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RDH12 mutants [photoreceptor inner segment membrane]
Stable Identifier
R-HSA-2471705
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
photoreceptor inner segment membrane
Locations in the PathwayBrowser
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Disease (Homo sapiens)
Diseases of the neuronal system (Homo sapiens)
Diseases associated with visual transduction (Homo sapiens)
Retinoid cycle disease events (Homo sapiens)
Defective RDH12 does not reduce atRAL to atROL and causes LCA13 (Homo sapiens)
RDH12 mutants [photoreceptor inner segment membrane] (Homo sapiens)
Participants
members
RDH12 H151N [photoreceptor inner segment membrane]
(Homo sapiens)
RDH12 Q189X [photoreceptor inner segment membrane]
(Homo sapiens)
RDH12 Y226C [photoreceptor inner segment membrane]
(Homo sapiens)
RDH12 Ala269Glyfs*2 [photoreceptor inner segment membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
Leber congenital amaurosis
DOID:14791
Leber's disease, Leber's congenital amaurosis, AMAUROSIS CONGENITA OF LEBER I, Leber's disease, Leber's amaurosis (disorder)
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