abnormal eye electrophysiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram) (Mammalian Phenotype Ontology, MP_0005551)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005551
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Genes

170 gene mutations causing the abnormal eye electrophysiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACTA2 actin, alpha 2, smooth muscle, aorta
ADGRV1 adhesion G protein-coupled receptor V1
AGTPBP1 ATP/GTP binding protein 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ALMS1 Alstrom syndrome protein 1
APOE apolipoprotein E
AQP4 aquaporin 4
ARNTL aryl hydrocarbon receptor nuclear translocator-like
ASIC2 acid sensing (proton gated) ion channel 2
ASIC3 acid sensing (proton gated) ion channel 3
ATOH7 atonal homolog 7 (Drosophila)
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
BARHL2 BarH-like homeobox 2
BBS1 Bardet-Biedl syndrome 1
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BEST1 bestrophin 1
BHLHE23 basic helix-loop-helix family, member e23
BMP4 bone morphogenetic protein 4
C1QTNF5 C1q and tumor necrosis factor related protein 5
C3 complement component 3
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
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CCDC66 coiled-coil domain containing 66
CCND1 cyclin D1
CDH23 cadherin-related 23
CDHR1 cadherin-related family member 1
CDKL5 cyclin-dependent kinase-like 5
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CEP290 centrosomal protein 290kDa
CERKL ceramide kinase-like
CHM choroideremia (Rab escort protein 1)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CLCN2 chloride channel, voltage-sensitive 2
CLCN3 chloride channel, voltage-sensitive 3
CLDN11 claudin 11
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CNTNAP1 contactin associated protein 1
CPLX3 complexin 3
CPLX4 complexin 4
CRHR1 corticotropin releasing hormone receptor 1
CRX cone-rod homeobox
CSF1 colony stimulating factor 1 (macrophage)
CTNS cystinosin, lysosomal cystine transporter
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DFNB31 deafness, autosomal recessive 31
DMD dystrophin
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNASE2B deoxyribonuclease II beta
DRD1 dopamine receptor D1
DRD4 dopamine receptor D4
DSCAM Down syndrome cell adhesion molecule
E2F1 E2F transcription factor 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
FASLG Fas ligand (TNF superfamily, member 6)
FOS FBJ murine osteosarcoma viral oncogene homolog
FSCN2 fascin actin-bundling protein 2, retinal
FZD4 frizzled class receptor 4
GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1
GJA10 gap junction protein, alpha 10, 62kDa
GJA8 gap junction protein, alpha 8, 50kDa
GLRA1 glycine receptor, alpha 1
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
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
GPR179 G protein-coupled receptor 179
GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A
GRK1 G protein-coupled receptor kinase 1
GRM6 glutamate receptor, metabotropic 6
GUCA1A guanylate cyclase activator 1A (retina)
GUCA1B guanylate cyclase activator 1B (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUCY2F guanylate cyclase 2F, retinal
HAPLN2 hyaluronan and proteoglycan link protein 2
IRX6 iroquois homeobox 6
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
LAMA1 laminin, alpha 1
LAMB2 laminin, beta 2 (laminin S)
LARGE like-glycosyltransferase
LCA5 Leber congenital amaurosis 5
LEPR leptin receptor
LPCAT1 lysophosphatidylcholine acyltransferase 1
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
MPP4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MYO6 myosin VI
NAGLU N-acetylglucosaminidase, alpha
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
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
NYX nyctalopin
OAT ornithine aminotransferase
OPA1 optic atrophy 1 (autosomal dominant)
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
OTX2 orthodenticle homeobox 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
PLCB4 phospholipase C, beta 4
PLIN2 perilipin 2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POU4F2 POU class 4 homeobox 2
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPH2 peripherin 2 (retinal degeneration, slow)
RBP1 retinol binding protein 1, cellular
RBP3 retinol binding protein 3, interstitial
RBP4 retinol binding protein 4, plasma
RCVRN recoverin
RD3 retinal degeneration 3
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RDH13 retinol dehydrogenase 13 (all-trans/9-cis)
RDH5 retinol dehydrogenase 5 (11-cis/9-cis)
RELN reelin
RGPD1 RANBP2-like and GRIP domain containing 1
RGR retinal G protein coupled receptor
RGS11 regulator of G-protein signaling 11
RGS7 regulator of G-protein signaling 7
RGS9 regulator of G-protein signaling 9
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)
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC16A8 solute carrier family 16 (monocarboxylate transporter), member 8
SLC4A3 solute carrier family 4 (anion exchanger), member 3
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SOD1 superoxide dismutase 1, soluble
SSTR1 somatostatin receptor 1
STRA6 stimulated by retinoic acid 6
SV2B synaptic vesicle glycoprotein 2B
TENM2 teneurin transmembrane protein 2
THRB thyroid hormone receptor, beta
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TSHR thyroid stimulating hormone receptor
TTPA tocopherol (alpha) transfer protein
TULP1 tubby like protein 1
UNC119 unc-119 homolog (C. elegans)
UNC13B unc-13 homolog B (C. elegans)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VSX1 visual system homeobox 1