Genopathy
Gene-Disorder Association · Article
Gene
PEX6
Peroxisomal Biogenesis Factor 6
Disorder
Peroxisome Biogenesis Disorder 4a
First reported 1996
Supporting publications 26
Key publication · gene–disorder Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.American journal of human genetics · 1996
Key publication · disorder Familial occurrence of Ivemark syndrome with splenic hypoplasia and asplenia in sibs.Journal of medical genetics · 1973
Manually curated
Association Review

In brief

The association between PEX6 (Peroxisomal Biogenesis Factor 6) and Peroxisome Biogenesis Disorder 4a is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and causative variation.

Sources 4
Clinical variants 215
Symptoms 24
Compounds 0
Trials 0
Publications 26
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
PEX6

The gene

1 source summary

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

Request access
04
Peroxisome Biogenesis Disorder 4a

The disorder

12 database identifiers

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

Request access
05
Phenotype

Clinical features

14 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

215 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

26 publications

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

Request access
09
Provenance

References & sources

14 references

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

Request access