Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


View Ontology Report


Photoreceptor cells are susceptible to cellular stress - their degeneration and loss is a major cause of blindness. Many genes have identified for the inherited and highly heterogeneous disorders resulting and its patterns of inheritance are varied - some are autosomal dominant (adRP), others are autosomal recessive (arRP), a smaller fraction are X-linked (XLRP) and between 30 to 50% have not yet been classified. Other disorders include Bardet-Biedl syndrome (BBS), macular and age-related macula

Pathway Diagram:

Elsevier Inc. downregulated miRNA ---> upregulated target translation upregulated miRNA ---> downregulated target translation Pde6g other USH genes in RP USH1 interactome Rlbp1 Rpe65 Lrat Rbp3 Rdh12 Abca4 Cnga1 Sag Cngb1 Guca1b Pde6b Pde6a other RP genes Usher Syndromes potential RP miRNA other RP genes ---> Retinitis Pigmentosa downregulated miRNA upregulated target translation upregulated miRNA downregulated target translation potential RP miRNA ---> Retinitis Pigmentosa altered visual phototransduction pathway ---> Retinitis Pigmentosa USH1 interactome ---> Usher Syndromes Retinitis Pigmentosa <--> USH1 interactome altered retinal development altered pre-mRNA splicing altered ciliary transport Retinitis Pigmentosa altered retinoid cycle metabolic pathway altered visual phototransduction pathway Rho altered retinoid cycle metabolic pathway ---> Retinitis Pigmentosa

Genes in Pathway:

show annotations for term's descendants           Sort by:
retinitis pigmentosa pathway term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
JBrowse link
G Best1 bestrophin 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
JBrowse link
G Cdh23 cadherin-related 23 ISO RGD PMID:20212494 RGD:8547536 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Clrn1 clarin 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948
JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
JBrowse link
G Crx cone-rod homeobox ISO RGD PMID:23701314 RGD:8547535 NCBI chr 1:76,540,141...76,545,818
Ensembl chr 1:76,540,141...76,545,818
JBrowse link
G Guca1b guanylate cyclase activator 1B ISO RGD PMID:23701314 RGD:8547535 NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
JBrowse link
G Lrat lecithin retinol acyltransferase ISO RGD PMID:23701314 RGD:8547535 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
JBrowse link
G Myo7a myosin VIIA ISO RGD PMID:20212494 RGD:8547536 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
JBrowse link
G Pcdh15 protocadherin related 15 ISO RGD PMID:20212494 RGD:8547536 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
JBrowse link
G Pde6a phosphodiesterase 6A ISO RGD PMID:23701314 RGD:8547535 NCBI chr18:54,676,863...54,749,644
Ensembl chr18:54,676,863...54,748,816
JBrowse link
G Pde6b phosphodiesterase 6B ISO RGD PMID:23701314 RGD:8547535 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
JBrowse link
G Pde6g phosphodiesterase 6G ISO RGD PMID:23701314 RGD:8547535 NCBI chr10:105,721,502...105,727,204
Ensembl chr10:105,721,682...105,726,719
JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 1:65,575,887...65,587,561
Ensembl chr 1:65,575,887...65,587,873
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO RGD PMID:23701314 RGD:8547535 NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
JBrowse link
G Prph2 peripherin 2 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
JBrowse link
G Rbp3 retinol binding protein 3 ISO RGD PMID:23701314 RGD:8547535 NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
JBrowse link
G Rho rhodopsin ISO RGD PMID:23701314 RGD:8547535 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO RGD PMID:23701314 RGD:8547535 NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO RGD PMID:23701314 RGD:8547535 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Sag S-antigen visual arrestin ISO RGD PMID:23701314 RGD:8547535 NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
JBrowse link
G Tulp1 TUB like protein 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr20:6,412,170...6,424,312
Ensembl chr20:6,412,171...6,424,073
JBrowse link
G Ush1c USH1 protein network component harmonin ISO RGD PMID:20212494 RGD:8547536 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
JBrowse link
G Ush1g USH1 protein network component sans ISO RGD PMID:20212494 RGD:8547536 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590
JBrowse link
G Ush2a usherin ISO RGD PMID:23701314 RGD:8547535 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link

