Rare disease: Retinitis pigmentosa (Orphanet code 791)
Associated genes:
Name: S-phase cyclin A associated protein in the ER
Symbol: SCAPER
Synonyms: lang: en
text: Zfp291
GeneType: Name: gene with protein product
Name: intraflagellar transport 88
Symbol: IFT88
Synonyms: lang: en
text: D13S1056E
lang: en
text: MGC26259
lang: en
text: Tg737
lang: en
text: hTg737
lang: en
text: polaris homolog
GeneType: Name: gene with protein product
Name: receptor accessory protein 6
Symbol: REEP6
Synonyms: lang: en
text: DP1L1
lang: en
text: FLJ25383
lang: en
text: TB1
lang: en
text: Yip2f
lang: en
text: deleted in polyposis 1-like 1
lang: en
text: polyposis locus protein 1-like 1
GeneType: Name: gene with protein product
Name: Rho/Rac guanine nucleotide exchange factor 18
Symbol: ARHGEF18
Synonyms: lang: en
text: KIAA0521
lang: en
text: MGC15913
lang: en
text: P114-RhoGEF
lang: en
text: Rho-specific guanine nucleotide exchange factor p114
lang: en
text: p114RhoGEF
GeneType: Name: gene with protein product
Name: Bardet-Biedl syndrome 1
Symbol: BBS1
Synonyms: lang: en
text: FLJ23590
GeneType: Name: gene with protein product
Name: KIAA1549
Symbol: KIAA1549
GeneType: Name: gene with protein product
Name: Abelson helper integration site 1
Symbol: AHI1
Synonyms: lang: en
text: FLJ20069
lang: en
text: JBTS3
lang: en
text: Jouberin
lang: en
text: ORF1
GeneType: Name: gene with protein product
Name: AGBL carboxypeptidase 5
Symbol: AGBL5
Synonyms: lang: en
text: CCP5
lang: en
text: FLJ21839
lang: en
text: cytosolic carboxypeptidase 5
GeneType: Name: gene with protein product
Name: coiled-coil and C2 domain containing 2A
Symbol: CC2D2A
Synonyms: lang: en
text: JBTS9
lang: en
text: KIAA1345
lang: en
text: MKS6
lang: en
text: Meckel syndrome, type 6
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily A member 4
Symbol: ABCA4
Synonyms: lang: en
text: ARMD2
lang: en
text: CORD3
lang: en
text: FFM
lang: en
text: Stargardt disease
GeneType: Name: gene with protein product
Name: photoreceptor disc component
Symbol: PRCD
Synonyms: lang: en
text: RP36
GeneType: Name: gene with protein product
Name: pre-mRNA processing factor 3
Symbol: PRPF3
Synonyms: lang: en
text: HPRP3
lang: en
text: Prp3
lang: en
text: SNRNP90
lang: en
text: U4/U6 small nuclear ribonucleoprotein Prp3
lang: en
text: hPrp3
GeneType: Name: gene with protein product
Name: pre-mRNA processing factor 31
Symbol: PRPF31
Synonyms: lang: en
text: NY-BR-99
lang: en
text: PRP31
lang: en
text: SNRNP61
lang: en
text: U4/U6 small nuclear ribonucleoprotein Prp31
lang: en
text: hPrp31
GeneType: Name: gene with protein product
Name: pre-mRNA processing factor 8
Symbol: PRPF8
Synonyms: lang: en
text: PRPC8
lang: en
text: Prp8
lang: en
text: SNRNP220
lang: en
text: hPrp8
GeneType: Name: gene with protein product
Name: peripherin 2
Symbol: PRPH2
Synonyms: lang: en
text: CACD2
lang: en
text: TSPAN22
lang: en
text: choroidal dystrophy, central areolar 2
lang: en
text: rd2
lang: en
text: retinal peripherin
lang: en
text: tetraspanin-22
GeneType: Name: gene with protein product
Name: retinol dehydrogenase 12
Symbol: RDH12
Synonyms: lang: en
text: FLJ30273
lang: en
text: LCA13
lang: en
text: RP53
lang: en
text: SDR7C2
lang: en
text: short chain dehydrogenase/reductase family 7C, member 2
