Situs inversus totalis
ORPHA:101063Morphological anomalyAutosomal dominant, Autosomal recessive, Not applicable
Ассоциированные гены10
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| ANKS3 | ankyrin repeat and sterile alpha motif domain containing 3 | Disease-causing germline mutation(s) in | gene with protein product | 617310 |
| NME7 | NME/NM23 family member 7 | Disease-causing germline mutation(s) in | gene with protein product | 613465 |
| CITED2 | Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 | Major susceptibility factor in | gene with protein product | 602937 |
| NODAL | nodal growth differentiation factor | Disease-causing germline mutation(s) in | gene with protein product | 601265 |
| CFAP53 | cilia and flagella associated protein 53 | Disease-causing germline mutation(s) in | gene with protein product | 614759 |
| CFAP52 | cilia and flagella associated protein 52 | Disease-causing germline mutation(s) in | gene with protein product | 609804 |
| MMP21 | matrix metallopeptidase 21 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 608416 |
| PKD1L1 | polycystin 1 like 1, transient receptor potential channel interacting | Disease-causing germline mutation(s) in | gene with protein product | 609721 |
| DNAH9 | dynein axonemal heavy chain 9 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603330 |
| CIROP | ciliated left-right organizer metallopeptidase | Disease-causing germline mutation(s) in | gene with protein product | 619703 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)