FGF23 wt Allele

Preferred Label : FGF23 wt Allele;

NCIt synonyms : HPDR2; PHPTC; FGF-23; ADHR; Fibroblast Growth Factor 23 wt Allele; HYPF; FGFN;

NCIt definition : Human FGF23 wild-type allele is located in the vicinity of 12p13.3 and is approximately 12 kb in length. This allele, which encodes fibroblast growth factor 23 protein, plays a role in regulation of phosphate homeostasis. Mutations in this gene are associated with autosomal dominant hypophosphatemic rickets (ADHR) and familial tumoral calcinosis with hyperphosphatemia. It is overexpressed in oncogenic hypophosphatemic osteomalacia (OHO).;

GenBank Accession Number : AF263537;

Details

Origin ID

C104383;

UMLS CUI

C3539654;

Automatic exact mappings (from CISMeF team)
- Arginine vasopressin receptor 2 [OMIM gene]
- Autosomal dominant hypophosphataemic rickets [ICD-11 More detail]
- Autosomal dominant hypophosphatemic rickets [ORDO Disease]
- FGF-23 [MedDRA LLT]
- Fibroblast growth factor 23 [OMIM gene]
- Fibroblast growth factor 23 [LOINC component]
- Hypophosphatemic rickets, autosomal dominant [OMIM Phenotype]
- Tumoral calcinosis, hyperphosphatemic, familial, 1 [OMIM Phenotype]
- fibroblast growth factor 23 [ORDO Gene]
- hyperphosphatemic familial tumoral calcinosis [DO Concept]
OMIM relation
- Fibroblast growth factor 23 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12p13.3 [NCIt concept]
gene_is_element_in_pathway
- Actin Cytoskeleton Regulation Pathway [NCIt concept]
- FGF Signaling Pathway [NCIt concept]
- MAPK Signaling Pathway [NCIt concept]
- Melanoma Pathway [NCIt concept]
gene_plays_role_in_process
- Angiogenic Process [NCIt concept]
- Cell Differentiation Process [NCIt concept]
- Cell Proliferation Regulatory Process [NCIt concept]
- Heparin Binding [NCIt concept]
- Receptor Binding [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

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