Genopathy
Gene-Disorder Association · Article
Gene
COQ8B
Coenzyme Q8B
Disorder
Nephrotic Syndrome, Type 9
First reported 2013
Supporting publications 7
Key publication · gene–disorder ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.The Journal of clinical investigation · 2013
Key publication · disorder The epidemiology of hyperlipoproteinemia in a Rumanian general population sample. Study of 7,085 cases.Diabete & metabolisme · 1976
Manually curated
Association Review

In brief

The association between COQ8B (Coenzyme Q8B) and Nephrotic Syndrome, Type 9 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 41
Symptoms 15
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

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
COQ8B

The gene

1 source summary

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

Request access
04
Nephrotic Syndrome, Type 9

The disorder

8 database identifiers

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

Request access
05
Phenotype

Clinical features

7 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

41 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

7 publications

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

Request access
09
Provenance

References & sources

13 references

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

Request access