PHEX
HGNC:8918 · SaudiVarKB evidence summary derived from retained literature mentions.
11Gene mentions
11Publications
4Linked variants
2Associated phenotypes
Associated phenotypes
Co-mentioned in PHEX publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| diabetes mellitus | — | 1 | 1 |
| congenital myopathy | — | 1 | 1 |
Linked variants
Variants normalized to PHEX| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| c.1701A>C | c.1701A>C | 1 | 1 |
| c.1769-1G>C | c.1769-1G>C | 1 | 1 |
| c.1645C>T | c.1645C>T | 1 | 1 |
| p.R549* | p.R549* | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 14 | 2 |
| Saudi Arabia | — | — | 1 |
| Not specified | — | 23 | 1 |
| Not specified | — | 5 | 1 |
| Not specified | — | 15 | 1 |
| Saudi Arabia | — | 2,024 | 1 |
Supporting publications
11 records- 2026SGK3 promoter deletion in late-onset hypophosphatemic rickets, a possible genetic cause of the disease.Orphanet journal of rare diseasesPubMed ↗
- 2024Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series.Endocrinology, diabetes & metabolism case reportsPubMed ↗
- 2024Macrophage-to-osteocyte communication: Impact in a 3D in vitro implant-associated infection model.Acta biomaterialiaPubMed ↗
- 2024Use of Whole-Exome Sequencing and Pedigree Analysis to Identify X-linked Hypophosphatemia in Saudi Arabian Families.Journal of the Endocrine SocietyPubMed ↗
- 2022X-linked Hypophosphatemic Rickets: Awareness, Knowledge, and Practice of Pediatric Endocrinologists in Arab Countries.Journal of pediatric geneticsPubMed ↗
- 2022A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.The Journal of clinical endocrinology and metabolismPubMed ↗
- 2021Diagnosis and management of X-linked hypophosphatemia in children and adolescent in the Gulf Cooperation Council countries.Archives of osteoporosisPubMed ↗
- 2020Mutation of SGK3, a Novel Regulator of Renal Phosphate Transport, Causes Autosomal Dominant Hypophosphatemic Rickets.The Journal of clinical endocrinology and metabolismPubMed ↗
- 2019Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.BonePubMed ↗
- 2018Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.PloS onePubMed ↗
- 2017Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.Clinical endocrinologyPubMed ↗