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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
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
 xref: NCI:C35625
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
fundus dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Retinal dystrophy 		ClinVar
RGD		 PMID:248200 PMID:2552515 PMID:2811866 PMID:2916264 PMID:2955595 More... RGD:7829713 NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10835642 PMID:10835643 PMID:11536079 PMID:11702217 PMID:14631379 More... NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:105,583,682...105,637,895 		JBrowse link
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22938382 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr 3:160,119,724...160,179,959
Ensembl chr 3:160,119,724...160,179,969 		JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:90,114,250...90,156,286
Ensembl chr17:90,114,375...90,156,286 		JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3248392 PMID:25351951 PMID:25741868 PMID:27528516 PMID:28492532 More... NCBI chr 7:115,265,816...115,308,931
Ensembl chr 7:115,265,791...115,308,892 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:73,725,186...73,804,284
Ensembl chr16:73,725,114...73,804,646 		JBrowse link
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32483926 NCBI chr19:58,596,095...58,749,239
Ensembl chr19:58,597,761...58,749,138 		JBrowse link
G Adgra3 adhesion G protein-coupled receptor A3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:28714225 PMID:30718709 NCBI chr14:65,085,418...65,188,949
Ensembl chr14:65,087,380...65,188,959 		JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:3258136 PMID:3442652 PMID:3505517 PMID:16199547 More... NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:33523960 NCBI chr13:48,411,438...48,431,251
Ensembl chr13:48,411,826...48,431,255 		JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr18:63,224,163...63,269,000
Ensembl chr18:63,224,163...63,269,000 		JBrowse link
G Agbl5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27842159 More... NCBI chr 6:31,192,281...31,213,494
Ensembl chr 6:31,191,635...31,210,676 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:15322546 PMID:16155189 PMID:16199547 PMID:16453322 More... NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:17,582,006...17,711,774 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:57,961,423...57,998,901 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3257969 PMID:3442652 PMID:9536098 PMID:10615133 PMID:10873396 More... NCBI chr10:57,154,226...57,163,455
Ensembl chr10:57,154,226...57,163,455 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2440063 PMID:2871766 PMID:11941369 PMID:11941370 PMID:15689433 More... NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:119,683,076...119,783,471 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3286 PMID:20613862 PMID:25333062 PMID:25741868 PMID:26085577 More... NCBI chr12:17,207,315...17,222,975
Ensembl chr12:17,207,315...17,222,467 		JBrowse link
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:25741868 PMID:28132693 PMID:28492532 NCBI chr12:6,192,958...6,300,997
Ensembl chr12:6,128,661...6,300,997 		JBrowse link
G Arl2bp ARF like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27790702 PMID:28041643 PMID:28492532 PMID:30210231 More... NCBI chr19:10,342,895...10,352,529
Ensembl chr19:10,342,895...10,352,514 		JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:33748123 NCBI chr 1:255,342,078...255,388,087
Ensembl chr 1:255,342,076...255,388,279 		JBrowse link
G Arl6 ARF like GTPase 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15258860 PMID:15314642 PMID:17160889 PMID:19236846 PMID:19858128 More... NCBI chr11:54,180,271...54,207,136
Ensembl chr11:54,181,241...54,210,813 		JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr10:94,912,094...95,063,021
Ensembl chr10:94,913,152...95,042,447 		JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:215,436,180...215,456,188
Ensembl chr 1:215,435,218...215,456,198 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30202406 NCBI chr13:85,460,312...85,639,959
Ensembl chr13:85,462,840...85,640,033 		JBrowse link
G Atxn7 ataxin 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr15:13,547,859...13,693,311
Ensembl chr15:13,547,862...13,693,526 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3646071 PMID:9536098 PMID:12118255 PMID:12677556 PMID:12920096 More... NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:211,615,533...211,633,468 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16582908 PMID:16823392 PMID:17980398 PMID:19190184 PMID:20080638 More... NCBI chr 7:48,637,324...48,640,395
Ensembl chr 7:48,637,356...48,640,391 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17160889 PMID:20080638 PMID:20120035 PMID:20472660 PMID:20498079 More... NCBI chr 2:122,131,550...122,149,152
Ensembl chr 2:122,137,856...122,149,153 		JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11285252 PMID:11567139 PMID:12016587 PMID:12677556 PMID:12837689 More... NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,915,476...10,950,921 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:11381270 PMID:12016587 PMID:16199547 PMID:17576681 More... NCBI chr 8:68,627,739...68,661,232
Ensembl chr 8:68,627,656...68,661,358 		JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 More... NCBI chr 3:74,818,104...74,839,658
Ensembl chr 3:74,818,473...74,857,023 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12567324 PMID:16199547 PMID:19402160 PMID:20498079 PMID:21209035 More... NCBI chr 2:121,362,884...121,402,473
Ensembl chr 2:121,362,885...121,402,473 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:35886 PMID:16380913 PMID:20177705 PMID:21209035 PMID:24849935 More... NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:29,289,997...29,713,880 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:218785 PMID:1937259 PMID:2388086 PMID:2508288 PMID:2848834 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22594991 PMID:22673887 PMID:24036949 PMID:24036950 PMID:24036952 More... NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,174,412...2,201,339 		JBrowse link
G Ca4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17652713 PMID:19211803 PMID:20450258 PMID:28492532 PMID:30718709 More... NCBI chr10:70,325,102...70,333,916
Ensembl chr10:70,325,358...70,333,916 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25307992 PMID:25741868 PMID:28041643 PMID:28341476 PMID:28492532 More... NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:210,858,133...210,862,632 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9529339 PMID:9536098 PMID:9662399 PMID:9662400 PMID:10900517 More... NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25132214 PMID:25741868 More... NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:154,080,877...154,193,778 		JBrowse link
G Capn5 calpain 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:24463507 PMID:25741868 PMID:28492532 NCBI chr 1:161,827,474...161,884,142
Ensembl chr 1:161,827,474...161,884,142 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:9536098 PMID:17576681 PMID:19466712 PMID:19777577 More... NCBI chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 8:118,601,002...118,619,943
Ensembl chr 8:118,601,019...118,619,943 		JBrowse link
G Cct2 chaperonin containing TCP1 subunit 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:54,578,654...54,591,428
Ensembl chr 7:54,578,663...54,592,977 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2706105 PMID:3442652 PMID:9536098 PMID:11138009 PMID:11857743 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12445216 PMID:14708629 PMID:15805154 PMID:25741868 PMID:26885695 More... NCBI chr19:51,303,414...51,353,900
Ensembl chr19:51,300,083...51,354,257 		JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3511945 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20087419 More... NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,863,696...12,883,579 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:22863007 PMID:25741868 PMID:26546047 PMID:28125082 More... NCBI chr 8:54,967,621...55,031,264
Ensembl chr 8:54,967,621...55,031,206 		JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 NCBI chr 3:164,931,033...164,976,210
Ensembl chr 3:164,931,066...164,976,210 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3253185 PMID:3442652 PMID:16199547 PMID:16682970 PMID:16682973 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:16199547 PMID:24033266 PMID:25741868 PMID:27588451 More... NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:222,674,194...222,702,120 		JBrowse link
G Cerkl CERK like autophagy regulator ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:16199547 PMID:18978954 PMID:19501188 More... NCBI chr 3:84,641,121...84,747,999
Ensembl chr 3:84,645,696...84,747,688 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3203609 PMID:3253185 PMID:3258136 PMID:9536098 PMID:16199547 More... NCBI chr20:10,687,506...10,694,366
Ensembl chr20:10,687,506...10,694,366 		JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22177090 PMID:25113443 PMID:25515582 PMID:25741868 PMID:26355662 More... NCBI chr 5:28,789,580...28,812,891
Ensembl chr 5:28,792,692...28,812,887 		JBrowse link
G Cfh complement factor H ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3418956 PMID:11158219 PMID:11170895 PMID:12424708 PMID:12697737 More... NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1044764 PMID:1598901 PMID:2381103 PMID:2552515 PMID:3646071 More... NCBI chr  X:82,395,463...82,554,249
Ensembl chr  X:82,396,816...82,568,642 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2911222 PMID:25741868 PMID:26173970 PMID:28492532 PMID:28663585 More... NCBI chr 8:63,826,410...63,843,301
Ensembl chr 8:63,826,411...63,843,277 		JBrowse link
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16189710 PMID:25741868 PMID:28492532 PMID:30157172 NCBI chr 2:198,984,455...199,015,015
Ensembl chr 2:198,984,495...199,015,014 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7553855 PMID:9311735 PMID:9392580 PMID:9450775 PMID:9490299 More... NCBI chr 1:190,586,649...190,600,034
Ensembl chr 1:190,586,650...190,597,929 		JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr15:86,308,286...86,321,679
Ensembl chr 2:67,620,667...67,622,952
Ensembl chr15:67,620,667...67,622,952 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 More... NCBI chr 2:145,233,941...145,280,855
Ensembl chr 2:145,233,941...145,280,855 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:12,094,346...12,159,440
Ensembl chr10:12,094,346...12,131,693 		JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3158961 PMID:3196484 PMID:3625972 PMID:9662398 PMID:11536077 More... NCBI chr 9:46,943,353...46,989,862
Ensembl chr 9:46,928,810...46,989,862 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:3384701 PMID:3442652 PMID:3646071 PMID:15557452 More... NCBI chr19:9,732,646...9,798,864
Ensembl chr19:9,732,646...9,797,224 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1347967 PMID:2879551 PMID:3196484 PMID:3442652 PMID:9536098 More... NCBI chr 5:37,543,903...37,792,030
Ensembl chr 5:37,543,903...37,792,030 		JBrowse link
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15173235 PMID:19200525 PMID:19200527 PMID:23362848 PMID:25525159 More... NCBI chr 9:46,207,602...46,246,817
Ensembl chr 9:46,207,551...46,246,817 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:37079061 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12415512 PMID:12766032 PMID:25456301 PMID:25741868 PMID:28041643 More... NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,473,645...11,582,112 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10706362 PMID:11007540 PMID:15895462 PMID:16199547 PMID:16752401 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:34,003,905...34,164,543 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1427914 PMID:2552515 PMID:2953188 PMID:3105428 PMID:3196484 More... NCBI chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2098109 PMID:9427255 PMID:9792858 PMID:9931337 PMID:10766140 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:85,667,971...85,681,852 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:13,860,072...13,975,299
Ensembl chr 5:13,860,072...13,975,321 		JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28041643 PMID:28492532 PMID:30515673 PMID:32051609 More... NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007 		JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28285769 PMID:28492532 NCBI chr 2:37,498,462...37,709,691
Ensembl chr 2:37,498,468...37,709,355 		JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:15042513 PMID:15937078 PMID:16088246 PMID:16179904 More... NCBI chr16:53,650,978...53,675,916
Ensembl chr16:53,650,569...53,676,746 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29276052 PMID:31456290 PMID:37734845 NCBI chr 5:151,482,139...151,508,248
Ensembl chr 5:151,481,429...151,508,129 		JBrowse link
G Dhx38 DEAH-box helicase 38 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr19:54,422,418...54,439,434
Ensembl chr19:54,422,418...54,439,423 		JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... NCBI chr12:27,264,861...27,265,940
Ensembl chr12:27,262,802...27,266,169 		JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:98,084,049...98,135,663
Ensembl chr11:98,085,397...98,137,420 		JBrowse link
G Dram2 DNA damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:25741868 PMID:25983245 PMID:28492532 PMID:32483926 More... NCBI chr 2:196,724,052...196,752,645
Ensembl chr 2:196,723,858...196,755,103 		JBrowse link
G Dthd1 death domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:50,773,694...50,877,217 JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 More... NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:12,473,955...12,697,058 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:33,703,882...33,719,960
Ensembl chr 3:33,703,882...33,719,960 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:15785976 More... NCBI chr14:106,811,769...106,890,961
Ensembl chr14:106,802,304...106,892,808 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11138005 PMID:15028284 PMID:23509295 PMID:24833735 PMID:25741868 More... NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:93,582,930...93,609,678 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:26572623 PMID:26942288 PMID:28492532 PMID:29271071 More... NCBI chr 5:156,891,773...156,917,092
Ensembl chr 5:156,891,773...156,917,092 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30344259 PMID:30622556 More... NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:167,909,271...167,942,984 		JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:35,360,652...35,370,948
Ensembl chr 3:35,360,666...35,371,373 		JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10507729 PMID:20705278 PMID:20705279 PMID:23591405 PMID:24651477 More... NCBI chr14:101,210,694...101,256,020
Ensembl chr14:101,210,662...101,229,535 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2965322 PMID:21576112 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:126,664,100...126,742,847
Ensembl chr 6:126,664,100...126,746,296 		JBrowse link
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr10:101,006,845...101,015,582
Ensembl chr10:101,006,849...101,015,542 		JBrowse link
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:25741868 PMID:26257771 More... NCBI chr13:105,117,402...105,139,780
Ensembl chr13:105,117,402...105,139,759 		JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr  X:135,261,272...135,308,178
Ensembl chr  X:135,261,029...135,308,786 		JBrowse link
G Fscn2 fascin actin-bundling protein 2, retinal ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 More... NCBI chr10:106,121,038...106,139,683
Ensembl chr10:106,133,144...106,139,683 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:14507768 PMID:15223780 PMID:15370539 PMID:17955262 PMID:20938005 More... NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:152,692,507...152,701,372 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:18425797 PMID:19129173 PMID:23307924 PMID:23620759 PMID:24033266 More... NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:34064 PMID:11095744 PMID:25741868 PMID:28492532 PMID:31736247 More... NCBI chr 8:117,229,575...117,234,311
Ensembl chr 8:117,229,575...117,234,311 		JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12077706 PMID:25741868 PMID:27479814 PMID:28492532 PMID:31058429 More... NCBI chr 2:198,414,568...198,431,532
Ensembl chr 2:198,414,920...198,424,022 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27063057 PMID:28492532 PMID:31589614 PMID:31964843 More... NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:159,325,742...159,331,445 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3634453 PMID:15060128 PMID:19370764 PMID:20301784 PMID:24807205 More... NCBI chr10:14,756,685...14,761,636 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 More... NCBI chr10:82,820,954...82,836,833
Ensembl chr10:82,821,113...82,836,833 		JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9020843 PMID:9268593 PMID:22959359 PMID:25741868 PMID:26349155 More... NCBI chr16:82,821,184...82,837,971
Ensembl chr16:82,826,022...82,837,971 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:35,669,003...35,683,729
Ensembl chr10:35,669,003...35,683,729 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3134521 PMID:15452722 PMID:25741868 PMID:26161267 PMID:28492532 More... NCBI chr 9:21,097,274...21,105,107
Ensembl chr 9:21,097,274...21,105,107 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1512399 PMID:3636964 PMID:8554074 PMID:9618177 PMID:10676808 More... NCBI chr10:54,453,753...54,478,639
Ensembl chr10:54,457,844...54,472,898 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2552515 PMID:9536098 PMID:16199547 PMID:17033958 PMID:17397050 More... NCBI chr16:72,807,967...72,840,180
Ensembl chr16:72,807,849...72,840,176 		JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25190649 PMID:25316723 PMID:25741868 PMID:26427411 PMID:28492532 More... NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		JBrowse link
G Hmx1 H6 family homeobox 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:79,585,840...79,589,626
Ensembl chr14:79,585,840...79,589,626 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:63,867,882...63,887,223
Ensembl chr 8:63,867,820...63,887,223 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:137,934,697...137,940,107 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:16199547 PMID:22282595 PMID:22503633 PMID:23418020 More... NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,537,466...14,624,926 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:24140113 PMID:25741868 PMID:26893459 More... NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:30,801,918...30,840,830 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 7:111,619,145...111,635,129
Ensembl chr 7:111,619,077...111,634,936 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:114,576,106...114,679,581
Ensembl chr 5:114,593,397...114,679,581 		JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chr12:39,618,559...39,697,971
Ensembl chr12:39,618,651...39,697,962 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:317257 PMID:9536098 PMID:11875049 PMID:11875050 PMID:14981049 More... NCBI chr 4:58,767,230...58,782,825
Ensembl chr 4:58,767,230...58,783,124 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:9536098 PMID:17576681 PMID:23993198 PMID:25741868 More... NCBI chr 8:90,123,821...90,269,903
Ensembl chr 8:90,123,821...90,269,903 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2487627 PMID:2855908 PMID:2864439 PMID:3253185 PMID:3357679 More... NCBI chr11:57,787,914...57,887,450
Ensembl chr11:57,787,914...58,033,766 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15786477 PMID:19668216 PMID:23034536 PMID:23386033 PMID:25741868 More... NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24610927 PMID:25741868 PMID:28492532 NCBI chr 5:67,406,511...67,559,355
Ensembl chr 5:67,406,485...67,559,350 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... NCBI chr11:77,410,986...77,465,540
Ensembl chr11:77,410,314...77,465,478 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11180599 PMID:25741868 PMID:28492532 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 PMID:19952985 More... NCBI chr 1:234,409,067...234,485,894
