abnormal rod electrophysiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of dark adapted vision mediated by the rods (Mammalian Phenotype Ontology, MP_0004021)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004021
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Genes

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

Symbol Name
ACTA2 actin, alpha 2, smooth muscle, aorta
AGTPBP1 ATP/GTP binding protein 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
ASIC3 acid sensing (proton gated) ion channel 3
ATOH7 atonal homolog 7 (Drosophila)
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
BBS1 Bardet-Biedl syndrome 1
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
CHM choroideremia (Rab escort protein 1)
CLCN2 chloride channel, voltage-sensitive 2
CNGB1 cyclic nucleotide gated channel beta 1
CPLX4 complexin 4
CRX cone-rod homeobox
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DFNB31 deafness, autosomal recessive 31
EGFLAM EGF-like, fibronectin type III and laminin G domains
ELOVL4 ELOVL fatty acid elongase 4
ERC2 ELKS/RAB6-interacting/CAST family member 2
FSCN2 fascin actin-bundling protein 2, retinal
GABRR1 gamma-aminobutyric acid (GABA) A receptor, rho 1
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
GPR179 G protein-coupled receptor 179
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
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
MFRP membrane frizzled-related protein
MITF microphthalmia-associated transcription factor
MPP4 membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)
NAGLU N-acetylglucosaminidase, alpha
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
OTX2 orthodenticle homeobox 2
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PEX1 peroxisomal biogenesis factor 1
PLCB4 phospholipase C, beta 4
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPH2 peripherin 2 (retinal degeneration, slow)
RDH13 retinol dehydrogenase 13 (all-trans/9-cis)
RELN reelin
RGPD1 RANBP2-like and GRIP domain containing 1
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
SAG S-antigen; retina and pineal gland (arrestin)
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
STRA6 stimulated by retinoic acid 6
SV2B synaptic vesicle glycoprotein 2B
TRPM1 transient receptor potential cation channel, subfamily M, member 1
TULP1 tubby like protein 1
UNC13B unc-13 homolog B (C. elegans)