Genopathy
Gene-Disorder Association · Article
Gene
ERCC8
ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit
Disorder
Cockayne Syndrome
First reported 1996
Supporting publications 25
Key publication · gene–disorder Relationships between DNA repair and transcription.Annual review of biochemistry · 1996
Key publication · disorder [Nanism with retinitis pigmentosa & deafness; Cockayne syndrome].La semaine des hopitaux : organe fonde par l'Association d'enseignement medical des hopitaux de Paris · 1958
Manually curated
Association Review

In brief

The association between ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit) and Cockayne Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 18
Symptoms 123
Compounds 0
Trials 0
Publications 25
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
ERCC8

The gene

1 source summary

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

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04
Cockayne Syndrome

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

118 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

18 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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08
Literature

Reading

25 publications

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

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09
Provenance

References & sources

18 references

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

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