Ensembl chr 1:234,413,096...234,495,298 		JBrowse link
G Kiaa0586 KIAA0586 homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr 6:95,358,682...95,461,911
Ensembl chr 6:95,358,619...95,462,148 		JBrowse link
G Kiaa1549 KIAA1549 homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:67,807,635...67,935,303
Ensembl chr 4:67,811,803...67,935,360 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22284827 PMID:22653704 PMID:24281367 PMID:25124931 PMID:25741868 More... NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:244,494,875...244,589,250 		JBrowse link
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 3:162,218,621...162,258,191
Ensembl chr 3:162,218,682...162,258,581 		JBrowse link
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24680887 PMID:25741868 PMID:28492532 PMID:28837078 PMID:29057815 More... NCBI chr 3:154,730,873...154,838,410
Ensembl chr 3:154,730,634...154,838,410 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19520207 PMID:20547956 PMID:21828050 PMID:25741868 PMID:27392078 More... NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796 		JBrowse link
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:34547244 NCBI chr 9:115,139,548...115,263,620
Ensembl chr 9:115,139,548...115,264,251 		JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:8571951 PMID:12642313 PMID:16199547 PMID:17546029 More... NCBI chr 8:93,187,735...93,255,060
Ensembl chr 8:93,197,702...93,254,991 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3144818 PMID:21217109 PMID:22559933 PMID:24265693 PMID:25741868 More... NCBI chr 2:170,562,148...170,571,212
Ensembl chr 2:170,565,543...170,571,148 		JBrowse link
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 2:221,011,458...221,034,568
Ensembl chr 2:221,011,595...221,031,747 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 PMID:28492532 NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:8832721 PMID:9831343 PMID:11719191 PMID:12579474 More... NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:210,243,502...210,346,822 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 8:132,222,339...132,237,757
Ensembl chr 8:132,222,342...132,237,684 		JBrowse link
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3105428 PMID:16199547 PMID:21148103 PMID:21825139 PMID:21835304 More... NCBI chr17:23,889,417...23,936,857
Ensembl chr17:23,889,516...23,936,855 		JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 8:116,808,429...116,842,228
Ensembl chr 8:116,808,429...116,842,228 		JBrowse link
G Mcat malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 7:116,573,632...116,585,767
Ensembl chr 7:116,573,368...116,584,562 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:32036093 PMID:36139381 PMID:38532569 NCBI chr12:6,357,851...6,372,151
Ensembl chr12:6,357,807...6,372,151 		JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3055739 PMID:3196484 PMID:3253185 PMID:9536098 PMID:11062461 More... NCBI chr 3:136,391,936...136,498,366
Ensembl chr 3:136,383,560...136,500,192 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16762064 PMID:17576681 PMID:19889647 PMID:20350294 More... NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:163,587,463...163,618,495 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:19177532 PMID:21990111 PMID:25227500 PMID:25333361 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:125,749,994...125,785,919 		JBrowse link
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:29177109 NCBI chr 7:113,666,918...113,679,550
Ensembl chr 7:113,666,901...113,683,977 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:10802661 PMID:10973251 PMID:11567139 PMID:12107442 More... NCBI chr 3:144,654,563...144,672,831
Ensembl chr 3:144,654,566...144,672,831 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:9536098 PMID:17576681 PMID:18327255 PMID:23105016 More... NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16311595 PMID:19370762 PMID:24210589 PMID:25398587 PMID:25741868 More... NCBI chr 5:135,403,094...135,409,285
Ensembl chr 5:135,402,404...135,409,235 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1346348 PMID:1352537 PMID:1417830 PMID:1635296 PMID:1734726 More... NCBI chr MT:10,160...11,537
Ensembl chr MT:10,145...11,522 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1463007 PMID:1634041 PMID:5511487 PMID:7219534 PMID:8470982 More... NCBI chr MT:13,543...14,061
Ensembl chr MT:13,531...14,049 		JBrowse link
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr17:58,015,979...58,036,735
Ensembl chr17:58,015,979...58,036,954 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3158961 PMID:8386351 PMID:9334262 PMID:10369261 PMID:10369262 More... NCBI chr12:47,802,002...47,819,503
Ensembl chr12:47,802,002...47,819,503 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:31345219 NCBI chr 1:212,829,917...212,843,474
Ensembl chr 1:212,829,916...212,843,474 		JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:25741868 PMID:26073778 PMID:26541327 PMID:27789416 More... NCBI chr 6:41,777,253...42,081,895
Ensembl chr 6:41,755,851...42,081,895 		JBrowse link
G Nek2 NIMA-related kinase 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3667284 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32483926 NCBI chr13:105,936,809...105,950,054
Ensembl chr13:105,936,788...105,950,056 		JBrowse link
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:84,766,483...84,770,454
Ensembl chr 3:84,764,725...84,770,810 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 More... NCBI chr 5:165,193,301...165,211,213
Ensembl chr 5:165,193,302...165,211,231 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2825423 PMID:8852662 PMID:9536098 PMID:10620543 PMID:10839884 More... NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:135,413,927...135,469,505 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12205563 PMID:15776426 PMID:16199547 PMID:21068128 PMID:21546380 More... NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:168,271,073...168,358,242 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3032442 PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 More... NCBI chr 8:69,261,343...69,269,081
Ensembl chr 8:69,261,343...69,269,081 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:9,776,179...9,785,924
Ensembl chr 2:9,776,179...9,785,924 		JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17335 PMID:11385710 PMID:11879142 PMID:15591106 PMID:15994872 More... NCBI chr15:32,977,023...32,981,442
Ensembl chr15:32,977,035...32,981,442 		JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3098017 PMID:11062471 PMID:11062472 PMID:12552565 PMID:19578023 More... NCBI chr  X:11,953,680...11,974,716
Ensembl chr  X:11,953,018...11,974,810 		JBrowse link
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1609808 PMID:1737786 PMID:2492100 PMID:3196484 PMID:3339136 More... NCBI chr 1:196,777,973...196,797,754
Ensembl chr 1:196,777,975...196,797,754 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16783569 PMID:18414213 PMID:18546297 PMID:25741868 PMID:26092869 More... NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9490303 PMID:9917792 PMID:11017079 PMID:11017080 PMID:11440988 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:17541950 PMID:22715480 PMID:25741868 PMID:28492532 More... NCBI chr15:24,422,876...24,432,709
Ensembl chr15:24,422,876...24,432,472 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12510040 PMID:25741868 PMID:28492532 NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3077329 PMID:22213154 PMID:24676634 PMID:25741868 PMID:28041643 More... NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:253,555,418...253,645,438 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:312135 PMID:3196484 PMID:20398884 PMID:20398886 PMID:20811058 More... NCBI chr 6:29,469,232...29,478,541
Ensembl chr 6:29,469,817...29,478,541 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:14570705 PMID:16199547 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr11:81,818,914...81,862,623
Ensembl chr11:81,819,285...81,862,395 		JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:7493036 PMID:9536098 PMID:10393062 PMID:16199547 More... NCBI chr18:56,947,249...57,019,015
Ensembl chr18:56,947,249...57,019,015 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3145629 PMID:3253185 PMID:7724547 PMID:8394174 PMID:8595886 More... NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,468,302...1,511,435 		JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3182623 PMID:16199547 PMID:19615668 PMID:19887631 PMID:23776498 More... NCBI chr 1:245,322,015...245,377,874
Ensembl chr 1:245,322,015...245,377,852 		JBrowse link
G Pde6g phosphodiesterase 6G ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:36819107 NCBI chr10:106,219,849...106,224,496
Ensembl chr10:106,219,849...106,224,496 		JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22901948 PMID:25741868 PMID:27472364 PMID:27479814 PMID:28492532 More... NCBI chr 4:171,588,896...171,604,142
Ensembl chr 4:171,588,974...171,604,249 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1301993 PMID:2063923 PMID:3196484 PMID:9398847 PMID:9398848 More... NCBI chr 4:31,474,670...31,513,621
Ensembl chr 4:31,470,845...31,513,811 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:156,085,967...156,099,096
Ensembl chr 4:156,086,960...156,099,093 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16530715 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25079577 More... NCBI chr 9:21,755,747...21,767,939
Ensembl chr 9:21,755,751...21,767,908 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:12325024 PMID:14974078 PMID:17576681 PMID:20301447 More... NCBI chr 1:16,402,319...16,466,304
Ensembl chr 1:16,402,320...16,466,366 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9326939 PMID:9326940 PMID:10767344 PMID:11555634 PMID:11948235 More... NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8586428 PMID:17377520 PMID:20981092 PMID:22405330 PMID:22995991 More... NCBI chr10:57,173,230...57,265,186
Ensembl chr10:57,175,721...57,265,291 		JBrowse link
G Plk4 polo-like kinase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 2:125,730,480...125,748,894
Ensembl chr 2:125,730,460...125,748,892 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2557489 PMID:3963113 PMID:8053762 PMID:16199547 PMID:18313024 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631 		JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:25018096 PMID:25741868 PMID:28492532 PMID:29220607 More... NCBI chr 7:35,810,761...35,912,571
Ensembl chr 7:35,810,820...35,912,571 		JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25642776 PMID:25741868 PMID:28492532 PMID:34356048 PMID:34426522 NCBI chr 2:29,454,392...29,483,468
Ensembl chr 2:29,454,272...29,485,309 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:134,870,975...134,880,863 		JBrowse link
G Prdm13 PR/SET domain 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9238090 PMID:9924305 PMID:25741868 PMID:26507665 PMID:27551809 More... NCBI chr 5:40,017,607...40,029,658
Ensembl chr 5:40,017,607...40,038,207 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3057632 PMID:3181667 PMID:3253185 PMID:3442652 PMID:9634506 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1547381 PMID:2143091 PMID:2526663 PMID:7579448 PMID:7803790 More... NCBI chr11:13,676,310...13,757,858
Ensembl chr11:13,676,769...13,757,852 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11773002 PMID:15085354 PMID:16799052 PMID:17517693 PMID:17932117 More... NCBI chr 2:186,067,980...186,092,427
Ensembl chr 2:186,067,162...186,092,427 		JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2552515 PMID:2825385 PMID:2855908 PMID:3071870 PMID:3253185 More... NCBI chr 1:74,491,247...74,502,922
Ensembl chr 1:74,491,247...74,502,922 		JBrowse link
G Prpf4 pre-mRNA splicing tri-snRNP complex factor PRPF4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24419317 PMID:24959063 PMID:25741868 PMID:28492532 NCBI chr 5:80,875,511...80,889,501
Ensembl chr 5:80,875,498...80,889,497 		JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25356976 PMID:25741868 PMID:28492532 More... NCBI chr 3:189,084,465...189,148,705
Ensembl chr 3:189,081,794...189,152,786 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3646071 PMID:11468273 PMID:11910553 PMID:12714658 PMID:16799052 More... NCBI chr10:60,829,778...60,852,887
Ensembl chr10:60,829,778...60,852,887 		JBrowse link
G Prph2 peripherin 2 no_association ISO DNA:polymorphism:exon:p.E304Q,G338D(human)
ClinVar Annotator: match by term: Retinal dystrophy
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:279751 PMID:1427912 PMID:1684223 PMID:3441139 PMID:3646071 More... RGD:8553224 NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3278127 PMID:24961627 PMID:25741868 PMID:28492532 PMID:28967191 More... NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:108,920,651...108,942,711 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23746546 PMID:25741868 PMID:28492532 NCBI chr14:73,458,386...73,535,367
Ensembl chr14:73,458,249...73,535,369 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:54,780,858...54,911,857 		JBrowse link
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:9614228 PMID:17576681 PMID:19074801 PMID:21067480 More... NCBI chr16:9,273,787...9,282,255
Ensembl chr16:9,273,787...9,282,646 		JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:245,306,349...245,313,898 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:37,430,453...37,477,920
Ensembl chr15:37,435,070...37,480,803 		JBrowse link
G Rd3 RD3 regulator of GUCY2D ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23308101 PMID:25741868 PMID:28492532 PMID:31964843 PMID:32083505 More... NCBI chr13:106,060,657...106,097,063
Ensembl chr13:106,084,171...106,093,540 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18048336 NCBI chr 6:103,748,457...103,761,379
Ensembl chr 6:103,748,427...103,761,380 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:10,024,601...10,031,507
Ensembl chr 7:10,024,602...10,031,740 		JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10581022 PMID:22995991 PMID:24265693 PMID:25741868 PMID:27623334 More... NCBI chr16:12,821,858...12,836,665
Ensembl chr16:12,821,858...12,836,486 		JBrowse link
G Rgs9 regulator of G-protein signaling 9 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11262419 PMID:14702087 PMID:16199547 PMID:25741868 PMID:28492532 More... NCBI chr10:94,696,556...94,770,387
Ensembl chr10:94,696,556...94,770,387 		JBrowse link
G Rgs9bp regulator of G protein signaling 9 binding protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:31589614 PMID:34795310 NCBI chr 1:97,386,326...97,387,039
Ensembl chr 1:97,386,326...97,387,039 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1301135 PMID:1302614 PMID:1303237 PMID:1418997 PMID:1484692 More... NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9634506 PMID:12659814 PMID:18690027 PMID:23591405 PMID:25741868 More... NCBI chr 9:32,193,352...32,692,998
Ensembl chr 9:32,193,352...32,692,772 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2392416 PMID:10102298 PMID:10102299 PMID:11301032 PMID:11449319 More... NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:142,718,262...142,731,621 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:7904211 PMID:8202715 PMID:8595413 PMID:9331261 More... NCBI chr 1:215,253,155...215,255,163
Ensembl chr 1:215,253,159...215,255,163 		JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1783394 PMID:3196484 PMID:3253185 PMID:8931712 PMID:9536098 More... NCBI chr 5:19,918,728...20,380,811
Ensembl chr 5:19,918,799...20,377,580 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3158961 PMID:3253185 PMID:3442652 PMID:20826268 PMID:22277662 More... NCBI chr15:42,435,803...42,447,165
Ensembl chr15:42,435,803...42,447,165 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3091758 PMID:3642373 PMID:3646071 PMID:9536098 PMID:9697692 More... NCBI chr  X:4,426,071...4,470,200
Ensembl chr  X:4,403,052...4,530,576 		JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3181667 PMID:12032732 PMID:23591405 PMID:25741868 PMID:28492532 NCBI chr 8:29,218,564...29,281,211
Ensembl chr 8:29,217,346...29,281,150 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy 		CTD
ClinVar		 PMID:2233437 PMID:3196484 PMID:9326927 PMID:9326941 PMID:9501220 More... NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:251,425,368...251,457,156 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy 		CTD
ClinVar		 PMID:288634 PMID:349855 PMID:2552515 PMID:3200084 PMID:3214136 More... NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy 		CTD
ClinVar		 PMID:2426569 PMID:3007274 PMID:3442652 PMID:9536098 PMID:11528500 More... NCBI chr15:27,282,997...27,341,021
Ensembl chr15:27,282,998...27,341,021 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:25741868 PMID:28492532 PMID:29343940 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:30652 PMID:2422791 PMID:9326935 PMID:9618178 PMID:10220153 More... NCBI chr  X:37,771,135...37,800,894
Ensembl chr  X:37,771,135...37,800,894 		JBrowse link
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32855858 NCBI chr20:48,964,903...49,004,235
Ensembl chr20:48,964,816...49,006,456 		JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7670478 PMID:9452120 PMID:9501883 PMID:9565049 PMID:15234147 More... NCBI chr 9:95,915,640...95,956,641
Ensembl chr 9:95,917,197...95,956,507 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:172,113,900...172,142,026
Ensembl chr 5:172,113,654...172,131,927 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 8:64,828,789...65,228,240
Ensembl chr 8:64,828,789...65,228,453 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:126,533,436...126,691,879
Ensembl chr 2:126,533,560...126,691,971 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr13:91,286,787...91,518,255
Ensembl chr13:91,286,645...91,511,490 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:176,194,255...176,212,258 		JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 9:1,038,103...1,055,063
Ensembl chr 9:1,038,103...1,048,868 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 More... NCBI chr10:105,095,336...105,112,037
Ensembl chr10:105,095,336...105,112,009 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 More... NCBI chr 8:74,334,556...74,361,313
Ensembl chr 8:74,335,053...74,361,268 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:23,490,422...23,519,599
Ensembl chr18:23,490,425...23,518,730 		JBrowse link
G Slc4a7 solute carrier family 4 member 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr15:13,015,854...13,095,485
Ensembl chr15:13,015,854...13,095,292 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 4:125,752,340...125,826,033
Ensembl chr 4:125,752,372...125,826,032 		JBrowse link
G Slc7a14 solute carrier family 7, member 14 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:113,993,781...114,099,810
Ensembl chr 2:113,993,785...114,099,804 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3342916 PMID:16612614 PMID:19878916 PMID:21618346 PMID:24302620 More... NCBI chr 3:134,882,173...134,911,512
Ensembl chr 3:134,882,173...134,911,500 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3646071 PMID:19268277 PMID:20104588 PMID:20301475 PMID:21310915 More... NCBI chr 6:123,609,519...123,655,001
Ensembl chr 6:123,609,535...123,655,001 		JBrowse link
G Spp2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:96,454,636...96,474,453
Ensembl chr 9:96,454,957...96,474,452 		JBrowse link
G Ssbp1 single stranded DNA binding protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 4:70,232,740...70,242,824
Ensembl chr 4:70,232,794...70,243,700 		JBrowse link
G Tead1 TEA domain transcription factor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:176,227,175...176,445,122
Ensembl chr 1:176,227,175...176,438,198 		JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:34448047 NCBI chr 1:216,621,365...216,627,497
Ensembl chr 1:216,621,376...216,626,519 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:68,027,481...68,066,731
Ensembl chr 9:68,030,664...68,063,525 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17924349 PMID:18509552 PMID:22581970 PMID:23950152 PMID:25741868 More... NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:60,182,035...60,194,706 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3333257 PMID:24033266 PMID:25193871 PMID:25741868 PMID:26494905 More... NCBI chr 4:141,236,937...141,259,700