Additional Elements in Pathway:

(includes Gene Groups, Small Molecules, Other Pathways..etc.)
Object TypePathway ObjectPathway Object Description
Gene Groupother RP genesRP genes in processes/pathways other than phototransduction and visual cycle
Gene GroupUSH1the five genes in USH1 associated with RP
Gene Groupother USH genes in RPThe two genes in USH2 and 3 associated with RP

Pathway Gene Annotations

Disease Annotations Associated with Genes in the retinitis pigmentosa pathway
Disease TermsGene Symbols
adrenocorticotropic hormone deficiencyRpe65
age related macular degenerationAbca4
age related macular degeneration 14Abca4
age related macular degeneration 2Abca4
Alpers-Huttenlocher syndromeRlbp1
Animal Disease ModelsPde6b
anxiety disorderUsh2a
atypical Gaucher's disease due to saposin C deficiencyCdh23
Atypical Krabbe Disease due to Saposin A DeficiencyCdh23
autism spectrum disorderUsh2a
autistic disorderPcdh15 , Rpe65 , Rpgr
autoimmune diseaseRbp3
autosomal dominant nonsyndromic deafness 11Myo7a
autosomal dominant vitreoretinochoroidopathyBest1
autosomal recessive nonsyndromic deafnessCdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
autosomal recessive nonsyndromic deafness 12Cdh23
Autosomal Recessive Nonsyndromic Deafness 18Ush1c
autosomal recessive nonsyndromic deafness 18AUsh1c
autosomal recessive nonsyndromic deafness 2Myo7a
autosomal recessive nonsyndromic deafness 23Pcdh15
basal cell carcinomaRpe65
bestrophinopathyBest1 , Prph2
Bietti crystalline corneoretinal dystrophyAbca4
blindnessAbca4 , Rpe65 , Ush2a
Bloom syndromeNr2e3 , Rlbp1
Bothnia retinal dystrophyRlbp1
branchiootorenal syndromeClrn1
breast ductal carcinomaLrat , Rp1
celiac diseaseLrat
central core diseaseCrx
Chemical and Drug Induced Liver InjuryLrat
choroid diseasePrph2
Choroidal Dystrophy, Central Areolar 2Prph2
choroidal sclerosisPrph2
Chronic PainUsh2a
Ciliary Motility DisordersRpgr
cleft lipAbca4
Coats diseaseRho
cochlear diseasePcdh15
Cognitive DysfunctionUsh2a
Cohen syndromeMyo7a
colon cancerNr2e3 , Rlbp1
Colorectal NeoplasmsAbca4
combined saposin deficiencyCdh23
Concentric Annular Macular DystrophyAbca4 , Crx
cone dystrophyAbca4 , Guca1b , Prph2 , Rpgr , Sag
cone-rod dystrophyAbca4 , Best1 , Cnga1 , Crx , Lrat , Nr2e3 , Pde6b , Prph2 , Rdh12 , Rho , Rpe65 , Rpgr , Ush2a
cone-rod dystrophy 1Pde6b
cone-rod dystrophy 14Guca1b , Rho
cone-rod dystrophy 15Rpe65
cone-rod dystrophy 2Crx
cone-rod dystrophy 3Abca4
cone-rod dystrophy 6Best1
Congenital Hypomyelinating Neuropathy 2Rho
congenital nystagmusMyo7a , Rpe65
congenital stationary night blindnessAbca4 , Pde6b , Rho , Rpgr , Sag , Ush2a
congenital stationary night blindness autosomal dominant 1Rho
congenital stationary night blindness autosomal dominant 2Pde6b
DeafnessCdh23 , Myo7a , Pcdh15 , Ush1g , Ush2a
distal arthrogryposisUsh2a
