retinitis pigmentosa Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
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

74 genes involed in the disease retinitis pigmentosa from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
ABCA4 ATP-binding cassette, sub-family A (ABC1), member 4
ABHD12 abhydrolase domain containing 12
ADGRV1 adhesion G protein-coupled receptor V1
ARL6 ADP-ribosylation factor-like 6
BEST1 bestrophin 1
C1QTNF5 C1q and tumor necrosis factor related protein 5
C2ORF71 chromosome 2 open reading frame 71
CA4 carbonic anhydrase IV
CDH23 cadherin-related 23
CERKL ceramide kinase-like
CIB2 calcium and integrin binding family member 2
CLRN1 clarin 1
CNGA1 cyclic nucleotide gated channel alpha 1
CNGB1 cyclic nucleotide gated channel beta 1
CRB1 crumbs family member 1, photoreceptor morphogenesis associated
CRX cone-rod homeobox
DHDDS dehydrodolichyl diphosphate synthase
EYS eyes shut homolog (Drosophila)
FAM161A family with sequence similarity 161, member A
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FSCN2 fascin actin-bundling protein 2, retinal
GUCA1B guanylate cyclase activator 1B (retina)
HARS histidyl-tRNA synthetase
IDH3B isocitrate dehydrogenase 3 (NAD+) beta
IMPDH1 IMP (inosine 5'-monophosphate) dehydrogenase 1
IMPG2 interphotoreceptor matrix proteoglycan 2
KLHL7 kelch-like family member 7
LRAT lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)
MAK male germ cell-associated kinase
MERTK MER proto-oncogene, tyrosine kinase
MFRP membrane frizzled-related protein
MYO7A myosin VIIA
NEK2 NIMA-related kinase 2
NR2E3 nuclear receptor subfamily 2, group E, member 3
NRL neural retina leucine zipper
PCDH15 protocadherin-related 15
PDE6A phosphodiesterase 6A, cGMP-specific, rod, alpha
PDE6B phosphodiesterase 6B, cGMP-specific, rod, beta
PDE6G phosphodiesterase 6G, cGMP-specific, rod, gamma
PDZD7 PDZ domain containing 7
PEX7 peroxisomal biogenesis factor 7
PHYH phytanoyl-CoA 2-hydroxylase
PRCD progressive rod-cone degeneration
PROM1 prominin 1
PRPF3 pre-mRNA processing factor 3
PRPF31 pre-mRNA processing factor 31
PRPF6 pre-mRNA processing factor 6
PRPF8 pre-mRNA processing factor 8
PRPH2 peripherin 2 (retinal degeneration, slow)
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
ROM1 retinal outer segment membrane protein 1
RP1 retinitis pigmentosa 1 (autosomal dominant)
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
SAG S-antigen; retina and pineal gland (arrestin)
SEMA4A sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A14 solute carrier family 7, member 14
SNRNP200 small nuclear ribonucleoprotein 200kDa (U5)
SPATA7 spermatogenesis associated 7
TOPORS topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
TTC8 tetratricopeptide repeat domain 8
TULP1 tubby like protein 1
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
WDR19 WD repeat domain 19
ZNF513 zinc finger protein 513