decreased retinal photoreceptor cell number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description fewer than the expected number of rods and/or cones (Mammalian Phenotype Ontology, MP_0001327)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001327
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Genes

43 gene mutations causing the decreased retinal photoreceptor cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ATOH7 atonal homolog 7 (Drosophila)
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATXN7 ataxin 7
C1QTNF5 C1q and tumor necrosis factor related protein 5
CHM choroideremia (Rab escort protein 1)
CLCN3 chloride channel, voltage-sensitive 3
CLN3 ceroid-lipofuscinosis, neuronal 3
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
FOS FBJ murine osteosarcoma viral oncogene homolog
GDF11 growth differentiation factor 11
GUCA1A guanylate cyclase activator 1A (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
MERTK MER proto-oncogene, tyrosine kinase
MITF microphthalmia-associated transcription factor
NDP Norrie disease (pseudoglioma)
NRL neural retina leucine zipper
NXNL1 nucleoredoxin-like 1
NXNL2 nucleoredoxin-like 2
OAT ornithine aminotransferase
OTX2 orthodenticle homeobox 2
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PRPH2 peripherin 2 (retinal degeneration, slow)
RD3 retinal degeneration 3
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP1L1 retinitis pigmentosa 1-like 1
RPGR retinitis pigmentosa GTPase regulator
RS1 retinoschisin 1
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
STRA6 stimulated by retinoic acid 6
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
TYR tyrosinase
VLDLR very low density lipoprotein receptor