retinal photoreceptor degeneration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina (Mammalian Phenotype Ontology, MP_0008450)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008450
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Genes

59 gene mutations causing the retinal photoreceptor degeneration 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
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
ATXN7 ataxin 7
C1QTNF5 C1q and tumor necrosis factor related protein 5
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit
CCDC66 coiled-coil domain containing 66
CCL13 chemokine (C-C motif) ligand 13
CCR2 chemokine (C-C motif) receptor 2
CEP290 centrosomal protein 290kDa
CHM choroideremia (Rab escort protein 1)
CLCN2 chloride channel, voltage-sensitive 2
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CROCC ciliary rootlet coiled-coil, rootletin
CRX cone-rod homeobox
CTSD cathepsin D
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
ELOVL4 ELOVL fatty acid elongase 4
ERCC8 excision repair cross-complementation group 8
GJA10 gap junction protein, alpha 10, 62kDa
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GRK1 G protein-coupled receptor kinase 1
GUCA1A guanylate cyclase activator 1A (retina)
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
LRP5 low density lipoprotein receptor-related protein 5
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MFSD8 major facilitator superfamily domain containing 8
MITF microphthalmia-associated transcription factor
MYO7A myosin VIIA
NPHP4 nephronophthisis 4
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PEX1 peroxisomal biogenesis factor 1
PFDN5 prefoldin subunit 5
PROM1 prominin 1
RBP3 retinol binding protein 3, interstitial
RD3 retinal degeneration 3
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
SLC4A7 solute carrier family 4, sodium bicarbonate cotransporter, member 7
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
TUB tubby bipartite transcription factor
TULP1 tubby like protein 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
VLDLR very low density lipoprotein receptor