Genopathy
Gene-Disorder Association · Article
Gene
LOC130002899
ATAC-STARR-Seq Lymphoblastoid Silent Region 20452
Disorder
Leigh Syndrome, Nuclear
First reported 1999
Supporting publications 7
Key publication · gene–disorder Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency.Annals of neurology · 1999
Key publication · disorder Subacute necrotizing encephalomyelopathy in an infant.Journal of neurology, neurosurgery, and psychiatry · 1951
Manually curated
Association Review

In brief

The association between LOC130002899 (ATAC-STARR-Seq Lymphoblastoid Silent Region 20452) and Leigh Syndrome, Nuclear is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 52
Symptoms 37
Compounds 0
Trials 0
Publications 7
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
LOC130002899

The gene

1 source summary

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

Request access
04
Leigh Syndrome, Nuclear

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

30 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

52 clinical variants

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

Request access
07
Literature

Reading

7 publications

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

Request access
08
Provenance

References & sources

11 references

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

Request access