Genopathy
Gene-Disorder Association · Article
Gene
ERCC8
ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit
Disorder
Cockayne Syndrome A
First reported 1995
Supporting publications 15
Key publication · gene–disorder The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.Cell · 1995
Key publication · disorder A syndrome resembling progeria: A review of two cases.Archives of disease in childhood · 1950
Manually curated
Association Review

In brief

The association between ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit) and Cockayne Syndrome A is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 139
Symptoms 155
Compounds 0
Trials 0
Publications 15
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

5 sources

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

Request access
03
ERCC8

The gene

1 source summary

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

Request access
04
Cockayne Syndrome A

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

114 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

139 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

15 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access