GeneType: Name: gene with protein product
Name: retinal G protein coupled receptor
Symbol: RGR
Synonyms: lang: en
text: RGR-opsin
lang: en
text: RP44
GeneType: Name: gene with protein product
Name: rhodopsin
Symbol: RHO
Synonyms: lang: en
text: CSNBAD1
lang: en
text: OPN2
lang: en
text: opsin 2, rod pigment
GeneType: Name: gene with protein product
Name: retinaldehyde binding protein 1
Symbol: RLBP1
Synonyms: lang: en
text: CRALBP
GeneType: Name: gene with protein product
Name: retinal outer segment membrane protein 1
Symbol: ROM1
Synonyms: lang: en
text: ROM
lang: en
text: TSPAN23
GeneType: Name: gene with protein product
Name: RP1 axonemal microtubule associated
Symbol: RP1
Synonyms: lang: en
text: DCDC4A
lang: en
text: ORP1
lang: en
text: doublecortin domain containing 4A
lang: en
text: oxygen-regulated protein 1
GeneType: Name: gene with protein product
Name: RP2 activator of ARL3 GTPase
Symbol: RP2
Synonyms: lang: en
text: NM23-H10
lang: en
text: NME10
lang: en
text: TBCCD2
GeneType: Name: gene with protein product
Name: RP9 pre-mRNA splicing factor
Symbol: RP9
Synonyms: lang: en
text: PAP-1
lang: en
text: Pim-1 kinase associated protein
GeneType: Name: gene with protein product
Name: retinoid isomerohydrolase RPE65
Symbol: RPE65
Synonyms: lang: en
text: BCO family, member 3
lang: en
text: BCO3
lang: en
text: LCA2
lang: en
text: all-trans-retinyl-palmitate hydrolase
lang: en
text: rd12
lang: en
text: retinol isomerase
GeneType: Name: gene with protein product
Name: retinitis pigmentosa GTPase regulator
Symbol: RPGR
Synonyms: lang: en
text: CORDX1
GeneType: Name: gene with protein product
Name: S-antigen visual arrestin
Symbol: SAG
Synonyms: lang: en
text: ARRESTIN
lang: en
text: RP47
lang: en
text: arrestin 1
lang: en
text: rod arrestin
GeneType: Name: gene with protein product
Name: Bardet-Biedl syndrome 2
Symbol: BBS2
GeneType: Name: gene with protein product
Name: bestrophin 1
Symbol: BEST1
Synonyms: lang: en
text: BEST
lang: en
text: BMD
lang: en
text: Best disease
lang: en
text: RP50
GeneType: Name: gene with protein product
Name: carbonic anhydrase 4
Symbol: CA4
Synonyms: lang: en
text: CAIV
lang: en
text: Car4
GeneType: Name: gene with protein product
Name: ceramide kinase like
Symbol: CERKL
GeneType: Name: gene with protein product
Name: tetratricopeptide repeat domain 8
Symbol: TTC8
Synonyms: lang: en
text: BBS8
lang: en
text: RP51
GeneType: Name: gene with protein product
Name: TUB like protein 1
Symbol: TULP1
Synonyms: lang: en
text: LCA15
lang: en
text: TUBL1
GeneType: Name: gene with protein product
Name: usherin
Symbol: USH2A
Synonyms: lang: en
text: RP39
GeneType: Name: gene with protein product
Name: clarin 1
Symbol: CLRN1
GeneType: Name: gene with protein product
Name: cyclic nucleotide gated channel subunit alpha 1
Symbol: CNGA1
Synonyms: lang: en
text: CNG1
lang: en
text: RCNC1
lang: en
text: RCNCa
lang: en
text: RP49
lang: en
text: cGMP-gated cation channel alpha-1
GeneType: Name: gene with protein product
Name: crumbs cell polarity complex component 1
Symbol: CRB1
Synonyms: lang: en
text: LCA8
GeneType: Name: gene with protein product
Name: cone-rod homeobox
Symbol: CRX
Synonyms: lang: en
text: CRD
lang: en
text: LCA7
lang: en
text: OTX3
lang: en
