abnormal photoreceptor outer segment morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the photoreceptor region that is rich in the visual pigment rhodopsin (Mammalian Phenotype Ontology, MP_0003729)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003729
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Genes

84 gene mutations causing the abnormal photoreceptor outer segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
AGTPBP1 ATP/GTP binding protein 1
AHI1 Abelson helper integration site 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALCAM activated leukocyte cell adhesion molecule
ARL3 ADP-ribosylation factor-like 3
ARL6 ADP-ribosylation factor-like 6
ASIC3 acid sensing (proton gated) ion channel 3
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATXN7 ataxin 7
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
C1QTNF5 C1q and tumor necrosis factor related protein 5
CABP4 calcium binding protein 4
CCDC66 coiled-coil domain containing 66
CEP290 centrosomal protein 290kDa
CFH complement factor H
CHM choroideremia (Rab escort protein 1)
CLCN2 chloride channel, voltage-sensitive 2
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
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
CRX cone-rod homeobox
DFNB31 deafness, autosomal recessive 31
ELOVL4 ELOVL fatty acid elongase 4
FSCN2 fascin actin-bundling protein 2, retinal
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
GRK1 G protein-coupled receptor kinase 1
GUCA1A guanylate cyclase activator 1A (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
LAMB2 laminin, beta 2 (laminin S)
LCA5 Leber congenital amaurosis 5
LDLR low density lipoprotein receptor
LMO7 LIM domain 7
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MDM1 Mdm1 nuclear protein homolog (mouse)
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MITF microphthalmia-associated transcription factor
NAGLU N-acetylglucosaminidase, alpha
NDP Norrie disease (pseudoglioma)
NPHP4 nephronophthisis 4
NR2E1 nuclear receptor subfamily 2, group E, member 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NXNL2 nucleoredoxin-like 2
OAT ornithine aminotransferase
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
PANK2 pantothenate kinase 2
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PEX1 peroxisomal biogenesis factor 1
PFDN5 prefoldin subunit 5
PROM1 prominin 1
PRPH2 peripherin 2 (retinal degeneration, slow)
RBP1 retinol binding protein 1, cellular
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RHO rhodopsin
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP1L1 retinitis pigmentosa 1-like 1
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RS1 retinoschisin 1
SAG S-antigen; retina and pineal gland (arrestin)
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
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
USH2A Usher syndrome 2A (autosomal recessive, mild)