Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11 		0.030 GeneticVariation disease BEFREE Two blinding corneal dystrophies, pediatric-onset congenital hereditary endothelial dystrophy (CHED) and some cases of late-onset Fuchs endothelial corneal dystrophy (FECD), are caused by SLC4A11 mutations. 31273259 2019
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1 		0.030 Biomarker disease BEFREE Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort. 29799290 2018
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1 		0.030 GeneticVariation disease BEFREE Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India. 26622166 2015
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11 		0.030 GeneticVariation disease BEFREE SLC4A11 mutations contribute to 11% (5/45) of sporadic late-onset FECD in the cohort studied. 25007886 2014
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11 		0.030 Biomarker disease BEFREE The reduction in movement of WT protein to the cell surface caused by FECD SLC4A11 helps to explain the dominant inheritance of this disorder. 22072594 2012
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1 		0.030 Biomarker disease BEFREE Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy. 18172091 2008
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.020 GeneticVariation disease BEFREE Association of ZEB1 and TCF4 rs613872 changes with late onset Fuchs endothelial corneal dystrophy in patients from northern India. 26622166 2015
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.020 Biomarker disease BEFREE Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy. 21533127 2011
Entrez Id: 125336
Gene Symbol: LOXHD1
LOXHD1 		0.010 Biomarker disease BEFREE Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs' endothelial corneal dystrophy in an Indian cohort. 29799290 2018
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2 		0.010 GeneticVariation disease BEFREE No mutations were identified in COL8A2, in neither the late-onset cohort nor the early-onset family, suggesting genetic heterogeneity in this FECD family. 25007886 2014
Entrez Id: 58495
Gene Symbol: OVOL2
OVOL2 		0.010 AlteredExpression disease BEFREE When expressed alone, FECD- and CHED2-causing mutant SLC4A11 proteins are primarily retained intracellularly. 22072594 2012