Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 Biomarker disease CTD_human
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 CausalMutation disease CLINVAR
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: 1351
Gene Symbol: COX8A
COX8A
0.020 GeneticVariation disease BEFREE Early-onset Fuchs endothelial corneal dystrophy (FECD) has been associated with nonsynonymous mutations in collagen VIII α2 (COL8A2), a key extracellular matrix (ECM) protein in Descemet's membrane (DM). 30471280 2019
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.040 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: 1351
Gene Symbol: COX8A
COX8A
0.020 Biomarker disease BEFREE Collagen VIII mutations, which clinically result in Fuchs' dystrophy, are associated with abnormal cellular accumulation of collagen VIII. 22020132 2011
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.040 AlteredExpression disease BEFREE CTG18.1 repeat expansion may reduce TCF4 gene expression in corneal endothelial cells of German patients with Fuchs' dystrophy. 28608272 2017
Entrez Id: 22915
Gene Symbol: MMRN1
MMRN1
0.010 Biomarker disease BEFREE Due to abnormalities in ECM protein composition and structure in FECD, the stiffness of DM in Col8a2 knock-in mice and wildtype (WT) controls was measured using atomic force microscopy at 5 and 10 months of age, coinciding with the onset of FECD phenotypic abnormalities. 30471280 2019
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 GeneticVariation disease BEFREE Due to abnormalities in ECM protein composition and structure in FECD, the stiffness of DM in Col8a2 knock-in mice and wildtype (WT) controls was measured using atomic force microscopy at 5 and 10 months of age, coinciding with the onset of FECD phenotypic abnormalities. 30471280 2019
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.010 AlteredExpression disease BEFREE Expression of beta ig-h3 in sub-epithelial matrix and posterior collagenous layer of Fuchs' dystrophy is consistent with the synthesis of new extracellular matrices by epithelial and endothelial tissues. beta ig-h3 mRNA in corneal epithelium further supports an epithelial source of this protein. 8921218 1996
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: 3725
Gene Symbol: JUN
JUN
0.010 AlteredExpression disease BEFREE In human FECD samples, real-time PCR demonstrated a statistically significant increase in COX2 mRNA (P < 0.0001) and JUN mRNA (P = 0.002) and tissue microarray analysis showed increased endothelial COX2 (P = 0.02) and JUN protein (P = 0.04). 23449721 2013
Entrez Id: 4513
Gene Symbol: COX2
COX2
0.010 AlteredExpression disease BEFREE In human FECD samples, real-time PCR demonstrated a statistically significant increase in COX2 mRNA (P < 0.0001) and JUN mRNA (P = 0.002) and tissue microarray analysis showed increased endothelial COX2 (P = 0.02) and JUN protein (P = 0.04). 23449721 2013
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 GeneticVariation disease UNIPROT Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488 2001
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 Biomarker disease GENOMICS_ENGLAND Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. 11689488 2001
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.040 Biomarker disease BEFREE Oligonucleotides targeting TCF4 triplet repeat expansion inhibit RNA foci and mis-splicing in Fuchs' dystrophy. 29325021 2018
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 Biomarker disease GENOMICS_ENGLAND Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 18464802 2009
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.040 Biomarker disease BEFREE Quantitative Studies of Muscleblind Proteins and Their Interaction With TCF4 RNA Foci Support Involvement in the Mechanism of Fuchs' Dystrophy. 31560764 2019
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.720 GeneticVariation disease BEFREE To investigate the endothelial gene expression profile in a Col8a2 Q455K mutant knock-in mouse model of early-onset Fuchs' endothelial corneal dystrophy (FECD) and identify potential targets that can be correlated to human late-onset FECD. 23449721 2013