Details of Disease

General Information of Disease (ID: DISVK3ZA)

Disease Name Corneal dystrophy, Fuchs endothelial, 6
Synonyms
FECD6; corneal dystrophy, Fuchs endothelial, late-onset; corneal dystrophy, Fuchs endothelial, 6; corneal dystrophy, Fuchs endothelial, type 6; ZEB1 Fuchs' endothelial dystrophy; Fuchs' endothelial dystrophy caused by mutation in ZEB1
Definition Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the ZEB1 gene.
Disease Hierarchy
DISL7TXC: Fuchs' endothelial dystrophy
DISVK3ZA: Corneal dystrophy, Fuchs endothelial, 6
Disease Identifiers
MONDO ID
MONDO_0013206
UMLS CUI
C2750448
OMIM ID
613270
MedGen ID
442478

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ZEB1 OTEDXTGD Limited Autosomal dominant [1]
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References

1 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.