Association Review
In brief The association between COQ2 (Coenzyme Q2, Polyprenyltransferase) and Coenzyme Q10 Deficiency Disease is reported, with clinical genetic testing available.
Sources
1
Clinical variants
10
Symptoms
2
Compounds
0
Trials
0
Publications
1
Contents
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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1 source summary
A gene summary alongside the source descriptions it was distilled from.
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04
Coenzyme Q10 Deficiency Disease
The disorder 6 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 10 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
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06
Mechanism overlap
Shared mechanisms 1 shared pathway
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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1 publication
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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08
Provenance
References & sources 9 references
Every source and publication cited across this dossier, as one numbered reference list.
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