Genopathy
Gene-Disorder Association · Article
Gene
PRX
Periaxin
Disorder
Charcot-Marie-Tooth Disease Type 4f
First reported 2000
Supporting publications 11
Key publication · gene–disorder Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.American journal of human genetics · 2000
Manually curated
Association Review

In brief

The association between PRX (Periaxin) and Charcot-Marie-Tooth Disease Type 4f is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic and likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 175
Symptoms 0
Compounds 0
Trials 0
Publications 11
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

3 sources

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

Request access
03
PRX

The gene

1 source summary

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

Request access
04
Charcot-Marie-Tooth Disease Type 4f

The disorder

6 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

175 clinical variants

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

Request access
06
Literature

Reading

11 publications

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

Request access
07
Provenance

References & sources

13 references

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

Request access