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ONTOLOGY REPORT - ANNOTATIONS


Term:fundus dystrophy
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Accession:DOID:8501 term browser browse the term
Definition:A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Synonyms:exact_synonym: Retinal Dystrophy;   retinal dystrophies
 primary_id: MESH:D058499;   RDO:0001838
 xref: NCI:C35625
For additional species annotation, visit the Alliance of Genome Resources.


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fundus dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA4 ATP binding cassette subfamily A member 4 JBrowse link 4 123,202,720 123,333,044 RGD:9068941
G ABHD12 abhydrolase domain containing 12 JBrowse link 17 30,997,477 31,056,307 RGD:9068941
G ADGRA3 adhesion G protein-coupled receptor A3 JBrowse link 8 16,666,409 16,787,958 RGD:9068941
G ALMS1 ALMS1 centrosome and basal body associated protein JBrowse link 3 69,253,742 69,417,043 RGD:9068941
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein JBrowse link 6 19,207,013 19,215,014 RGD:9068941
G BBS1 Bardet-Biedl syndrome 1 JBrowse link 2 5,886,989 5,906,468 RGD:9068941
G BBS10 Bardet-Biedl syndrome 10 JBrowse link 5 39,557,716 39,566,350 RGD:9068941
G BBS2 Bardet-Biedl syndrome 2 JBrowse link 6 18,542,383 18,575,338 RGD:9068941
G BBS4 Bardet-Biedl syndrome 4 JBrowse link 7 60,631,913 60,693,359 RGD:9068941
G BEST1 bestrophin 1 JBrowse link 2 9,538,082 9,550,975 RGD:9068941
G C1QTNF5 C1q and TNF related 5 JBrowse link 9 46,548,175 46,550,146 RGD:9068941
G CA4 carbonic anhydrase 4 JBrowse link 12 37,962,951 37,972,443 RGD:9068941
G CABP4 calcium binding protein 4 JBrowse link 2 5,068,535 5,079,482 RGD:9068941
G CACNA1F calcium voltage-gated channel subunit alpha1 F JBrowse link X 43,250,449 43,284,458 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 14 74,267,547 74,734,623 RGD:9068941
G CDH3 cadherin 3 JBrowse link 6 18,190,971 18,236,184 RGD:9068941
G CDHR1 cadherin related family member 1 JBrowse link 14 85,429,506 85,455,823 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,858,826 15,096,969 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 5 94,384,397 94,474,337 RGD:9068941
G CERKL ceramide kinase like JBrowse link 15 87,029,237 87,159,555 RGD:9068941
G CFAP410 cilia and flagella associated protein 410 JBrowse link 13 207,196,884 207,204,741 RGD:9068941
G CHM CHM Rab escort protein JBrowse link X 68,873,882 69,066,284 RGD:9068941
G CLRN1 clarin 1 JBrowse link 13 91,104,850 91,152,397 RGD:9068941
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 JBrowse link 8 37,896,460 37,968,935 RGD:9068941
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 3 55,872,607 55,936,516 RGD:9068941
G CNGB1 cyclic nucleotide gated channel subunit beta 1 JBrowse link 6 19,752,734 19,865,830 RGD:9068941
G CNGB3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 4 50,112,927 50,263,264 RGD:9068941
G COL18A1 collagen type XVIII alpha 1 chain JBrowse link 13 207,907,835 207,984,082 RGD:9068941
G CRB1 crumbs cell polarity complex component 1 JBrowse link 10 20,137,246 20,332,539 RGD:9068941
G CRX cone-rod homeobox JBrowse link 6 53,506,410 53,509,858 RGD:9068941
G CTNNA1 catenin alpha 1 JBrowse link 2 140,682,776 140,869,828 RGD:9068941
G DRAM2 DNA damage regulated autophagy modulator 2 JBrowse link 4 109,183,389 109,205,735 RGD:9068941
G EYS eyes shut homolog JBrowse link 1 45,306,446 46,649,722 RGD:9068941
G FAM161A FAM161 centrosomal protein A JBrowse link 3 79,952,698 79,978,584 RGD:9068941
G FZD4 frizzled class receptor 4 JBrowse link 9 20,714,995 20,721,460 RGD:9068941
G GPHN gephyrin JBrowse link 7 90,345,726 90,913,625 RGD:9068941
G GUCA1A guanylate cyclase activator 1A JBrowse link 7 37,282,630 37,296,713 RGD:9068941
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 12 53,200,570 53,250,566 RGD:9068941
G IMPG2 interphotoreceptor matrix proteoglycan 2 JBrowse link 13 157,672,973 157,763,817 RGD:9068941
G IQCB1 IQ motif containing B1 JBrowse link 13 138,689,544 138,741,228 RGD:9068941
G KCNV2 potassium voltage-gated channel modifier subfamily V member 2 JBrowse link 1 219,099,858 219,113,194 RGD:9068941
G LCA5 lebercilin LCA5 JBrowse link 1 86,596,967 86,685,073 RGD:9068941
G LOC100154844 heparan-alpha-glucosaminide N-acetyltransferase JBrowse link 17 8,644,388 8,665,004 RGD:9068941
G LRAT lecithin retinol acyltransferase JBrowse link 8 74,412,226 74,428,713 RGD:9068941
G LRP2 LDL receptor related protein 2 JBrowse link 15 75,565,299 75,754,604 RGD:9068941
G LRP5 LDL receptor related protein 5 JBrowse link 2 4,533,721 4,653,997 RGD:9068941
G MERTK MER proto-oncogene, tyrosine kinase JBrowse link 3 44,349,377 44,483,400 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 9 46,550,383 46,556,305 RGD:9068941
G MFSD8 major facilitator superfamily domain containing 8 JBrowse link 8 96,925,063 96,972,390 RGD:9068941
G MYO7A myosin VIIA JBrowse link 9 11,251,187 11,337,618 RGD:9068941
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 6 70,271,296 70,307,403 RGD:9068941
G NR2E3 nuclear receptor subfamily 2 group E member 3 JBrowse link 1 169,358,662 169,373,175 RGD:9068941
G NRL neural retina leucine zipper JBrowse link 7 75,199,048 75,211,655 RGD:9068941
G OTX2 orthodenticle homeobox 2 JBrowse link 1 186,028,575 186,039,026 RGD:9068941
G PAX2 paired box 2 JBrowse link 14 111,822,334 111,914,950 RGD:9068941
G PCARE photoreceptor cilium actin regulator JBrowse link 3 110,209,100 110,220,608 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 14 95,530,168 96,388,032 RGD:9068941
G PDE6A phosphodiesterase 6A JBrowse link 2 150,926,652 150,986,050 RGD:9068941
G PDE6B phosphodiesterase 6B JBrowse link 8 80,378 111,960 RGD:9068941
G PDE6C phosphodiesterase 6C JBrowse link 14 105,010,974 105,122,628 RGD:9068941
G PHF3 PHD finger protein 3 JBrowse link 1 45,219,390 45,295,074 RGD:9068941
G PROM1 prominin 1 JBrowse link 8 11,215,659 11,331,442 RGD:9068941
G PRPF31 pre-mRNA processing factor 31 JBrowse link 6 55,995,087 56,011,507 RGD:9068941
G PRPF8 pre-mRNA processing factor 8 JBrowse link 12 47,861,041 47,895,286 RGD:9068941
G PRPH2 peripherin 2 JBrowse link 7 37,788,547 37,805,142 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 88,074,861 88,101,925 RGD:9068941
G PRSS23 serine protease 23 JBrowse link 9 20,603,676 20,623,358 RGD:9068941
G RBP3 retinol binding protein 3 JBrowse link 14 88,491,701 88,503,388 RGD:9068941
G RDH12 retinol dehydrogenase 12 JBrowse link 7 91,481,238 91,493,838 RGD:9068941
G RDH5 retinol dehydrogenase 5 JBrowse link 5 21,166,869 21,170,913 RGD:9068941
G RGR retinal G protein coupled receptor JBrowse link 14 85,485,210 85,496,393 RGD:9068941
G RLBP1 retinaldehyde binding protein 1 JBrowse link 7 54,783,965 54,800,008 RGD:9068941
G RP1 RP1 axonemal microtubule associated JBrowse link 4 76,724,604 76,730,264 RGD:9068941
G RP2 RP2 activator of ARL3 GTPase JBrowse link X 41,488,866 41,534,810 RGD:9068941
G RPE65 retinoid isomerohydrolase RPE65 JBrowse link 6 144,206,078 144,229,471 RGD:9068941
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 34,238,961 34,522,814 RGD:9068941
G RPGRIP1 RPGR interacting protein 1 JBrowse link 7 77,813,964 77,903,973 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 15,080,972 15,099,426 RGD:9068941
G SLC19A1 solute carrier family 19 member 1 JBrowse link 13 207,986,094 208,007,855 RGD:9068941
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 JBrowse link 3 46,929,066 46,960,420 RGD:9068941
G SPATA7 spermatogenesis associated 7 JBrowse link 7 110,309,414 110,368,370 RGD:9068941
G TOPORS TOP1 binding arginine/serine rich protein JBrowse link 10 33,865,967 33,878,135 RGD:9068941
G USH1C USH1 protein network component harmonin JBrowse link 2 41,593,793 41,646,777 RGD:9068941
G USH2A usherin JBrowse link 10 5,825,591 6,662,733 RGD:9068941
G VPS13B vacuolar protein sorting 13 homolog B JBrowse link 4 37,085,929 37,821,159 RGD:9068941
G WHRN whirlin JBrowse link 1 255,009,765 255,095,281 RGD:9068941
