Genopathy
Gene-Disorder Association · Article
Gene
LOC126806484
CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr2:207634423-207635622
Disorder
Leigh Disease
First reported 1951
Key publication · disorder Subacute necrotizing encephalomyelopathy in an infant.Journal of neurology, neurosurgery, and psychiatry · 1951
Association Review

In brief

The association between LOC126806484 (CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr2:207634423-207635622) and Leigh Disease is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 2
Symptoms 103
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
LOC126806484

The gene

1 source summary

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

Request access
04
Leigh Disease

The disorder

13 database identifiers

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

Request access
05
Phenotype

Clinical features

98 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

2 clinical variants

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

Request access
07
Provenance

References & sources

6 references

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

Request access