abnormal retinal layer morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of any of the layers that make up the retina (Mammalian Phenotype Ontology, MP_0003727)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003727
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Genes

302 gene mutations causing the abnormal retinal 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
ACER1 alkaline ceramidase 1
ACTN4 actinin, alpha 4
ADRB2 adrenoceptor beta 2, surface
AGTPBP1 ATP/GTP binding protein 1
AHI1 Abelson helper integration site 1
AHR aryl hydrocarbon receptor
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALCAM activated leukocyte cell adhesion molecule
ALDH16A1 aldehyde dehydrogenase 16 family, member A1
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ALMS1 Alstrom syndrome protein 1
AP3D1 adaptor-related protein complex 3, delta 1 subunit
APAF1 apoptotic peptidase activating factor 1
APOE apolipoprotein E
ARHGAP25 Rho GTPase activating protein 25
ARHGAP35 Rho GTPase activating protein 35
ARL3 ADP-ribosylation factor-like 3
ARL6 ADP-ribosylation factor-like 6
ASIC3 acid sensing (proton gated) ion channel 3
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPA aspartoacylase
ATOH7 atonal homolog 7 (Drosophila)
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP8A1 ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATXN7 ataxin 7
B4GALNT3 beta-1,4-N-acetyl-galactosaminyl transferase 3
BARHL2 BarH-like homeobox 2
BBS1 Bardet-Biedl syndrome 1
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BCAR3 breast cancer anti-estrogen resistance 3
BCL2 B-cell CLL/lymphoma 2
BEST1 bestrophin 1
BHLHE22 basic helix-loop-helix family, member e22
BLOC1S4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino
BLOC1S5 biogenesis of lysosomal organelles complex-1, subunit 5, muted
BMP4 bone morphogenetic protein 4
BMP7 bone morphogenetic protein 7
BMPR1B bone morphogenetic protein receptor, type IB
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
CACNA2D4 calcium channel, voltage-dependent, alpha 2/delta subunit 4
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCDC66 coiled-coil domain containing 66
CCL13 chemokine (C-C motif) ligand 13
CCND1 cyclin D1
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
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
CP ceruloplasmin (ferroxidase)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRB2 crumbs family member 2
CROCC ciliary rootlet coiled-coil, rootletin
CRX cone-rod homeobox
CSNK2A1 casein kinase 2, alpha 1 polypeptide
CTNS cystinosin, lysosomal cystine transporter
CTSD cathepsin D
CX3CR1 chemokine (C-X3-C motif) receptor 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DCC DCC netrin 1 receptor
DFNB31 deafness, autosomal recessive 31
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DSCAM Down syndrome cell adhesion molecule
DSCAML1 Down syndrome cell adhesion molecule like 1
DTNBP1 dystrobrevin binding protein 1
E2F1 E2F transcription factor 1
EFEMP1 EGF containing fibulin-like extracellular matrix protein 1
EGFLAM EGF-like, fibronectin type III and laminin G domains
ELOVL4 ELOVL fatty acid elongase 4
EPAS1 endothelial PAS domain protein 1
ERC2 ELKS/RAB6-interacting/CAST family member 2
ERCC8 excision repair cross-complementation group 8
FAM134C family with sequence similarity 134, member C
FAM151B family with sequence similarity 151, member B
FASLG Fas ligand (TNF superfamily, member 6)
FAT1 FAT atypical cadherin 1
FAT3 FAT atypical cadherin 3
FBXO7 F-box protein 7
FGF10 fibroblast growth factor 10
FKRP fukutin related protein
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXF2 forkhead box F2
FOXG1 forkhead box G1
FOXN4 forkhead box N4
FSCN2 fascin actin-bundling protein 2, retinal
FST follistatin
GAS1 growth arrest-specific 1
GDF11 growth differentiation factor 11
GJA10 gap junction protein, alpha 10, 62kDa
GJD2 gap junction protein, delta 2, 36kDa
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
GNPAT glyceronephosphate O-acyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPHN gephyrin
GPR143 G protein-coupled receptor 143
GRK1 G protein-coupled receptor kinase 1
GSK3A glycogen synthase kinase 3 alpha
GUCA1A guanylate cyclase activator 1A (retina)
GUCY1A3 guanylate cyclase 1, soluble, alpha 3
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HES1 hes family bHLH transcription factor 1
HPS3 Hermansky-Pudlak syndrome 3
HPS4 Hermansky-Pudlak syndrome 4
HR hair growth associated
HS2ST1 heparan sulfate 2-O-sulfotransferase 1
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
IL6 interleukin 6
INS insulin
IRX6 iroquois homeobox 6
ITGA6 integrin, alpha 6
KDM4D lysine (K)-specific demethylase 4D
KITLG KIT ligand
KXD1 KxDL motif containing 1
L1CAM L1 cell adhesion molecule
LAMA1 laminin, alpha 1
