Hypomaturation amelogenesis imperfecta
ORPHA:100033Clinical subtypeAutosomal recessive, X-linked dominant
Ассоциированные гены7
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GPR68 | G protein-coupled receptor 68 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601404 |
| AMELX | amelogenin X-linked | Disease-causing germline mutation(s) in | gene with protein product | 300391 |
| KLK4 | kallikrein related peptidase 4 | Disease-causing germline mutation(s) in | gene with protein product | 603767 |
| MMP20 | matrix metallopeptidase 20 | Disease-causing germline mutation(s) in | gene with protein product | 604629 |
| WDR72 | WD repeat domain 72 | Disease-causing germline mutation(s) in | gene with protein product | 613214 |
| ODAPH | odontogenesis associated phosphoprotein | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 614829 |
| SLC24A4 | solute carrier family 24 member 4 | Disease-causing germline mutation(s) in | gene with protein product | 609840 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)