Genopathy
Gene-Disorder Association · Article
Gene
SIL1
SIL1 Nucleotide Exchange Factor
First reported 1955
Manually curated
Association Review

In brief

The association between SIL1 (SIL1 Nucleotide Exchange Factor) and Cataract 1, Multiple Types is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 8
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.

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02
Provenance

Evidence and sources

1 source

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

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03
SIL1

The gene

1 source summary

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

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04
Cataract 1, Multiple Types

The disorder

9 database identifiers

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

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05
Phenotype

Clinical features

4 clinical features

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

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06
Provenance

References & sources

4 references

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

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