Genopathy
Gene-Disorder Association · Article
Gene
ZEB1
Zinc Finger E-Box Binding Homeobox 1
Disorder
Corneal Dystrophy, Posterior Polymorphous, 1
First reported 2005
Supporting publications 7
Key publication · gene–disorder Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells.American journal of human genetics · 2005
Key publication · disorder Hereditary polymorphous deep degeneration of the cornea.A.M.A. archives of ophthalmology · 1953
Manually curated
Association Review

In brief

The association between ZEB1 (Zinc Finger E-Box Binding Homeobox 1) and Corneal Dystrophy, Posterior Polymorphous, 1 is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 2
Clinical variants 3
Symptoms 50
Compounds 0
Trials 0
Publications 7
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
ZEB1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Corneal Dystrophy, Posterior Polymorphous, 1

The disorder

15 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

26 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

3 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

7 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

13 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access