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LCA5 Leber congenital amaurosis 5
LDLR low density lipoprotein receptor
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LHFPL2 lipoma HMGIC fusion partner-like 2
LMO7 LIM domain 7
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP5 low density lipoprotein receptor-related protein 5
LYST lysosomal trafficking regulator
MAB21L1 mab-21-like 1 (C. elegans)
MAB21L2 mab-21-like 2 (C. elegans)
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP1B microtubule-associated protein 1B
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MDM1 Mdm1 nuclear protein homolog (mouse)
MED1 mediator complex subunit 1
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)
MRPL10 mitochondrial ribosomal protein L10
MSX2 msh homeobox 2
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MYO7A myosin VIIA
NAGLU N-acetylglucosaminidase, alpha
NDP Norrie disease (pseudoglioma)
NEUROD1 neuronal differentiation 1
NGFR nerve growth factor receptor
NPHP1 nephronophthisis 1 (juvenile)
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
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
NXNL1 nucleoredoxin-like 1
NXNL2 nucleoredoxin-like 2
OAT ornithine aminotransferase
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
OPN4 opsin 4
OTX2 orthodenticle homeobox 2
PANK2 pantothenate kinase 2
PANX1 pannexin 1
PAX2 paired box 2
PAX6 paired box 6
PDCD1 programmed cell death 1
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
PDGFC platelet derived growth factor C
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PEX1 peroxisomal biogenesis factor 1
PFDN5 prefoldin subunit 5
PHACTR4 phosphatase and actin regulator 4
PIAS2 protein inhibitor of activated STAT, 2
PKNOX1 PBX/knotted 1 homeobox 1
PLXNA2 plexin A2
PLXNA4 plexin A4
PMEL premelanosome protein
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POU4F2 POU class 4 homeobox 2
PPT1 palmitoyl-protein thioesterase 1
PRIMPOL primase and polymerase (DNA-directed)
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
PRSS56 protease, serine, 56
PTF1A pancreas specific transcription factor, 1a
PTPN13 protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
PTPRF protein tyrosine phosphatase, receptor type, F
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL3 poliovirus receptor-related 3
PXDN peroxidasin
RAB23 RAB23, member RAS oncogene family
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)
RELN reelin
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
ROM1 retinal outer segment membrane protein 1
RORB RAR-related orphan receptor B
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
RPL24 ribosomal protein L24
RRAS2 related RAS viral (r-ras) oncogene homolog 2
RS1 retinoschisin 1
RTBDN retbindin
RUNDC1 RUN domain containing 1
SAG S-antigen; retina and pineal gland (arrestin)
SCRIB scribbled planar cell polarity protein
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SECISBP2 SECIS binding protein 2
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SETD4 SET domain containing 4
SETMAR SET domain and mariner transposase fusion gene
SIRT1 sirtuin 1
SIX6 SIX homeobox 6
SLC1A1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC24A5 solute carrier family 24 (sodium/potassium/calcium exchanger), member 5
SLC30A8 solute carrier family 30 (zinc transporter), member 8
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
SMOC1 SPARC related modular calcium binding 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SORT1 sortilin 1
SOX2 SRY (sex determining region Y)-box 2
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
STRA6 stimulated by retinoic acid 6
SV2B synaptic vesicle glycoprotein 2B
TBC1D32 TBC1 domain family, member 32
TCF4 transcription factor 4
TCF7L1 transcription factor 7-like 1 (T-cell specific, HMG-box)
TENM2 teneurin transmembrane protein 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
THRB thyroid hormone receptor, beta
TIMP3 TIMP metallopeptidase inhibitor 3
TLR4 toll-like receptor 4
TMEM189 transmembrane protein 189
TP53BP2 tumor protein p53 binding protein 2
TRAPPC6A trafficking protein particle complex 6A
TRIM2 tripartite motif containing 2
TSFM Ts translation elongation factor, mitochondrial
TSPAN12 tetraspanin 12
TTC8 tetratricopeptide repeat domain 8
TTPA tocopherol (alpha) transfer protein
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
TYR tyrosinase
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
UNC119 unc-119 homolog (C. elegans)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VAX2 ventral anterior homeobox 2
VLDLR very low density lipoprotein receptor
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
VSX2 visual system homeobox 2
XXYLT1 xyloside xylosyltransferase 1
YDJC YdjC homolog (bacterial)
ZNF106 zinc finger protein 106