abnormal retinal photoreceptor layer morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the photoreceptor layer (Mammalian Phenotype Ontology, MP_0003728)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003728
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Genes

142 gene mutations causing the abnormal retinal photoreceptor layer 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
ARHGAP25 Rho GTPase activating protein 25
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
BMP4 bone morphogenetic protein 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
CENPJ centromere protein J
CEP290 centrosomal protein 290kDa
CFAP36 cilia and flagella associated protein 36
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
CX3CR1 chemokine (C-X3-C motif) receptor 1
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
FBXO7 F-box protein 7
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
PAX6 paired box 6
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
PDGFB platelet-derived growth factor beta polypeptide
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
RRAS2 related RAS viral (r-ras) oncogene homolog 2
RS1 retinoschisin 1
SAG S-antigen; retina and pineal gland (arrestin)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SIRT1 sirtuin 1
SLC35F6 solute carrier family 35, member F6
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SLC9A8 solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8
SOD2 superoxide dismutase 2, mitochondrial
STRA6 stimulated by retinoic acid 6
THRB thyroid hormone receptor, beta
TLR4 toll-like receptor 4
TMEM189 transmembrane protein 189
TP53BP2 tumor protein p53 binding protein 2
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
ZNF106 zinc finger protein 106