Ensembl chr 4:141,236,979...141,259,698 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3378126 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19896109 More... NCBI chr 1:127,130,686...127,247,219
Ensembl chr 1:127,130,686...127,247,391 		JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:20159112 PMID:21334594 PMID:25741868 More... NCBI chr 4:51,279,562...51,355,030
Ensembl chr 4:51,279,563...51,355,030 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:18327258 PMID:21068128 PMID:21258341 PMID:23559409 PMID:24876116 More... NCBI chr 3:71,269,425...71,343,936
Ensembl chr 3:71,269,425...71,343,936 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:16308660 PMID:16877420 PMID:17576681 More... NCBI chr 6:123,927,657...124,025,354
Ensembl chr 6:123,927,907...123,982,117 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:24791901 PMID:25741868 PMID:27162334 PMID:28173158 More... NCBI chr 6:111,214,048...111,431,892
Ensembl chr 6:111,214,103...111,431,891 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:7719340 PMID:8602747 PMID:9463307 PMID:9588854 More... NCBI chr 5:38,294,415...38,315,471
Ensembl chr 5:38,292,665...38,315,804 		JBrowse link
G Tub TUB bipartite transcription factor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 1:172,386,772...172,465,791
Ensembl chr 1:172,382,197...172,465,790 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:128,594,052...128,628,789
Ensembl chr 3:128,595,380...128,625,953 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:31964843 NCBI chr 7:122,057,328...122,078,639
Ensembl chr 7:122,057,328...122,078,490 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2552515 PMID:3203739 PMID:8606774 PMID:9462750 PMID:9462751 More... NCBI chr20:6,413,901...6,425,833
Ensembl chr20:6,413,901...6,425,833 		JBrowse link
G Ubap1l ubiquitin associated protein 1-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 8:74,772,794...74,792,753
Ensembl chr 8:74,781,395...74,792,716 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 More... NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23591405 PMID:24033266 PMID:25741868 PMID:26878454 PMID:28492532 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:327072 PMID:1968399 PMID:2525289 PMID:2552515 PMID:2564938 More... NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Usp45 ubiquitin specific peptidase 45 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:31345219 NCBI chr 5:40,115,394...40,188,861
Ensembl chr 5:40,115,267...40,188,861 		JBrowse link
G Vcan versican ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:22,497,035...22,595,955
Ensembl chr 2:22,497,035...22,595,955 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:99,847,463...100,178,392
Ensembl chr14:99,847,632...100,200,287 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1161832 PMID:3126496 PMID:10679252 PMID:11161832 PMID:11244483 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:20352026 PMID:22277662 PMID:24033266 PMID:25741868 More... NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:90,195,485...90,235,675
Ensembl chr17:90,195,584...90,356,331 		JBrowse link
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30868567 NCBI chr19:35,282,149...35,580,775
Ensembl chr19:35,282,110...35,580,773 		JBrowse link
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:30,894,153...30,897,414
Ensembl chr 6:30,894,079...30,897,413 		JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:103,764,864...103,828,520
Ensembl chr 6:103,765,510...103,828,463 		JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:6897033 PMID:23716654 PMID:25741868 PMID:25882705 More... NCBI chr 3:98,071,210...98,077,075
Ensembl chr 3:98,072,568...98,077,196 		JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO
ISS 		DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome
ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome
OMIM:203800
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2440063 PMID:2871766 PMID:9063741 PMID:9409865 PMID:9536098 More... RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:119,683,076...119,783,471 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:69,813,265...69,819,973 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29255176 PMID:31696929 NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:11,692,980...11,751,421 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:96,150,292...96,196,883
Ensembl chr11:96,150,266...96,196,881 		JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:46,207,602...46,246,817
Ensembl chr 9:46,207,551...46,246,817 		JBrowse link
autosomal dominant vitreoretinochoroidopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | ClinVar Annotator: match by term: VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10737974 PMID:10798642 PMID:10854112 PMID:11585313 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
Bothnia retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rlbp1 retinaldehyde binding protein 1 ISO
ISS 		ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY
OMIM:607475
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2392416 PMID:9326942 PMID:10102298 PMID:10102299 PMID:11301032 More... NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:142,718,262...142,731,621 		JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism ClinVar PMID:16381338 PMID:25480730 PMID:25741868 PMID:28492532 PMID:28803024 NCBI chr  X:131,955,775...132,018,298
Ensembl chr  X:131,967,355...132,018,298 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2557489 PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631 		JBrowse link
Cone Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3182623 PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 More... NCBI chr 1:245,322,015...245,377,874
Ensembl chr 1:245,322,015...245,377,852 		JBrowse link
cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Late-onset cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy 		ClinVar PMID:2964157 PMID:3002862 PMID:9054934 PMID:9295268 PMID:9466990 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 NCBI chr17:90,114,250...90,156,286
Ensembl chr17:90,114,375...90,156,286 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:19409519 PMID:25741868 PMID:28492532 NCBI chr16:73,725,186...73,804,284
Ensembl chr16:73,725,114...73,804,646 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:15322546 PMID:16155189 PMID:16453322 PMID:25525159 PMID:25616960 More... NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:17,582,006...17,711,774 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:17594715 PMID:25741868 PMID:26047050 PMID:26077327 PMID:28492532 More... NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:119,683,076...119,783,471 		JBrowse link
G Arl6 ARF like GTPase 6 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:34828430 NCBI chr11:54,180,271...54,207,136
Ensembl chr11:54,181,241...54,210,813 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 More... NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:210,858,133...210,862,632 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30576320 PMID:30718709 PMID:33668843 More... NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:154,080,877...154,193,778 		JBrowse link
G Capn5 calpain 5 ISO ClinVar Annotator: match by term: Late-onset cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:161,827,474...161,884,142
Ensembl chr 1:161,827,474...161,884,142 		JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy 		ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23044944 PMID:23233793 More... NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,863,696...12,883,579 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:25741868 PMID:28492532 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 More... NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:222,674,194...222,702,120 		JBrowse link
G Cerkl CERK like autophagy regulator ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 More... NCBI chr 3:84,641,121...84,747,999
Ensembl chr 3:84,645,696...84,747,688 		JBrowse link
G Cfap20 cilia and flagella associated protein 20 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:35246562 NCBI chr19:9,614,265...9,628,612
Ensembl chr19:9,614,721...9,628,612 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:27596865 PMID:28492532 PMID:31456290 NCBI chr20:10,687,506...10,694,366
Ensembl chr20:10,687,506...10,694,366 		JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:25741868 NCBI chr 5:28,789,580...28,812,891
Ensembl chr 5:28,792,692...28,812,887 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:190,586,649...190,600,034
Ensembl chr 1:190,586,650...190,597,929 		JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:11536077 PMID:24033266 PMID:25741868 PMID:28492532 PMID:36909829 NCBI chr 9:46,943,353...46,989,862
Ensembl chr 9:46,928,810...46,989,862 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 More... NCBI chr 5:37,543,903...37,792,030
Ensembl chr 5:37,543,903...37,792,030 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO DNA:missense mutation:cds:p.C27F(c.80G¿¿¿>¿¿¿T)(human)
ClinVar Annotator: match by term: Cone-rod dystrophy 		ClinVar
RGD		 PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... RGD:13451130 NCBI chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy 		ClinVar PMID:9390563 PMID:9427255 PMID:9792858 PMID:10874321 PMID:10916183 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:85,667,971...85,681,852 		JBrowse link
G Dram2 DNA damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36909829 NCBI chr 2:196,724,052...196,752,645
Ensembl chr 2:196,723,858...196,755,103 		JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:20705278 PMID:20705279 PMID:24651477 PMID:25097241 PMID:25525159 More... NCBI chr14:101,210,694...101,256,020
Ensembl chr14:101,210,662...101,229,535 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:15060128 PMID:19370764 PMID:20301784 PMID:25741868 PMID:28492532 NCBI chr10:14,756,685...14,761,636 JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:15175914 More... NCBI chr10:54,453,753...54,478,639
Ensembl chr10:54,457,844...54,472,898 		JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:150,577,525...150,648,052
Ensembl chr 4:150,539,786...150,648,052 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:34906470 NCBI chr15:35,685,678...35,786,875
Ensembl chr15:35,688,927...35,781,634 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr11:57,787,914...57,887,450
Ensembl chr11:57,787,914...58,033,766 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25741868 More... NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:234,409,067...234,485,894
Ensembl chr 1:234,413,096...234,495,298 		JBrowse link
G Kiaa0586 KIAA0586 homolog ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr 6:95,358,682...95,461,911
Ensembl chr 6:95,358,619...95,462,148 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 2:170,562,148...170,571,212
Ensembl chr 2:170,565,543...170,571,148 		JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:10903341 PMID:12499395 PMID:12690102 PMID:16507637 PMID:16611215 More... NCBI chr18:62,689,798...62,691,685 JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:136,391,936...136,498,366
Ensembl chr 3:136,383,560...136,500,192 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:125,749,994...125,785,919 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 5:165,193,301...165,211,213
Ensembl chr 5:165,193,302...165,211,231 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr 8:69,261,343...69,269,081
Ensembl chr 8:69,261,343...69,269,081 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:11479594 PMID:12510040 PMID:16023068 PMID:28492532 NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:20398886 PMID:24339724 PMID:25741868 PMID:26496393 PMID:28492532 More... NCBI chr 6:29,469,232...29,478,541
Ensembl chr 6:29,469,817...29,478,541 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:30718709 NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,468,302...1,511,435 		JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:28492532 NCBI chr 1:245,322,015...245,377,874
Ensembl chr 1:245,322,015...245,377,852 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod degeneration 		ClinVar PMID:25741868 PMID:28492532 NCBI chr10:57,173,230...57,265,186
Ensembl chr10:57,175,721...57,265,291 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631 		JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 7:35,810,761...35,912,571
Ensembl chr 7:35,810,820...35,912,571 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:3181667 PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy 		ClinVar PMID:3441139 PMID:7493155 PMID:8015786 PMID:8111389 PMID:8302543 More... NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:23746546 PMID:25741868 PMID:28492532 PMID:36909829 NCBI chr14:73,458,386...73,535,367
Ensembl chr14:73,458,249...73,535,369 		JBrowse link
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr16:9,273,787...9,282,255
Ensembl chr16:9,273,787...9,282,646 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:24474277 More... NCBI chr 6:103,748,457...103,761,379
Ensembl chr 6:103,748,427...103,761,380 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:7981701 PMID:8088850 PMID:9380676 PMID:11139241 PMID:12871954 More... NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:28492532 NCBI chr 9:32,193,352...32,692,998
Ensembl chr 9:32,193,352...32,692,772 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:32581362 NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:251,425,368...251,457,156 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:30718709 NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:3007274 PMID:11528500 PMID:16272259 PMID:23105016 PMID:25741868 More... NCBI chr15:27,282,997...27,341,021
Ensembl chr15:27,282,998...27,341,021 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:28794130 NCBI chr 8:64,828,789...65,228,240
Ensembl chr 8:64,828,789...65,228,453 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:176,194,255...176,212,258 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:23847139 PMID:25741868 PMID:27735924 PMID:28492532 PMID:28559085 NCBI chr 3:134,882,173...134,911,512
Ensembl chr 3:134,882,173...134,911,500 		JBrowse link
G Ssbp1 single stranded DNA binding protein 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:31298765 PMID:31550237 PMID:36909829 NCBI chr 4:70,232,740...70,242,824
Ensembl chr 4:70,232,794...70,243,700 		JBrowse link
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:28041643 PMID:32581362 NCBI chr 1:225,559,528...225,747,106
Ensembl chr 1:225,576,872...225,747,108 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:16199547 PMID:24791901 PMID:25741868 PMID:27162334 PMID:28492532 More... NCBI chr 6:111,214,048...111,431,892
Ensembl chr 6:111,214,103...111,431,891 		JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:63,735,927...63,741,404
Ensembl chr10:63,735,777...63,741,404 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy 		ClinVar PMID:2564938 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 More... NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
cone-rod dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B ISO Retinal atrophy - Cone-rod dystrophy 1 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:30050836 PMID:38028226 More... NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,468,302...1,511,435 		JBrowse link
cone-rod dystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a semaphorin 4A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition 		OMIM
CTD
ClinVar		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:176,194,255...176,212,258 		JBrowse link
cone-rod dystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 12 ClinVar PMID:25741868 NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,863,696...12,883,579 		JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 12 ClinVar PMID:25741868 PMID:31497877 NCBI chr16:18,958,695...18,970,026
Ensembl chr16:18,957,956...18,969,970 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 12
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3181667 PMID:3442652 PMID:9634506 PMID:10205271 PMID:12657606 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
cone-rod dystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2426569 PMID:3007274 PMID:3442652 PMID:9536098 PMID:11283794 More... NCBI chr15:27,282,997...27,341,021
Ensembl chr15:27,282,998...27,341,021 		JBrowse link
cone-rod dystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:154,080,877...154,193,778 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 9:21,080,782...21,096,221
Ensembl chr 9:21,086,642...21,096,221 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:23885164 PMID:25741868 PMID:28492532 PMID:31180159 PMID:34426522 NCBI chr 1:234,409,067...234,485,894
Ensembl chr 1:234,413,096...234,495,298 		JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr 4:171,588,896...171,604,142
Ensembl chr 4:171,588,974...171,604,249 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:17936999 PMID:23484092 PMID:25741868 PMID:28492532 PMID:30977563 NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
cone-rod dystrophy 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: CDHR1-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 15 | ClinVar Annotator: match by term: Macular dystrophy, retinal, 5 | ClinVar Annotator: match by term: Retinitis pigmentosa 65 OMIM
ClinVar		 PMID:3511945 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20087419 More... NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,863,696...12,883,579 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 15 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:251,425,368...251,457,156 		JBrowse link
cone-rod dystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap418 cilia and flagella associated protein 418 ISO
ISS 		ClinVar Annotator: match by term: CFAP418-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 16 | ClinVar Annotator: match by term: Retinitis pigmentosa 64
OMIM:614500 		OMIM
ClinVar
MouseDO		 PMID:16199547 PMID:22177090 PMID:25515582 PMID:25741868 PMID:25802487 More... NCBI chr 5:28,789,580...28,812,891
Ensembl chr 5:28,792,692...28,812,887 		JBrowse link
cone-rod dystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab28 RAB28, member RAS oncogene family ISO
ISS 		ClinVar Annotator: match by term: Cone-rod dystrophy 18
OMIM:615374 		OMIM
ClinVar
MouseDO		 PMID:23746546 PMID:23806086 PMID:24088041 PMID:25356532 PMID:25741868 More... NCBI chr14:73,458,386...73,535,367
Ensembl chr14:73,458,249...73,535,369 		JBrowse link
cone-rod dystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 19 | ClinVar Annotator: match by term: TTLL5-related condition OMIM
ClinVar		 PMID:24791901 PMID:25741868 PMID:27162334 PMID:28173158 PMID:28492532 More... NCBI chr 6:111,214,048...111,431,892
Ensembl chr 6:111,214,103...111,431,891 		JBrowse link
cone-rod dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chr10:57,154,226...57,163,455
Ensembl chr10:57,154,226...57,163,455 		JBrowse link
G Crx cone-rod homeobox ISO
ISS 		ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2
OMIM:120970 		OMIM
ClinVar
MouseDO		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:85,667,971...85,681,852 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chr11:77,410,986...77,465,540
Ensembl chr11:77,410,314...77,465,478 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
cone-rod dystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 20 | ClinVar Annotator: match by term: POC1B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24945461 PMID:25018096 More... NCBI chr 7:35,810,761...35,912,571
Ensembl chr 7:35,810,820...35,912,571 		JBrowse link
cone-rod dystrophy 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dram2 DNA damage regulated autophagy modulator 2 ISO
ISS 		OMIM:616502
ClinVar Annotator: match by term: Cone-rod dystrophy 21 | ClinVar Annotator: match by term: DRAM2-related disorder 		OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:25983245 More... NCBI chr 2:196,724,052...196,752,645
Ensembl chr 2:196,723,858...196,755,103 		JBrowse link
cone-rod dystrophy 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tlcd3b TLC domain containing 3B ISO
ISS 		OMIM:619531
