Genopathy
Gene-Disorder Association · Article
Gene
XPC
XPC Complex Subunit, DNA Damage Recognition And Repair Factor
Disorder
Bloom Syndrome
First reported 1954
Key publication · disorder Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs; probably a syndrome entity.A.M.A. American journal of diseases of children · 1954
Manually curated
Association Review

In brief

The association between XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor) and Bloom Syndrome is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 128
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
XPC

The gene

1 source summary

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

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04
Bloom Syndrome

The disorder

12 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

96 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

6 references

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

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