Genopathy
Gene-Disorder Association · Article
Gene
ERCC2
ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit
Disorder
Dyskeratosis Congenita
First reported 1951
Key publication · disorder The so-called "dyskeratosis congenita"; cole, rauschkolb and toomey; pigmentatio parvo-reticularis cum leucoplakia et dystrophia unguium.Dermatologica · 1951
Manually curated
Association Review

In brief

The association between ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit) and Dyskeratosis Congenita is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 64
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
ERCC2

The gene

2 source summaries

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

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04
Dyskeratosis Congenita

The disorder

11 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

62 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

7 references

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

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