Genopathy
Gene-Disorder Association · Article
Gene
ERCC4
ERCC Excision Repair 4, Endonuclease Catalytic Subunit
Disorder
Fanconi Anemia, Complementation Group D1
First reported 1985
Key publication · disorder Reactions of lipoamide dehydrogenase and glutathione reductase with arsonic acids and arsonous acids.Archives of biochemistry and biophysics · 1985
Manually curated
Association Review

In brief

The association between ERCC4 (ERCC Excision Repair 4, Endonuclease Catalytic Subunit) and Fanconi Anemia, Complementation Group D1 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 23
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
ERCC4

The gene

1 source summary

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

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04
Fanconi Anemia, Complementation Group D1

The disorder

8 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

11 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

4 references

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

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