Complete congenital stationary night blindness, Schubert-Bornschein type
ORPHA:714079Clinical subtype
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| GRM6 | glutamate metabotropic receptor 6 | Disease-causing germline mutation(s) in | gene with protein product | 604096 |
| TRPM1 | transient receptor potential cation channel subfamily M member 1 | Disease-causing germline mutation(s) in | gene with protein product | 603576 |
| GPR179 | G protein-coupled receptor 179 | Disease-causing germline mutation(s) in | gene with protein product | 614515 |
| LRIT3 | leucine rich repeat, Ig-like and transmembrane domains 3 | Disease-causing germline mutation(s) in | gene with protein product | 615004 |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)