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
Accession: PW:0001497
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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
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Abca4
ATP binding cassette subfamily A member 4
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RGD
PMID:23701314
RGD:8547535
NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069
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Best1
bestrophin 1
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RGD
PMID:23701314
RGD:8547535
NCBI chr 1:206,629,340...206,646,085
Ensembl chr 1:206,629,500...206,646,063
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Cdh23
cadherin-related 23
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RGD
PMID:20212494
RGD:8547536
NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
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Clrn1
clarin 1
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RGD
PMID:23701314
RGD:8547535
NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948
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Cnga1
cyclic nucleotide gated channel subunit alpha 1
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RGD
PMID:23701314
RGD:8547535
NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065
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Cngb1
cyclic nucleotide gated channel subunit beta 1
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RGD
PMID:23701314
RGD:8547535
NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173
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Crx
cone-rod homeobox
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RGD
PMID:23701314
RGD:8547535
NCBI chr 1:76,539,812...76,553,694
Ensembl chr 1:76,540,141...76,545,818
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Guca1b
guanylate cyclase activator 1B
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RGD
PMID:23701314
RGD:8547535
NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455
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Lrat
lecithin retinol acyltransferase
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RGD
PMID:23701314
RGD:8547535
NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619
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Myo7a
myosin VIIA
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RGD
PMID:20212494
RGD:8547536
NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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Nr2e3
nuclear receptor subfamily 2, group E, member 3
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RGD
PMID:23701314
RGD:8547535
NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163
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Pcdh15
protocadherin related 15
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RGD
PMID:20212494
RGD:8547536
NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
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Pde6a
phosphodiesterase 6A
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RGD
PMID:23701314
RGD:8547535
NCBI chr18:54,676,863...54,748,640
Ensembl chr18:54,676,863...54,748,816
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Pde6b
phosphodiesterase 6B
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RGD
PMID:23701314
RGD:8547535
NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450
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Pde6g
phosphodiesterase 6G
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RGD
PMID:23701314
RGD:8547535
NCBI chr10:105,721,502...105,726,150
Ensembl chr10:105,721,682...105,726,719
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Prpf31
pre-mRNA processing factor 31
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RGD
PMID:23701314
RGD:8547535
NCBI chr 1:65,575,887...65,587,561
Ensembl chr 1:65,575,887...65,587,873
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Prpf8
pre-mRNA processing factor 8
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RGD
PMID:23701314
RGD:8547535
NCBI chr10:60,331,494...60,354,606
Ensembl chr10:60,331,494...60,354,606
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Prph2
peripherin 2
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RGD
PMID:23701314
RGD:8547535
NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454
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Rbp3
retinol binding protein 3
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RGD
PMID:23701314
RGD:8547535
NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006
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Rdh12
retinol dehydrogenase 12
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RGD
PMID:23701314
RGD:8547535
NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388
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Rho
rhodopsin
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RGD
PMID:23701314
RGD:8547535
NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773
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Rlbp1
retinaldehyde binding protein 1
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RGD
PMID:23701314
RGD:8547535
NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296
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Rp1
RP1, axonemal microtubule associated
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RGD
PMID:23701314
RGD:8547535
NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363
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Rpe65
retinoid isomerohydrolase RPE65
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RGD
PMID:23701314
RGD:8547535
NCBI chr 2:248,766,497...248,798,403
Ensembl chr 2:248,766,612...248,798,403
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Rpgr
retinitis pigmentosa GTPase regulator
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RGD
PMID:23701314
RGD:8547535
NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
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Sag
S-antigen visual arrestin
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RGD
PMID:23701314
RGD:8547535
NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
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Tulp1
TUB like protein 1
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RGD
PMID:23701314
RGD:8547535
NCBI chr20:6,412,170...6,424,103
Ensembl chr20:6,412,171...6,424,073
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Ush1c
USH1 protein network component harmonin
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RGD
PMID:20212494
RGD:8547536
NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
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Ush1g
USH1 protein network component sans
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RGD
PMID:20212494
RGD:8547536
NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590
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Ush2a
usherin
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RGD
PMID:23701314
RGD:8547535
NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
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