GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version
Retinitis Pigmentosa  
Disease Aliases (11)

Pigmentary retinopathies

Pigmentary retinopathy

Rp

Rp - retinitis pigmentosa

Retinitis pigmentosa

Retinopathies, pigmentary

Retinopathy, pigmentary

Rod-cone dystrophy

Tapetoretinal degeneration

Tapetoretinal degenerations

Pericentral pigmentary retinopathy

Associated Genes (83)
 

NCBI-RefSeq:  FAM161A   (FAM161 centrosomal protein A)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  AGBL5   (AGBL carboxypeptidase 5)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ZNF513   (Zinc finger protein 513)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  HGSNAT   (Heparan-alpha-glucosaminide N-acetyltransferase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CFAP418   (Cilia and flagella associated protein 418)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  FSCN2   (Fascin actin-bundling protein 2, retinal)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  GUCA1B   (Guanylate cyclase activator 1B)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IDH3A   (Isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IDH3B   (Isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IMPDH1   (Inosine monophosphate dehydrogenase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IMPG1   (Interphotoreceptor matrix proteoglycan 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  LRAT   (Lecithin retinol acyltransferase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  MAK   (Male germ cell associated kinase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ARL3   (ADP ribosylation factor like GTPase 3)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  MERTK   (MER proto-oncogene, tyrosine kinase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  NEK2   (NIMA related kinase 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  NR2E3   (Nuclear receptor subfamily 2 group E member 3)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  NRL   (Neural retina leucine zipper)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PDE6A   (Phosphodiesterase 6A)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IFT140   (Intraflagellar transport 140)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SLC7A14   (Solute carrier family 7 member 14)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  REEP6   (Receptor accessory protein 6)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IFT172   (Intraflagellar transport 172)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SNRNP200   (Small nuclear ribonucleoprotein U5 subunit 200)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PRCD   (Photoreceptor disc component)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ABCA4   (ATP binding cassette subfamily A member 4)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PCARE   (Photoreceptor cilium actin regulator)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  AHR   (Aryl hydrocarbon receptor)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PDE6B   (Phosphodiesterase 6B)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PDE6G   (Phosphodiesterase 6G)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PROM1   (Prominin 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  BBS2   (Bardet-Biedl syndrome 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RBP3   (Retinol binding protein 3)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PRPH2   (Peripherin 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RGR   (Retinal G protein coupled receptor)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RHO   (Rhodopsin)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RLBP1   (Retinaldehyde binding protein 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ROM1   (Retinal outer segment membrane protein 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RP1   (RP1 axonemal microtubule associated)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RP2   (RP2 activator of ARL3 GTPase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RP9   (RP9 pre-mRNA splicing factor)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPE65   (Retinoid isomerohydrolase RPE65)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RPGR   (Retinitis pigmentosa GTPase regulator)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SAG   (S-antigen visual arrestin)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SEMA4A   (Semaphorin 4A)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SCAPER   (S-phase cyclin A associated protein in the ER)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ARL6   (ADP ribosylation factor like GTPase 6)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CA4   (Carbonic anhydrase 4)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CDHR1   (Cadherin related family member 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PRPF31   (Pre-mRNA processing factor 31)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  KLHL7   (Kelch like family member 7)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PRPF6   (Pre-mRNA processing factor 6)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  KIZ   (Kizuna centrosomal protein)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RP1L1   (RP1 like 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ARHGEF18   (Rho/Rac guanine nucleotide exchange factor 18)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ARL2BP   (ADP ribosylation factor like GTPase 2 binding protein)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DHX38   (DEAH-box helicase 38)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PRPF8   (Pre-mRNA processing factor 8)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PRPF3   (Pre-mRNA processing factor 3)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TUB   (TUB bipartite transcription factor)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TULP1   (TUB like protein 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  USH2A   (Usherin)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CLRN1   (Clarin 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  BEST1   (Bestrophin 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  PRPF4   (Pre-mRNA processing factor 4)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IMPG2   (Interphotoreceptor matrix proteoglycan 2)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  POMGNT1   (Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-))

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  RDH12   (Retinol dehydrogenase 12)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  ZNF408   (Zinc finger protein 408)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TTC8   (Tetratricopeptide repeat domain 8)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  SPATA7   (Spermatogenesis associated 7)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  DHDDS   (Dehydrodolichyl diphosphate synthase subunit)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  IFT88   (Intraflagellar transport 88)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CNGA1   (Cyclic nucleotide gated channel subunit alpha 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CNGB1   (Cyclic nucleotide gated channel subunit beta 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  EYS   (Eyes shut homolog)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  AHI1   (Abelson helper integration site 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  TOPORS   (TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CERKL   (Ceramide kinase like)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  KIAA1549   (KIAA1549)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CRB1   (Crumbs cell polarity complex component 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  CRX   (Cone-rod homeobox)

External Links:  gnomAD browser   Ensembl   GeneCards

 

NCBI-RefSeq:  OFD1   (OFD1 centriole and centriolar satellite protein)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Retinitis pigmentosa OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations