retinal degeneration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001326
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Genes

80 gene mutations causing the retinal degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGTPBP1 ATP/GTP binding protein 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIPL1 aryl hydrocarbon receptor interacting protein-like 1
AIRE autoimmune regulator
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
APOE apolipoprotein E
ASIC2 acid sensing (proton gated) ion channel 2
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
BBIP1 BBSome interacting protein 1
BBS1 Bardet-Biedl syndrome 1
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
C1QTNF5 C1q and tumor necrosis factor related protein 5
CCL13 chemokine (C-C motif) ligand 13
CCR2 chemokine (C-C motif) receptor 2
CDHR1 cadherin-related family member 1
CEP290 centrosomal protein 290kDa
CHSY1 chondroitin sulfate synthase 1
CLCN2 chloride channel, voltage-sensitive 2
CLCN3 chloride channel, voltage-sensitive 3
CLCN7 chloride channel, voltage-sensitive 7
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CX3CR1 chemokine (C-X3-C motif) receptor 1
DFNB31 deafness, autosomal recessive 31
ERCC6 excision repair cross-complementation group 6
FSCN2 fascin actin-bundling protein 2, retinal
GNAT1 guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1
GNGT1 guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
LPCAT1 lysophosphatidylcholine acyltransferase 1
LRP5 low density lipoprotein receptor-related protein 5
MCOLN1 mucolipin 1
MDM1 Mdm1 nuclear protein homolog (mouse)
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
NPHP1 nephronophthisis 1 (juvenile)
NR2E1 nuclear receptor subfamily 2, group E, member 1
NR2E3 nuclear receptor subfamily 2, group E, member 3
OAT ornithine aminotransferase
PANK2 pantothenate kinase 2
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDGFB platelet-derived growth factor beta polypeptide
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
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)
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
ROCK2 Rho-associated, coiled-coil containing protein kinase 2
ROM1 retinal outer segment membrane protein 1
RORB RAR-related orphan receptor B
RP1 retinitis pigmentosa 1 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RRAS2 related RAS viral (r-ras) oncogene homolog 2
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SMOC1 SPARC related modular calcium binding 1
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
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)
USH1C Usher syndrome 1C (autosomal recessive, severe)