ZEB1, zinc finger E-box binding homeobox 1, 6935

N. diseases: 310; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 GeneticVariation disease UNIPROT Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies. 25190660 2014
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 GeneticVariation disease UNIPROT Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation. 23599324 2013
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 GeneticVariation disease UNIPROT Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 20036349 2010
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. 16252232 2005
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 Biomarker disease CTD_human
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 CausalMutation disease CLINVAR
CUI: C2750448
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 AlteredExpression disease BEFREE Furthermore, we find that miR-199b-5p directly and negatively regulates Snai1 and ZEB1, two zinc finger transcription factors that lead to increased ECM deposition in FECD. 31705138 2019
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 Biomarker disease BEFREE Here, we report the contribution of ZEB1 and LOXHD1 genes in our sporadic late-onset FECD cohort. 29799290 2018
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 AlteredExpression disease BEFREE The CTG18.1 repeat expansion may reduce gene expression of TCF4 and ZEB1, suggesting that a mechanism triggering a loss of function may contribute to FECD. 28608272 2017
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE This is the first report of genetic variations in ZEB1 and TCF4 SNP rs613872 in patients with FECD from northern India that suggests a possible role in disease pathogenesis and the regulation of endothelial cell density. 26622166 2015
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 AlteredExpression disease BEFREE These findings suggest that increased expression levels of ZEB1 and Snail1 in FECD cells were responsible for an increased responsiveness to TGF-β present in the aqueous humor and excessive production of ECM. 26302187 2015
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE Conversely, as the reported ZEB1 missense mutations do not significantly impact protein abundance or nuclear localization, the effect of these mutations on ZEB1 function and their relationship to FECD, if any, remain to be elucidated. 25190660 2014
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE Variation in the COL8A2, SLC4A11, and ZEB1 genes is present in only a small fraction of our African American cases and as such does not appear to significantly contribute to the genetic risk of FECD in African Americans. 24348007 2013
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE Mutations in several genes have been implicated as playing a pathogenic role in the corneal endothelial dystrophies: VSX1 mutations in PPCD1; COL8A2 mutations in PPCD2 and FECD; ZEB1 mutations in PPCD3 and FECD; and SLC4A11 mutations in CHED2 and FECD. 23662738 2013
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE In the keratoconus cohort, a novel heterozygous pathogenic mutation in exon 7 (c.1920G > T; p.Gln640His) of ZEB1 was identified in a family affected with keratoconus and Fuchs' endothelial corneal dystrophy. 23599324 2013
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GermlineCausalMutation disease ORPHANET Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 20036349 2010
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 Biomarker disease GENOMICS_ENGLAND Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 20036349 2010
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 GeneticVariation disease BEFREE Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 20036349 2010
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		0.600 Biomarker disease BEFREE The identification of a novel missense mutation in only one of the patients implied that TCF8 does not play a significant role in the pathogenesis of FECD in this Chinese population. 18172091 2008
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.500 GeneticVariation disease BEFREE Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD).OMIM# of the disease 122000; 609141; 618031.Name of the analysed genes or DNA/chromosome segments OVOL2 (PPCD1); ZEB1 (PPCD3); GRHL2 (PPCD4).OMIM# of the gene(s) 616441; 189909; 608576. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL2gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives. 31201376 2020
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.500 GeneticVariation disease BEFREE The aim of this study was to identify the molecular genetic cause of disease in posterior polymorphous corneal dystrophy (PPCD) probands of diverse origin and to assess the utility of massively parallel sequencing in the detection of ZEB1 mutations. 30851240 2019
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.500 Biomarker disease BEFREE As ZEB1 can act as an activator or repressor of downstream target gene expression depending on Wnt signaling pathway activation or deactivation, we also sought to determine whether or not Wnt signaling is active in PPCD by performing immunohistochemistry in corneal tissue sections derived from an individual affected with PPCD3 and from an individual with genetically unresolved PPCD. 31233731 2019
CUI: C0339284
Disease: Polymorphous corneal dystrophy
Polymorphous corneal dystrophy 		0.500 Biomarker disease BEFREE PPCD is characterized by a cadherin-switch and transition to an epithelial-like transcriptomic and cellular phenotype, which we study in a cell-based model of PPCD generated using CRISPR-Cas9-mediated ZEB1 knockout in corneal endothelial cells (CEnCs). 31194824 2019