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hyperphosphatemia
Summary
- Definition
- A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene.
- Super Class
- phosphorus metabolism disease
External Links
- Disease Ontology
- DOID:0050459
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 125 | ADH1B | alcohol dehydrogenase 1B (class I), beta polypeptide | |
| 1585 | CYP11B2 | cytochrome P450 family 11 subfamily B member 2 | |
| 1591 | CYP24A1 | cytochrome P450 family 24 subfamily A member 1 | |
| 1594 | CYP27B1 | cytochrome P450 family 27 subfamily B member 1 | |
| 2591 | GALNT3 | polypeptide N-acetylgalactosaminyltransferase 3 | |
| 5286 | PIK3C2A | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | |
| 6470 | SHMT1 | serine hydroxymethyltransferase 1 | |
| 9365 | KL | klotho | |
| 27315 | PGAP2 | post-GPI attachment to proteins 2 | |
| 55512 | SMPD3 | sphingomyelin phosphodiesterase 3 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00443 | Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha | |
| P00325 | All-trans-retinol dehydrogenase [NAD(+)] ADH1B | |
| Q14435 | Polypeptide N-acetylgalactosaminyltransferase 3 | |
| Q9UEF7 | Klotho |
