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Juvenile nephronophthisis

ORPHA:93592Clinical subtypeAutosomal recessive

Ассоциированные гены (7)

NPHP1
nephrocystin 1
Disease-causing germline mutation(s) in
OMIM: 607100
NPHP4
nephrocystin 4
Disease-causing germline mutation(s) in
OMIM: 607215
GLIS2
GLIS family zinc finger 2
Disease-causing germline mutation(s) (loss of function) in
OMIM: 608539
WDR19
WD repeat domain 19
Disease-causing germline mutation(s) in
OMIM: 608151
ANKS6
ankyrin repeat and sterile alpha motif domain containing 6
Disease-causing germline mutation(s) in
OMIM: 615370
MAPKBP1
mitogen-activated protein kinase binding protein 1
Disease-causing germline mutation(s) (loss of function) in
OMIM: 616786
ADAMTS9
ADAM metallopeptidase with thrombospondin type 1 motif 9
Disease-causing germline mutation(s) in
OMIM: 605421

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы