PHEX Gene - CISMeF

Preferred Label : PHEX Gene;

NCIt synonyms : Phosphate Regulating Endopeptidase X-Linked Gene; PHEX;

NCIt definition : This gene plays a role in osteogenic cell differentiation, bone mineralization, dentin mineralization and renal phosphate reabsorption.;

Details

Origin ID

C204478;

UMLS CUI

C1418526;

HGNC gene
- phosphate regulating endopeptidase X-linked [HGNC gene]
OMIM relation
- Phosphate-regulating endopeptidase, X-linked [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- PHEX gene [LOINC component]
- Phosphate-regulating endopeptidase, X-linked [OMIM gene]
- phosphate regulating endopeptidase X-linked [HGNC gene]
gene_encodes_gene_product
- Phosphate-Regulating Neutral Endopeptidase PHEX [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_mapped_to_disease
- X-Linked Dominant Hypophosphatemic Rickets [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Metal Ion Binding [NCIt concept]
- Mineralization [NCIt concept]
- Proteolysis [NCIt concept]
- Proteolytic Processing [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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