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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 2:225,645,539...225,783,288
Ensembl chr 2:225,645,568...225,783,287
JBrowse link
G Best1 bestrophin 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 1:226,033,146...226,049,893
Ensembl chr 1:226,030,875...226,049,929
JBrowse link
G Cdh23 cadherin-related 23 ISO RGD PMID:20212494 RGD:8547536 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Clrn1 clarin 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 2:149,049,925...149,088,787
Ensembl chr 2:149,049,925...149,088,787
JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr14:38,155,771...38,171,107
Ensembl chr14:38,155,759...38,171,010
JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr19:10,142,440...10,206,618
Ensembl chr19:10,142,496...10,206,681
JBrowse link
G Crx cone-rod homeobox ISO RGD PMID:23701314 RGD:8547535 NCBI chr 1:77,744,593...77,758,913
Ensembl chr 1:77,745,288...77,750,960
JBrowse link
G Guca1b guanylate cyclase activator 1B ISO RGD PMID:23701314 RGD:8547535 NCBI chr 9:15,621,083...15,629,017
Ensembl chr 9:15,621,083...15,629,017
JBrowse link
G Lrat lecithin retinol acyltransferase ISO RGD PMID:23701314 RGD:8547535 NCBI chr 2:181,896,304...181,905,366
Ensembl chr 2:181,896,305...181,905,300
JBrowse link
G Myo7a myosin VIIA ISO RGD PMID:20212494 RGD:8547536 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 8:64,797,518...64,801,587
Ensembl chr 8:64,797,518...64,800,467
JBrowse link
G Pcdh15 protocadherin related 15 ISO RGD PMID:20212494 RGD:8547536 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Pde6a phosphodiesterase 6A ISO RGD PMID:23701314 RGD:8547535 NCBI chr18:56,544,652...56,617,480
Ensembl chr18:56,544,652...56,617,480
JBrowse link
G Pde6b phosphodiesterase 6B ISO RGD PMID:23701314 RGD:8547535 NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link
G Pde6g phosphodiesterase 6G ISO RGD PMID:23701314 RGD:8547535 NCBI chr10:109,620,499...109,625,214
Ensembl chr10:109,620,980...109,622,745
JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 1:64,150,786...64,162,461
Ensembl chr 1:64,150,786...64,162,461
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO RGD PMID:23701314 RGD:8547535 NCBI chr10:63,635,239...63,658,360
Ensembl chr10:63,635,219...63,658,361
JBrowse link
G Prph2 peripherin 2 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 9:16,085,933...16,386,176 JBrowse link
G Rbp3 retinol binding protein 3 ISO RGD PMID:23701314 RGD:8547535 NCBI chr16:10,277,775...10,286,243
Ensembl chr16:10,277,775...10,286,243
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 6:102,392,828...102,405,750
Ensembl chr 6:102,392,828...102,405,750
JBrowse link
G Rho rhodopsin ISO RGD PMID:23701314 RGD:8547535 NCBI chr 4:147,832,136...147,837,298
Ensembl chr 4:147,832,136...147,837,298
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 1:141,097,789...141,111,375
Ensembl chr 1:141,097,695...141,111,400
JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO RGD PMID:23701314 RGD:8547535 NCBI chr 5:15,005,028...15,060,508
Ensembl chr 5:15,043,955...15,060,508
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 2:266,141,581...266,169,197
Ensembl chr 2:266,141,581...266,169,197
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO RGD PMID:23701314 RGD:8547535 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Sag S-antigen visual arrestin ISO RGD PMID:23701314 RGD:8547535 NCBI chr 9:94,926,901...94,972,162