ClinVar Annotator: match by term: Cone-rod dystrophy 22 		OMIM
MouseDO
ClinVar		 PMID:33077892 NCBI chr 1:190,851,582...190,870,278
Ensembl chr 1:190,835,208...190,870,277 		JBrowse link
cone-rod dystrophy 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Cone-rod dystrophy 24 OMIM
ClinVar		 PMID:11006213 PMID:25741868 PMID:26992781 PMID:28492532 PMID:35947183 NCBI chr10:63,735,927...63,741,404
Ensembl chr10:63,735,777...63,741,404 		JBrowse link
cone-rod dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO
ISS 		ClinVar Annotator: match by term: Cone-rod dystrophy 3
OMIM:604116
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:248200 PMID:2984763 PMID:3002862 PMID:3196484 PMID:3230744 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO Retinal atrophy - Cone-rod dystrophy 3 OMIA PMID:20691256 PMID:20806078 PMID:22065099 PMID:38334230 NCBI chr16:73,725,186...73,804,284
Ensembl chr16:73,725,114...73,804,646 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Cone-rod dystrophy 3 ClinVar PMID:25741868 PMID:26261414 PMID:26306921 PMID:27032803 PMID:28492532 More... NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
cone-rod dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5 | ClinVar Annotator: match by term: PITPNM3-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8586428 PMID:17377520 PMID:20981092 PMID:22405330 PMID:22995991 More... NCBI chr10:57,173,230...57,265,186
Ensembl chr10:57,175,721...57,265,291 		JBrowse link
cone-rod dystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO
ISS 		ClinVar Annotator: match by term: Cone-rod dystrophy 6 | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY 2 | ClinVar Annotator: match by term: Retinal cone dystrophy 2
OMIM:601777
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3636964 PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 More... NCBI chr10:54,453,753...54,478,639
Ensembl chr10:54,457,844...54,472,898 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:25741868 NCBI chr 1:234,409,067...234,485,894
Ensembl chr 1:234,413,096...234,495,298 		JBrowse link
cone-rod dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 7 ClinVar PMID:9634506 PMID:12659814 PMID:18690027 PMID:23591405 PMID:25741868 More... NCBI chr 9:32,193,352...32,692,998
Ensembl chr 9:32,193,352...32,692,772 		JBrowse link
cone-rod dystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO
ISS 		ClinVar Annotator: match by term: ADAM9-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 9
OMIM:612775 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11581183 PMID:17576681 PMID:19409519 PMID:25091951 More... NCBI chr16:73,725,186...73,804,284
Ensembl chr16:73,725,114...73,804,646 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss ClinVar PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 More... NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:222,674,194...222,702,120 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: CEP78-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 OMIM
ClinVar		 PMID:3196484 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:222,674,194...222,702,120 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: CEP250-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 OMIM
ClinVar		 PMID:16199547 PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 More... NCBI chr 3:164,931,033...164,976,210
Ensembl chr 3:164,931,066...164,976,210 		JBrowse link
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cone-rod synaptic disorder syndrome, congenital nonprogressive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32470375 NCBI chr 7:72,133,004...72,644,059
Ensembl chr 7:72,133,170...72,645,499 		JBrowse link
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9536098 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15211651 More... NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574 		JBrowse link
fundus albipunctatus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfrp membrane frizzled-related protein ISS OMIM:136880 MouseDO NCBI chr 8:53,342,483...53,347,696
Ensembl chr 8:53,342,534...53,347,861 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds: 		OMIM
ClinVar
CTD
RGD		 PMID:3441139 PMID:3646071 PMID:8111389 PMID:8485575 PMID:8485576 More... RGD:8553223 NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 PMID:18048336 PMID:25526675 NCBI chr 7:1,912,120...1,931,836
Ensembl chr 7:1,925,335...1,936,049 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1418997 PMID:1484692 PMID:1833777 PMID:1862076 PMID:1882937 More... NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens
ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2392416 PMID:9326942 PMID:9536098 PMID:10102298 PMID:10102299 More... NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:142,718,262...142,731,621 		JBrowse link
Hardikar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome OMIM
ClinVar		 PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA | ClinVar Annotator: match by term: SCAPER-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28794130 PMID:32214227 NCBI chr 8:64,828,789...65,228,240
Ensembl chr 8:64,828,789...65,228,453 		JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:21670352 NCBI chr 8:53,347,754...53,349,912
Ensembl chr 8:53,347,711...53,349,912 		JBrowse link
G Mfrp membrane frizzled-related protein ISO DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human) OMIM
RGD		 PMID:19753314 RGD:11553925 NCBI chr 8:53,342,483...53,347,696
Ensembl chr 8:53,342,534...53,347,861 		JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 9:46,207,602...46,246,817
Ensembl chr 9:46,207,551...46,246,817 		JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:136,979,805...136,998,013 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:137,030,205...137,036,601 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:63,273,189...63,729,213 		JBrowse link
G Tfam transcription factor A, mitochondrial ISS OMIM:530000 MouseDO NCBI chr20:17,355,373...17,367,422
Ensembl chr20:17,355,363...17,369,877 		JBrowse link
Leber congenital amaurosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 14 ClinVar PMID:9973280 PMID:10958761 PMID:16546111 PMID:22589445 PMID:23755871 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO
ISS 		ClinVar Annotator: match by term: LRAT-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar Annotator: match by term: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
OMIM:613341
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:11381255 PMID:17011878 PMID:18055821 PMID:22025579 PMID:22559933 More... NCBI chr 2:170,562,148...170,571,212
Ensembl chr 2:170,565,543...170,571,148 		JBrowse link
Leber congenital amaurosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata7 spermatogenesis associated 7 ISO
ISS 		ClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onset | ClinVar Annotator: match by term: SPATA7-related disorder
OMIM:604232
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 More... NCBI chr 6:123,609,519...123,655,001
Ensembl chr 6:123,609,535...123,655,001 		JBrowse link
Macular Dystrophy with Central Cone Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Macular dystrophy with central cone involvement OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17564970 PMID:17576681 PMID:19177532 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:125,749,994...125,785,919 		JBrowse link
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cwc27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: CWC27-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10420199 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr 2:37,498,462...37,709,691
Ensembl chr 2:37,498,468...37,709,355 		JBrowse link
Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2 ARF like GTPase 2 ISO OMIM NCBI chr 1:212,863,422...212,875,425
Ensembl chr 1:212,863,423...212,875,373 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr 3:173,647,104...173,656,269
Ensembl chr 3:173,641,900...173,656,268 		JBrowse link
Myoectodermal Gonadal Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO OMIM NCBI chr 6:78,382,849...78,406,037
Ensembl chr 6:78,382,855...78,406,201 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: 46,XY agonadism with mental retardation, short stature, retarded bone age, and multiple extragenital malformations ClinVar PMID:25741868 PMID:34161696 NCBI chr  X:17,280,072...17,288,928
Ensembl chr  X:17,280,074...17,288,613 		JBrowse link
NARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:missense mutation:cds:m.8993T>G, p.L156R (human)
ClinVar Annotator: match by term: NARP syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:3612192 PMID:7668837 PMID:8190310 PMID:8395787 PMID:8554662 More... RGD:13825442 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,904...8,584 		JBrowse link
NEURODEGENERATION, EARLY-CHILDHOOD-ONSET, WITH RETINITIS PIGMENTOSA, SENSORINEURAL HEARING LOSS, AND DEMYELINATING PERIPHERAL NEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klc4 kinesin light chain 4 ISO ClinVar Annotator: match by term: Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy ClinVar
OMIM		 PMID:26423925 NCBI chr 9:21,834,765...21,848,676
Ensembl chr 9:21,835,092...21,848,675 		JBrowse link
Newfoundland cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2392416 PMID:9536098 PMID:10102298 PMID:10102299 PMID:11301032 More... NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:142,718,262...142,731,621 		JBrowse link
Oliver-McFarlane syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631 		JBrowse link
patterned macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691986 NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr 1:194,928,069...194,977,619
Ensembl chr 1:194,927,687...194,977,620 		JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:116,808,429...116,842,228
Ensembl chr 8:116,808,429...116,842,228 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Butterfly dystrophy of retinal pigment epithelium | ClinVar Annotator: match by term: MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G167D(human)
DNA:mutation:splice junction:
DNA:deletion,insertion:cds: 		ClinVar
CTD
RGD		 PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7825692 More... RGD:8553221, RGD:8554864, RGD:8553238, RGD:8553236 NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
patterned macular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO
ISS 		ClinVar Annotator: match by term: Patterned macular dystrophy 1
OMIM:169150 		OMIM
ClinVar
MouseDO		 PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7710395 More... NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
patterned macular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 ISO
ISS 		ClinVar Annotator: match by term: CTNNA1-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 2
OMIM:608970 		OMIM
ClinVar
MouseDO		 PMID:5442145 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26691986 More... NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007 		JBrowse link
patterned macular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: MAPKAPK3-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 3 OMIM
ClinVar		 PMID:25741868 PMID:26744326 PMID:28492532 NCBI chr 8:116,808,429...116,842,228
Ensembl chr 8:116,808,429...116,842,228 		JBrowse link
PHARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ABHD12-related condition | ClinVar Annotator: match by term: PHARC syndrome
OMIM:612674 		OMIM
CTD
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:20797687 PMID:23806086 PMID:24088041 More... NCBI chr 3:160,119,724...160,179,959
Ensembl chr 3:160,119,724...160,179,969 		JBrowse link
Reticular Dystrophy of Retinal Pigment Epithelium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IMP mRNA:increased expression:retinal pigmented epithelium (rat) RGD PMID:21266465 RGD:126925759 NCBI chr10:63,106,465...63,113,020
Ensembl chr10:63,106,475...63,112,817 		JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:21266465 RGD:126925759
retinal cone dystrophy 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Retinal cone dystrophy 3A
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15629837 PMID:22901948 PMID:25741868 PMID:27472364 PMID:27479814 More... NCBI chr 4:171,588,896...171,604,142
Ensembl chr 4:171,588,974...171,604,249 		JBrowse link
retinal cone dystrophy 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES | ClinVar Annotator: match by term: KCNV2-related condition | ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8333273 PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 More... NCBI chr 1:234,409,067...234,485,894
Ensembl chr 1:234,413,096...234,495,298 		JBrowse link
retinal cone dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: CACNA2D4-related condition | ClinVar Annotator: match by term: Retinal cone dystrophy 4
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17033974 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:154,080,877...154,193,778 		JBrowse link
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir204 microRNA 204 ISO OMIM NCBI chr 1:229,743,461...229,743,570
Ensembl chr 1:229,743,461...229,743,570 		JBrowse link
Retinal Dystrophy and Microvillus Inclusion Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease OMIM
ClinVar		 NCBI chr 1:217,940,697...218,114,865
Ensembl chr 1:217,909,169...218,110,466 		JBrowse link
Retinal Dystrophy and Obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tub TUB bipartite transcription factor ISO ClinVar Annotator: match by term: Retinal dystrophy and obesity | ClinVar Annotator: match by term: TUB-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 1:172,386,772...172,465,791
Ensembl chr 1:172,382,197...172,465,790 		JBrowse link
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1c activin A receptor type 1C IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 3:63,224,322...63,301,252
Ensembl chr 3:63,227,559...63,301,205 		JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 4:36,752,061...36,769,970
Ensembl chr 4:36,751,802...36,776,050 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 9:80,069,960...80,144,167
Ensembl chr 9:80,069,960...80,176,873 		JBrowse link
G Card9 caspase recruitment domain family, member 9 IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 3:29,569,907...29,578,402
Ensembl chr 3:29,569,959...29,578,402 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969 		JBrowse link
G Crh corticotropin releasing hormone IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:104,058,770...104,061,386 		JBrowse link
G Fcgr1a Fc gamma receptor 1A IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 2:186,539,941...186,548,941
Ensembl chr 2:186,539,942...186,548,858 		JBrowse link
G Inhba inhibin subunit beta A IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr17:53,787,159...53,810,942
Ensembl chr17:53,791,444...53,804,508 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities OMIM
ClinVar		 PMID:24026677 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr15:54,955,549...54,978,455
Ensembl chr15:54,955,552...54,978,455 		JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 9:5,742,683...6,182,445
Ensembl chr 9:5,742,683...6,182,445 		JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 5:147,172,642...147,201,267
Ensembl chr 5:147,172,642...147,201,267 		JBrowse link
G Pf4 platelet factor 4 IEP associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr14:17,582,477...17,583,392
Ensembl chr14:17,582,477...17,583,392 		JBrowse link
G Phlda1 pleckstrin homology-like domain, family A, member 1 IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 7:48,853,690...48,855,894
Ensembl chr 7:48,853,260...48,857,542 		JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr13:52,147,717...52,259,810
Ensembl chr13:52,147,717...52,259,746 		JBrowse link
G Sh3rf1 SH3 domain containing ring finger 1 IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr16:33,746,396...33,912,127
Ensembl chr16:33,746,396...33,912,153 		JBrowse link
G Tbx5 T-box transcription factor 5 IEP associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr12:42,342,926...42,399,723
Ensembl chr12:42,348,485...42,395,359 		JBrowse link
G Vdr vitamin D receptor IEP associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:130,866,745...130,916,757 		JBrowse link
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: RCBTB1-related condition | ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES | ClinVar Annotator: match by term: Retinal dystrophy with or without extraocular anomalies OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26908610 PMID:27486781 More... NCBI chr15:37,430,453...37,477,920
Ensembl chr15:37,435,070...37,480,803 		JBrowse link
Retinal Dystrophy with or without Macular Staphyloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: CFAP410-related condition | ClinVar Annotator: match by term: Retinal dystrophy with or without macular staphyloma OMIM
ClinVar		 PMID:3203609 PMID:9536098 PMID:11702989 PMID:16199547 PMID:17576681 More... NCBI chr20:10,687,506...10,694,366
Ensembl chr20:10,687,506...10,694,366 		JBrowse link
Retinal Dystrophy, Early Onset Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe ClinVar PMID:9973280 PMID:10958761 PMID:16546111 PMID:22589445 PMID:23755871 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe ClinVar PMID:17594715 PMID:18414213 PMID:22876109 PMID:25741868 PMID:25846608 More... NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:119,683,076...119,783,471 		JBrowse link
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome OMIM
ClinVar		 PMID:23189188 PMID:25741868 PMID:28492532 NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:245,306,349...245,313,898 		JBrowse link
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rdh11 retinol dehydrogenase 11 ISO OMIM NCBI chr 6:103,712,373...103,728,247
Ensembl chr 6:103,712,374...103,729,741 		JBrowse link
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha-kinase 1 ISO ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 More... NCBI chr 2:218,801,425...218,924,013
Ensembl chr 2:218,780,189...218,921,646 		JBrowse link
retinitis pigmentosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 susceptibility ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:248200 PMID:2964157 PMID:3002862 PMID:3105428 PMID:3309071 More... RGD:1598552, RGD:8547535 NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:160,119,724...160,179,959
Ensembl chr 3:160,119,724...160,179,969 		JBrowse link
G Acan aggrecan treatment ISO RGD PMID:25646031 RGD:11570529 NCBI chr 1:142,390,951...142,453,779
Ensembl chr 1:142,390,951...142,453,779 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:26261414 PMID:28492532 PMID:31456290 NCBI chr16:73,725,186...73,804,284
Ensembl chr16:73,725,114...73,804,646 		JBrowse link
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:32483926 NCBI chr19:58,596,095...58,749,239
Ensembl chr19:58,597,761...58,749,138 		JBrowse link
G Adgra3 adhesion G protein-coupled receptor A3 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:23105016 PMID:25741868 PMID:26355662 PMID:28492532 PMID:30718709 NCBI chr14:65,085,418...65,188,949
Ensembl chr14:65,087,380...65,188,959 		JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16199547 PMID:18414213 PMID:19357117 PMID:22135276 PMID:22147658 More... NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:26662040 PMID:27655171 NCBI chr13:48,411,438...48,431,251
Ensembl chr13:48,411,826...48,431,255 		JBrowse link
G Agbl5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:31725702 PMID:34906470 NCBI chr 6:31,192,281...31,213,494
Ensembl chr 6:31,191,635...31,210,676 		JBrowse link
G Agtpbp1 ATP/GTP binding carboxypeptidase 1 ISS MouseDO NCBI chr17:5,092,108...5,244,414
Ensembl chr17:5,126,146...5,244,420 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:15322546 PMID:16453322 PMID:17576681 PMID:21866095 More... NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:17,582,006...17,711,774 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 treatment IEP protein:increased expression:nucleus: RGD PMID:23951212 RGD:10053563 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:132,528,107...132,567,237 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 treatment ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:3257969 PMID:3442652 PMID:10615133 PMID:10873396 PMID:11139241 More... RGD:8696011 NCBI chr10:57,154,226...57,163,455