text: orthodenticle homeobox 3
GeneType: Name: gene with protein product
Name: ADP ribosylation factor like GTPase 6
Symbol: ARL6
Synonyms: lang: en
text: RP55
GeneType: Name: gene with protein product
Name: fascin actin-bundling protein 2, retinal
Symbol: FSCN2
Synonyms: lang: en
text: RFSN
lang: en
text: RP30
lang: en
text: retinal fascin
GeneType: Name: gene with protein product
Name: heparan-alpha-glucosaminide N-acetyltransferase
Symbol: HGSNAT
Synonyms: lang: en
text: FLJ32731
lang: en
text: HGNAT
GeneType: Name: gene with protein product
Name: inosine monophosphate dehydrogenase 1
Symbol: IMPDH1
Synonyms: lang: en
text: LCA11
lang: en
text: sWSS2608
GeneType: Name: gene with protein product
Name: MER proto-oncogene, tyrosine kinase
Symbol: MERTK
Synonyms: lang: en
text: RP38
lang: en
text: Tyro12
lang: en
text: c-Eyk
lang: en
text: mer
GeneType: Name: gene with protein product
Name: nuclear receptor subfamily 2 group E member 3
Symbol: NR2E3
Synonyms: lang: en
text: PNR
lang: en
text: RP37
lang: en
text: rd7
GeneType: Name: gene with protein product
Name: neural retina leucine zipper
Symbol: NRL
Synonyms: lang: en
text: D14S46E
lang: en
text: Maf-family bZIP transcription factor NRL
lang: en
text: NRL-MAF
lang: en
text: RP27
GeneType: Name: gene with protein product
Name: OFD1 centriole and centriolar satellite protein
Symbol: OFD1
Synonyms: lang: en
text: 71-7A
lang: en
text: JBTS10
lang: en
text: Joubert syndrome type 10
GeneType: Name: gene with protein product
Name: phosphodiesterase 6A
Symbol: PDE6A
Synonyms: lang: en
text: RP43
lang: en
text: Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
lang: en
text: retinitis pigmentosa type 43
GeneType: Name: gene with protein product
Name: phosphodiesterase 6B
Symbol: PDE6B
Synonyms: lang: en
text: CSNB3
lang: en
text: CSNBAD2
lang: en
text: RP40
lang: en
text: congenital stationary night blindness 3, autosomal dominant
lang: en
text: rd1
lang: en
text: rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta
GeneType: Name: gene with protein product
Name: semaphorin 4A
Symbol: SEMA4A
Synonyms: lang: en
text: CORD10
lang: en
text: FLJ12287
lang: en
text: SemB
GeneType: Name: gene with protein product
Name: cyclic nucleotide gated channel subunit beta 1
Symbol: CNGB1
Synonyms: lang: en
text: CNGB1B
lang: en
text: GAR1
lang: en
text: GARP
lang: en
text: RCNC2
lang: en
text: RCNCb
lang: en
text: RP45
lang: en
text: cyclic nucleotide-gated cation channel beta-1
lang: en
text: glutamic acid-rich protein
GeneType: Name: gene with protein product
Name: TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
Symbol: TOPORS
Synonyms: lang: en
text: LUN
lang: en
text: TP53BPL
GeneType: Name: gene with protein product
Name: prominin 1
Symbol: PROM1
Synonyms: lang: en
text: AC133
lang: en
text: AC133 antigen
lang: en
text: CD133
lang: en
text: CORD12
lang: en
text: RP41
lang: en
text: Retinitis pigmentosa 41, Cone-rod dystrophy 12
GeneType: Name: gene with protein product
Name: lecithin retinol acyltransferase
Symbol: LRAT
Synonyms: lang: en
text: LCA14
lang: en
text: phosphatidylcholine--retinol O-acyltransferase
GeneType: Name: gene with protein product
Name: eyes shut homolog
Symbol: EYS
Synonyms: lang: en
text: SPAM
lang: en
text: bA166P24.2
