Genopathy
Gene-Disorder Association · Article
Gene
PHEX
Phosphate Regulating Endopeptidase X-Linked
Disorder
Bone Disease
First reported 1998
Supporting publications 2
Key publication · gene–disorder Pex mRNA is localized in developing mouse osteoblasts and odontoblasts.The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society · 1998
Key publication · disorder Multiple myeloma. II. Variability of roentgen appearance and effect of urethane therapy on skeletal disease.The American journal of roentgenology and radium therapy · 1950
Manually curated
Association Review

In brief

The association between PHEX (Phosphate Regulating Endopeptidase X-Linked) and Bone Disease is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 4
Compounds 0
Trials 0
Publications 2
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

1 source

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

Request access
03
PHEX

The gene

1 source summary

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

Request access
04
Bone Disease

The disorder

10 database identifiers

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

Request access
05
Literature

Reading

2 publications

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

Request access
06
Provenance

References & sources

5 references

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

Request access