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

N. diseases: 310; N. variants: 16
Disease: Keratoconus ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779148597
rs779148597
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1
CUI: C0022578
Disease:
Keratoconus 		0.010 GeneticVariation 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