Ensembl chr 9:94,928,489...94,972,027
JBrowse link
G Tulp1 TUB like protein 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr20:7,931,673...7,943,601
Ensembl chr20:7,931,674...7,943,575
JBrowse link
G Ush1c USH1 protein network component harmonin ISO RGD PMID:20212494 RGD:8547536 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
G Ush1g USH1 protein network component sans ISO RGD PMID:20212494 RGD:8547536 NCBI chr10:103,866,566...103,873,416
Ensembl chr10:103,869,377...103,873,246
JBrowse link
G Ush2a usherin ISO RGD PMID:23701314 RGD:8547535 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
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
achromatopsia 2Abca4
adrenocorticotropic hormone deficiencyRpe65
age related macular degenerationAbca4
age related macular degeneration 2Abca4
Alpers-Huttenlocher syndromeRlbp1
amyloidosisMyo7a , Pcdh15
Animal Disease ModelsPde6b
anxiety disorderUsh2a
atrial heart septal defectAbca4
atypical Gaucher's disease due to saposin C deficiencyCdh23
autism spectrum disorderUsh2a
autistic disorderPcdh15 , Rpe65 , Rpgr
autoimmune diseaseRbp3
autosomal dominant nonsyndromic deafness 11Myo7a
autosomal dominant vitreoretinochoroidopathyBest1
autosomal recessive nonsyndromic deafnessCdh23
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
Bietti crystalline corneoretinal dystrophyAbca4
blindnessAbca4 , Rpe65 , Ush2a
Bothnia retinal dystrophyRlbp1
breast ductal carcinomaLrat , Rp1
cataractUsh1c , Ush2a
celiac diseaseLrat
central core myopathyCrx
Chemical and Drug Induced Liver InjuryLrat
choroid diseasePrph2
Choroidal Dystrophy, Central Areolar 2Prph2
choroidal sclerosisPrph2
ChoroideremiaCngb1 , Prph2
Chronic PainUsh2a
Ciliary Motility DisordersRpgr
cleft lipAbca4
Coats diseaseRho
cochlear diseasePcdh15
Cognitive DysfunctionUsh2a
coloboma of optic nerveMyo7a
color blindnessNr2e3 , Pde6b
Colorectal NeoplasmsAbca4
combined saposin deficiencyCdh23
Concentric Annular Macular DystrophyAbca4 , Crx
cone dystrophyAbca4 , Guca1b , Prph2 , Rho , Rpe65 , Rpgr , Sag , Tulp1 , Ush2a
cone-rod dystrophyAbca4 , Best1 , Cnga1 , Crx , Guca1b , Lrat , Myo7a , Nr2e3 , Pde6b , Prpf8 , Prph2 , Rdh12 , Rho , Rpe65 , Rpgr , Sag , Tulp1 , Ush2a
cone-rod dystrophy 14Guca1b
cone-rod dystrophy 2Crx
cone-rod dystrophy 3Abca4
cone-rod dystrophy 6Best1
Congenital Hypomyelinating Neuropathy 2Rho
congenital nystagmusMyo7a
congenital stationary night blindnessAbca4 , Pde6a , Pde6b , Rho , Rpgr , Sag , Ush2a
congenital stationary night blindness autosomal dominant 1Rho
congenital stationary night blindness autosomal dominant 2Pde6b
cystoid macular edemaPrpf31 , Rho
DeafnessCdh23 , Myo7a , Pcdh15 , Ush1g , Ush2a
Deglutition DisordersAbca4
Developmental DisabilitiesNr2e3 , Pcdh15 , Ush2a
diabetes mellitusCdh23
distal arthrogryposisUsh2a
Doyne honeycomb retinal dystrophyPrph2
DysarthriaAbca4 , Tulp1
enhanced S-cone syndromeNr2e3 , Prph2
esophageal atresiaRpgr
Experimental Autoimmune UveitisRpe65
Experimental Diabetes MellitusRpe65
Experimental Liver CirrhosisLrat
exudative vitreoretinopathyAbca4 , Prpf8
eye diseaseAbca4 , Nr2e3 , Pcdh15 , Prpf8 , Rdh12 , Ush2a
Fetal Growth RetardationAbca4
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
genetic diseaseAbca4 , Cdh23 , Myo7a , Pde6a , Rp1 , Ush2a
