Genopathy
Gene-Disorder Association · Article
Gene
ACOX2
Acyl-CoA Oxidase 2
Disorder
Bile Acid Synthesis Defect, Congenital, 6
First reported 1984
Supporting publications 4
Key publication · disorder Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome?Clinical genetics · 1984
Manually curated
Association Review

In brief

The association between ACOX2 (Acyl-CoA Oxidase 2) and Bile Acid Synthesis Defect, Congenital, 6 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 14
Symptoms 33
Compounds 0
Trials 0
Publications 4
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
ACOX2

The gene

1 source summary

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

Request access
04
Bile Acid Synthesis Defect, Congenital, 6

The disorder

7 database identifiers

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

Request access
05
Phenotype

Clinical features

13 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

14 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

1 shared pathway

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

Request access
08
Literature

Reading

4 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