G ZDHHC24 zinc finger DHHC-type containing 24 JBrowse link 2 5,874,509 5,883,525 RGD:9068941
G ZFYVE26 zinc finger FYVE-type containing 26 JBrowse link 7 91,518,444 91,590,480 RGD:9068941
Alstrom syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ALMS1 ALMS1 centrosome and basal body associated protein JBrowse link 3 69,253,742 69,417,043 RGD:7240710
RGD:9068941
Amaurosis Hypertrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 JBrowse link 3 56,814,823 56,858,460 RGD:9068941
Bothnia retinal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RLBP1 retinaldehyde binding protein 1 JBrowse link 7 54,783,965 54,800,008 RGD:7240710
RGD:9068941
Boucher-Neuhauser syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 2 71,577,165 71,602,756 RGD:7240710
RGD:9068941
Chromosome Xp11.3 Deletion Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RP2 RP2 activator of ARL3 GTPase JBrowse link X 41,488,866 41,534,810 RGD:7240710
RGD:9068941
Cone Dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDE6C phosphodiesterase 6C JBrowse link 14 105,010,974 105,122,628 RGD:7240710
RGD:9068941
Cone Rod Dystrophy Amelogenesis Imperfecta term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 JBrowse link 3 56,814,823 56,858,460 RGD:9068941
cone-rod dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA4 ATP binding cassette subfamily A member 4 JBrowse link 4 123,202,720 123,333,044 RGD:9068941
G ABHD12 abhydrolase domain containing 12 JBrowse link 17 30,997,477 31,056,307 RGD:9068941
G ACBD5 acyl-CoA binding domain containing 5 JBrowse link 10 48,883,116 48,922,377 RGD:9068941
G BBS5 Bardet-Biedl syndrome 5 JBrowse link 15 75,850,860 75,874,950 RGD:9068941
G CABP4 calcium binding protein 4 JBrowse link 2 5,068,535 5,079,482 RGD:9068941
G CACNA1F calcium voltage-gated channel subunit alpha1 F JBrowse link X 43,250,449 43,284,458 RGD:9068941
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 5 68,805,092 68,899,397 RGD:9068941
G CDHR1 cadherin related family member 1 JBrowse link 14 85,429,506 85,455,823 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 5 94,384,397 94,474,337 RGD:9068941
G CERKL ceramide kinase like JBrowse link 15 87,029,237 87,159,555 RGD:9068941
G CFAP410 cilia and flagella associated protein 410 JBrowse link 13 207,196,884 207,204,741 RGD:9068941
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 JBrowse link 8 37,896,460 37,968,935 RGD:9068941
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 3 55,872,607 55,936,516 RGD:9068941
G CNGB3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 4 50,112,927 50,263,264 RGD:9068941
G CRB1 crumbs cell polarity complex component 1 JBrowse link 10 20,137,246 20,332,539 RGD:9068941
G CRX cone-rod homeobox JBrowse link 6 53,506,410 53,509,858 RGD:9068941
G FAM161A FAM161 centrosomal protein A JBrowse link 3 79,952,698 79,978,584 RGD:9068941
G GUCA1A guanylate cyclase activator 1A JBrowse link 7 37,282,630 37,296,713 RGD:9068941
G GUCA1B guanylate cyclase activator 1B JBrowse link 7 37,297,901 37,311,158 RGD:9068941
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 12 53,200,570 53,250,566 RGD:9068941
G MALL mal, T cell differentiation protein like JBrowse link 3 46,280,331 46,315,773 RGD:9068941
G MIR103-2 microRNA mir-103-2 JBrowse link 17 31,808,837 31,808,916 RGD:9068941
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 6 70,271,296 70,307,403 RGD:9068941
G NPHP1 nephrocystin 1 JBrowse link 3 46,316,864 46,378,279 RGD:9068941
G NR2E3 nuclear receptor subfamily 2 group E member 3 JBrowse link 1 169,358,662 169,373,175 RGD:9068941
G PANK2 pantothenate kinase 2 JBrowse link 17 31,797,604 31,844,301 RGD:9068941
G PDE6B phosphodiesterase 6B JBrowse link 8 80,378 111,960 RGD:9068941
G PRPH2 peripherin 2 JBrowse link 7 37,788,547 37,805,142 RGD:9068941
G RGR retinal G protein coupled receptor JBrowse link 14 85,485,210 85,496,393 RGD:9068941
G RHO rhodopsin JBrowse link 13 68,908,578 68,913,651 RGD:9068941
G RPE65 retinoid isomerohydrolase RPE65 JBrowse link 6 144,206,078 144,229,471 RGD:9068941
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 34,238,961 34,522,814 RGD:9068941
G SCAPER S-phase cyclin A associated protein in the ER JBrowse link 7 56,583,247 57,012,312 RGD:9068941
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 JBrowse link 3 46,929,066 46,960,420 RGD:9068941
G UNC119 unc-119 lipid binding chaperone JBrowse link 12 44,801,265 44,807,334 RGD:9068941
G USH2A usherin JBrowse link 10 5,825,591 6,662,733 RGD:9068941
cone-rod dystrophy 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SEMA4A semaphorin 4A JBrowse link 4 93,865,054 93,892,995 RGD:7240710
RGD:9068941
cone-rod dystrophy 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAX2 retina and anterior neural fold homeobox 2 JBrowse link 2 74,921,553 74,924,834 RGD:7240710
RGD:9068941
cone-rod dystrophy 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PROM1 prominin 1 JBrowse link 8 11,215,659 11,331,442 RGD:7240710
RGD:9068941
cone-rod dystrophy 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPGRIP1 RPGR interacting protein 1 JBrowse link 7 77,813,964 77,903,973 RGD:7240710
RGD:9068941
cone-rod dystrophy 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 5 68,805,092 68,899,397 RGD:9068941
G GUCA1A guanylate cyclase activator 1A JBrowse link 7 37,282,630 37,296,713 RGD:7240710
RGD:9068941
G KCNV2 potassium voltage-gated channel modifier subfamily V member 2 JBrowse link 1 219,099,858 219,113,194 RGD:9068941
G PDE6H phosphodiesterase 6H JBrowse link 5 57,555,448 57,582,324 RGD:9068941
cone-rod dystrophy 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDHR1 cadherin related family member 1 JBrowse link 14 85,429,506 85,455,823 RGD:7240710
RGD:9068941
cone-rod dystrophy 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C4H8orf37 chromosome 4 C8orf37 homolog JBrowse link 4 41,373,725 41,394,688 RGD:7240710
RGD:9068941
cone-rod dystrophy 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RAB28 RAB28, member RAS oncogene family JBrowse link 8 8,870,795 9,125,253 RGD:7240710
RGD:9068941
cone-rod dystrophy 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TTLL5 tubulin tyrosine ligase like 5 JBrowse link 7 98,822,338 99,090,076 RGD:7240710
RGD:9068941
cone-rod dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 JBrowse link 12 50,903,358 50,917,187 RGD:9068941
G CRX cone-rod homeobox JBrowse link 6 53,506,410 53,509,858 RGD:7240710
RGD:9068941
G PROM1 prominin 1 JBrowse link 8 11,215,659 11,331,442 RGD:9068941
cone-rod dystrophy 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POC1B POC1 centriolar protein B JBrowse link 5 93,132,018 93,222,523 RGD:7240710
RGD:9068941
Cone-Rod Dystrophy 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DRAM2 DNA damage regulated autophagy modulator 2 JBrowse link 4 109,183,389 109,205,735 RGD:7240710
RGD:9068941
cone-rod dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA4 ATP binding cassette subfamily A member 4 JBrowse link 4 123,202,720 123,333,044 RGD:7240710
RGD:9068941
cone-rod dystrophy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PITPNM3 PITPNM family member 3 JBrowse link 12 50,806,302 50,898,316 RGD:7240710
RGD:9068941
cone-rod dystrophy 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BEST1 bestrophin 1 JBrowse link 2 9,538,082 9,550,975 RGD:9068941
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 12 53,200,570 53,250,566 RGD:7240710
RGD:9068941
cone-rod dystrophy 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RIMS1 regulating synaptic membrane exocytosis 1 JBrowse link 1 51,785,140 52,246,456 RGD:7240710
RGD:9068941
cone-rod dystrophy 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAM9 ADAM metallopeptidase domain 9 JBrowse link 15 47,523,768 47,601,722 RGD:7240710
RGD:9068941
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP78 centrosomal protein 78 JBrowse link 1 231,081,157 231,113,065 RGD:7240710
RGD:9068941
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CEP250 centrosomal protein 250 JBrowse link 17 38,809,724 38,872,796 RGD:7240710
