Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84627
Gene Symbol: ZNF469
ZNF469
0.300 Biomarker group CTD_human Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. 18452888 2008
Entrez Id: 6863
Gene Symbol: TAC1
TAC1
0.300 Therapeutic group CTD_human Restoration of corneal epithelial barrier function and wound healing by substance P and IGF-1 in rats with capsaicin-induced neurotrophic keratopathy. 12824234 2003
Entrez Id: 3479
Gene Symbol: IGF1
IGF1
0.300 Therapeutic group CTD_human Restoration of corneal epithelial barrier function and wound healing by substance P and IGF-1 in rats with capsaicin-induced neurotrophic keratopathy. 12824234 2003
Entrez Id: 942
Gene Symbol: CD86
CD86
0.200 Biomarker group RGD Cauterization of central cornea induces recruitment of major histocompatibility complex class II+ Langerhans cells from limbal basal epithelium. 19907296 2010
Entrez Id: 3605
Gene Symbol: IL17A
IL17A
0.020 Biomarker group BEFREE <b>Conclusion:</b> IL-17 plays a role in the pathogenesis of ocular surface and corneal disease and targeting this cytokine may provide a useful treatment option in the future. 30230384 2019
Entrez Id: 64682
Gene Symbol: ANAPC1
ANAPC1
0.020 GeneticVariation group BEFREE To date, 5 of the identified loci, at ANAPC1, ADAMTS8, ADAMTS17, ABCA6, and COL6A1, have not previously been reported as associated with corneal disease. 31246245 2019
Entrez Id: 64682
Gene Symbol: ANAPC1
ANAPC1
0.020 GeneticVariation group BEFREE Most notably, an intergenic variant close to ANAPC1 (rs78658973[A], frequency = 28.3%) strongly associates with decreased cell density and accounts for 24% of the population variance in cell density (β = -0.77 SD, P = 1.8 × 10<sup>-314</sup>) and associates with increased CH (β = 0.19 SD, P = 2.6 × 10<sup>-19</sup>) without affecting risk of corneal diseases and glaucoma. 30894546 2019
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.020 Biomarker group BEFREE However, due to the limited evidence, further research should be performed on the safety of anti-VEGF administration in patients with different corneal disorders. 30142821 2018
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.020 AlteredExpression group BEFREE Transforming growth factor-β-induced protein (TGFBIp) is highly expressed in the cornea, and mutant TGFBIp induces corneal diseases. 28120575 2017
Entrez Id: 3605
Gene Symbol: IL17A
IL17A
0.020 Biomarker group BEFREE Together, the results of these studies identify an essential role for IL-17-producing neutrophils and Th17 cells in regulating the growth of fungal hyphae and the severity of corneal disease. 24591369 2014
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.020 Biomarker group BEFREE Transmembrane water-flux through SLC4A11: a route defective in genetic corneal diseases. 23813972 2013
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
0.020 Biomarker group BEFREE Corneal disease is characterized by loss of corneal immunologic privilege and extensive neovascularization driven by vascular endothelial growth factor-A (VEGF-A). 21998580 2011
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.020 Biomarker group BEFREE Autosomal recessive congenital hereditary endothelial dystrophy (AR-CHED or CHED2) is a bilateral corneal disorder manifesting at birth or in early childhood. 17679935 2007
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.020 GeneticVariation group LHGDN Together with other results, our observation makes it unlikely that TGFBIp is imported into the cornea from the circulation as reported for other abundant extracellular corneal proteins and suggests corneal origin of TGFBIp deposits in individuals with inherited corneal diseases caused by mutations in the TGFBI gene. 17653042 2007
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.020 Biomarker group BEFREE Evidence against a blood derived origin for transforming growth factor beta induced protein in corneal disorders caused by mutations in the TGFBI gene. 17653042 2007
Entrez Id: 1291
Gene Symbol: COL6A1
COL6A1
0.010 Biomarker group BEFREE To date, 5 of the identified loci, at ANAPC1, ADAMTS8, ADAMTS17, ABCA6, and COL6A1, have not previously been reported as associated with corneal disease. 31246245 2019
Entrez Id: 940
Gene Symbol: CD28
CD28
0.010 Biomarker group BEFREE Taken together, these data suggest that CD28 costimulation is required for HSK but that while initial infection of TG is greater in CD28<sup>-/-</sup> mice, this begins to normalize with time and this normalization is concurrent with the delayed development of antigen-specific CD8<sup>+</sup> T cells.<b>IMPORTANCE</b> We study the pathogenesis of herpes simplex virus-mediated corneal disease. 31167920 2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
0.010 Biomarker group BEFREE Thus, we assessed the function of Cx43 during inflammatory corneal disease. 30805212 2019
Entrez Id: 91662
Gene Symbol: NLRP12
NLRP12
0.010 AlteredExpression group BEFREE The over-expression of NLRP12 in B6 corneas significantly ameliorated the severity of corneal disease, bacterial burden, PMN infiltration and pro-inflammatory cytokine expression. 30556841 2018
Entrez Id: 4313
Gene Symbol: MMP2
MMP2
0.010 AlteredExpression group BEFREE The downregulation of matrix metalloproteinase-2 and upregulation of alpha1-proteinase inhibitor by 17β-estradiol possibly serve as protective factor for the normal tomography in antagonizing the extracellular matrix degeneration in many cornea diseases. 28332021 2018
Entrez Id: 30813
Gene Symbol: VSX1
VSX1
0.010 Biomarker group BEFREE While we cannot exclude a role for VSX1 as a risk factor for corneal disease, on its own, it does not appear to play a major causative role. 30535423 2018
Entrez Id: 60
Gene Symbol: ACTB
ACTB
0.010 Biomarker group BEFREE In conclusion, the actin cytoskeleton regulatory pathway, MAPK and dilated cardiomyopathy signaling pathways, as well as CFL1 and ITGB6 genes, may be regulated by Srf to serve important roles in the progression of corneal disease. 27922676 2017
Entrez Id: 4092
Gene Symbol: SMAD7
SMAD7
0.010 Biomarker group BEFREE Our data demonstrates that AAV5-Smad7 gene therapy is relatively safe with significant potential for the treatment of corneal disease currently resulting in fibrosis and impaired vision. 28339457 2017
Entrez Id: 7306
Gene Symbol: TYRP1
TYRP1
0.010 Biomarker group BEFREE The realization of the importance of TRP channels acting as polymodal sensors of environmental stresses has identified potential drug targets for corneal disease. 29238714 2017
Entrez Id: 2551
Gene Symbol: GABPA
GABPA
0.010 Biomarker group BEFREE Nrf2, a Potential Therapeutic Target against Oxidative Stress in Corneal Diseases. 29209447 2017