Genopathy
Gene-Disorder Association · Article
Gene
ERCC2
ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit
Disorder
Cerebrooculofacioskeletal Syndrome 1
First reported 1971
Supporting publications 1
Key publication · disorder Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome.The Journal of pediatrics · 1971
Manually curated
Association Review

In brief

The association between ERCC2 (ERCC Excision Repair 2, TFIIH Core Complex Helicase Subunit) and Cerebrooculofacioskeletal Syndrome 1 is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.

Sources 2
Clinical variants 1
Symptoms 105
Compounds 0
Trials 0
Publications 1
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
ERCC2

The gene

2 source summaries

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

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04
Cerebrooculofacioskeletal Syndrome 1

The disorder

14 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

80 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

1 clinical variant

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

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

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08
Literature

Reading

1 publication

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

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09
Provenance

References & sources

9 references

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

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