. 29698634 2018
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: 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: 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: 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: 55872
Gene Symbol: PBK
PBK
0.010 Biomarker disease BEFREE To compare long-term outcomes of repeated corneal transplantations (CT), based on primary indication (Fuchs endothelial dystrophy [FED] vs pseudophakic bullous keratoplasty [PBK]), surgical technique (penetrating keratoplasty [PK] vs endothelial keratoplasty [EK]), and indication for repeated grafting. 29963996 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: 729230
Gene Symbol: CCR2
CCR2
0.010 GeneticVariation 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