Ensembl chr10:57,154,226...57,163,455 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:17594715 PMID:25706677 PMID:25741868 PMID:25846608 PMID:28492532 More... NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:119,683,076...119,783,471 		JBrowse link
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:28492532 NCBI chr12:6,192,958...6,300,997
Ensembl chr12:6,128,661...6,300,997 		JBrowse link
G Arl2bp ARF like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:23849777 PMID:25741868 PMID:27790702 PMID:31425546 PMID:36909829 NCBI chr19:10,342,895...10,352,529
Ensembl chr19:10,342,895...10,352,514 		JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:33748123 NCBI chr 1:255,342,078...255,388,087
Ensembl chr 1:255,342,076...255,388,279 		JBrowse link
G Arl6 ARF like GTPase 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		CTD
ClinVar		 PMID:15314642 PMID:17160889 PMID:19236846 PMID:19956407 PMID:20177705 More... NCBI chr11:54,180,271...54,207,136
Ensembl chr11:54,181,241...54,210,813 		JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr13:85,460,312...85,639,959
Ensembl chr13:85,462,840...85,640,033 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:9536098 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 More... NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:211,615,533...211,633,468 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16582908 PMID:20120035 PMID:20498079 PMID:20805367 PMID:20876674 More... NCBI chr 7:48,637,324...48,640,395
Ensembl chr 7:48,637,356...48,640,391 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:17160889 PMID:20120035 PMID:20498079 PMID:20648243 PMID:21463199 More... NCBI chr 2:122,131,550...122,149,152
Ensembl chr 2:122,137,856...122,149,153 		JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:9536098 PMID:11285252 PMID:11567139 PMID:17576681 PMID:19402160 More... NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,915,476...10,950,921 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:11381270 PMID:12016587 PMID:20177705 PMID:25741868 PMID:27894351 More... NCBI chr 8:68,627,739...68,661,232
Ensembl chr 8:68,627,656...68,661,358 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 2:121,362,884...121,402,473
Ensembl chr 2:121,362,885...121,402,473 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:29,289,997...29,713,880 		JBrowse link
G Bcan brevican severity ISO RGD PMID:29150673 RGD:14392802 NCBI chr 2:175,752,333...175,765,766
Ensembl chr 2:175,752,336...175,765,314 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:9536098 PMID:10453731 PMID:10798642 PMID:10854112 PMID:11713080 More... RGD:8547535 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Ca4 carbonic anhydrase 4 susceptibility ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:7581389 PMID:9385361 PMID:9536098 PMID:15090652 PMID:15295099 More... RGD:1600730 NCBI chr10:70,325,102...70,333,916
Ensembl chr10:70,325,358...70,333,916 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 PMID:34906470 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:154,080,877...154,193,778 		JBrowse link
G Casp7 caspase 7 ISO RGD PMID:23470535 RGD:8548491 NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:265,442,676...265,482,512 		JBrowse link
G Cat catalase ISO RGD PMID:19293779 RGD:8158049 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		JBrowse link
G Ccdc66 coiled-coil domain containing 66 ISS OMIM:268000 MouseDO NCBI chr16:2,668,810...2,700,717
Ensembl chr16:2,658,131...2,701,012 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar
RGD		 PMID:17850630 PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 More... RGD:8547536 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:26306921 PMID:28492532 NCBI chr19:51,303,414...51,353,900
Ensembl chr19:51,300,083...51,354,257 		JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:17576681 PMID:20805371 PMID:23044944 PMID:23591405 More... NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,863,696...12,883,579 		JBrowse link
G Cep250 centrosomal protein 250 ISS MouseDO NCBI chr 3:164,931,033...164,976,210
Ensembl chr 3:164,931,066...164,976,210 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 More... NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:222,674,194...222,702,120 		JBrowse link
G Cerkl CERK like autophagy regulator susceptibility ISO DNA:mutation:exon
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:9536098 PMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 More... RGD:1600829, RGD:1600829 NCBI chr 3:84,641,121...84,747,999
Ensembl chr 3:84,645,696...84,747,688 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:23105016 PMID:25741868 PMID:26167768 PMID:26974433 PMID:27596865 More... NCBI chr20:10,687,506...10,694,366
Ensembl chr20:10,687,506...10,694,366 		JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		CTD
ClinVar
MouseDO		 PMID:22177090 PMID:25515582 PMID:25741868 PMID:25802487 PMID:26355662 More... NCBI chr 5:28,789,580...28,812,891
Ensembl chr 5:28,792,692...28,812,887 		JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9067750 PMID:10420196 PMID:19422966 PMID:23811034 PMID:25525159 More... NCBI chr  X:82,395,463...82,554,249
Ensembl chr  X:82,396,816...82,568,642 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:7553855 PMID:9004140 PMID:9311735 PMID:9392580 PMID:9536098 More... NCBI chr 1:190,586,649...190,600,034
Ensembl chr 1:190,586,650...190,597,929 		JBrowse link
G Clrn1 clarin 1 IAGP
ISO 		ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 More... RGD:634439, RGD:8547535 NCBI chr 2:145,233,941...145,280,855
Ensembl chr 2:145,233,941...145,280,855 		JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:7479749 PMID:12362048 PMID:16199547 PMID:18310263 PMID:23462753 More... RGD:1300380, RGD:8547535 NCBI chr14:35,920,948...35,959,065
Ensembl chr14:35,926,854...35,959,056 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:3384701 PMID:3442652 PMID:9536098 PMID:11379879 PMID:15557452 More... RGD:734793, RGD:8547535 NCBI chr19:9,732,646...9,798,864
Ensembl chr19:9,732,646...9,797,224 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 More... NCBI chr 5:37,543,903...37,792,030
Ensembl chr 5:37,543,903...37,792,030 		JBrowse link
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 More... NCBI chr 9:46,207,602...46,246,817
Ensembl chr 9:46,207,551...46,246,817 		JBrowse link
G Cntf ciliary neurotrophic factor disease_progression IEP associated with lens injury RGD PMID:24558606 RGD:40818112 NCBI chr 1:219,312,512...219,314,535
Ensembl chr 1:219,312,512...219,314,488 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28041643 NCBI chr20:11,473,645...11,582,111
Ensembl chr20:11,473,645...11,582,112 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:33084234 NCBI chr 1:91,653,241...91,676,822
Ensembl chr 1:91,654,225...91,676,819 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 susceptibility ISO DNA:missense mutations
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation:cds:multiple 		ClinVar
CTD
RGD		 PMID:3105428 PMID:9536098 PMID:10508521 PMID:11231775 PMID:11389483 More... RGD:1600966, RGD:8552697 NCBI chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO
ISS 		OMIM:268000 MouseDO
RGD		 PMID:24493795 RGD:8552786 NCBI chr 3:41,946,694...41,974,629
Ensembl chr 3:41,947,325...41,974,629 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:2098109 PMID:9427255 PMID:9792858 PMID:10766140 PMID:10916183 More... RGD:8547535 NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:85,667,971...85,681,852 		JBrowse link
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16141006 PMID:25741868 NCBI chr11:91,711,755...91,716,858
Ensembl chr11:91,711,755...91,716,858 		JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISS
ISO 		ClinVar Annotator: match by term: Retinitis pigmentosa MouseDO
ClinVar		 PMID:9536098 PMID:10420199 PMID:17576681 PMID:28285769 PMID:28492532 NCBI chr 2:37,498,462...37,709,691
Ensembl chr 2:37,498,468...37,709,355 		JBrowse link
G Cygb cytoglobin ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:9536098 PMID:16199547 PMID:16938425 PMID:17576681 PMID:20507925 More... NCBI chr10:102,376,506...102,386,272
Ensembl chr10:102,376,507...102,386,272 		JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24480711 PMID:25741868 PMID:28041643 PMID:28051075 PMID:28492532 More... NCBI chr16:53,650,978...53,675,916
Ensembl chr16:53,650,569...53,676,746 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:21295282 PMID:21295283 PMID:22110072 PMID:23590195 PMID:24033266 More... NCBI chr 5:151,482,139...151,508,248
Ensembl chr 5:151,481,429...151,508,129 		JBrowse link
G Dhx38 DEAH-box helicase 38 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa 		CTD
ClinVar		 PMID:25741868 PMID:30208423 NCBI chr19:54,422,418...54,439,434
Ensembl chr19:54,422,418...54,439,423 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:23456818 PMID:28492532 PMID:32753734 PMID:34321860 PMID:35893076 NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:12,473,955...12,697,058 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:20005906 RGD:8661800 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa 		ClinVar PMID:23105016 PMID:25741868 PMID:28492532 NCBI chr 5:156,891,773...156,917,092
Ensembl chr 5:156,891,773...156,917,092 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISS
ISO 		ClinVar Annotator: match by term: Syndromic retinitis pigmentosa MouseDO
ClinVar		 NCBI chr18:73,679,106...73,776,694
Ensembl chr18:73,679,116...73,776,677 		JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:10507729 PMID:20705278 PMID:20705279 PMID:23167750 PMID:23591405 More... NCBI chr14:101,210,694...101,256,020
Ensembl chr14:101,210,662...101,229,535 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 treatment IDA RGD PMID:11319911 RGD:12801430 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:25741868 PMID:26467025 More... NCBI chr13:105,117,402...105,139,780
Ensembl chr13:105,117,402...105,139,759 		JBrowse link
G Fscn2 fascin actin-bundling protein 2, retinal ISO RGD PMID:11527955 RGD:1598962 NCBI chr10:106,121,038...106,139,683
Ensembl chr10:106,133,144...106,139,683 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:216,051,998...216,055,214 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:26179960 PMID:27362913 PMID:28492532 NCBI chr 1:237,296,753...237,375,620
Ensembl chr 1:237,296,753...237,375,604 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 PMID:34906470 NCBI chr 8:117,229,575...117,234,311
Ensembl chr 8:117,229,575...117,234,311 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 More... NCBI chr 6:102,687,405...103,216,679
Ensembl chr 6:102,687,423...103,216,674 		JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 PMID:32483926 NCBI chr10:82,820,954...82,836,833
Ensembl chr10:82,821,113...82,836,833 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP protein:decreased expression:outer plexiform layer of retina (rat) RGD PMID:11925013 RGD:13432034 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:170,322,617...170,773,570 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr 9:21,080,782...21,096,221
Ensembl chr 9:21,086,642...21,096,221 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:15452722 PMID:15505030 PMID:22025579 PMID:25741868 PMID:26161267 More... RGD:8547535 NCBI chr 9:21,097,274...21,105,107
Ensembl chr 9:21,097,274...21,105,107 		JBrowse link
G Gucy2e guanylate cyclase 2E susceptibility ISO DNA:mutation:exon
ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:10676808 PMID:10951519 PMID:11115851 PMID:11328726 PMID:11565546 More... RGD:1599624 NCBI chr10:54,453,753...54,478,639
Ensembl chr10:54,457,844...54,472,898 		JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:vitreous humor: RGD PMID:20053975 RGD:8548602 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:17033958 PMID:19479962 PMID:19823584 PMID:20583299 PMID:25741868 More... NCBI chr16:72,807,967...72,840,180
Ensembl chr16:72,807,849...72,840,176 		JBrowse link
G Hk1 hexokinase 1 ISO DNA:mutation:cds:c.2539G>A,p.Glu847Lys(human)
ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:30778173 PMID:31785789 PMID:34448047 More... RGD:13673896 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28058510 PMID:28412069 PMID:28492532 PMID:31456290 More... NCBI chr 8:63,867,882...63,887,223
Ensembl chr 8:63,867,820...63,887,223 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 		CTD
ClinVar		 PMID:16199547 PMID:18806796 PMID:25741868 PMID:28492532 NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:137,934,697...137,940,107 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:3196484 PMID:16199547 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,537,466...14,624,926 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:34906470 NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:30,801,918...30,840,830 		JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr12:39,618,559...39,697,971
Ensembl chr12:39,618,651...39,697,962 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr15:35,685,678...35,786,875
Ensembl chr15:35,688,927...35,781,634 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO DNA:missense mutation: :p.D226N, p.V268I (human)
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.R224P (human)
human gene in mouse model 		ClinVar
CTD
RGD		 PMID:11875050 PMID:14981049 PMID:16199547 PMID:16384941 PMID:20045992 More... RGD:1599608, RGD:5144221, RGD:5144134 NCBI chr 4:58,767,230...58,782,825
Ensembl chr 4:58,767,230...58,783,124 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16199547 PMID:23993198 PMID:25741868 PMID:28492532 PMID:32817297 More... NCBI chr 8:90,123,821...90,269,903
Ensembl chr 8:90,123,821...90,269,903 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:3253185 PMID:9536098 PMID:17576681 PMID:20673862 PMID:22277662 More... NCBI chr11:57,787,914...57,887,450
Ensembl chr11:57,787,914...58,033,766 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:22261762 PMID:22773737 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr11:77,410,986...77,465,540
Ensembl chr11:77,410,314...77,465,478 		JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr 3:84,569,487...84,646,276
Ensembl chr 3:84,560,369...84,641,039 		JBrowse link
G Itprid2 ITPR interacting domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:28041643 NCBI chr 3:84,943,572...84,980,993
Ensembl chr 3:84,939,808...84,980,899 		JBrowse link
G Kiaa1549 KIAA1549 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 4:67,807,635...67,935,303
Ensembl chr 4:67,811,803...67,935,360 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar PMID:25741868 PMID:32214227 PMID:34906470 NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:244,494,875...244,589,250 		JBrowse link
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24680887 PMID:25741868 PMID:28166811 PMID:28492532 PMID:28837078 More... NCBI chr 3:154,730,873...154,838,410
Ensembl chr 3:154,730,634...154,838,410 		JBrowse link
G Kl Klotho ISO
IEP 		protein:increased expression:retina,photoreceptor,nucleus: RGD PMID:23796581 PMID:23796581 RGD:10403060, RGD:10403060 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015 		JBrowse link
G Klb klotho beta ISO protein:increased expression:outer nuclear layer: RGD PMID:23796581 RGD:10403060 NCBI chr14:43,253,963...43,304,532
Ensembl chr14:43,253,255...43,304,515 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:19520207 PMID:20547956 PMID:21828050 PMID:25741868 PMID:27160483 More... NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,609,004...12,054,707 		JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:17546029 PMID:23946133 PMID:24265693 PMID:25741868 PMID:28492532 More... NCBI chr 8:93,187,735...93,255,060
Ensembl chr 8:93,197,702...93,254,991 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO early-onset severe retinal dystrophy, OMIM:604863
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:22025579 PMID:25324289 PMID:25741868 PMID:26355662 PMID:28492532 More... RGD:1599754, RGD:8547535 NCBI chr 2:170,562,148...170,571,212
Ensembl chr 2:170,565,543...170,571,148 		JBrowse link
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16199547 PMID:21148103 PMID:21825139 PMID:21835304 PMID:24938718 More... NCBI chr17:23,889,417...23,936,857
Ensembl chr17:23,889,516...23,936,855 		JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		CTD
ClinVar		 PMID:9536098 PMID:11062461 PMID:11592982 PMID:15111602 PMID:16199547 More... NCBI chr 3:136,391,936...136,498,366
Ensembl chr 3:136,383,560...136,500,192 		JBrowse link
G Mfrp membrane frizzled-related protein ISO DNA:deletio:exon:c.498delC(P.166PfsX26)(human) RGD PMID:22605927 RGD:11553921 NCBI chr 8:53,342,483...53,347,696
Ensembl chr 8:53,342,534...53,347,861 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:125,749,994...125,785,919 		JBrowse link
G Mt2 metallothionein 2 IEP
ISO 		mRNA:increased expression:retina (rat)
mRNA:increased expression:retina (mouse) 		RGD PMID:20357188 PMID:20357188 RGD:6483819, RGD:6483819 NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,837,927...10,838,709 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:8900236 PMID:10094549 PMID:19074810 PMID:24033266 PMID:25404053 More... RGD:8547536 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Ngf nerve growth factor IEP protein:decreased expression:lacrimal gland RGD PMID:20595895 RGD:4891133 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:192,589,582...192,643,834 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:34906470 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:168,271,073...168,358,242 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:9536098 PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 More... NCBI chr 8:69,261,343...69,269,081
Ensembl chr 8:69,261,343...69,269,081 		JBrowse link
G Nrl neural retina leucine zipper ISO DNA:missense mutation:cds:p.S50L (human)
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:10192380 PMID:12796249 PMID:15591106 PMID:17335001 PMID:23534816 More... RGD:1580991 NCBI chr15:32,977,023...32,981,442
Ensembl chr15:32,977,035...32,981,442 		JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr  X:11,953,680...11,974,716
Ensembl chr  X:11,953,018...11,974,810 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO DNA, mRNA:frameshift mutation, splice variant:IVS9+706A>G (human) RGD PMID:22619378 RGD:11535961 NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:33841295 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Or4f5 olfactory receptor family 4 subfamily F member 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 3:118,530,958...118,535,514 JBrowse link
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 PMID:31456290 NCBI chr11:88,139,086...88,280,221
Ensembl chr11:88,139,078...88,281,203 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:11479594 PMID:12510040 PMID:15659606 PMID:15834858 PMID:16272150 More... NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa with macular involvement 		ClinVar PMID:3196484 PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 More... NCBI chr 6:29,469,232...29,478,541
Ensembl chr 6:29,469,817...29,478,541 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 More... RGD:8547536 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Pde6a phosphodiesterase 6A ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:3196484 PMID:7493036 PMID:10393062 PMID:16199547 PMID:17110911 More... RGD:8547535 NCBI chr18:56,947,249...57,019,015
Ensembl chr18:56,947,249...57,019,015 		JBrowse link
G Pde6b phosphodiesterase 6B ISO
ISS
IMP 		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
compared to wild-type
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:3145629 PMID:3203739 PMID:3253185 PMID:7724547 PMID:8394174 More... RGD:8657407, RGD:40924664 NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,468,302...1,511,435 		JBrowse link
G Pde6bem1Baek phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek IMP compared to wild-type RGD PMID:31009522 RGD:40924664
G Pde6g phosphodiesterase 6G ISO
ISS 		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		MouseDO
ClinVar
CTD
RGD		 PMID:20655036 PMID:25741868 PMID:28492532 PMID:23701314 RGD:8547535 NCBI chr10:106,219,849...106,224,496
Ensembl chr10:106,219,849...106,224,496 		JBrowse link