Hearing LossAbca4 , Cdh23 , Myo7a , Pcdh15 , Rpgr , Ush1c , Ush1g , Ush2a
Hearing Loss, Noise-InducedCdh23
hemochromatosis type 5Best1
hepatocellular carcinomaLrat
Hereditary Eye DiseasesLrat , Rlbp1 , Rpe65
Hereditary Neoplastic SyndromesAbca4 , Pde6a
hereditary night blindnessSag , Ush2a
hereditary spastic paraplegia 33Abca4
High MyopiaPde6b
Hirschsprung's diseasePcdh15
human immunodeficiency virus infectious diseasePrpf8
intellectual disabilityNr2e3 , Rpe65
Iron OverloadBest1
Joubert syndromeUsh2a
Joubert syndrome 5Abca4
Joubert syndrome 9Rpe65
Krabbe diseaseCdh23
Krabbe Disease, Atypical, due to Saposin A DeficiencyCdh23
Language Development DisordersNr2e3
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 , Rpe65
Loeys-Dietz syndrome 4Ush2a
macular degenerationAbca4 , Best1 , Cdh23 , Cnga1 , Crx , Nr2e3 , Pde6b , Prph2 , Rdh12 , Rlbp1 , Rp1 , Rpgr , Ush2a
Macular Degeneration, X-Linked AtrophicRpgr
macular retinal edemaUsh1c , Ush2a
male infertilityRpgr
Mandibulofacial Dysostosis with Mental DeficiencyAbca4
metachromatic leukodystrophyCdh23
Metachromatic Leukodystrophy due to Saposin B DeficiencyCdh23
microcephalyNr2e3 , Ush2a
Muscle HypotoniaClrn1 , Ush2a
Muscle WeaknessPrph2
Neurodevelopmental DisordersCdh23 , Myo7a , Pde6a , Rpgr
Newfoundland cone-rod dystrophyRlbp1
night blindnessAbca4 , Pcdh15 , Pde6b , Rho , Rlbp1 , Rpe65 , Ush2a
nonsyndromic deafnessCdh23 , Myo7a , Pcdh15 , Ush2a
Nonsyndromic Sensorineural Hearing LossMyo7a
Oguchi disease-1Sag
ornithine carbamoyltransferase deficiencyRpgr
partial central choroid dystrophyPrph2
pathologic nystagmusAbca4 , Clrn1 , Myo7a , Nr2e3 , Ush2a
patterned macular dystrophyPrph2
patterned macular dystrophy 1Prph2
peripheral nervous system diseaseAbca4
Peters anomalyPrpf8
PhotophobiaAbca4 , Cdh23 , Pde6b , Ush2a
pituitary adenoma 5Cdh23
polycystic kidney diseaseUsh2a
Premature BirthAbca4
primary ciliary dyskinesiaRpgr
Primary DysautonomiasUsh2a
prostate cancerCnga1 , Crx , Pde6b , Prph2 , Ush2a
Pseudovaginal Perineoscrotal HypospadiasAbca4
Psychomotor AgitationAbca4
pulmonary valve stenosisMyo7a
Respiratory Tract InfectionsRpgr
retinal degenerationAbca4 , Crx , Pde6b , Prph2 , Rdh12 , Rho , Rpe65 , Rpgr
retinal detachmentAbca4 , Rpgr , Tulp1
retinal diseaseAbca4 , Cdh23 , Prph2
Retinal DysplasiaAbca4
Retinal Dystrophy, Early Onset SevereAbca4
Retinal NeovascularizationPrpf8
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
scotomaAbca4 , Cdh23 , Pde6b
sensorineural hearing lossCdh23 , Myo7a , Pcdh15 , Ush1c , Ush2a
Spastic ParaparesisNr2e3
squamous cell carcinomaRpe65
Stargardt diseaseAbca4 , Best1 , Crx , Prph2 , Tulp1
Stargardt Disease 1Abca4 , Prph2
substance-related disorderPcdh15
syndromic X-linked intellectual disability Lubs typeRpgr
TelecanthusAbca4 , Rp1
tooth agenesisAbca4
Usher syndromeCdh23 , Clrn1 , Crx , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
Usher syndrome type 1Cdh23 , Myo7a , Pcdh15 , Ush1c , Ush1g , Ush2a
Usher Syndrome Type 1BMyo7a , 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
ventricular septal defectMyo7a
vestibular diseaseMyo7a
Vision DisordersAbca4 , Best1 , Crx , Myo7a , Nr2e3 , Prpf8 , Rdh12 , Rho , Rp1 , Ush2a
visual epilepsyTulp1
Vitamin A DeficiencyLrat
vitelliform macular dystrophyBest1 , Prph2
Vitelliform Macular Dystrophy 2Best1 , Prph2
Vitelliform Macular Dystrophy 3Prph2
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: