abnormal retinal photoreceptor morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of a cell specialized to detect and transduce light, including rods and cones of the retina (Mammalian Phenotype Ontology, MP_0001004)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001004
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Genes

126 gene mutations causing the abnormal retinal photoreceptor 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
ATOH7 atonal homolog 7 (Drosophila)
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATXN7 ataxin 7
BBS1 Bardet-Biedl syndrome 1
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BSN bassoon presynaptic cytomatrix protein
C1QTNF5 C1q and tumor necrosis factor related protein 5
CABP4 calcium binding protein 4
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CCDC66 coiled-coil domain containing 66
CCL13 chemokine (C-C motif) ligand 13
CCR2 chemokine (C-C motif) receptor 2
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2A cyclin-dependent kinase inhibitor 2A
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
CLN3 ceroid-lipofuscinosis, neuronal 3
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
CROCC ciliary rootlet coiled-coil, rootletin
CRX cone-rod homeobox
CTSD cathepsin D
DFNB31 deafness, autosomal recessive 31
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
EGFLAM EGF-like, fibronectin type III and laminin G domains
ELOVL4 ELOVL fatty acid elongase 4
ERC2 ELKS/RAB6-interacting/CAST family member 2
ERCC8 excision repair cross-complementation group 8
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXN4 forkhead box N4
FSCN2 fascin actin-bundling protein 2, retinal
GDF11 growth differentiation factor 11
GJA10 gap junction protein, alpha 10, 62kDa
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNAT2 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
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
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP5 low density lipoprotein receptor-related protein 5
MAN2B1 mannosidase, alpha, class 2B, member 1
MDM1 Mdm1 nuclear protein homolog (mouse)
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MFSD8 major facilitator superfamily domain containing 8
MITF microphthalmia-associated transcription factor
MPP4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)
MYO7A myosin VIIA
NAGLU N-acetylglucosaminidase, alpha
NDP Norrie disease (pseudoglioma)
NEUROD1 neuronal differentiation 1
NGFR nerve growth factor receptor
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
NXNL1 nucleoredoxin-like 1
NXNL2 nucleoredoxin-like 2
OAT ornithine aminotransferase
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
OTX2 orthodenticle homeobox 2
PANK2 pantothenate kinase 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
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
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RDH13 retinol dehydrogenase 13 (all-trans/9-cis)
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
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
SIRT1 sirtuin 1
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
STRA6 stimulated by retinoic acid 6
THRB thyroid hormone receptor, beta
TLR4 toll-like receptor 4
TTC8 tetratricopeptide repeat domain 8
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
TYR tyrosinase
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VLDLR very low density lipoprotein receptor