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Rare isolated myopia

ORPHA:98619DiseaseAutosomal dominant, Autosomal recessive

Ассоциированные гены (4)

SLC39A5
solute carrier family 39 member 5
Disease-causing germline mutation(s) in
OMIM: 608730
SCO2
synthesis of cytochrome C oxidase 2
Disease-causing germline mutation(s) in
OMIM: 604272
P3H2
prolyl 3-hydroxylase 2
Disease-causing germline mutation(s) in
OMIM: 610341
LRPAP1
LDL receptor related protein associated protein 1
Disease-causing germline mutation(s) (loss of function) in
OMIM: 104225

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы