abnormal cone electrophysiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of light adapted vision mediated by the cones (Mammalian Phenotype Ontology, MP_0004022)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004022
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Genes

65 gene mutations causing the abnormal cone 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
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
BBS1 Bardet-Biedl syndrome 1
BBS4 Bardet-Biedl syndrome 4
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
CCDC66 coiled-coil domain containing 66
CEP290 centrosomal protein 290kDa
CLCN2 chloride channel, voltage-sensitive 2
CNGA3 cyclic nucleotide gated channel alpha 3
CNGB3 cyclic nucleotide gated channel beta 3
CPLX3 complexin 3
CRX cone-rod homeobox
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DFNB31 deafness, autosomal recessive 31
E2F1 E2F transcription factor 1
EGFLAM EGF-like, fibronectin type III and laminin G domains
ELOVL4 ELOVL fatty acid elongase 4
FSCN2 fascin actin-bundling protein 2, retinal
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
GPR179 G protein-coupled receptor 179
GRM6 glutamate receptor, metabotropic 6
GUCA1A guanylate cyclase activator 1A (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
IRX6 iroquois homeobox 6
LCA5 Leber congenital amaurosis 5
LPCAT1 lysophosphatidylcholine acyltransferase 1
MDM1 Mdm1 nuclear protein homolog (mouse)
MERTK MER proto-oncogene, tyrosine kinase
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
NXNL1 nucleoredoxin-like 1
NXNL2 nucleoredoxin-like 2
NYX nyctalopin
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
OTX2 orthodenticle homeobox 2
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PEX1 peroxisomal biogenesis factor 1
PROM1 prominin 1
PRPH2 peripherin 2 (retinal degeneration, slow)
RELN reelin
RGS11 regulator of G-protein signaling 11
RHO rhodopsin
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
STRA6 stimulated by retinoic acid 6
THRB thyroid hormone receptor, beta
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TSHR thyroid stimulating hormone receptor
TULP1 tubby like protein 1
UNC13B unc-13 homolog B (C. elegans)
VSX1 visual system homeobox 1