Send us a Message



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

PATHWAY ONTOLOGY - ANNOTATIONS

The Pathway Ontology (PW), is currently being developed at the Rat Genome Database. For more information about this vocabulary, please see Petri et al. The rat genome database pathway portal. Database (Oxford). 2011 Apr 8;2011:bar010. Print 2011 or contact us (http://rgd.mcw.edu/contact/index.shtml).

Term:retinitis pigmentosa pathway
go back to main search page
Accession:PW:0001497 term browser browse the term
Definition:Retinitis pigmentosa (RP) is a common form of photoreceptor degeneration with a varied pattern of inheritance that includes autosomal dominant and recessive and X-linked forms. Mutations in components of the visual phototransduction and visual cycle (retinoid) metabolic pathways have been associated with RP manifestations. Other genes and potential miRNAs also play a role. A fraction of RP patients also have Usher syndrome which in addition to vision loss, also involves hearing loss.
Synonyms:exact_synonym: pericentral pigmentary retinopathy pathway

View Interactive Diagram



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 1:76,539,812...76,553,694
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...54,748,640
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...105,726,150
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...6,424,103
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

Term paths to the root
Path 1
Term Annotations click to browse term
  pathway 6096
    disease pathway 1955
      nervous system disease pathway 761
        sensory system disease pathway 87
          retinitis pigmentosa pathway 30
paths to the root