photoreceptor outer segment degeneration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin (Mammalian Phenotype Ontology, MP_0008584)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008584
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Genes

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

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ASIC3 acid sensing (proton gated) ion channel 3
BBS12 Bardet-Biedl syndrome 12
CEP290 centrosomal protein 290kDa
CLCN3 chloride channel, voltage-sensitive 3
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
LDLR low density lipoprotein receptor
MERTK MER proto-oncogene, tyrosine kinase
NDP Norrie disease (pseudoglioma)
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PROM1 prominin 1
RPE65 retinal pigment epithelium-specific protein 65kDa
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
TUB tubby bipartite transcription factor
Funding