RGD:9068941
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G VPS13B vacuolar protein sorting 13 homolog B JBrowse link 4 37,085,929 37,821,159 RGD:9068941
fundus albipunctatus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFRP membrane frizzled-related protein JBrowse link 9 46,550,383 46,556,305 RGD:9068941
G PRPH2 peripherin 2 JBrowse link 7 37,788,547 37,805,142 RGD:7240710
RGD:9068941
G RDH5 retinol dehydrogenase 5 JBrowse link 5 21,166,869 21,170,913 RGD:7240710
RGD:9068941
G RHO rhodopsin JBrowse link 13 68,908,578 68,913,651 RGD:7240710
RGD:9068941
G RLBP1 retinaldehyde binding protein 1 JBrowse link 7 54,783,965 54,800,008 RGD:7240710
RGD:9068941
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma JBrowse link 7 64,762,863 64,789,919 RGD:9068941
RGD:7240710
isolated microphthalmia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1QTNF5 C1q and TNF related 5 JBrowse link 9 46,548,175 46,550,146 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 9 46,550,383 46,556,305 RGD:7240710
RGD:9068941
Jalili syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 JBrowse link 3 56,814,823 56,858,460 RGD:9068941
G LOC100522551 carbohydrate sulfotransferase 6 JBrowse link 6 12,166,178 12,188,165 RGD:7240710
RGD:9068941
Kearns-Sayre syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IL1A interleukin 1 alpha JBrowse link 3 43,718,320 43,731,668 RGD:9068941
G LOC110258578 interleukin-1 beta-like RGD:9068941
G PPARGC1A PPARG coactivator 1 alpha JBrowse link 8 17,841,844 18,527,953 RGD:9068941
G TFAM transcription factor A, mitochondrial JBrowse link 14 92,261,713 92,279,731 RGD:9068941
Leber congenital amaurosis 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LRAT lecithin retinol acyltransferase JBrowse link 8 74,412,226 74,428,713 RGD:7240710
RGD:9068941
Leber congenital amaurosis 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SPATA7 spermatogenesis associated 7 JBrowse link 7 110,309,414 110,368,370 RGD:7240710
RGD:9068941
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MFSD8 major facilitator superfamily domain containing 8 JBrowse link 8 96,925,063 96,972,390 RGD:7240710
RGD:9068941
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CWC27 CWC27 spliceosome associated cyclophilin JBrowse link 16 43,346,295 43,593,474 RGD:7240710
RGD:9068941
NARP syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6 ATP synthase F0 subunit 6 JBrowse link MT 9,120 9,800 RGD:9068941
Newfoundland cone-rod dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RLBP1 retinaldehyde binding protein 1 JBrowse link 7 54,783,965 54,800,008 RGD:7240710
RGD:9068941
Oliver-McFarlane syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 2 71,577,165 71,602,756 RGD:7240710
RGD:9068941
patterned macular dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTNNA1 catenin alpha 1 JBrowse link 2 140,682,776 140,869,828 RGD:9068941
G HTRA1 HtrA serine peptidase 1 JBrowse link 14 132,043,044 132,103,590 RGD:9068941
G MAPKAPK3 MAPK activated protein kinase 3 JBrowse link 13 33,097,329 33,125,820 RGD:9068941
G PRPH2 peripherin 2 JBrowse link 7 37,788,547 37,805,142 RGD:9068941
patterned macular dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPH2 peripherin 2 JBrowse link 7 37,788,547 37,805,142 RGD:7240710
RGD:9068941
patterned macular dystrophy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CTNNA1 catenin alpha 1 JBrowse link 2 140,682,776 140,869,828 RGD:7240710
RGD:9068941
patterned macular dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAPKAPK3 MAPK activated protein kinase 3 JBrowse link 13 33,097,329 33,125,820 RGD:7240710
RGD:9068941
PHARC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABHD12 abhydrolase domain containing 12 JBrowse link 17 30,997,477 31,056,307 RGD:7240710
RGD:9068941
Posterior Column Ataxia with Retinitis Pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLVCR1 FLVCR heme transporter 1 JBrowse link 9 130,543,911 130,570,486 RGD:7240710
RGD:9068941
G FLVCR2 FLVCR heme transporter 2 JBrowse link 7 98,718,319 98,772,196 RGD:9068941
Retinal Cone Dystrophy 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDE6H phosphodiesterase 6H JBrowse link 5 57,555,448 57,582,324 RGD:7240710
RGD:9068941
Retinal Cone Dystrophy 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KCNV2 potassium voltage-gated channel modifier subfamily V member 2 JBrowse link 1 219,099,858 219,113,194 RGD:7240710
RGD:9068941
Retinal Cone Dystrophy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 5 68,805,092 68,899,397 RGD:7240710
RGD:9068941
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MIR204 microRNA mir-204 JBrowse link 1 224,065,494 224,065,602 RGD:7240710
RGD:9068941
G TRPM3 transient receptor potential cation channel subfamily M member 3 JBrowse link 1 223,833,263 224,682,424 RGD:9068941
Retinal Dystrophy and Obesity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TUB TUB bipartite transcription factor JBrowse link 9 1,183,821 1,260,209 RGD:7240710
RGD:9068941
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ITM2B integral membrane protein 2B JBrowse link 11 19,349,088 19,377,931 RGD:7240710
RGD:9068941
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RCBTB1 RCC1 and BTB domain containing protein 1 JBrowse link 11 18,132,013 18,197,759 RGD:7240710
RGD:9068941
RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CFAP410 cilia and flagella associated protein 410 JBrowse link 13 207,196,884 207,204,741 RGD:7240710
RGD:9068941
Retinal Dystrophy, Early Onset Severe term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA4 ATP binding cassette subfamily A member 4 JBrowse link 4 123,202,720 123,333,044 RGD:9068941
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RBP4 retinol binding protein 4 JBrowse link 14 105,037,360 105,044,552 RGD:7240710
RGD:9068941
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPHN gephyrin JBrowse link 7 90,345,726 90,913,625 RGD:9068941
G RDH11 retinol dehydrogenase 11 JBrowse link 7 91,415,041 91,452,530 RGD:7240710
RGD:9068941
retinitis pigmentosa term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA4 ATP binding cassette subfamily A member 4 JBrowse link 4 123,202,720 123,333,044 RGD:9068941
G ABHD12 abhydrolase domain containing 12 JBrowse link 17 30,997,477 31,056,307 RGD:9068941
G ACAN aggrecan JBrowse link 7 54,449,830 54,520,606 RGD:9068941
G ACBD5 acyl-CoA binding domain containing 5 JBrowse link 10 48,883,116 48,922,377 RGD:9068941
G ADAM9 ADAM metallopeptidase domain 9 JBrowse link 15 47,523,768 47,601,722 RGD:9068941
G ADGRA3 adhesion G protein-coupled receptor A3 JBrowse link 8 16,666,409 16,787,958 RGD:9068941
G ADGRV1 adhesion G protein-coupled receptor V1 JBrowse link 2 97,703,648 98,277,847 RGD:9068941
G AGTPBP1 ATP/GTP binding protein 1 JBrowse link 10 29,440,150 29,590,457 RGD:9068941
G AHI1 Abelson helper integration site 1 JBrowse link 1 28,566,279 28,760,471 RGD:9068941
G AIFM1 apoptosis inducing factor mitochondria associated 1 JBrowse link X 106,676,596 106,708,290 RGD:9068941
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 JBrowse link 12 50,903,358 50,917,187 RGD:9068941
G ALMS1 ALMS1 centrosome and basal body associated protein JBrowse link 3 69,253,742 69,417,043 RGD:9068941
G ARL6 ADP ribosylation factor like GTPase 6 JBrowse link 13 162,509,451 162,556,675 RGD:9068941
G ATF6 activating transcription factor 6 JBrowse link 4 88,591,279 88,806,156 RGD:9068941
G BBS1 Bardet-Biedl syndrome 1 JBrowse link 2 5,886,989 5,906,468 RGD:9068941
G BBS10 Bardet-Biedl syndrome 10 JBrowse link 5 39,557,716 39,566,350 RGD:9068941
G BBS12 Bardet-Biedl syndrome 12 JBrowse link 8 101,354,891 101,435,417 RGD:9068941
G BBS2 Bardet-Biedl syndrome 2 JBrowse link 6 18,542,383 18,575,338 RGD:9068941
G BBS5 Bardet-Biedl syndrome 5 JBrowse link 15 75,850,860 75,874,950 RGD:9068941
G BBS9 Bardet-Biedl syndrome 9 JBrowse link 18 39,663,720 40,394,244 RGD:9068941
G BCAN brevican JBrowse link 4 93,432,331 93,450,895 RGD:9068941