lang: en
text: bA307F22.3
lang: en
text: bA74E24.1
lang: en
text: dJ1018A4.2
lang: en
text: dJ303F19.1
GeneType: Name: gene with protein product
Name: isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta
Symbol: IDH3B
Synonyms: lang: en
text: RP46
GeneType: Name: gene with protein product
Name: spermatogenesis associated 7
Symbol: SPATA7
Synonyms: lang: en
text: HSD3
GeneType: Name: gene with protein product
Name: guanylate cyclase activator 1B
Symbol: GUCA1B
Synonyms: lang: en
text: GCAP-2
lang: en
text: GCAP-II
lang: en
text: GCAP2
lang: en
text: RP48
GeneType: Name: gene with protein product
Name: kelch like family member 7
Symbol: KLHL7
Synonyms: lang: en
text: KLHL6
lang: en
text: RP42
lang: en
text: SBBI26
lang: en
text: retinitis pigmentosa 42
GeneType: Name: gene with protein product
Name: small nuclear ribonucleoprotein U5 subunit 200
Symbol: SNRNP200
Synonyms: lang: en
text: Brr2
lang: en
text: HELIC2
lang: en
text: KIAA0788
lang: en
text: U5 snRNP specific protein, 200 KD
lang: en
text: U5-200KD
lang: en
text: bad response to refrigeration 2 homolog (S. cerevisiae)
GeneType: Name: gene with protein product
Name: photoreceptor cilium actin regulator
Symbol: PCARE
Synonyms: lang: en
text: FLJ34931
lang: en
text: RP54
GeneType: Name: gene with protein product
Name: phosphodiesterase 6G
Symbol: PDE6G
Synonyms: lang: en
text: RP57
GeneType: Name: gene with protein product
Name: interphotoreceptor matrix proteoglycan 2
Symbol: IMPG2
Synonyms: lang: en
text: IPM200
lang: en
text: RP56
lang: en
text: SPACRCAN
GeneType: Name: gene with protein product
Name: FAM161 centrosomal protein A
Symbol: FAM161A
Synonyms: lang: en
text: FLJ13305
GeneType: Name: gene with protein product
Name: zinc finger protein 513
Symbol: ZNF513
Synonyms: lang: en
text: FLJ32203
lang: en
text: RP58
lang: en
text: Zfp513
GeneType: Name: gene with protein product
Name: cadherin related family member 1
Symbol: CDHR1
Synonyms: lang: en
text: CORD15
lang: en
text: KIAA1775
lang: en
text: RP65
GeneType: Name: gene with protein product
Name: dehydrodolichyl diphosphate synthase subunit
Symbol: DHDDS
Synonyms: lang: en
text: DS
lang: en
text: FLJ13102
lang: en
text: HDS
lang: en
text: RP59
lang: en
text: hCIT
GeneType: Name: gene with protein product
Name: pre-mRNA processing factor 6
Symbol: PRPF6
Synonyms: lang: en
text: ANT-1
lang: en
text: Prp6
lang: en
text: RP60
lang: en
text: SNRNP102
lang: en
text: TOM
lang: en
text: U5-102K
lang: en
text: bB152O15.1
lang: en
text: hPrp6
GeneType: Name: gene with protein product
Name: male germ cell associated kinase
Symbol: MAK
Synonyms: lang: en
text: RP62
lang: en
text: dJ417M14.2
GeneType: Name: gene with protein product
Name: retinol binding protein 3
Symbol: RBP3
Synonyms: lang: en
text: D10S64
lang: en
text: D10S65
lang: en
text: D10S66
lang: en
text: IRBP
lang: en
text: RP66
lang: en
text: interphotoreceptor retinoid-binding protein
lang: en
text: interstitial retinol-binding protein 3
GeneType: Name: gene with protein product
Name: cilia and flagella associated protein 418
Symbol: CFAP418
Synonyms: lang: en
text: BBS21
lang: en
text: Bardet-Biedl syndrome 21
lang: en
text: CORD16
lang: en
text: FAP418
lang: en
text: FLJ30600
lang: en
text: MOT25
lang: en
text: MOT25.
