Autosomal thrombocytopenia with normal platelets
ORPHA:168629Etiological subtypeAutosomal dominant, Autosomal recessive
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| IKZF5 | IKAROS family zinc finger 5 | Disease-causing germline mutation(s) in | gene with protein product | 606238 |
| ETV6 | ETS variant transcription factor 6 | Disease-causing germline mutation(s) in | gene with protein product | 600618 |
| MASTL | microtubule associated serine/threonine kinase like | Disease-causing germline mutation(s) in | gene with protein product | 608221 |
| CYCS | cytochrome c, somatic | Disease-causing germline mutation(s) in | gene with protein product | 123970 |
| ANKRD26 | ankyrin repeat domain 26 | Disease-causing germline mutation(s) in | gene with protein product | 610855 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)