G BEST1 bestrophin 1 JBrowse link 2 9,538,082 9,550,975 RGD:9068941
G C4H8orf37 chromosome 4 C8orf37 homolog JBrowse link 4 41,373,725 41,394,688 RGD:9068941
G CA4 carbonic anhydrase 4 JBrowse link 12 37,962,951 37,972,443 RGD:9068941
G CABP4 calcium binding protein 4 JBrowse link 2 5,068,535 5,079,482 RGD:9068941
G CACNA1F calcium voltage-gated channel subunit alpha1 F JBrowse link X 43,250,449 43,284,458 RGD:9068941
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 JBrowse link 5 68,805,092 68,899,397 RGD:9068941
G CASP7 caspase 7 JBrowse link 14 124,017,776 124,050,369 RGD:9068941
G CAT catalase JBrowse link 2 26,493,664 26,533,881 RGD:9068941
G CCDC66 coiled-coil domain containing 66 JBrowse link 13 38,438,669 38,493,212 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 14 74,267,547 74,734,623 RGD:9068941
G CDH3 cadherin 3 JBrowse link 6 18,190,971 18,236,184 RGD:9068941
G CDHR1 cadherin related family member 1 JBrowse link 14 85,429,506 85,455,823 RGD:9068941
G CEP250 centrosomal protein 250 JBrowse link 17 38,809,724 38,872,796 RGD:9068941
G CEP290 centrosomal protein 290 JBrowse link 5 94,384,397 94,474,337 RGD:9068941
G CERKL ceramide kinase like JBrowse link 15 87,029,237 87,159,555 RGD:9068941
G CFAP410 cilia and flagella associated protein 410 JBrowse link 13 207,196,884 207,204,741 RGD:9068941
G CHM CHM Rab escort protein JBrowse link X 68,873,882 69,066,284 RGD:9068941
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin JBrowse link 3 18,433,564 18,450,296 RGD:9068941
G CLRN1 clarin 1 JBrowse link 13 91,104,850 91,152,397 RGD:9068941
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 JBrowse link 8 37,896,460 37,968,935 RGD:9068941
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 JBrowse link 3 55,872,607 55,936,516 RGD:9068941
G CNGB1 cyclic nucleotide gated channel subunit beta 1 JBrowse link 6 19,752,734 19,865,830 RGD:9068941
G CNGB3 cyclic nucleotide gated channel subunit beta 3 JBrowse link 4 50,112,927 50,263,264 RGD:9068941
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 JBrowse link 3 56,814,823 56,858,460 RGD:9068941
G COL18A1 collagen type XVIII alpha 1 chain JBrowse link 13 207,907,835 207,984,082 RGD:9068941
G CRB1 crumbs cell polarity complex component 1 JBrowse link 10 20,137,246 20,332,539 RGD:9068941
G CRB2 crumbs cell polarity complex component 2 JBrowse link 1 264,277,549 264,301,731 RGD:9068941
G CRX cone-rod homeobox JBrowse link 6 53,506,410 53,509,858 RGD:9068941
G CWC27 CWC27 spliceosome associated cyclophilin JBrowse link 16 43,346,295 43,593,474 RGD:9068941
G CYGB cytoglobin JBrowse link 12 4,977,245 4,988,283 RGD:9068941
G CYP4V2 cytochrome P450, family 4, subfamily v, polypeptide 2 JBrowse link 15 47,038,078 47,068,315 RGD:9068941
G DHDDS dehydrodolichyl diphosphate synthase subunit JBrowse link 6 83,823,262 83,855,101 RGD:9068941
G DHX38 DEAH-box helicase 38 JBrowse link 6 14,998,091 15,016,380 RGD:9068941
G EDN1 endothelin 1 JBrowse link 7 8,752,018 8,758,354 RGD:9068941
G EYS eyes shut homolog JBrowse link 1 45,306,446 46,649,722 RGD:9068941
G FAM161A FAM161 centrosomal protein A JBrowse link 3 79,952,698 79,978,584 RGD:9068941
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 14 131,183,095 131,285,001 RGD:9068941
G FSCN2 fascin actin-bundling protein 2, retinal JBrowse link 12 1,300,286 1,311,562 RGD:9068941
G FTH1 ferritin heavy chain 1 JBrowse link 2 9,535,051 9,537,979 RGD:9068941
G GNAT1 G protein subunit alpha transducin 1 JBrowse link 13 32,671,377 32,678,394 RGD:9068941
G GPHN gephyrin JBrowse link 7 90,345,726 90,913,625 RGD:9068941
G GPR179 G protein-coupled receptor 179 JBrowse link 12 23,730,887 23,748,272 RGD:9068941
G GRIN2B glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 5 58,477,862 58,948,735 RGD:9068941
G GUCA1A guanylate cyclase activator 1A JBrowse link 7 37,282,630 37,296,713 RGD:9068941
G GUCA1B guanylate cyclase activator 1B JBrowse link 7 37,297,901 37,311,158 RGD:9068941
G GUCY2D guanylate cyclase 2D, retinal JBrowse link 12 53,200,570 53,250,566 RGD:9068941
G HGF hepatocyte growth factor JBrowse link 9 98,437,771 98,513,573 RGD:9068941
G HK1 hexokinase 1 JBrowse link 14 72,383,328 72,460,927 RGD:9068941
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta JBrowse link 17 32,955,061 32,960,110 RGD:9068941
G IFT140 intraflagellar transport 140 JBrowse link 3 40,309,298 40,372,139 RGD:9068941
G IMPDH1 inosine monophosphate dehydrogenase 1 JBrowse link 18 19,979,983 19,996,432 RGD:9068941
G IMPG2 interphotoreceptor matrix proteoglycan 2 JBrowse link 13 157,672,973 157,763,817 RGD:9068941
G IQCB1 IQ motif containing B1 JBrowse link 13 138,689,544 138,741,228 RGD:9068941
G ITGA4 integrin subunit alpha 4 JBrowse link 15 86,942,054 87,028,428 RGD:9068941
G ITPRID2 ITPR interacting domain containing 2 JBrowse link 15 87,326,417 87,418,092 RGD:9068941
G KIAA1549 KIAA1549 ortholog JBrowse link 18 10,676,845 10,829,487 RGD:9068941
G KL klotho JBrowse link 11 9,427,236 9,479,251 RGD:9068941
G KLB klotho beta JBrowse link 8 30,653,434 30,696,123 RGD:9068941
G KLHL7 kelch like family member 7 JBrowse link 9 91,901,876 91,971,706 RGD:9068941
G LRAT lecithin retinol acyltransferase JBrowse link 8 74,412,226 74,428,713 RGD:9068941
G MAK male germ cell associated kinase JBrowse link 7 7,482,089 7,538,373 RGD:9068941
G MALL mal, T cell differentiation protein like JBrowse link 3 46,280,331 46,315,773 RGD:9068941
G MERTK MER proto-oncogene, tyrosine kinase JBrowse link 3 44,349,377 44,483,400 RGD:9068941
G MFRP membrane frizzled-related protein JBrowse link 9 46,550,383 46,556,305 RGD:9068941
G MFSD8 major facilitator superfamily domain containing 8 JBrowse link 8 96,925,063 96,972,390 RGD:9068941
G MIR103-2 microRNA mir-103-2 JBrowse link 17 31,808,837 31,808,916 RGD:9068941
G MKS1 MKS transition zone complex subunit 1 JBrowse link 12 34,499,139 34,512,191 RGD:9068941
G MT-2B metallothionein-2A JBrowse link 6 18,645,125 18,646,034 RGD:9068941
G MYO7A myosin VIIA JBrowse link 9 11,251,187 11,337,618 RGD:9068941
G NEUROD1 neuronal differentiation 1 JBrowse link 15 87,175,629 87,179,953 RGD:9068941
G NGF nerve growth factor JBrowse link 4 105,256,691 105,307,843 RGD:9068941
G NMNAT1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 6 70,271,296 70,307,403 RGD:9068941
G NPHP1 nephrocystin 1 JBrowse link 3 46,316,864 46,378,279 RGD:9068941
G NR2E3 nuclear receptor subfamily 2 group E member 3 JBrowse link 1 169,358,662 169,373,175 RGD:9068941
G NRL neural retina leucine zipper JBrowse link 7 75,199,048 75,211,655 RGD:9068941
G OFD1 OFD1 centriole and centriolar satellite protein JBrowse link X 10,361,403 10,415,502 RGD:9068941
G PANK2 pantothenate kinase 2 JBrowse link 17 31,797,604 31,844,301 RGD:9068941
G PCARE photoreceptor cilium actin regulator JBrowse link 3 110,209,100 110,220,608 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 14 95,530,168 96,388,032 RGD:9068941
G PDE6A phosphodiesterase 6A JBrowse link 2 150,926,652 150,986,050 RGD:9068941
G PDE6B phosphodiesterase 6B JBrowse link 8 80,378 111,960 RGD:9068941
G PDE6C phosphodiesterase 6C JBrowse link 14 105,010,974 105,122,628 RGD:9068941
G PDE6G phosphodiesterase 6G JBrowse link 12 1,235,886 1,239,808 RGD:9068941
G PHF3 PHD finger protein 3 JBrowse link 1 45,219,390 45,295,074 RGD:9068941
G PHYH phytanoyl-CoA 2-hydroxylase JBrowse link 10 48,404,298 48,423,978 RGD:9068941
G PIMREG PICALM interacting mitotic regulator JBrowse link 12 50,898,493 50,903,238 RGD:9068941
G PITPNM3 PITPNM family member 3 JBrowse link 12 50,806,302 50,898,316 RGD:9068941
G POC5 POC5 centriolar protein JBrowse link 2 84,689,592 84,730,980 RGD:9068941
G PRCD photoreceptor disc component JBrowse link 12 4,966,627 4,976,694 RGD:9068941
G PRKCG protein kinase C gamma JBrowse link 6 56,213,479 56,235,683 RGD:9068941
G PROM1 prominin 1 JBrowse link 8 11,215,659 11,331,442 RGD:9068941
G PRPF3 pre-mRNA processing factor 3 JBrowse link 4 98,745,263 98,771,724 RGD:9068941
G PRPF31 pre-mRNA processing factor 31 JBrowse link 6 55,995,087 56,011,507 RGD:9068941
