FOXC1 and Aniridia: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

FOXC1

Forkhead Box C1

Disorder

Aniridia

First reported 2008

Supporting publications 3

Key publication · gene–disorder Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.Ophthalmic genetics · 2008

Key publication · disorder [Some mutations affecting the eyes, collected as examples in the canton of Neuchatel and the Jura Bernois (congenital aniridia, universal albinism, congenital anophthalmos, total achromatopsia, oligophrenia associated with keratoconus, with ectopy of the crystalline, with congenital cataract and with atrophy of the optic nerve)].Bulletin der Schweizerischen Akademie der Medizinischen Wissenschaften · 1950

Manually curated

Association Review

In brief

The association between FOXC1 (Forkhead Box C1) and Aniridia is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2

Clinical variants 0

Symptoms 28

Compounds 0

Trials 0

Publications 3

01

At a glance

Association overview

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

02

Provenance

Evidence and sources

2 sources

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

03

FOXC1

The gene

1 source summary

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

04

Aniridia

The disorder

9 database identifiers

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

05

Phenotype

Clinical features

27 clinical features

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

06

Mechanism overlap

Shared mechanisms

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

07

Literature

Reading

3 publications

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

08

Provenance

References & sources

8 references

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