Genopathy
Gene-Disorder Association · Article
Gene
CFAP418
Cilia And Flagella Associated Protein 418
Disorder
Fundus Dystrophy
First reported 2016
Supporting publications 5
Key publication · gene–disorder Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia.Ophthalmic genetics · 2016
Key publication · disorder Further cases of a fundus dystrophy with unusual features.The British journal of ophthalmology · 1950
Manually curated
Association Review

In brief

The association between CFAP418 (Cilia And Flagella Associated Protein 418) and Fundus Dystrophy is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 19
Symptoms 0
Compounds 0
Trials 0
Publications 5
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

2 sources

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

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03
CFAP418

The gene

1 source summary

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

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04
Fundus Dystrophy

The disorder

6 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

19 clinical variants

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

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06
Literature

Reading

5 publications

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

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07
Provenance

References & sources

8 references

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

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