G PRPF6 pre-mRNA processing factor 6 JBrowse link 17 62,815,509 62,857,795 RGD:9068941
G PRPF8 pre-mRNA processing factor 8 JBrowse link 12 47,861,041 47,895,286 RGD:9068941
G PRPH2 peripherin 2 JBrowse link 7 37,788,547 37,805,142 RGD:9068941
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 88,074,861 88,101,925 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 14 99,929,590 100,021,619 RGD:9068941
G RAB28 RAB28, member RAS oncogene family JBrowse link 8 8,870,795 9,125,253 RGD:9068941
G RAX2 retina and anterior neural fold homeobox 2 JBrowse link 2 74,921,553 74,924,834 RGD:9068941
G RBP3 retinol binding protein 3 JBrowse link 14 88,491,701 88,503,388 RGD:9068941
G RCBTB1 RCC1 and BTB domain containing protein 1 JBrowse link 11 18,132,013 18,197,759 RGD:9068941
G RDH12 retinol dehydrogenase 12 JBrowse link 7 91,481,238 91,493,838 RGD:9068941
G RDH5 retinol dehydrogenase 5 JBrowse link 5 21,166,869 21,170,913 RGD:9068941
G RGR retinal G protein coupled receptor JBrowse link 14 85,485,210 85,496,393 RGD:9068941
G RHO rhodopsin JBrowse link 13 68,908,578 68,913,651 RGD:9068941
G RIMS1 regulating synaptic membrane exocytosis 1 JBrowse link 1 51,785,140 52,246,456 RGD:9068941
G RIPK1 receptor interacting serine/threonine kinase 1 JBrowse link 7 1,841,143 1,880,705 RGD:9068941
G RIPK3 receptor interacting serine/threonine kinase 3 JBrowse link 7 74,951,145 74,955,255 RGD:9068941
G RLBP1 retinaldehyde binding protein 1 JBrowse link 7 54,783,965 54,800,008 RGD:9068941
G ROM1 retinal outer segment membrane protein 1 JBrowse link 2 9,125,377 9,127,615 RGD:9068941
G RP1 RP1 axonemal microtubule associated JBrowse link 4 76,724,604 76,730,264 RGD:9068941
G RP1L1 RP1 like 1 JBrowse link 14 13,790,287 13,841,230 RGD:9068941
G RP2 RP2 activator of ARL3 GTPase JBrowse link X 41,488,866 41,534,810 RGD:9068941
G RPE65 retinoid isomerohydrolase RPE65 JBrowse link 6 144,206,078 144,229,471 RGD:9068941
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 34,238,961 34,522,814 RGD:9068941
G RPGRIP1 RPGR interacting protein 1 JBrowse link 7 77,813,964 77,903,973 RGD:9068941
G SAG S-antigen visual arrestin JBrowse link 15 133,704,975 133,741,844 RGD:9068941
G SCAPER S-phase cyclin A associated protein in the ER JBrowse link 7 56,583,247 57,012,312 RGD:9068941
G SEMA4A semaphorin 4A JBrowse link 4 93,865,054 93,892,995 RGD:9068941
G SERPINF1 serpin family F member 1 JBrowse link 12 47,949,004 47,959,471 RGD:9068941
G SLC19A1 solute carrier family 19 member 1 JBrowse link 13 207,986,094 208,007,855 RGD:9068941
G SLC24A1 solute carrier family 24 member 1 JBrowse link 1 163,603,223 163,662,071 RGD:9068941
G SLC6A6 solute carrier family 6 member 6 JBrowse link 13 70,094,073 70,173,581 RGD:9068941
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 JBrowse link 3 46,929,066 46,960,420 RGD:9068941
G SNX17 sorting nexin 17 JBrowse link 3 111,775,038 111,781,545 RGD:9068941
G SOD1 superoxide dismutase 1 JBrowse link 13 195,326,573 195,335,273 RGD:9068941
G SOD2 superoxide dismutase 2 JBrowse link 1 7,679,352 7,689,564 RGD:9068941
G SPATA7 spermatogenesis associated 7 JBrowse link 7 110,309,414 110,368,370 RGD:9068941
G TFPT TCF3 fusion partner JBrowse link 6 56,011,496 56,018,166 RGD:9068941
G TOPORS TOP1 binding arginine/serine rich protein JBrowse link 10 33,865,967 33,878,135 RGD:9068941
G TRPM1 transient receptor potential cation channel subfamily M member 1 JBrowse link 1 143,718,295 143,856,968 RGD:9068941
G TTC8 tetratricopeptide repeat domain 8 JBrowse link 7 110,731,729 110,783,999 RGD:9068941
G TTLL5 tubulin tyrosine ligase like 5 JBrowse link 7 98,822,338 99,090,076 RGD:9068941
G TTPA alpha tocopherol transfer protein JBrowse link 4 70,960,580 70,980,883 RGD:9068941
G TULP1 TUB like protein 1 JBrowse link 7 31,362,670 31,379,948 RGD:9068941
G UNC119 unc-119 lipid binding chaperone JBrowse link 12 44,801,265 44,807,334 RGD:9068941
G USH1C USH1 protein network component harmonin JBrowse link 2 41,593,793 41,646,777 RGD:9068941
G USH1G USH1 protein network component sans JBrowse link 12 6,333,640 6,341,083 RGD:9068941
G USH2A usherin JBrowse link 10 5,825,591 6,662,733 RGD:9068941
G VEGFA vascular endothelial growth factor A JBrowse link 7 38,746,393 38,762,282 RGD:9068941
G VSX2 visual system homeobox 2 JBrowse link 7 97,532,021 97,551,072 RGD:9068941
G WDR19 WD repeat domain 19 JBrowse link 8 30,453,969 30,553,699 RGD:9068941
G ZDHHC24 zinc finger DHHC-type containing 24 JBrowse link 2 5,874,509 5,883,525 RGD:9068941
G ZFYVE26 zinc finger FYVE-type containing 26 JBrowse link 7 91,518,444 91,590,480 RGD:9068941
G ZNF513 zinc finger protein 513 JBrowse link 3 111,771,406 111,774,928 RGD:9068941
retinitis pigmentosa 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RP1 RP1 axonemal microtubule associated JBrowse link 4 76,724,604 76,730,264 RGD:7240710
RGD:9068941
retinitis pigmentosa 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IMPDH1 inosine monophosphate dehydrogenase 1 JBrowse link 18 19,979,983 19,996,432 RGD:7240710
RGD:9068941
retinitis pigmentosa 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPF31 pre-mRNA processing factor 31 JBrowse link 6 55,995,087 56,011,507 RGD:7240710
RGD:9068941
retinitis pigmentosa 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRB1 crumbs cell polarity complex component 1 JBrowse link 10 20,137,246 20,332,539 RGD:7240710
RGD:9068941
retinitis pigmentosa 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPF8 pre-mRNA processing factor 8 JBrowse link 12 47,861,041 47,895,286 RGD:7240710
RGD:9068941
retinitis pigmentosa 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TULP1 TUB like protein 1 JBrowse link 7 31,362,670 31,379,948 RGD:7240710
RGD:9068941
retinitis pigmentosa 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CA4 carbonic anhydrase 4 JBrowse link 12 37,962,951 37,972,443 RGD:7240710
RGD:9068941
retinitis pigmentosa 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPF3 pre-mRNA processing factor 3 JBrowse link 4 98,745,263 98,771,724 RGD:7240710
RGD:9068941
retinitis pigmentosa 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ABCA4 ATP binding cassette subfamily A member 4 JBrowse link 4 123,202,720 123,333,044 RGD:7240710
RGD:9068941
retinitis pigmentosa 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARL3 ADP ribosylation factor like GTPase 3 JBrowse link 14 113,668,375 113,699,583 RGD:9068941
G RP2 RP2 activator of ARL3 GTPase JBrowse link X 41,488,866 41,534,810 RGD:7240710
RGD:9068941
retinitis pigmentosa 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPE65 retinoid isomerohydrolase RPE65 JBrowse link 6 144,206,078 144,229,471 RGD:7240710
RGD:9068941
retinitis pigmentosa 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OFD1 OFD1 centriole and centriolar satellite protein JBrowse link X 10,361,403 10,415,502 RGD:7240710
RGD:9068941
retinitis pigmentosa 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EYS eyes shut homolog JBrowse link 1 45,306,446 46,649,722 RGD:7240710
RGD:9068941
G PHF3 PHD finger protein 3 JBrowse link 1 45,219,390 45,295,074 RGD:9068941
retinitis pigmentosa 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CERKL ceramide kinase like JBrowse link 15 87,029,237 87,159,555 RGD:7240710
RGD:9068941
G ITGA4 integrin subunit alpha 4 JBrowse link 15 86,942,054 87,028,428 RGD:9068941
retinitis pigmentosa 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NRL neural retina leucine zipper JBrowse link 7 75,199,048 75,211,655 RGD:7240710
RGD:9068941
retinitis pigmentosa 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FAM161A FAM161 centrosomal protein A JBrowse link 3 79,952,698 79,978,584 RGD:7240710
RGD:9068941
retinitis pigmentosa 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IQCB1 IQ motif containing B1 JBrowse link 13 138,689,544 138,741,228 RGD:9068941
G RP2 RP2 activator of ARL3 GTPase JBrowse link X 41,488,866 41,534,810 RGD:9068941
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 34,238,961 34,522,814 RGD:7240710
