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PHEX

Gene

phosphate regulating endopeptidase X-linked

HGNCHGNC:8918EnsemblENSG00000102174NCBI Gene5251
Locus: gene with protein productLocation: Xp22.11

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asHYP · HPDR · PEX · HPDR1 · HYP1 · XLH
View full nomenclature history (11)
Previous symbolsHYP, HPDR
Alias symbolsPEX, HPDR1, HYP1, XLH
Previous namesphosphate regulating endopeptidase homolog, X-linked, phosphate regulating endopeptidase homolog X-linked, phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)
Alias namesPHEX peptidase, Phosphate-regulating neutral endopeptidase

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Hypophosphatemia

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

M13 metallopeptidases

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.