Genopathy
Gene-Disorder Association · Article
Gene
ERCC5
ERCC Excision Repair 5, Endonuclease
Disorder
Cockayne Syndrome
First reported 1996
Supporting publications 11
Key publication · gene–disorder Transcription factor TFIIH and DNA endonuclease Rad2 constitute yeast nucleotide excision repair factor 3: implications for nucleotide excision repair and Cockayne syndrome.Proceedings of the National Academy of Sciences of the United States of America · 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 ERCC5 (ERCC Excision Repair 5, Endonuclease) and Cockayne Syndrome is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 123
Compounds 0
Trials 0
Publications 11
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

1 source

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

Request access
03
ERCC5

The gene

1 source summary

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

Request access
04
Cockayne Syndrome

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

118 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Literature

Reading

11 publications

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

Request access
08
Provenance

References & sources

13 references

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

Request access