RGD:9068941
G RPGRIP1L RPGRIP1 like JBrowse link 6 31,564,937 31,660,540 RGD:9068941
retinitis pigmentosa 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FSCN2 fascin actin-bundling protein 2, retinal JBrowse link 12 1,300,286 1,311,562 RGD:7240710
RGD:9068941
retinitis pigmentosa 31 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TOPORS TOP1 binding arginine/serine rich protein JBrowse link 10 33,865,967 33,878,135 RGD:7240710
RGD:9068941
retinitis pigmentosa 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 JBrowse link 3 46,929,066 46,960,420 RGD:7240710
RGD:9068941
retinitis pigmentosa 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SEMA4A semaphorin 4A JBrowse link 4 93,865,054 93,892,995 RGD:7240710
RGD:9068941
retinitis pigmentosa 36 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CYGB cytoglobin JBrowse link 12 4,977,245 4,988,283 RGD:9068941
G PRCD photoreceptor disc component JBrowse link 12 4,966,627 4,976,694 RGD:7240710
RGD:9068941
retinitis pigmentosa 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NR2E3 nuclear receptor subfamily 2 group E member 3 JBrowse link 1 169,358,662 169,373,175 RGD:7240710
RGD:9068941
retinitis pigmentosa 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MERTK MER proto-oncogene, tyrosine kinase JBrowse link 3 44,349,377 44,483,400 RGD:7240710
RGD:9068941
retinitis pigmentosa 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G USH2A usherin JBrowse link 10 5,825,591 6,662,733 RGD:7240710
RGD:9068941
retinitis pigmentosa 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RHO rhodopsin JBrowse link 13 68,908,578 68,913,651 RGD:7240710
RGD:9068941
retinitis pigmentosa 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDE6B phosphodiesterase 6B JBrowse link 8 80,378 111,960 RGD:7240710
RGD:9068941
retinitis pigmentosa 41 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PROM1 prominin 1 JBrowse link 8 11,215,659 11,331,442 RGD:7240710
RGD:9068941
retinitis pigmentosa 42 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KLHL7 kelch like family member 7 JBrowse link 9 91,901,876 91,971,706 RGD:7240710
RGD:9068941
retinitis pigmentosa 43 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDE6A phosphodiesterase 6A JBrowse link 2 150,926,652 150,986,050 RGD:7240710
RGD:9068941
retinitis pigmentosa 44 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGR retinal G protein coupled receptor JBrowse link 14 85,485,210 85,496,393 RGD:7240710
RGD:9068941
retinitis pigmentosa 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CNGB1 cyclic nucleotide gated channel subunit beta 1 JBrowse link 6 19,752,734 19,865,830 RGD:7240710
RGD:9068941
retinitis pigmentosa 46 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IDH3B isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta JBrowse link 17 32,955,061 32,960,110 RGD:7240710
RGD:9068941
retinitis pigmentosa 47 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SAG S-antigen visual arrestin JBrowse link 15 133,704,975 133,741,844 RGD:7240710
RGD:9068941
retinitis pigmentosa 48 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GUCA1B guanylate cyclase activator 1B JBrowse link 7 37,297,901 37,311,158 RGD:7240710
RGD:9068941
retinitis pigmentosa 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CNGA1 cyclic nucleotide gated channel subunit alpha 1 JBrowse link 8 37,896,460 37,968,935 RGD:7240710
RGD:9068941
G CNGB1 cyclic nucleotide gated channel subunit beta 1 JBrowse link 6 19,752,734 19,865,830 RGD:9068941
retinitis pigmentosa 50 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BEST1 bestrophin 1 JBrowse link 2 9,538,082 9,550,975 RGD:7240710
RGD:9068941
retinitis pigmentosa 51 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TTC8 tetratricopeptide repeat domain 8 JBrowse link 7 110,731,729 110,783,999 RGD:7240710
RGD:9068941
retinitis pigmentosa 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCARE photoreceptor cilium actin regulator JBrowse link 3 110,209,100 110,220,608 RGD:7240710
RGD:9068941
retinitis pigmentosa 55 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARL6 ADP ribosylation factor like GTPase 6 JBrowse link 13 162,509,451 162,556,675 RGD:7240710
RGD:9068941
retinitis pigmentosa 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IMPG2 interphotoreceptor matrix proteoglycan 2 JBrowse link 13 157,672,973 157,763,817 RGD:7240710
RGD:9068941
retinitis pigmentosa 57 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PDE6G phosphodiesterase 6G JBrowse link 12 1,235,886 1,239,808 RGD:7240710
RGD:9068941
retinitis pigmentosa 58 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZNF513 zinc finger protein 513 JBrowse link 3 111,771,406 111,774,928 RGD:7240710
RGD:9068941
retinitis pigmentosa 59 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DHDDS dehydrodolichyl diphosphate synthase subunit JBrowse link 6 83,823,262 83,855,101 RGD:7240710
RGD:9068941
retinitis pigmentosa 60 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPF6 pre-mRNA processing factor 6 JBrowse link 17 62,815,509 62,857,795 RGD:7240710
RGD:9068941
retinitis pigmentosa 61 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLRN1 clarin 1 JBrowse link 13 91,104,850 91,152,397 RGD:7240710
RGD:9068941
retinitis pigmentosa 62 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAK male germ cell associated kinase JBrowse link 7 7,482,089 7,538,373 RGD:7240710
RGD:9068941
retinitis pigmentosa 66 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RBP3 retinol binding protein 3 JBrowse link 14 88,491,701 88,503,388 RGD:7240710
RGD:9068941
retinitis pigmentosa 67 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NEK2 NIMA related kinase 2 JBrowse link 9 131,547,044 131,560,527 RGD:7240710
RGD:9068941
retinitis pigmentosa 68 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SLC7A14 solute carrier family 7 member 14 JBrowse link 13 109,108,461 109,231,712 RGD:7240710
RGD:9068941
retinitis pigmentosa 69 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIZ kizuna centrosomal protein JBrowse link 17 28,975,131 29,082,397 RGD:7240710
RGD:9068941
retinitis pigmentosa 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPH2 peripherin 2 JBrowse link 7 37,788,547 37,805,142 RGD:7240710
RGD:9068941
G ROM1 retinal outer segment membrane protein 1 JBrowse link 2 9,125,377 9,127,615 RGD:7240710
RGD:9068941
Retinitis Pigmentosa 7 with Bull'S-Eye Maculopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPH2 peripherin 2 JBrowse link 7 37,788,547 37,805,142 RGD:9068941
retinitis pigmentosa 70 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPF4 pre-mRNA processing factor 4 JBrowse link 1 253,906,258 253,925,683 RGD:7240710
RGD:9068941
retinitis pigmentosa 71 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT172 intraflagellar transport 172 JBrowse link 3 111,683,674 111,718,504 RGD:7240710
RGD:9068941
G KRTCAP3 keratinocyte associated protein 3 JBrowse link 3 111,718,581 111,720,245 RGD:9068941
retinitis pigmentosa 72 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZNF408 zinc finger protein 408 JBrowse link 2 15,829,489 15,834,549 RGD:7240710
RGD:9068941
retinitis pigmentosa 73 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100154844 heparan-alpha-glucosaminide N-acetyltransferase JBrowse link 17 8,644,388 8,665,004 RGD:7240710
RGD:9068941
G POMK protein O-mannose kinase JBrowse link 17 11,957,615 11,978,919 RGD:9068941
retinitis pigmentosa 74 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BBS2 Bardet-Biedl syndrome 2 JBrowse link 6 18,542,383 18,575,338 RGD:7240710
RGD:9068941
retinitis pigmentosa 75 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGBL5 ATP/GTP binding protein like 5 JBrowse link 3 112,047,234 112,066,977 RGD:7240710
RGD:9068941
Retinitis Pigmentosa 76 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) JBrowse link 6 165,212,828 165,222,412 RGD:7240710
RGD:9068941
G TSPAN1 tetraspanin 1 JBrowse link 6 165,224,619 165,229,516 RGD:9068941
