abnormal retinal outer nuclear layer thickness Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones (Mammalian Phenotype Ontology, MP_0011997)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011997
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Genes

70 gene mutations causing the abnormal retinal outer nuclear layer thickness 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
APOE apolipoprotein E
ATOH7 atonal homolog 7 (Drosophila)
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
BBS12 Bardet-Biedl syndrome 12
C1QTNF5 C1q and tumor necrosis factor related protein 5
CABP4 calcium binding protein 4
CCDC66 coiled-coil domain containing 66
CEP290 centrosomal protein 290kDa
CHM choroideremia (Rab escort protein 1)
CLCN2 chloride channel, voltage-sensitive 2
CLCN7 chloride channel, voltage-sensitive 7
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
CX3CR1 chemokine (C-X3-C motif) receptor 1
DFNB31 deafness, autosomal recessive 31
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
E2F1 E2F transcription factor 1
ELOVL4 ELOVL fatty acid elongase 4
FKRP fukutin related protein
FOS FBJ murine osteosarcoma viral oncogene homolog
FSCN2 fascin actin-bundling protein 2, retinal
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GUCA1A guanylate cyclase activator 1A (retina)
LARGE like-glycosyltransferase
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP5 low density lipoprotein receptor-related protein 5
MAB21L1 mab-21-like 1 (C. elegans)
MDM1 Mdm1 nuclear protein homolog (mouse)
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
NAGLU N-acetylglucosaminidase, alpha
NPHP1 nephronophthisis 1 (juvenile)
NPHP4 nephronophthisis 4
NR2E1 nuclear receptor subfamily 2, group E, member 1
NXNL1 nucleoredoxin-like 1
OAT ornithine aminotransferase
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OTX2 orthodenticle homeobox 2
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PFDN5 prefoldin subunit 5
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POU4F2 POU class 4 homeobox 2
PRPH2 peripherin 2 (retinal degeneration, slow)
RBP3 retinol binding protein 3, interstitial
RD3 retinal degeneration 3
RDH13 retinol dehydrogenase 13 (all-trans/9-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
RRAS2 related RAS viral (r-ras) oncogene homolog 2
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
TSPAN12 tetraspanin 12
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
UNC119 unc-119 homolog (C. elegans)
VLDLR very low density lipoprotein receptor