Doyne honeycomb retinal dystrophyPrph2
enhanced S-cone syndromeNr2e3 , Prph2
esophageal atresiaRpgr
Experimental Autoimmune UveitisRpe65
Experimental Diabetes MellitusRpe65
Experimental Liver CirrhosisLrat
exudative vitreoretinopathyAbca4
eye diseaseNr2e3 , Rdh12
familial adenomatous polyposis 1Pde6a
familial temporal lobe epilepsy 8Best1
fundus albipunctatusPrph2 , Rho , Rlbp1
fundus dystrophyAbca4 , Best1 , Cdh23 , Clrn1 , Cnga1 , Cngb1 , Crx , Lrat , Myo7a , Nr2e3 , Pcdh15 , Pde6a , Pde6b , Pde6g , Prpf31 , Prpf8 , Prph2 , Rbp3 , Rdh12 , Rho , Rlbp1 , Rp1 , Rpe65 , Rpgr , Sag , Tulp1 , Ush1c , Ush2a
gastrointestinal stromal tumorUsh2a
genetic diseaseAbca4 , Cdh23 , Myo7a , Pcdh15 , Pde6a , Rp1 , Ush1c , Ush2a
Hearing LossCdh23 , Clrn1 , Myo7a , Pcdh15 , Rpgr , Ush1c , Ush1g , Ush2a
Hearing Loss, Noise-InducedCdh23
hemochromatosis type 5Best1
hepatocellular carcinomaLrat
Hereditary Eye DiseasesLrat , Rlbp1 , Rpe65
Hereditary Neoplastic SyndromesPde6a
hereditary night blindnessSag
High MyopiaPde6b
Hirschsprung's diseasePcdh15
human immunodeficiency virus infectious diseasePrpf8
intellectual disabilityBest1 , Myo7a , Rpe65 , Ush1c
Iron OverloadBest1
Joubert syndromeUsh2a
Joubert syndrome 5Abca4
Joubert syndrome 9Rpe65
Krabbe diseaseCdh23
Leber congenital amaurosisAbca4 , Crx , Guca1b , Lrat , Myo7a , Nr2e3 , Pde6a , Pde6b , Prpf31 , Prph2 , Rdh12 , Rpe65 , Rpgr , Tulp1 , Ush2a
Leber congenital amaurosis 1Crx , Lrat , Tulp1
Leber congenital amaurosis 13Rdh12
Leber congenital amaurosis 14Lrat
Leber congenital amaurosis 15Tulp1
Leber congenital amaurosis 2Rpe65
Leber congenital amaurosis 7Crx
Leber hereditary optic neuropathyLrat , Rdh12 , Rp1 , Rpe65
Loeys-Dietz syndrome 4Ush2a
macular degenerationAbca4 , Best1 , Cnga1 , Crx , Pde6b , Prph2 , Rdh12 , Rlbp1 , Rpgr , Ush2a
male infertilityRpgr
Mandibulofacial Dysostosis with Mental DeficiencyAbca4
Meniere's diseaseCdh23 , Myo7a , Pcdh15 , Ush1c
Mental Retardation, Autosomal Recessive 53Pde6b
metachromatic leukodystrophyCdh23
Metachromatic Leukodystrophy due to Saposin B DeficiencyCdh23
Neurodevelopmental DisordersCdh23 , Pde6a , Prpf8 , Rpgr
Newfoundland cone-rod dystrophyRlbp1
night blindnessRho , Rlbp1
nonsyndromic deafnessCdh23 , Myo7a , Pcdh15 , Ush2a
Nonsyndromic Sensorineural Hearing LossMyo7a
occult macular dystrophyRho
Oguchi disease-1Sag
Oguchi disease-2Sag
ornithine carbamoyltransferase deficiencyRpgr
parathyroid carcinomaUsh2a
partial central choroid dystrophyPrph2
patterned macular dystrophyPrph2
patterned macular dystrophy 1Prph2
Pendred syndromeMyo7a
peripheral nervous system diseaseAbca4
Peters anomalyPrpf8
pituitary adenoma 5Cdh23
primary ciliary dyskinesiaRpgr
Primary DysautonomiasUsh2a
Primary Lymphedema with MyelodysplasiaRho
progressive myoclonus epilepsy 7Ush1c
prostate cancerCnga1 , Crx , Pde6b , Prph2 , Ush2a
