Genopathy
Gene-Disorder Association · Article
Gene
LOC130002899
ATAC-STARR-Seq Lymphoblastoid Silent Region 20452
Disorder
Charcot-Marie-Tooth Disease Type 4k
First reported 1999
Key publication · disorder Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency.Human genetics · 1999
Association Review

In brief

The association between LOC130002899 (ATAC-STARR-Seq Lymphoblastoid Silent Region 20452) and Charcot-Marie-Tooth Disease Type 4k is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 1
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.

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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
LOC130002899

The gene

1 source summary

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

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04
Charcot-Marie-Tooth Disease Type 4k

The disorder

5 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

1 clinical variant

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

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06
Provenance

References & sources

3 references

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

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