Situs ambiguus
ORPHA:157769Morphological anomalyMultigenic/multifactorialAntenatal
Ассоциированные гены11
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PKD1L1 | polycystin 1 like 1, transient receptor potential channel interacting | Disease-causing germline mutation(s) in | gene with protein product | 609721 |
| ZIC3 | Zic family zinc finger 3 | Major susceptibility factor in | gene with protein product | 300265 |
| ACVR2B | activin A receptor type 2B | Major susceptibility factor in | gene with protein product | 602730 |
| LEFTY2 | left-right determination factor 2 | Major susceptibility factor in | gene with protein product | 601877 |
| NODAL | nodal growth differentiation factor | Candidate gene tested in | gene with protein product | 601265 |
| CFAP53 | cilia and flagella associated protein 53 | Disease-causing germline mutation(s) in | gene with protein product | 614759 |
| MMP21 | matrix metallopeptidase 21 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608416 |
| NODAL | nodal growth differentiation factor | Disease-causing germline mutation(s) in | gene with protein product | 601265 |
| CIROP | ciliated left-right organizer metallopeptidase | Disease-causing germline mutation(s) in | gene with protein product | 619703 |
| DNAH9 | dynein axonemal heavy chain 9 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603330 |
| CFC1 | cryptic, EGF-CFC family member 1 | Candidate gene tested in | gene with protein product | 605194 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)