Genopathy
Gene-Disorder Association · Article
Gene
PHEX
Phosphate Regulating Endopeptidase X-Linked
Disorder
Hypophosphatemic Rickets
First reported 1993
Supporting publications 70
Key publication · gene–disorder Flanking markers define the X-linked hypophosphatemic rickets gene locus.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 1993
Key publication · disorder [Liver cirrhosis with dwarfism in early infancy and hypophosphatemic rickets; contribution to the problem of so-called renal rickets].Annales paediatrici. International review of pediatrics · 1950
Manually curated
Association Review

In brief

The association between PHEX (Phosphate Regulating Endopeptidase X-Linked) and Hypophosphatemic Rickets is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 26
Symptoms 0
Compounds 0
Trials 0
Publications 70
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

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

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03
PHEX

The gene

1 source summary

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

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04
Hypophosphatemic Rickets

The disorder

5 database identifiers

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

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05
ClinVar and variant evidence

Genetic basis

26 clinical variants

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

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06
Literature

Reading

70 publications

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

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07
Provenance

References & sources

12 references

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

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