SIL1 and Cataract: Association Evidence | Genopathy

Gene-Disorder Association · Article

Gene

SIL1

SIL1 Nucleotide Exchange Factor

Disorder

Cataract

First reported 2005

Supporting publications 2

Key publication · gene–disorder Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.Nature genetics · 2005

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 SIL1 (SIL1 Nucleotide Exchange Factor) and Cataract is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2

Clinical variants 0

Symptoms 0

Compounds 0

Trials 0

Publications 2

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

SIL1

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

Literature

Reading

2 publications

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

06

Provenance

References & sources

5 references

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