Genopathy
Gene-Disorder Association · Article
Gene
LOC126859565
CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr6:5368745-5369944
Disorder
Combined Oxidative Phosphorylation Deficiency 14
First reported 2016
Supporting publications 15
Key publication · gene–disorder A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia.Human mutation · 2016
Key publication · disorder Statistical features of human exons and their flanking regions.Human molecular genetics · 1998
Manually curated
Association Review

In brief

The association between LOC126859565 (CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr6:5368745-5369944) and Combined Oxidative Phosphorylation Deficiency 14 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 178
Symptoms 55
Compounds 0
Trials 0
Publications 15
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
LOC126859565

The gene

1 source summary

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

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04
Combined Oxidative Phosphorylation Deficiency 14

The disorder

13 database identifiers

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

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05
Phenotype

Clinical features

30 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

178 clinical variants

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

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07
Literature

Reading

15 publications

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

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08
Provenance

References & sources

14 references

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

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