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

N. diseases: 310; N. variants: 16
Disease: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6 ×
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