Respiratory Tract InfectionsRpgr
retinal degenerationAbca4 , Crx , Pde6b , Prph2 , Rdh12 , Rho , Rpe65 , Rpgr
retinal diseaseCdh23 , Prph2
Retinal Dystrophy, Early Onset SevereAbca4
retinitis pigmentosaAbca4 , Best1 , Cdh23 , Clrn1 , Cnga1 , Cngb1 , Crx , Guca1b , Lrat , Myo7a , Nr2e3 , Pcdh15 , Pde6a , Pde6b , Pde6g , Prpf31 , Prpf8 , Prph2 , Rbp3 , Rdh12 , Rho , Rlbp1 , Rp1 , Rpe65 , Rpgr , Sag , Tulp1 , Ush1c , Ush1g , Ush2a
retinitis pigmentosa 1Rp1
retinitis pigmentosa 11Prpf31
retinitis pigmentosa 13Prpf8
retinitis pigmentosa 14Prpf8 , Tulp1
retinitis pigmentosa 19Abca4
retinitis pigmentosa 20Rpe65
retinitis pigmentosa 3Rpgr
retinitis pigmentosa 37Nr2e3
retinitis pigmentosa 39Ush2a
retinitis pigmentosa 4Rho
retinitis pigmentosa 40Pde6b
retinitis pigmentosa 43Pde6a
retinitis pigmentosa 45Cngb1
retinitis pigmentosa 47Sag
retinitis pigmentosa 48Guca1b
retinitis pigmentosa 49Cnga1 , Cngb1
retinitis pigmentosa 50Best1
retinitis pigmentosa 57Pde6g
retinitis pigmentosa 6Rpgr
retinitis pigmentosa 61Clrn1
retinitis pigmentosa 66Rbp3
retinitis pigmentosa 7Prph2
retinitis pigmentosa 87Rpe65
Retinitis Pigmentosa, Late-Onset DominantPrph2
retinitis pigmentosa-deafness syndromeCdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
schizophreniaPcdh15 , Rbp3
sensorineural hearing lossCdh23 , Myo7a , Ush1c , Ush2a
squamous cell carcinomaRpe65
Stargardt diseaseAbca4 , Best1 , Crx , Prph2 , Rdh12 , Tulp1
Stargardt Disease 1Abca4 , Prph2 , Rho
Stargardt Disease 3Abca4
Stickler syndromeCdh23
substance-related disorderPcdh15
syndromic X-linked intellectual disability Lubs typeRpgr
Usher syndromeCdh23 , Clrn1 , Crx , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
Usher syndrome type 1Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
Usher Syndrome Type 1BCdh23 , Myo7a , Pcdh15 , Ush1c
Usher syndrome type 1CUsh1c
Usher syndrome type 1DCdh23 , Pcdh15
Usher syndrome type 1FPcdh15
Usher syndrome type 1GPcdh15 , Ush1g
Usher syndrome type 2Cdh23 , Myo7a , Ush1c , Ush2a
Usher syndrome type 2ACdh23 , Ush2a
Usher syndrome type 3Clrn1
Usher syndrome type 3AClrn1
Usher Syndrome, Type ID/FCdh23 , Pcdh15
uveitisRbp3 , Sag
vestibular diseaseMyo7a
Vision DisordersAbca4 , Nr2e3 , Rp1
Vitamin A DeficiencyLrat
vitelliform macular dystrophyBest1 , Prph2
Vitelliform Macular Dystrophy 2Best1 , Prph2
Vitelliform Macular Dystrophy 3Prph2
X-linked atrophic macular degenerationRpgr
X-linked chronic granulomatous diseaseRpgr
X-linked cone-rod dystrophy 1Rpgr
X-linked retinitis pigmentosa and sinorespiratory infectionsRpgr
Pathway Annotations Associated with Genes in the retinitis pigmentosa pathway
Phenotype Annotations Associated with Genes in the retinitis pigmentosa pathway

References Associated with the retinitis pigmentosa pathway:

Ontology Path Diagram:

paths to the root
paths to the root

Import into Pathway Studio: