BFSP1 and Cataract: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

BFSP1

Beaded Filament Structural Protein 1

Disorder

Cataract

First reported 1999

Key publication · gene–disorder [Changes in cytoskeletal proteins in childhood cataract lenses].Nippon Ganka Gakkai zasshi · 1999

Key publication · disorder Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia; a genetic and clinical investigation.Confinia neurologica · 1950

Manually curated

Association Review

In brief

The association between BFSP1 (Beaded Filament Structural Protein 1) and Cataract is reported, with clinical genetic testing available.

Sources 1

Clinical variants 0

Symptoms 0

Compounds 0

Trials 0

Publications 0

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

1 source

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

03

BFSP1

The gene

1 source summary

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

04

Cataract

The disorder

8 database identifiers

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

05

Provenance

References & sources

2 references

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