G Phf3 PHD finger protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:3442652 PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 More... NCBI chr 9:40,559,929...40,632,096
Ensembl chr 9:40,559,929...40,632,056 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:1155634 PMID:9326939 PMID:9326940 PMID:9657395 PMID:10767344 More... NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:8586428 PMID:17377520 PMID:20981092 PMID:22405330 PMID:22995991 More... NCBI chr10:57,173,230...57,265,186
Ensembl chr10:57,175,721...57,265,291 		JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar PMID:29272404 NCBI chr 2:29,454,392...29,483,468
Ensembl chr 2:29,454,272...29,485,309 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9425237 PMID:9664077 PMID:10191107 PMID:10477428 PMID:10649502 More... NCBI chr 5:140,406,318...140,427,201
Ensembl chr 5:140,406,214...140,427,200 		JBrowse link
G Prkcg protein kinase C, gamma ISO RGD PMID:9545390 RGD:737791 NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:74,748,272...74,774,814 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:3442652 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:11773002 PMID:15085354 PMID:17932117 PMID:20309403 PMID:20811066 More... RGD:1599535 NCBI chr 2:186,067,980...186,092,427
Ensembl chr 2:186,067,162...186,092,427 		JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:3071870 PMID:3253185 PMID:16199547 PMID:16799052 PMID:18317597 More... RGD:8547535 NCBI chr 1:74,491,247...74,502,922
Ensembl chr 1:74,491,247...74,502,922 		JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:31456290 NCBI chr 3:189,084,465...189,148,705
Ensembl chr 3:189,081,794...189,152,786 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:9536098 PMID:11468273 PMID:12714658 PMID:16799052 PMID:17576681 More... RGD:1599210, RGD:8547535 NCBI chr10:60,829,778...60,852,887
Ensembl chr10:60,829,778...60,852,887 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
DNA:mutation:cds:p.V200E(human)
DNA:mutation:cds:p.N244K(human)
DNA:polymorphism:cds:p.F211L(human)
DNA:polymprphism:cds:p.P216L(mouse)
DNA:deletion,missense mutations:cds:p.P216L,L185P(human)
DNA:polymorphism:exon:p.E304Q,G338D(human)
DNA:polymprphism: :p.P216L(human)
DNA:polymorphism:: c.389T>C (p.L130P)(human) 		ClinVar
RGD		 PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7754251 More... RGD:8547535, RGD:8554861, RGD:8554860, RGD:8553237, RGD:8553235, RGD:8553234, RGD:8553222, RGD:8553218, RGD:8553216, RGD:8553188 NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO DNA:missense mutation:exon:p.S16P (human) RGD PMID:25491489 RGD:11056008 NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:108,920,651...108,942,711 		JBrowse link
G Pten phosphatase and tensin homolog onset IEP mRNA:increased expression:retina (rat) RGD PMID:22432009 RGD:12802340 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:240,043,707...240,110,330 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr14:73,458,386...73,535,367
Ensembl chr14:73,458,249...73,535,369 		JBrowse link
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9614228 PMID:19074801 PMID:21067480 PMID:23105016 PMID:23486466 More... RGD:8547535 NCBI chr16:9,273,787...9,282,255
Ensembl chr16:9,273,787...9,282,646 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:27486781 PMID:28492532 NCBI chr15:37,430,453...37,477,920
Ensembl chr15:37,435,070...37,480,803 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:15258582 PMID:15322982 PMID:16269441 PMID:16968212 PMID:17389517 More... RGD:8547535 NCBI chr 6:103,748,457...103,761,379
Ensembl chr 6:103,748,427...103,761,380 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16199547 PMID:25741868 PMID:27889058 PMID:28492532 PMID:29120066 NCBI chr 7:10,024,601...10,031,507
Ensembl chr 7:10,024,602...10,031,740 		JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:10581022 PMID:16968212 PMID:22995991 PMID:24265693 PMID:25741868 More... RGD:1599623 NCBI chr16:12,821,858...12,836,665
Ensembl chr16:12,821,858...12,836,486 		JBrowse link
G Rho rhodopsin treatment ISO DNA:point mutation:exon:P23H, P347L, P347S, T58R
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.C110Y (human)
DNA:missense mutations:cds:505G>C (p.A169P), 1040C>A (p.P347Q) (human)
DNA:missense mutation: :p.Y110C (mouse)
DNA:missense mutation:cds:c.448G>A (p.E150K) (human)
DNA:missense mutation: :p.T17M (human)
DNA:missense mutation:cds:c.233A>T (p.N78I) (human)
DNA:deletion:exon:c.614_622del (p.Y206_F208del) (human) 		ClinVar
CTD
RGD		 PMID:1301135 PMID:1303237 PMID:1484692 PMID:1580841 PMID:1765377 More... RGD:1601619, RGD:8548552, RGD:8548543, RGD:8548518, RGD:8548516, RGD:8548515, RGD:8548514, RGD:8548513, RGD:8548512, RGD:8548491, RGD:8548490, RGD:8547992, RGD:8547991, RGD:8547535 NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:32483926 NCBI chr 9:32,193,352...32,692,998
Ensembl chr 9:32,193,352...32,692,772 		JBrowse link
G Ripk1 receptor interacting serine/threonine kinase 1 ISO RGD PMID:22908283 RGD:7777166 NCBI chr17:31,044,983...31,077,167
Ensembl chr17:31,044,994...31,077,167 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO RGD PMID:22908283 RGD:7777166 NCBI chr15:33,253,071...33,262,025
Ensembl chr15:33,253,071...33,262,025 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO bothnia dystrophy, OMIM:180090
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:2392416 PMID:9326942 PMID:9536098 PMID:10102298 PMID:10102299 More... RGD:1599618, RGD:8547535 NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:142,718,262...142,731,621 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa 		CTD
ClinVar		 PMID:3442652 PMID:7904211 PMID:8202715 PMID:8595413 PMID:9187681 More... NCBI chr 1:215,253,155...215,255,163
Ensembl chr 1:215,253,159...215,255,163 		JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar
RGD		 PMID:3253185 PMID:9536098 PMID:10484783 PMID:10845615 PMID:11095597 More... RGD:8547535 NCBI chr 5:19,918,728...20,380,811
Ensembl chr 5:19,918,799...20,377,580 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:3158961 PMID:22277662 PMID:25324289 PMID:25741868 PMID:26355662 More... NCBI chr15:42,435,803...42,447,165
Ensembl chr15:42,435,803...42,447,165 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar
RGD		 PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 PMID:10634633 More... RGD:1599605 NCBI chr  X:4,426,071...4,470,200
Ensembl chr  X:4,403,052...4,530,576 		JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:1479605 PMID:3181667 PMID:12032732 PMID:15474994 PMID:15541726 More... NCBI chr 8:29,218,564...29,281,211
Ensembl chr 8:29,217,346...29,281,150 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 treatment ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.D477G (human) 		ClinVar
CTD
RGD		 PMID:4492281 PMID:9326941 PMID:9501220 PMID:9843205 PMID:10090910 More... RGD:8547535, RGD:9585650, RGD:9585645 NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:251,425,368...251,457,156 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:288634 PMID:3214136 PMID:7611300 PMID:8673101 PMID:8817343 More... RGD:1599602, RGD:8547535, RGD:1599600, RGD:1599605 NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:11528500 PMID:16272259 PMID:23105016 PMID:24516651 PMID:25741868 More... RGD:1599581 NCBI chr15:27,282,997...27,341,021
Ensembl chr15:27,282,998...27,341,021 		JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9452120 PMID:9501883 PMID:9536098 PMID:9565049 PMID:15234147 More... RGD:8547535 NCBI chr 9:95,915,640...95,956,641
Ensembl chr 9:95,917,197...95,956,507 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:34906470 NCBI chr 5:172,113,900...172,142,026
Ensembl chr 5:172,113,654...172,131,927 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar PMID:28794130 PMID:32214227 NCBI chr 8:64,828,789...65,228,240
Ensembl chr 8:64,828,789...65,228,453 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:176,194,255...176,212,258 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human gene in a rat model RGD PMID:18837062 RGD:8554900 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,748,506...60,760,898 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 More... NCBI chr 8:74,334,556...74,361,313
Ensembl chr 8:74,335,053...74,361,268 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISS OMIM:268000 MouseDO NCBI chr 4:125,752,340...125,826,033
Ensembl chr 4:125,752,372...125,826,032 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO DNA:missense mutation:cds:p.S1087V (human)
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
DNA:missense mutation:cds:p.R1090L (human) 		ClinVar
RGD		 PMID:9536098 PMID:16612614 PMID:17576681 PMID:19878916 PMID:21618346 More... RGD:10448279, RGD:10448280 NCBI chr 3:134,882,173...134,911,512
Ensembl chr 3:134,882,173...134,911,500 		JBrowse link
G Sod1 superoxide dismutase 1 severity ISO human gene in a mouse model RGD PMID:21736939 PMID:19293779 RGD:8655617, RGD:8158049 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:19293779 RGD:8158049 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:19268277 PMID:22334370 PMID:23847139 More... NCBI chr 6:123,609,519...123,655,001
Ensembl chr 6:123,609,535...123,655,001 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:18509552 PMID:19373681 PMID:22334370 PMID:25741868 PMID:28041643 More... NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:60,182,035...60,194,706 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 1:127,130,686...127,247,219
Ensembl chr 1:127,130,686...127,247,391 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:14520415 PMID:16308660 PMID:25097241 PMID:25326637 PMID:25741868 More... NCBI chr 6:123,927,657...124,025,354
Ensembl chr 6:123,927,907...123,982,117 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24791901 PMID:25741868 PMID:27162334 PMID:28492532 PMID:32531858 NCBI chr 6:111,214,048...111,431,892
Ensembl chr 6:111,214,103...111,431,891 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:38,294,415...38,315,471
Ensembl chr 5:38,292,665...38,315,804 		JBrowse link
G Tulp1 TUB like protein 1 ISO RP14,OMIM:600132;DNA:point mutations:exon:R420P, F491L,I459K
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar
RGD		 PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 More... RGD:1624352, RGD:8547535 NCBI chr20:6,413,901...6,425,833
Ensembl chr20:6,413,901...6,425,833 		JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11006213 NCBI chr10:63,735,927...63,741,404
Ensembl chr10:63,735,777...63,741,404 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... RGD:8547536 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO RGD PMID:20212494 RGD:8547536 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.C759F (human)
DNA:snps, deletions, insertion:multiple (human)
DNA:missense mutation, snp:cds, intron:p.G1734R, g.IVS32+1G>A (human) 		ClinVar
CTD
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:3258136 PMID:3526624 More... RGD:8547535, RGD:8547967, RGD:8547966, RGD:8547963 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:eye: RGD PMID:18326689 RGD:7483592 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:22,439,392...22,468,194 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:25741868 PMID:26467025 More... NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr 6:109,932,943...109,972,005
Ensembl chr 6:109,948,313...109,971,100 		JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutation:cds:p.L710S (human)
ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:34906470 PMID:23683095 RGD:11552600 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:9536098 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 More... NCBI chr 1:211,605,163...211,612,267
Ensembl chr 1:211,605,185...211,612,277 		JBrowse link
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:20227676 PMID:20797688 PMID:25741868 PMID:28492532 NCBI chr 6:30,894,153...30,897,414
Ensembl chr 6:30,894,079...30,897,413 		JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 More... NCBI chr 6:103,764,864...103,828,520
Ensembl chr 6:103,765,510...103,828,463 		JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:28095122 NCBI chr 3:98,071,210...98,077,075
Ensembl chr 3:98,072,568...98,077,196 		JBrowse link
retinitis pigmentosa 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 1
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:17325179 PMID:20029649 PMID:23419329 PMID:23769331 PMID:23982839 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Abcb6 ATP binding cassette subfamily B member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:84,117,222...84,125,939
Ensembl chr 9:84,117,220...84,125,526 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:105,583,682...105,637,895 		JBrowse link
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:160,119,724...160,179,959
Ensembl chr 3:160,119,724...160,179,969 		JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:90,114,250...90,156,286
Ensembl chr17:90,114,375...90,156,286 		JBrowse link
G Aco2 aconitase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:115,265,816...115,308,931
Ensembl chr 7:115,265,791...115,308,892 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:73,725,186...73,804,284
Ensembl chr16:73,725,114...73,804,646 		JBrowse link
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:58,596,095...58,749,239
Ensembl chr19:58,597,761...58,749,138 		JBrowse link
G Adgra3 adhesion G protein-coupled receptor A3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:65,085,418...65,188,949
Ensembl chr14:65,087,380...65,188,959 		JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:48,411,438...48,431,251
Ensembl chr13:48,411,826...48,431,255 		JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:63,224,163...63,269,000
Ensembl chr18:63,224,163...63,269,000 		JBrowse link
G Agbl5 AGBL carboxypeptidase 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:31,192,281...31,213,494
Ensembl chr 6:31,191,635...31,210,676 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:17,580,859...17,711,775
Ensembl chr 1:17,582,006...17,711,774 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:57,961,423...57,998,901 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:57,154,226...57,163,455
Ensembl chr10:57,154,226...57,163,455 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:119,683,076...119,783,471 		JBrowse link
G Alpk1 alpha-kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:218,801,425...218,924,013
Ensembl chr 2:218,780,189...218,921,646 		JBrowse link
G Amacr alpha-methylacyl-CoA racemase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:61,673,291...61,685,381
Ensembl chr 2:61,670,475...61,685,379 		JBrowse link
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:6,192,958...6,300,997
Ensembl chr12:6,128,661...6,300,997 		JBrowse link
G Arl2bp ARF like GTPase 2 binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:10,342,895...10,352,529
Ensembl chr19:10,342,895...10,352,514 		JBrowse link
G Arl3 ARF like GTPase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:255,342,078...255,388,087
Ensembl chr 1:255,342,076...255,388,279 		JBrowse link
G Arl6 ARF like GTPase 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:54,180,271...54,207,136
Ensembl chr11:54,181,241...54,210,813 		JBrowse link
G Arr3 arrestin 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:69,739,959...69,752,300
Ensembl chr  X:69,739,760...69,752,200 		JBrowse link
G Arsg arylsulfatase G ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:94,912,094...95,063,021
Ensembl chr10:94,913,152...95,042,447 		JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:215,436,180...215,456,188
Ensembl chr 1:215,435,218...215,456,198 		JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:85,460,312...85,639,959
Ensembl chr13:85,462,840...85,640,033 		JBrowse link
G Atxn7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:13,547,859...13,693,311
Ensembl chr15:13,547,862...13,693,526 		JBrowse link
G Bbip1 BBSome interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:262,950,459...262,964,410
Ensembl chr 1:262,950,462...262,964,394 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:211,614,195...211,633,504
Ensembl chr 1:211,615,533...211,633,468 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:48,637,324...48,640,395
Ensembl chr 7:48,637,356...48,640,391 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:122,131,550...122,149,152
Ensembl chr 2:122,137,856...122,149,153 		JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,915,476...10,950,921 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:68,627,739...68,661,232
Ensembl chr 8:68,627,656...68,661,358 		JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:74,818,104...74,839,658
Ensembl chr 3:74,818,473...74,857,023 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:121,362,884...121,402,473
Ensembl chr 2:121,362,885...121,402,473 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:29,288,846...29,713,889
Ensembl chr 8:29,289,997...29,713,880 		JBrowse link
G Bcor BCL6 co-repressor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:13,282,431...13,402,254
Ensembl chr  X:13,360,376...13,402,254 		JBrowse link
G Best1 bestrophin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:53,347,754...53,349,912
Ensembl chr 8:53,347,711...53,349,912 		JBrowse link
G Ca4 carbonic anhydrase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:70,325,102...70,333,916
Ensembl chr10:70,325,358...70,333,916 		JBrowse link
G Cabp4 calcium binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:210,858,133...210,862,632 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:154,080,877...154,193,778 		JBrowse link
G Capn5 calpain 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:161,827,474...161,884,142
Ensembl chr 1:161,827,474...161,884,142 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
G Cct2 chaperonin containing TCP1 subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:54,578,654...54,591,428
Ensembl chr 7:54,578,663...54,592,977 		JBrowse link
G Cdh23 cadherin-related 23 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Cdh3 cadherin 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:51,303,414...51,353,900
Ensembl chr19:51,300,083...51,354,257 		JBrowse link
G Cdhr1 cadherin-related family member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,863,696...12,883,579 		JBrowse link
G Cep164 centrosomal protein 164 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:54,967,621...55,031,264
Ensembl chr 8:54,967,621...55,031,206 		JBrowse link
G Cep19 centrosomal protein 19 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:82,182,868...82,192,134
Ensembl chr11:82,182,868...82,192,032 		JBrowse link
G Cep250 centrosomal protein 250 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:164,931,033...164,976,210
Ensembl chr 3:164,931,066...164,976,210 		JBrowse link
G Cep290 centrosomal protein 290 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:37,196,765...37,285,955
Ensembl chr 7:37,196,783...37,285,955 		JBrowse link
G Cep41 centrosomal protein 41 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:60,238,602...60,279,670
Ensembl chr 4:60,239,539...60,254,419 		JBrowse link
G Cep78 centrosomal protein 78 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:222,674,194...222,702,120 		JBrowse link
G Cerkl CERK like autophagy regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:84,641,121...84,747,999
Ensembl chr 3:84,645,696...84,747,688 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:10,687,506...10,694,366
Ensembl chr20:10,687,506...10,694,366 		JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:28,789,580...28,812,891
Ensembl chr 5:28,792,692...28,812,887 		JBrowse link
G Cfh complement factor H ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:54,063,079...54,164,523
Ensembl chr13:54,062,531...54,164,532 		JBrowse link
G Chm CHM Rab escort protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:82,395,463...82,554,249
Ensembl chr  X:82,396,816...82,568,642 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:63,826,410...63,843,301
Ensembl chr 8:63,826,411...63,843,277 		JBrowse link
G Clcc1 chloride channel CLIC-like 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:198,984,455...199,015,015
Ensembl chr 2:198,984,495...199,015,014 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:190,586,649...190,600,034
Ensembl chr 1:190,586,650...190,597,929 		JBrowse link
G Clrn1 clarin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:145,233,941...145,280,855
