Genopathy
Gene-Disorder Association · Article
Gene
FTH1
Ferritin Heavy Chain 1
Disorder
Bestrophinopathy, Autosomal Recessive
First reported 2011
Supporting publications 10
Key publication · gene–disorder Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.Investigative ophthalmology & visual science · 2011
Key publication · disorder Influence of gyrA mutation on expression of Erwinia chrysanthemi clb genes cloned in Escherichia coli.Journal of bacteriology · 1986
Manually curated
Association Review

In brief

The association between FTH1 (Ferritin Heavy Chain 1) and Bestrophinopathy, Autosomal Recessive is well established and manually curated, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 3
Symptoms 5
Compounds 0
Trials 0
Publications 10
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

1 source

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

Request access
03
FTH1

The gene

1 source summary

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

Request access
04
Bestrophinopathy, Autosomal Recessive

The disorder

12 database identifiers

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

Request access
05
Phenotype

Clinical features

5 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
Literature

Reading

10 publications

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

Request access
08
Provenance

References & sources

12 references

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

Request access