Genopathy
Gene-Disorder Association · Article
Gene
DDB2
Damage Specific DNA Binding Protein 2
Disorder
Xeroderma Pigmentosum Group E
First reported 2003
Supporting publications 4
Key publication · gene–disorder True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product.Human molecular genetics · 2003
Key publication · disorder XERODERMA PIGMENTOSUM. V. STUDIES OF 17-KETOSTEROIDS AND TOTAL 17-HYDROXYCORTICOSTEROIDS.The British journal of dermatology · 1963
Manually curated
Association Review

In brief

The association between DDB2 (Damage Specific DNA Binding Protein 2) and Xeroderma Pigmentosum Group E is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 51
Symptoms 0
Compounds 0
Trials 0
Publications 4
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
DDB2

The gene

1 source summary

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

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04
Xeroderma Pigmentosum Group E

The disorder

4 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

51 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

4 publications

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

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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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