Ensembl chr 2:145,233,941...145,280,855 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:12,094,346...12,159,440
Ensembl chr10:12,094,346...12,131,693 		JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:35,920,948...35,959,065
Ensembl chr14:35,926,854...35,959,056 		JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:46,943,353...46,989,862
Ensembl chr 9:46,928,810...46,989,862 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:9,732,646...9,798,864
Ensembl chr19:9,732,646...9,797,224 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:37,543,903...37,792,030
Ensembl chr 5:37,543,903...37,792,030 		JBrowse link
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:46,207,602...46,246,817
Ensembl chr 9:46,207,551...46,246,817 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:34,003,905...34,164,543 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:139,892,798...139,910,131
Ensembl chr 5:139,892,798...139,909,855 		JBrowse link
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:58,996,119...59,096,817
Ensembl chr 2:58,996,130...59,096,817 		JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:110,200,078...110,210,644
Ensembl chr 7:110,199,066...110,210,644 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
G Crx cone-rod homeobox ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:85,667,971...85,681,852 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:13,860,072...13,975,299
Ensembl chr 5:13,860,072...13,975,321 		JBrowse link
G Ctnna1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,999,820...27,135,007 		JBrowse link
G Ctsd cathepsin D ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:206,956,945...206,968,821
Ensembl chr 1:206,956,944...206,968,821 		JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:37,498,462...37,709,691
Ensembl chr 2:37,498,468...37,709,355 		JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:53,650,978...53,675,916
Ensembl chr16:53,650,569...53,676,746 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:151,482,139...151,508,248
Ensembl chr 5:151,481,429...151,508,129 		JBrowse link
G Dhx38 DEAH-box helicase 38 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:54,422,418...54,439,434
Ensembl chr19:54,422,418...54,439,423 		JBrowse link
G Dhx40 DEAH-box helicase 40 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:72,081,867...72,118,792
Ensembl chr10:72,081,867...72,118,958 		JBrowse link
G Dram2 DNA damage regulated autophagy modulator 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:196,724,052...196,752,645
Ensembl chr 2:196,723,858...196,755,103 		JBrowse link
G Dthd1 death domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:50,773,694...50,877,217 JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:12,473,955...12,697,075
Ensembl chr 8:12,473,955...12,697,058 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:106,811,769...106,890,961
Ensembl chr14:106,802,304...106,892,808 		JBrowse link
G Elovl1 ELOVL fatty acid elongase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:137,246,781...137,251,351
Ensembl chr 5:137,246,849...137,251,352 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:93,582,930...93,609,678 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:156,891,773...156,917,092
Ensembl chr 5:156,891,773...156,917,092 		JBrowse link
G Espn espin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:167,909,271...167,942,984 		JBrowse link
G Exosc2 exosome component 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:35,360,652...35,370,948
Ensembl chr 3:35,360,666...35,371,373 		JBrowse link
G Fam161a FAM161 centrosomal protein A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:101,210,694...101,256,020
Ensembl chr14:101,210,662...101,229,535 		JBrowse link
G Flvcr1 FLVCR choline and heme transporter 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:105,117,402...105,139,780
Ensembl chr13:105,117,402...105,139,759 		JBrowse link
G Foxe3 forkhead box E3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:133,681,684...133,683,266
Ensembl chr 5:133,681,702...133,683,266 		JBrowse link
G Fscn2 fascin actin-bundling protein 2, retinal ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:106,121,038...106,139,683
Ensembl chr10:106,133,144...106,139,683 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:152,692,507...152,701,372 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825 		JBrowse link
G Gdpd1 glycerophosphodiester phosphodiesterase domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:72,318,716...72,381,143
Ensembl chr10:72,337,778...72,381,120 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:117,229,575...117,234,311
Ensembl chr 8:117,229,575...117,234,311 		JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:198,414,568...198,431,532
Ensembl chr 2:198,414,920...198,424,022 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:159,325,741...159,331,443
Ensembl chr 4:159,325,742...159,331,445 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:14,756,685...14,761,636 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:82,820,954...82,836,833
Ensembl chr10:82,821,113...82,836,833 		JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:82,821,184...82,837,971
Ensembl chr16:82,826,022...82,837,971 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:35,669,003...35,683,729
Ensembl chr10:35,669,003...35,683,729 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:21,080,782...21,096,221
Ensembl chr 9:21,086,642...21,096,221 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:21,097,274...21,105,107
Ensembl chr 9:21,097,274...21,105,107 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:54,453,753...54,478,639
Ensembl chr10:54,457,844...54,472,898 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712 		JBrowse link
G Hccs holocytochrome c synthase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:28,505,370...28,514,812
Ensembl chr  X:28,505,417...28,514,812 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:72,807,967...72,840,180
Ensembl chr16:72,807,849...72,840,176 		JBrowse link
G Hk1 hexokinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		JBrowse link
G Hmcn1 hemicentin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:65,165,532...65,634,681
Ensembl chr13:65,165,532...65,634,519 		JBrowse link
G Hmx1 H6 family homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:79,585,840...79,589,626
Ensembl chr14:79,585,840...79,589,626 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:63,867,882...63,887,223
Ensembl chr 8:63,867,820...63,887,223 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:137,934,697...137,940,107 		JBrowse link
G Ift140 intraflagellar transport 140 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,537,466...14,624,926 		JBrowse link
G Ift172 intraflagellar transport 172 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:30,801,918...30,840,830 		JBrowse link
G Ift27 intraflagellar transport 27 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:111,619,145...111,635,129
Ensembl chr 7:111,619,077...111,634,936 		JBrowse link
G Ift43 intraflagellar transport 43 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:111,456,476...111,537,224 		JBrowse link
G Ift74 intraflagellar transport 74 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:114,576,106...114,679,581
Ensembl chr 5:114,593,397...114,679,581 		JBrowse link
G Ift81 intraflagellar transport 81 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:39,618,559...39,697,971
Ensembl chr12:39,618,651...39,697,962 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:58,767,230...58,782,825
Ensembl chr 4:58,767,230...58,783,124 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:90,123,821...90,269,903
Ensembl chr 8:90,123,821...90,269,903 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:57,787,914...57,887,450
Ensembl chr11:57,787,914...58,033,766 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Invs inversin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:67,406,511...67,559,355
Ensembl chr 5:67,406,485...67,559,350 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:77,410,986...77,465,540
Ensembl chr11:77,410,314...77,465,478 		JBrowse link
G Itm2b integral membrane protein 2B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:54,955,549...54,978,455
Ensembl chr15:54,955,552...54,978,455 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:95,509,228...95,528,400
Ensembl chr 9:95,510,877...95,520,817 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:234,409,067...234,485,894
Ensembl chr 1:234,413,096...234,495,298 		JBrowse link
G Kiaa1549 KIAA1549 homolog ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:67,807,635...67,935,303
Ensembl chr 4:67,811,803...67,935,360 		JBrowse link
G Kif11 kinesin family member 11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:244,494,875...244,589,250 		JBrowse link
G Kif3b kinesin family member 3B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:162,218,621...162,258,191
Ensembl chr 3:162,218,682...162,258,581 		JBrowse link
G Kiz kizuna centrosomal protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:154,730,873...154,838,410
Ensembl chr 3:154,730,634...154,838,410 		JBrowse link
G Klhl7 kelch-like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796 		JBrowse link
G Lama1 laminin subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:115,139,548...115,263,620
Ensembl chr 9:115,139,548...115,264,251 		JBrowse link
G Lca5 lebercilin LCA5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:93,187,735...93,255,060
Ensembl chr 8:93,197,702...93,254,991 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:170,562,148...170,571,212
Ensembl chr 2:170,565,543...170,571,148 		JBrowse link
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:221,011,458...221,034,568
Ensembl chr 2:221,011,595...221,031,747 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:210,243,502...210,346,822 		JBrowse link
G Lrpap1 LDL receptor related protein associated protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:79,876,002...79,888,011
Ensembl chr14:79,875,708...79,890,034 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:132,222,339...132,237,757
Ensembl chr 8:132,222,342...132,237,684 		JBrowse link
G Mak male germ cell-associated kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:23,889,417...23,936,857
Ensembl chr17:23,889,516...23,936,855 		JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:116,808,429...116,842,228
Ensembl chr 8:116,808,429...116,842,228 		JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:136,391,936...136,498,366
Ensembl chr 3:136,383,560...136,500,192 		JBrowse link
G Mfn2 mitofusin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:163,587,463...163,618,495 		JBrowse link
G Mfrp membrane frizzled-related protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:53,342,483...53,347,696
Ensembl chr 8:53,342,534...53,347,861 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:125,749,994...125,785,919 		JBrowse link
G Mir204 microRNA 204 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:229,743,461...229,743,570
Ensembl chr 1:229,743,461...229,743,570 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:144,654,563...144,672,831
Ensembl chr 3:144,654,566...144,672,831 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:73,152,599...73,167,451
Ensembl chr10:73,153,186...73,163,886 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:135,403,094...135,409,285
Ensembl chr 5:135,402,404...135,409,235 		JBrowse link
G Mtrfr mitochondrial translation release factor in rescue ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:37,922,532...37,936,219
Ensembl chr12:37,919,398...37,936,219 		JBrowse link
G Mttp microsomal triglyceride transfer protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:229,286,501...229,327,650
Ensembl chr 2:229,286,501...229,327,650 		JBrowse link
G Mvk mevalonate kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:47,802,002...47,819,503
Ensembl chr12:47,802,002...47,819,503 		JBrowse link
G Myo7a myosin VIIA ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:41,777,253...42,081,895
Ensembl chr 6:41,755,851...42,081,895 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:8,379,569...8,404,019
Ensembl chr  X:8,379,569...8,406,802 		JBrowse link
G Nek2 NIMA-related kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:105,936,809...105,950,054
Ensembl chr13:105,936,788...105,950,056 		JBrowse link
G Neurod1 neuronal differentiation 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:84,766,483...84,770,454
Ensembl chr 3:84,764,725...84,770,810 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:165,193,301...165,211,213
Ensembl chr 5:165,193,302...165,211,231 		JBrowse link
G Nphp1 nephrocystin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:135,413,927...135,469,505 		JBrowse link
G Nphp3 nephrocystin 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:113,500,708...113,541,179
Ensembl chr 8:113,500,509...113,541,179 		JBrowse link
G Nphp4 nephrocystin 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:168,271,073...168,358,242 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:69,261,343...69,269,081
Ensembl chr 8:69,261,343...69,269,081 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:9,776,179...9,785,924
Ensembl chr 2:9,776,179...9,785,924 		JBrowse link
G Nrl neural retina leucine zipper ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:32,977,023...32,981,442
Ensembl chr15:32,977,035...32,981,442 		JBrowse link
G Nyx nyctalopin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:11,953,680...11,974,716
Ensembl chr  X:11,953,018...11,974,810 		JBrowse link
G Oat ornithine aminotransferase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:196,777,973...196,797,754
Ensembl chr 1:196,777,975...196,797,754 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
G Olr1433 olfactory receptor 1433 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:43,542,833...43,546,698 JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Opa3 outer mitochondrial membrane lipid metabolism regulator OPA3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:88,007,707...88,037,639
Ensembl chr 1:88,025,696...88,028,657
Ensembl chr 1:88,025,696...88,028,657 		JBrowse link
G Opn1sw opsin 1, short wave sensitive ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:58,942,685...58,945,825
Ensembl chr 4:58,942,681...58,945,825 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:24,422,876...24,432,709
Ensembl chr15:24,422,876...24,432,472 		JBrowse link
G P3h2 prolyl 3-hydroxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:88,139,086...88,280,221
Ensembl chr11:88,139,078...88,281,203 		JBrowse link
G P4ha2 prolyl 4-hydroxylase subunit alpha 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:38,743,894...38,772,741
Ensembl chr10:38,743,894...38,772,993 		JBrowse link
G Pank2 pantothenate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:138,936,452...138,974,194 		JBrowse link
G Pax2 paired box 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:253,555,447...253,646,623
Ensembl chr 1:253,555,418...253,645,438 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:112,590,034...112,611,771
Ensembl chr 3:112,590,391...112,611,763 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:29,469,232...29,478,541
Ensembl chr 6:29,469,817...29,478,541 		JBrowse link
G Pcdh15 protocadherin related 15 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:81,818,914...81,862,623
Ensembl chr11:81,819,285...81,862,395 		JBrowse link
G Pde6a phosphodiesterase 6A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,947,249...57,019,015
Ensembl chr18:56,947,249...57,019,015 		JBrowse link
G Pde6b phosphodiesterase 6B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,468,302...1,511,435 		JBrowse link
G Pde6c phosphodiesterase 6C ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:245,322,015...245,377,874
Ensembl chr 1:245,322,015...245,377,852 		JBrowse link
G Pde6g phosphodiesterase 6G ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:106,219,849...106,224,496
Ensembl chr10:106,219,849...106,224,496 		JBrowse link
G Pde6h phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:171,588,896...171,604,142
Ensembl chr 4:171,588,974...171,604,249 		JBrowse link
G Pdss1 decaprenyl diphosphate synthase subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:89,964,768...90,006,819
Ensembl chr17:89,968,034...90,006,817 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:31,474,670...31,513,621
Ensembl chr 4:31,470,845...31,513,811 		JBrowse link
G Pex2 peroxisomal biogenesis factor 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:97,957,479...97,973,767
Ensembl chr 2:97,948,443...97,981,092 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:21,755,747...21,767,939
Ensembl chr 9:21,755,751...21,767,908 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:16,402,319...16,466,304
Ensembl chr 1:16,402,320...16,466,366 		JBrowse link
G Pgk1 phosphoglycerate kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:75,336,988...75,352,962
Ensembl chr  X:75,336,687...75,352,959 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:57,173,230...57,265,186
Ensembl chr10:57,175,721...57,265,291 		JBrowse link
G Pla2g5 phospholipase A2, group V ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:156,324,628...156,393,065
Ensembl chr 5:156,324,629...156,381,926 		JBrowse link
G Plk4 polo-like kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:125,730,480...125,748,894
Ensembl chr 2:125,730,460...125,748,892 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:6,372,284...6,401,632
Ensembl chr12:6,372,293...6,401,631 		JBrowse link
G Poc1b POC1 centriolar protein B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:35,810,761...35,912,571
Ensembl chr 7:35,810,820...35,912,571 		JBrowse link
G Poc5 POC5 centriolar protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:29,454,392...29,483,468
Ensembl chr 2:29,454,272...29,485,309 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:134,870,975...134,880,863 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:140,406,318...140,427,201
Ensembl chr 5:140,406,214...140,427,200 		JBrowse link
G Prcd photoreceptor disc component ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:102,386,025...102,406,485
Ensembl chr10:102,385,826...102,390,987 		JBrowse link
G Prdm13 PR/SET domain 13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:40,017,607...40,029,658
Ensembl chr 5:40,017,607...40,038,207 		JBrowse link
G Primpol primase and DNA directed polymerase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:52,413,894...52,450,975
Ensembl chr16:52,413,935...52,450,950 		JBrowse link
G Prom1 prominin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:186,067,980...186,092,427
Ensembl chr 2:186,067,162...186,092,427 		JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:74,491,247...74,502,922
Ensembl chr 1:74,491,247...74,502,922 		JBrowse link
G Prpf4 pre-mRNA splicing tri-snRNP complex factor PRPF4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:80,875,511...80,889,501
Ensembl chr 5:80,875,498...80,889,497 		JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:189,084,465...189,148,705
Ensembl chr 3:189,081,794...189,152,786 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:60,829,778...60,852,887
Ensembl chr10:60,829,778...60,852,887 		JBrowse link
G Prph2 peripherin 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:108,920,651...108,942,711 		JBrowse link
G Pxdn peroxidasin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:52,308,347...52,385,943
Ensembl chr 6:52,308,364...52,385,942 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:73,458,386...73,535,367
Ensembl chr14:73,458,249...73,535,369 		JBrowse link
G Rbp3 retinol binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:9,273,787...9,282,255
Ensembl chr16:9,273,787...9,282,646 		JBrowse link
G Rbp4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:245,306,349...245,313,898 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:37,430,453...37,477,920
Ensembl chr15:37,435,070...37,480,803 		JBrowse link
G Rd3 RD3 regulator of GUCY2D ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:106,060,657...106,097,063
Ensembl chr13:106,084,171...106,093,540 		JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:103,712,373...103,728,247
