Genopathy
Gene-Disorder Association · Article
Gene
PEX1
Peroxisomal Biogenesis Factor 1
Disorder
Peroxisome Biogenesis Disorder 1b
First reported 1997
Supporting publications 52
Key publication · gene–disorder Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.Nature genetics · 1997
Key publication · disorder Metabolic pathways in peroxisomes and glyoxysomes.Annual review of biochemistry · 1981
Manually curated
Association Review

In brief

The association between PEX1 (Peroxisomal Biogenesis Factor 1) and Peroxisome Biogenesis Disorder 1b is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 233
Symptoms 55
Compounds 0
Trials 0
Publications 52
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

5 sources

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

Request access
03
PEX1

The gene

1 source summary

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

Request access
04
Peroxisome Biogenesis Disorder 1b

The disorder

19 database identifiers

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

Request access
05
Phenotype

Clinical features

40 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

233 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

52 publications

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

Request access
09
Provenance

References & sources

17 references

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

Request access