Retinitis Pigmentosa Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. (Human Disease Ontology, DOID_10584)
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Genes

67 genes associated with the Retinitis Pigmentosa phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
AAR2 AAR2 splicing factor homolog (S. cerevisiae)
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ADCY4 adenylate cyclase 4
ARMS2 age-related maculopathy susceptibility 2
BBS1 Bardet-Biedl syndrome 1
BCL2L2 BCL2-like 2
C2ORF71 chromosome 2 open reading frame 71
CA4 carbonic anhydrase IV
CDHR1 cadherin-related family member 1
CEP290 centrosomal protein 290kDa
CERKL ceramide kinase-like
CLN3 ceroid-lipofuscinosis, neuronal 3
CNGB1 cyclic nucleotide gated channel beta 1
CNGB3 cyclic nucleotide gated channel beta 3
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
DAD1 defender against cell death 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FSCN2 fascin actin-bundling protein 2, retinal
GNB1 guanine nucleotide binding protein (G protein), beta polypeptide 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IQCB1 IQ motif containing B1
IRF9 interferon regulatory factor 9
KCNV2 potassium channel, voltage gated modifier subfamily V, member 2
KLHL7 kelch-like family member 7
LCA5 Leber congenital amaurosis 5
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MERTK MER proto-oncogene, tyrosine kinase
MMP14 matrix metallopeptidase 14 (membrane-inserted)
NHP2L1 NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
OXA1L oxidase (cytochrome c) assembly 1-like
PCDH15 protocadherin-related 15
PDC phosducin
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6C phosphodiesterase 6C, cGMP-specific, cone, alpha prime
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF4 pre-mRNA processing factor 4
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
RBP1 retinol binding protein 1, cellular
RBP3 retinol binding protein 3, interstitial
RDH12 retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
RGR retinal G protein coupled receptor
RHO rhodopsin
RLBP1 retinaldehyde binding protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
RP1L1 retinitis pigmentosa 1-like 1
RP2 retinitis pigmentosa 2 (X-linked recessive)
RP9 retinitis pigmentosa 9 (autosomal dominant)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SALL2 spalt-like transcription factor 2
SLC7A14 solute carrier family 7, member 14
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TULP1 tubby like protein 1
UNC119 unc-119 homolog (C. elegans)
USH2A Usher syndrome 2A (autosomal recessive, mild)
ZNF219 zinc finger protein 219