retinitis pigmentosa 77 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G REEP6 receptor accessory protein 6 JBrowse link 2 76,983,431 76,989,017 RGD:7240710
RGD:9068941
Retinitis Pigmentosa 78 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARHGEF18 Rho/Rac guanine nucleotide exchange factor 18 JBrowse link 2 71,651,096 71,747,513 RGD:7240710
RGD:9068941
Retinitis Pigmentosa 79 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HK1 hexokinase 1 JBrowse link 14 72,383,328 72,460,927 RGD:7240710
RGD:9068941
Retinitis Pigmentosa 80 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT140 intraflagellar transport 140 JBrowse link 3 40,309,298 40,372,139 RGD:7240710
RGD:9068941
retinitis pigmentosa 81 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT43 intraflagellar transport 43 JBrowse link 7 99,155,889 99,254,436 RGD:7240710
RGD:9068941
Retinitis Pigmentosa 83 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARL3 ADP ribosylation factor like GTPase 3 JBrowse link 14 113,668,375 113,699,583 RGD:7240710
RGD:9068941
Retinitis Pigmentosa 84 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DHX38 DEAH-box helicase 38 JBrowse link 6 14,998,091 15,016,380 RGD:7240710
RGD:9068941
Retinitis Pigmentosa 85 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHR aryl hydrocarbon receptor JBrowse link 9 86,511,866 86,555,950 RGD:7240710
RGD:9068941
Retinitis Pigmentosa 86 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KIAA1549 KIAA1549 ortholog JBrowse link 18 10,676,845 10,829,487 RGD:7240710
RGD:9068941
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRNT1 tRNA nucleotidyl transferase 1 JBrowse link 13 59,647,835 59,736,054 RGD:7240710
RGD:9068941
retinitis pigmentosa with or without situs inversus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARL2BP ADP ribosylation factor like GTPase 2 binding protein JBrowse link 6 19,207,013 19,215,014 RGD:7240710
RGD:9068941
Retinitis Pigmentosa, Late-Onset Dominant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PRPH2 peripherin 2 JBrowse link 7 37,788,547 37,805,142 RGD:9068941
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADGRV1 adhesion G protein-coupled receptor V1 JBrowse link 2 97,703,648 98,277,847 RGD:9068941
G C14H10orf105 chromosome 14 C10orf105 homolog JBrowse link 14 74,630,827 74,639,180 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 14 74,267,547 74,734,623 RGD:9068941
G CLRN1 clarin 1 JBrowse link 13 91,104,850 91,152,397 RGD:9068941
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 2 142,387,563 142,401,232 RGD:9068941
G LOC100521256 probable histidine--tRNA ligase, mitochondrial JBrowse link 2 142,401,279 142,410,253 RGD:9068941
G MYO7A myosin VIIA JBrowse link 9 11,251,187 11,337,618 RGD:9068941
G OTOP2 otopetrin 2 JBrowse link 12 6,324,188 6,333,513 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 14 95,530,168 96,388,032 RGD:9068941
G PSAP prosaposin JBrowse link 14 74,734,185 74,820,645 RGD:9068941
G USH1C USH1 protein network component harmonin JBrowse link 2 41,593,793 41,646,777 RGD:9068941
G USH1G USH1 protein network component sans JBrowse link 12 6,333,640 6,341,083 RGD:9068941
G USH2A usherin JBrowse link 10 5,825,591 6,662,733 RGD:9068941
G WDR55 WD repeat domain 55 JBrowse link 2 142,378,467 142,384,685 RGD:9068941
G WHRN whirlin JBrowse link 1 255,009,765 255,095,281 RGD:9068941
RHYNS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM67 transmembrane protein 67 JBrowse link 4 42,878,249 42,931,106 RGD:9068941
Senior-Loken Syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NPHP4 nephrocystin 4 JBrowse link 6 66,815,282 66,928,245 RGD:7240710
RGD:9068941
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G EXOSC2 exosome component 2 JBrowse link 1 270,748,534 270,757,717 RGD:7240710
RGD:9068941
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IFT140 intraflagellar transport 140 JBrowse link 3 40,309,298 40,372,139 RGD:7240710
RGD:9068941
Sorsby's fundus dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SYN3 synapsin III JBrowse link 5 12,017,741 12,501,995 RGD:9068941
G TIMP3 TIMP metallopeptidase inhibitor 3 JBrowse link 5 12,185,816 12,242,599 RGD:7240710
RGD:9068941
Spondylometaphyseal Dysplasia with Cone-Rod Dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCYT1A phosphate cytidylyltransferase 1, choline, alpha JBrowse link 13 133,794,337 133,851,004 RGD:7240710
RGD:9068941
Usher syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADGRV1 adhesion G protein-coupled receptor V1 JBrowse link 2 97,703,648 98,277,847 RGD:9068941
G BBS1 Bardet-Biedl syndrome 1 JBrowse link 2 5,886,989 5,906,468 RGD:9068941
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 JBrowse link 10 9,659,876 9,684,115 RGD:9068941
G C10H1orf115 chromosome 10 C1orf115 homolog JBrowse link 10 10,115,917 10,127,722 RGD:9068941
G C14H10orf105 chromosome 14 C10orf105 homolog JBrowse link 14 74,630,827 74,639,180 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 14 74,267,547 74,734,623 RGD:9068941
G CLRN1 clarin 1 JBrowse link 13 91,104,850 91,152,397 RGD:9068941
G DUSP10 dual specificity phosphatase 10 JBrowse link 10 10,866,446 10,905,852 RGD:9068941
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 JBrowse link 10 9,579,301 9,648,416 RGD:9068941
G ESRRG estrogen related receptor gamma JBrowse link 10 6,710,615 7,371,419 RGD:9068941
G GPATCH2 G-patch domain containing 2 JBrowse link 10 7,615,121 7,797,227 RGD:9068941
G GUCA1A guanylate cyclase activator 1A JBrowse link 7 37,282,630 37,296,713 RGD:9068941
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 2 142,387,563 142,401,232 RGD:9068941
G HHIPL2 HHIP like 2 JBrowse link 10 11,315,847 11,345,043 RGD:9068941
G HLX H2.0 like homeobox JBrowse link 10 10,263,441 10,269,882 RGD:9068941
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial JBrowse link 10 9,685,641 9,739,816 RGD:9068941
G LYPLAL1 lysophospholipase like 1 JBrowse link 10 8,946,463 9,061,033 RGD:9068941
G MARK1 microtubule affinity regulating kinase 1 JBrowse link 10 9,980,277 10,106,507 RGD:9068941
G MIR194B microRNA mir-194b JBrowse link 10 9,704,910 9,704,987 RGD:9068941
G MTARC1 mitochondrial amidoxime reducing component 1 JBrowse link 10 10,190,759 10,264,467 RGD:9068941
G MTARC2 mitochondrial amidoxime reducing component 2 JBrowse link 10 10,156,732 10,194,371 RGD:9068941
G MYO7A myosin VIIA JBrowse link 9 11,251,187 11,337,618 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 14 95,530,168 96,388,032 RGD:9068941
G PROM1 prominin 1 JBrowse link 8 11,215,659 11,331,442 RGD:9068941
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 10 9,734,766 9,828,330 RGD:9068941
G RRP15 ribosomal RNA processing 15 homolog JBrowse link 10 8,253,798 8,296,143 RGD:9068941
G SLC30A10 solute carrier family 30 member 10 JBrowse link 10 9,527,523 9,545,493 RGD:9068941
G SPATA17 spermatogenesis associated 17 JBrowse link 10 7,797,448 8,120,892 RGD:9068941
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A JBrowse link 10 11,340,637 11,362,432 RGD:9068941
G TGFB2 transforming growth factor beta 2 JBrowse link 10 8,306,136 8,435,307 RGD:9068941
G USH1C USH1 protein network component harmonin JBrowse link 2 41,593,793 41,646,777 RGD:9068941
G USH1G USH1 protein network component sans JBrowse link 12 6,333,640 6,341,083 RGD:9068941
G USH2A usherin JBrowse link 10 5,825,591 6,662,733 RGD:9068941
G ZDHHC24 zinc finger DHHC-type containing 24 JBrowse link 2 5,874,509 5,883,525 RGD:9068941
Usher syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADGRV1 adhesion G protein-coupled receptor V1 JBrowse link 2 97,703,648 98,277,847 RGD:9068941
G C14H10orf105 chromosome 14 C10orf105 homolog JBrowse link 14 74,630,827 74,639,180 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 14 74,267,547 74,734,623 RGD:9068941
G CIB2 calcium and integrin binding family member 2 JBrowse link 7 47,807,806 47,813,400 RGD:9068941
G ESPN espin JBrowse link 6 67,284,106 67,316,577 RGD:9068941
G MYO7A myosin VIIA JBrowse link 9 11,251,187 11,337,618 RGD:9068941
