Genopathy
Gene-Disorder Association · Article
Gene
ERCC2
ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit
Disorder
Xeroderma Pigmentosum, Variant Type
First reported 1994
Supporting publications 107
Key publication · gene–disorder Transcription factor b (TFIIH) is required during nucleotide-excision repair in yeast.Nature · 1994
Key publication · disorder [Xeroderma pigmentosum with disorders of the central nervous system; a histopathological study].Folia psychiatrica et neurologica japonica · 1950
Manually curated
Association Review

In brief

The association between ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit) and Xeroderma Pigmentosum, Variant Type is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 87
Symptoms 81
Compounds 0
Trials 0
Publications 107
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

3 sources

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

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03
ERCC2

The gene

2 source summaries

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

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04
Xeroderma Pigmentosum, Variant Type

The disorder

18 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

68 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

87 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

107 publications

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

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09
Provenance

References & sources

20 references

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

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