Genopathy
Gene-Disorder Association · Article
Gene
LOC126861834
BRD4-Independent Group 4 Enhancer GRCh37_chr13:103518038-103519237
Disorder
Xeroderma Pigmentosum Group G
First reported 1978
Supporting publications 2
Key publication · disorder Xeroderma pigmentosum--a unique variant with neurological involvement.The British journal of dermatology · 1978
Association Review

In brief

The association between LOC126861834 (BRD4-Independent Group 4 Enhancer GRCh37_chr13:103518038-103519237) and Xeroderma Pigmentosum Group G is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 21
Symptoms 0
Compounds 0
Trials 0
Publications 2
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
LOC126861834

The gene

1 source summary

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

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04
Xeroderma Pigmentosum Group G

The disorder

3 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

21 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

2 publications

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

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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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