lang: en
text: RP64
lang: en
text: SMALLTALK
lang: en
text: cone-rod dystrophy 16
GeneType: Name: gene with protein product
Name: intraflagellar transport 140
Symbol: IFT140
Synonyms: lang: en
text: KIAA0590
lang: en
text: gs114
GeneType: Name: gene with protein product
Name: zinc finger protein 408
Symbol: ZNF408
Synonyms: lang: en
text: FLJ12827
GeneType: Name: gene with protein product
Name: ADP ribosylation factor like GTPase 2 binding protein
Symbol: ARL2BP
Synonyms: lang: en
text: BART
lang: en
text: BART1
lang: en
text: binder of Arl2
GeneType: Name: gene with protein product
Name: NIMA related kinase 2
Symbol: NEK2
Synonyms: lang: en
text: HsPK 21
lang: en
text: NEK2A
lang: en
text: NLK1
lang: en
text: PPP1R111
lang: en
text: RP67
lang: en
text: protein phosphatase 1, regulatory subunit 111
GeneType: Name: gene with protein product
Name: intraflagellar transport 172
Symbol: IFT172
Synonyms: lang: en
text: BBS20
lang: en
text: NPHP17
lang: en
text: SLB
lang: en
text: osm-1
lang: en
text: wim
lang: en
text: wimple homolog
GeneType: Name: gene with protein product
Name: TUB bipartite transcription factor
Symbol: TUB
Synonyms: lang: en
text: rd5
GeneType: Name: gene with protein product
Name: kizuna centrosomal protein
Symbol: KIZ
Synonyms: lang: en
text: HT013
GeneType: Name: gene with protein product
Name: solute carrier family 7 member 14
Symbol: SLC7A14
Synonyms: lang: en
text: KIAA1613
lang: en
text: PPP1R142
lang: en
text: protein phosphatase 1, regulatory subunit 142
GeneType: Name: gene with protein product
Name: pre-mRNA splicing tri-snRNP complex factor PRPF4
Symbol: PRPF4
Synonyms: lang: en
text: HPRP4
lang: en
text: HPRP4P
lang: en
text: PRP4
lang: en
text: PRP4/STK/WD splicing factor
lang: en
text: Prp4p
lang: en
text: SNRNP60
lang: en
text: U4/U6 small nuclear ribonucleoprotein Prp4
GeneType: Name: gene with protein product
Name: RP1 like 1
Symbol: RP1L1
Synonyms: lang: en
text: DCDC4B
lang: en
text: doublecortin domain containing 4B
GeneType: Name: gene with protein product
Name: aryl hydrocarbon receptor
Symbol: AHR
Synonyms: lang: en
text: bHLHe76
GeneType: Name: gene with protein product
Name: interphotoreceptor matrix proteoglycan 1
Symbol: IMPG1
Synonyms: lang: en
text: GP147
lang: en
text: IPM150
GeneType: Name: gene with protein product
Name: isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha
Symbol: IDH3A
Synonyms: lang: en
text: H-IDH alpha
lang: en
text: NAD(H)-specific isocitrate dehydrogenase alpha subunit
lang: en
text: NAD+-specific ICDH
lang: en
text: isocitrate dehydrogenase (NAD+) alpha chain
lang: en
text: isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial
lang: en
text: isocitric dehydrogenase
GeneType: Name: gene with protein product
Name: DEAH-box helicase 38
Symbol: DHX38
Synonyms: lang: en
text: KIAA0224
lang: en
text: PRPF16
lang: en
text: Prp16
lang: en
text: hPrp16
lang: en
text: pre-mRNA processing factor 16
GeneType: Name: gene with protein product
Name: ADP ribosylation factor like GTPase 3
Symbol: ARL3
Synonyms: lang: en
text: ARFL3
GeneType: Name: gene with protein product
Name: protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
Symbol: POMGNT1
Synonyms: lang: en
text: FLJ20277
lang: en
text: LGMD2O
lang: en
text: MGAT1.2
lang: en
text: protein O-mannose beta-1,2-N-acetylglucosaminyltransferase
GeneType: Name: gene with protein product