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RDH12 LOF variants [photoreceptor inner segment membrane]
Stable Identifier
R-HSA-2471705
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
photoreceptor inner segment membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of the neuronal system (Homo sapiens)
Diseases associated with visual transduction (Homo sapiens)
Retinoid cycle disease events (Homo sapiens)
Defective visual phototransduction due to RDH12 loss of function (Homo sapiens)
Defective RDH12 does not reduce atRAL to atROL (Homo sapiens)
RDH12 LOF variants [photoreceptor inner segment membrane] (Homo sapiens)
Participants
members
RDH12 H151N [photoreceptor inner segment membrane]
(Homo sapiens)
RDH12 Q189* [photoreceptor inner segment membrane]
(Homo sapiens)
RDH12 Y226C [photoreceptor inner segment membrane]
(Homo sapiens)
RDH12 Ala269Glyfs*2 [photoreceptor inner segment membrane]
(Homo sapiens)
RDH12 A126V [photoreceptor inner segment membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
retinal disease
DOID:5679
Retinopathy (disorder), Retinal disorder, retina disorder
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