Genopathy
Gene-Disorder Association · Article
Gene
LOC126861205
MED14-Independent Group 3 Enhancer GRCh37_chr11:47236089-47237288
Disorder
Xeroderma Pigmentosum Group E
First reported 1963
Key publication · disorder XERODERMA PIGMENTOSUM. V. STUDIES OF 17-KETOSTEROIDS AND TOTAL 17-HYDROXYCORTICOSTEROIDS.The British journal of dermatology · 1963
Association Review

In brief

The association between LOC126861205 (MED14-Independent Group 3 Enhancer GRCh37_chr11:47236089-47237288) and Xeroderma Pigmentosum Group E is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 10
Symptoms 0
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.

Request access
02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
LOC126861205

The gene

1 source summary

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

Request access
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).

Request access
05
ClinVar and variant evidence

Genetic basis

10 clinical variants

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

Request access
06
Provenance

References & sources

2 references

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

Request access