G OTOP2 otopetrin 2 JBrowse link 12 6,324,188 6,333,513 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 14 95,530,168 96,388,032 RGD:9068941
G PRDM16 PR/SET domain 16 JBrowse link 6 64,704,181 65,012,580 RGD:9068941
G USH1C USH1 protein network component harmonin JBrowse link 2 41,593,793 41,646,777 RGD:9068941
G USH1G USH1 protein network component sans JBrowse link 12 6,333,640 6,341,083 RGD:9068941
G USH2A usherin JBrowse link 10 5,825,591 6,662,733 RGD:9068941
Usher Syndrome Type 1B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MYO7A myosin VIIA JBrowse link 9 11,251,187 11,337,618 RGD:7240710
RGD:9068941
G USH1C USH1 protein network component harmonin JBrowse link 2 41,593,793 41,646,777 RGD:9068941
Usher syndrome type 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G USH1C USH1 protein network component harmonin JBrowse link 2 41,593,793 41,646,777 RGD:7240710
RGD:9068941
Usher syndrome type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C14H10orf105 chromosome 14 C10orf105 homolog JBrowse link 14 74,630,827 74,639,180 RGD:9068941
G CDH23 cadherin related 23 JBrowse link 14 74,267,547 74,734,623 RGD:7240710
RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 14 95,530,168 96,388,032 RGD:7240710
RGD:9068941
G PSAP prosaposin JBrowse link 14 74,734,185 74,820,645 RGD:9068941
Usher syndrome type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCDH15 protocadherin related 15 JBrowse link 14 95,530,168 96,388,032 RGD:7240710
RGD:9068941
Usher syndrome type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G OTOP2 otopetrin 2 JBrowse link 12 6,324,188 6,333,513 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 14 95,530,168 96,388,032 RGD:9068941
G USH1G USH1 protein network component sans JBrowse link 12 6,333,640 6,341,083 RGD:7240710
RGD:9068941
Usher syndrome type 1J term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CIB2 calcium and integrin binding family member 2 JBrowse link 7 47,807,806 47,813,400 RGD:7240710
RGD:9068941
Usher Syndrome Type 1M term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ESPN espin JBrowse link 6 67,284,106 67,316,577 RGD:7240710
RGD:9068941
Usher syndrome type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G USH2A usherin JBrowse link 10 5,825,591 6,662,733 RGD:9068941
Usher syndrome type 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH23 cadherin related 23 JBrowse link 14 74,267,547 74,734,623 RGD:9068941
G KCTD3 potassium channel tetramerization domain containing 3 JBrowse link 10 5,754,180 5,815,126 RGD:9068941
G PDZD7 PDZ domain containing 7 JBrowse link 14 112,088,332 112,111,348 RGD:7240710
RGD:9068941
G USH2A usherin JBrowse link 10 5,825,591 6,662,733 RGD:7240710
RGD:9068941
Usher syndrome type 2C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADGRV1 adhesion G protein-coupled receptor V1 JBrowse link 2 97,703,648 98,277,847 RGD:7240710
RGD:9068941
G PDZD7 PDZ domain containing 7 JBrowse link 14 112,088,332 112,111,348 RGD:7240710
RGD:9068941
G SLC4A7 solute carrier family 4 member 7 JBrowse link 13 13,933,552 14,043,108 RGD:9068941
Usher syndrome type 2D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G WHRN whirlin JBrowse link 1 255,009,765 255,095,281 RGD:7240710
RGD:9068941
Usher syndrome type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLRN1 clarin 1 JBrowse link 13 91,104,850 91,152,397 RGD:9068941
Usher syndrome type 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLRN1 clarin 1 JBrowse link 13 91,104,850 91,152,397 RGD:7240710
RGD:9068941
Usher syndrome type 3B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HARS1 histidyl-tRNA synthetase 1 JBrowse link 2 142,387,563 142,401,232 RGD:7240710
RGD:9068941
Usher Syndrome Type 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARSG arylsulfatase G JBrowse link 12 11,751,930 11,882,844 RGD:7240710
RGD:9068941
Usher Syndrome, Type ID/F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CDH23 cadherin related 23 JBrowse link 14 74,267,547 74,734,623 RGD:9068941
G PCDH15 protocadherin related 15 JBrowse link 14 95,530,168 96,388,032 RGD:9068941
X-linked cone-rod dystrophy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 34,238,961 34,522,814 RGD:7240710
RGD:9068941
X-linked cone-rod dystrophy 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CACNA1F calcium voltage-gated channel subunit alpha1 F JBrowse link X 43,250,449 43,284,458 RGD:7240710
RGD:9068941
X-Linked Retinitis Pigmentosa, and Sinorespiratory Infections, with or without Deafness term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPGR retinitis pigmentosa GTPase regulator JBrowse link X 34,238,961 34,522,814 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11981
    sensory system disease 4340
      eye and adnexa disease 2139
        eye disease 2139
          fundus dystrophy 263
            Bothnia retinal dystrophy 1
            Boucher-Neuhauser syndrome 1
            Ghose Sachdev Kumar Syndrome 0
            Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
            RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 2
            RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 1
            RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 1
            RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA 1
            Reticular Dystrophy of Retinal Pigment Epithelium 0
            Reticular Pigmentary Retinal Dystrophy of Posterior Pole 0
            Retinal Dystrophy and Obesity 1
            Retinal Dystrophy, Early Onset Severe 1
            Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 1
            Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
            cone-rod dystrophy + 54
            dominant pericentral pigmentary retinopathy 0
            dystrophies primarily involving the retinal pigment epithelium + 4
            fundus albipunctatus 5
            hereditary retinal dystrophy + 2
            retinal dystrophies primarily involving Bruch's membrane 0
            retinal dystrophy in systemic or cerebroretinal lipidoses 0
            retinitis pigmentosa + 240
            vitreoretinal dystrophy 0
Path 2
Term Annotations click to browse term
  disease 11981
    disease of anatomical entity 11636
      nervous system disease 9334
        sensory system disease 4340
          eye and adnexa disease 2139
            eye disease 2139
              retinal disease 685
                retinal degeneration 384
                  fundus dystrophy 263
                    Bothnia retinal dystrophy 1
                    Boucher-Neuhauser syndrome 1
                    Ghose Sachdev Kumar Syndrome 0
                    Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
                    RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 2
                    RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 1
                    RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 1
                    RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA 1
                    Reticular Dystrophy of Retinal Pigment Epithelium 0
                    Reticular Pigmentary Retinal Dystrophy of Posterior Pole 0
                    Retinal Dystrophy and Obesity 1
                    Retinal Dystrophy, Early Onset Severe 1
                    Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 1
                    Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
                    cone-rod dystrophy + 54
                    dominant pericentral pigmentary retinopathy 0
                    dystrophies primarily involving the retinal pigment epithelium + 4
                    fundus albipunctatus 5
                    hereditary retinal dystrophy + 2
                    retinal dystrophies primarily involving Bruch's membrane 0
                    retinal dystrophy in systemic or cerebroretinal lipidoses 0
                    retinitis pigmentosa + 240
                    vitreoretinal dystrophy 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.