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ABCA4 mutants [photoreceptor disc membrane]
Stable Identifier
R-HSA-2466752
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
photoreceptor disc 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 ABCA4 loss of function (Homo sapiens)
Defective ABCA4 does not transport NRPE from disc membranes (Homo sapiens)
ABCA4 mutants [photoreceptor disc membrane] (Homo sapiens)
Participants
members
ABCA4 A1028V [photoreceptor disc membrane]
(Homo sapiens)
ABCA4 G1961E [photoreceptor disc membrane]
(Homo sapiens)
ABCA4 G863A [photoreceptor disc membrane]
(Homo sapiens)
ABCA4 R943Q [photoreceptor disc membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
macular degeneration
DOID:4448
Macular degeneration of retina, unspecified, Macular degeneration (disorder), macular degeneration
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