disorganized photoreceptor outer segment Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin (Mammalian Phenotype Ontology, MP_0008586)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008586
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Genes

17 gene mutations causing the disorganized photoreceptor outer segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
BBS2 Bardet-Biedl syndrome 2
CFH complement factor H
CLCN2 chloride channel, voltage-sensitive 2
CLCN3 chloride channel, voltage-sensitive 3
CNGB3 cyclic nucleotide gated channel beta 3
LCA5 Leber congenital amaurosis 5
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PFDN5 prefoldin subunit 5
PRPH2 peripherin 2 (retinal degeneration, slow)
RHO rhodopsin
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
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