Ensembl chr 6:103,712,374...103,729,741 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:103,748,457...103,761,379
Ensembl chr 6:103,748,427...103,761,380 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:1,912,120...1,931,836
Ensembl chr 7:1,925,335...1,936,049 		JBrowse link
G Reep6 receptor accessory protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:10,024,601...10,031,507
Ensembl chr 7:10,024,602...10,031,740 		JBrowse link
G Rgr retinal G protein coupled receptor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:12,821,858...12,836,665
Ensembl chr16:12,821,858...12,836,486 		JBrowse link
G Rgs9 regulator of G-protein signaling 9 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:94,696,556...94,770,387
Ensembl chr10:94,696,556...94,770,387 		JBrowse link
G Rgs9bp regulator of G protein signaling 9 binding protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:97,386,326...97,387,039
Ensembl chr 1:97,386,326...97,387,039 		JBrowse link
G Rho rhodopsin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:32,193,352...32,692,998
Ensembl chr 9:32,193,352...32,692,772 		JBrowse link
G Rims2 regulating synaptic membrane exocytosis 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:72,133,004...72,644,059
Ensembl chr 7:72,133,170...72,645,499 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:142,718,262...142,731,621
Ensembl chr 1:142,718,262...142,731,621 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:215,253,155...215,255,163
Ensembl chr 1:215,253,159...215,255,163 		JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO
ISS 		ClinVar Annotator: match by term: RP1-related condition | ClinVar Annotator: match by term: RP1-related recessive retinopathy | ClinVar Annotator: match by term: RP1-related retinal dystrophy | ClinVar Annotator: match by term: Retinitis pigmentosa 1
OMIM:180100
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1783394 PMID:3196484 PMID:8931712 PMID:9536098 PMID:10391211 More... NCBI chr 5:19,918,728...20,380,811
Ensembl chr 5:19,918,799...20,377,580 		JBrowse link
G Rp1l1 RP1 like 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:42,435,803...42,447,165
Ensembl chr15:42,435,803...42,447,165 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:4,426,071...4,470,200
Ensembl chr  X:4,403,052...4,530,576 		JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:29,218,564...29,281,211
Ensembl chr 8:29,217,346...29,281,150 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:251,425,368...251,457,156 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:27,282,997...27,341,021
Ensembl chr15:27,282,998...27,341,021 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
G Rs1 retinoschisin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:37,771,135...37,800,894
Ensembl chr  X:37,771,135...37,800,894 		JBrowse link
G Rtn4ip1 reticulon 4 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:48,964,903...49,004,235
Ensembl chr20:48,964,816...49,006,456 		JBrowse link
G Sag S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:95,915,640...95,956,641
Ensembl chr 9:95,917,197...95,956,507 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:172,113,900...172,142,026
Ensembl chr 5:172,113,654...172,131,927 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:64,828,789...65,228,240
Ensembl chr 8:64,828,789...65,228,453 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:91,286,787...91,518,255
Ensembl chr13:91,286,645...91,511,490 		JBrowse link
G Sema4a semaphorin 4A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:176,194,255...176,212,258 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:211,999,777...212,040,686
Ensembl chr 1:211,999,778...212,020,113 		JBrowse link
G Six6 SIX homeobox 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:97,357,883...97,375,415
Ensembl chr 6:97,370,435...97,375,415 		JBrowse link
G Slc19a2 solute carrier family 19 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:79,135,118...79,149,316
Ensembl chr13:79,135,059...79,149,315 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:74,334,556...74,361,313
Ensembl chr 8:74,335,053...74,361,268 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:23,490,422...23,519,599
Ensembl chr18:23,490,425...23,518,730 		JBrowse link
G Slc39a5 solute carrier family 39 member 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:1,409,360...1,415,407
Ensembl chr 7:1,409,360...1,414,784 		JBrowse link
G Slc4a7 solute carrier family 4 member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:13,015,854...13,095,485
Ensembl chr15:13,015,854...13,095,292 		JBrowse link
G Slc7a14 solute carrier family 7, member 14 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:113,993,781...114,099,810
Ensembl chr 2:113,993,785...114,099,804 		JBrowse link
G Smg8 SMG8 nonsense mediated mRNA decay factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:72,384,012...72,393,746
Ensembl chr10:72,384,025...72,393,045 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:134,882,173...134,911,512
Ensembl chr 3:134,882,173...134,911,500 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:123,609,519...123,655,001
Ensembl chr 6:123,609,535...123,655,001 		JBrowse link
G Spp2 secreted phosphoprotein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:96,454,636...96,474,453
Ensembl chr 9:96,454,957...96,474,452 		JBrowse link
G Srd5a3 steroid 5 alpha-reductase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:32,400,603...32,414,987
Ensembl chr14:32,400,603...32,415,117 		JBrowse link
G Tead1 TEA domain transcription factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:176,227,175...176,445,122
Ensembl chr 1:176,227,175...176,438,198 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr  X:102,011,206...102,015,444
Ensembl chr  X:102,011,206...102,015,444 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:19,409,631...19,459,547 		JBrowse link
G Tmem126a transmembrane protein 126A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:153,837,015...153,843,192
Ensembl chr 1:153,835,236...153,843,160 		JBrowse link
G Tmem216 transmembrane protein 216 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:216,621,365...216,627,497
Ensembl chr 1:216,621,376...216,626,519 		JBrowse link
G Tmem237 transmembrane protein 237 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:68,027,481...68,066,731
Ensembl chr 9:68,030,664...68,063,525 		JBrowse link
G Tmem67 transmembrane protein 67 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:60,182,035...60,194,706 		JBrowse link
G Traf3ip1 TRAF3 interacting protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:99,521,176...99,557,966
Ensembl chr 9:99,521,179...99,557,963 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:118,585,082...118,586,382
Ensembl chr 8:118,585,081...118,586,083 		JBrowse link
G Trim32 tripartite motif-containing 32 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:84,020,604...84,031,483
Ensembl chr 5:84,014,803...84,042,748 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:141,236,937...141,259,700
Ensembl chr 4:141,236,979...141,259,698 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:127,130,686...127,247,219
Ensembl chr 1:127,130,686...127,247,391 		JBrowse link
G Tspan12 tetraspanin 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:51,279,562...51,355,030
Ensembl chr 4:51,279,563...51,355,030 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:123,927,657...124,025,354
Ensembl chr 6:123,927,907...123,982,117 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:111,214,048...111,431,892
Ensembl chr 6:111,214,103...111,431,891 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:38,294,415...38,315,471
Ensembl chr 5:38,292,665...38,315,804 		JBrowse link
G Tub TUB bipartite transcription factor ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:172,386,772...172,465,791
Ensembl chr 1:172,382,197...172,465,790 		JBrowse link
G Tubb4b tubulin, beta 4B class IVb ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:28,435,999...28,438,455
Ensembl chr 3:28,435,148...28,439,719 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:128,594,052...128,628,789
Ensembl chr 3:128,595,380...128,625,953 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:122,057,328...122,078,639
Ensembl chr 7:122,057,328...122,078,490 		JBrowse link
G Tulp1 TUB like protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:6,413,901...6,425,833
Ensembl chr20:6,413,901...6,425,833 		JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:63,735,927...63,741,404
Ensembl chr10:63,735,777...63,741,404 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Ush2a usherin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Usp45 ubiquitin specific peptidase 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:40,115,394...40,188,861
Ensembl chr 5:40,115,267...40,188,861 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:22,497,035...22,595,955
Ensembl chr 2:22,497,035...22,595,955 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574 		JBrowse link
G Vwa8 von Willebrand factor A domain containing 8 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:60,661,764...60,985,971
Ensembl chr15:60,661,877...60,985,971 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:99,847,463...100,178,392
Ensembl chr14:99,847,632...100,200,287 		JBrowse link
G Wdr19 WD repeat domain 19 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
G Whrn whirlin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
G Ypel2 yippee-like 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:72,243,591...72,301,124
Ensembl chr10:72,243,591...72,301,124 		JBrowse link
G Zfp423 zinc finger protein 423 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr19:35,282,149...35,580,775
Ensembl chr19:35,282,110...35,580,773 		JBrowse link
G Zfp513 zinc finger protein 513 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:30,894,153...30,897,414
Ensembl chr 6:30,894,079...30,897,413 		JBrowse link
G Zfp644 zinc finger protein 644 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:3,248,350...3,324,820
Ensembl chr14:3,249,888...3,324,820 		JBrowse link
G Znf408 zinc finger protein 408 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:98,071,210...98,077,075
Ensembl chr 3:98,072,568...98,077,196 		JBrowse link
retinitis pigmentosa 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: IMPDH1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 10
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11875049 PMID:11875050 PMID:15851576 PMID:15882147 More... NCBI chr 4:58,767,230...58,782,825
Ensembl chr 4:58,767,230...58,783,124 		JBrowse link
retinitis pigmentosa 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: TBC1D32-related disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr20:35,902,281...36,133,161
Ensembl chr20:35,902,700...36,133,057 		JBrowse link
retinitis pigmentosa 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf31 pre-mRNA processing factor 31 ISO
ISS 		ClinVar Annotator: match by term: PRPF31-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 11
OMIM:600138
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:5764686 PMID:8004108 PMID:8025041 PMID:8808602 PMID:9345108 More... NCBI chr 1:74,491,247...74,502,922
Ensembl chr 1:74,491,247...74,502,922 		JBrowse link
retinitis pigmentosa 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 ISO
ISS 		ClinVar Annotator: match by term: Retinitis pigmentosa 12
OMIM:600105
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1389483 PMID:1427914 PMID:2906847 PMID:2953188 PMID:3012021 More... NCBI chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
retinitis pigmentosa 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 13 ClinVar PMID:16936081 PMID:25741868 PMID:26355662 PMID:28492532 NCBI chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO
ISS 		ClinVar Annotator: match by term: PRPF8-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 13
OMIM:600059
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11468273 PMID:11910553 PMID:12714658 PMID:16199547 More... NCBI chr10:60,829,778...60,852,887
Ensembl chr10:60,829,778...60,852,887 		JBrowse link
retinitis pigmentosa 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 14 ClinVar NCBI chr10:60,829,778...60,852,887
Ensembl chr10:60,829,778...60,852,887 		JBrowse link
G Tulp1 TUB like protein 1 ISO
ISS 		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 14
OMIM:600132
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2552515 PMID:3203739 PMID:8606774 PMID:9462750 PMID:9462751 More... NCBI chr20:6,413,901...6,425,833
Ensembl chr20:6,413,901...6,425,833 		JBrowse link
retinitis pigmentosa 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ca4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: CA4-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 17 ClinVar PMID:7581389 PMID:9385361 PMID:15090652 PMID:15295099 PMID:15563508 More... NCBI chr10:70,325,102...70,333,916
Ensembl chr10:70,325,358...70,333,916 		JBrowse link
retinitis pigmentosa 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf3 pre-mRNA processing factor 3 ISO
ISS 		ClinVar Annotator: match by term: PRPF3-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 18
OMIM:601414
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:11773002 PMID:15085354 PMID:16799052 PMID:17517693 PMID:17932117 More... NCBI chr 2:186,067,980...186,092,427
Ensembl chr 2:186,067,162...186,092,427 		JBrowse link
retinitis pigmentosa 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO
ISS 		ClinVar Annotator: match by term: Retinitis pigmentosa 19
OMIM:601718
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:248200 PMID:3002862 PMID:3196484 PMID:4097981 PMID:8533764 More... NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
retinitis pigmentosa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ARF like GTPase 3 ISS OMIM:312600 MouseDO NCBI chr 1:255,342,078...255,388,087
Ensembl chr 1:255,342,076...255,388,279 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO
ISS 		ClinVar Annotator: match by term: RP2-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 2
OMIM:312600
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 More... NCBI chr  X:4,426,071...4,470,200
Ensembl chr  X:4,403,052...4,530,576 		JBrowse link
retinitis pigmentosa 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO
ISS 		ClinVar Annotator: match by term: RPE65-related disorder | ClinVar Annotator: match by term: Retinitis pigmentosa 20
OMIM:613794
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3196484 PMID:4492281 PMID:9326927 PMID:9326941 PMID:9501220 More... NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:251,425,368...251,457,156 		JBrowse link
retinitis pigmentosa 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinitis Pigmentosa 23 | ClinVar Annotator: match by term: Retinitis pigmentosa 23 OMIM
ClinVar		 PMID:10892847 PMID:12595504 PMID:18546297 PMID:22619378 PMID:25741868 More... NCBI chr  X:31,647,000...31,687,768
Ensembl chr  X:31,647,000...31,687,884 		JBrowse link
retinitis pigmentosa 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cerkl CERK like autophagy regulator ISO
ISS 		ClinVar Annotator: match by term: CERKL-related disorder | ClinVar Annotator: match by term: Retinitis pigmentosa 26
OMIM:608380
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 More... NCBI chr 3:84,641,121...84,747,999
Ensembl chr 3:84,645,696...84,747,688 		JBrowse link
retinitis pigmentosa 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: NRL-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 27
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10192380 PMID:11039579 PMID:11385710 PMID:11694879 PMID:11879142 More... NCBI chr15:32,977,023...32,981,442
Ensembl chr15:32,977,035...32,981,442 		JBrowse link
retinitis pigmentosa 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam161a FAM161 centrosomal protein A ISO
ISS 		ClinVar Annotator: match by term: FAM161A-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 28
OMIM:606068 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:10507729 PMID:16199547 PMID:17576681 PMID:20705278 More... NCBI chr14:101,210,694...101,256,020
Ensembl chr14:101,210,662...101,229,535 		JBrowse link
retinitis pigmentosa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iqcb1 IQ motif containing B1 severity ISO RGD PMID:22183348 PMID:21857984 RGD:11352374, RGD:11537386 NCBI chr11:77,410,986...77,465,540
Ensembl chr11:77,410,314...77,465,478 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar PMID:9536098 PMID:17576681 PMID:20625056 PMID:23150612 PMID:25741868 More... NCBI chr  X:4,426,071...4,470,200
Ensembl chr  X:4,403,052...4,530,576 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO
ISS 		ClinVar Annotator: match by term: Choroidoretinal degeneration with retinal reflex in heterozygous women | ClinVar Annotator: match by term: Retinitis pigmentosa 3
OMIM:300029
CTD Direct Evidence: marker/mechanism
DNA:deletions:exon:p.E746RfsX768, p.E802GfsX833, p.T801TfsX813 (human)
DNA:deletion:exon:g.48061-48064delAAGT (human)
DNA:nonsense mutation:exon:p.G52X (human)
DNA:missense mutation:exon:p.G60V (human)
DNA:transversion:intron:IVS5+1G>T (human)
DNA:duplication:exon:?-?+32dup (mouse)
DNA:frameshift mutation:exon:c.2919delA (human)
DNA:deletion, nonsense mutation:exons:c.1536delC, p.E332X (human)
DNA:mutations:multiple (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:349855 PMID:3646071 PMID:7611300 PMID:8673101 PMID:8817343 More... RGD:8553233, RGD:8553228, RGD:8553210, RGD:8553208, RGD:8553206, RGD:8553204, RGD:8553202, RGD:8553198, RGD:8553196, RGD:8553229 NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
G Rpgrip1l Rpgrip1-like severity ISO DNA:polymorphism:cds:p.R744Q (rs2302677)(human) RGD PMID:22183348 RGD:11352374 NCBI chr19:31,865,050...31,957,930
Ensembl chr19:31,865,231...31,957,930 		JBrowse link
retinitis pigmentosa 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fscn2 fascin actin-bundling protein 2, retinal ISO
ISS 		ClinVar Annotator: match by term: FSCN2-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 30
OMIM:607921
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 More... NCBI chr10:106,121,038...106,139,683
Ensembl chr10:106,133,144...106,139,683 		JBrowse link
retinitis pigmentosa 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 31 | ClinVar Annotator: match by term: TOPORS-related condition | ClinVar Annotator: match by term: TOPORS-related retinopathy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16189705 PMID:17924349 PMID:18509552 PMID:19373681 PMID:22334370 More... NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:60,182,035...60,194,706 		JBrowse link
retinitis pigmentosa 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 32
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16189710 PMID:25741868 PMID:28492532 PMID:30157172 NCBI chr 2:198,984,455...199,015,015
Ensembl chr 2:198,984,495...199,015,014 		JBrowse link
retinitis pigmentosa 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 33 | ClinVar Annotator: match by term: SNRNP200-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3342916 PMID:16612614 PMID:19710410 PMID:19878916 PMID:21618346 More... NCBI chr 3:134,882,173...134,911,512
Ensembl chr 3:134,882,173...134,911,500 		JBrowse link
retinitis pigmentosa 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a semaphorin 4A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 35 		OMIM
CTD
ClinVar		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:176,194,255...176,212,258 		JBrowse link
retinitis pigmentosa 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prcd photoreceptor disc component ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr10:102,386,025...102,406,485
Ensembl chr10:102,385,826...102,390,987 		JBrowse link
retinitis pigmentosa 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 37
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 PMID:15459973 More... NCBI chr 8:69,261,343...69,269,081
Ensembl chr 8:69,261,343...69,269,081 		JBrowse link
retinitis pigmentosa 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mertk MER proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: MERTK-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 38 OMIM
ClinVar		 PMID:9536098 PMID:11062461 PMID:11727200 PMID:15111602 PMID:16199547 More... NCBI chr 3:136,391,936...136,498,366
Ensembl chr 3:136,383,560...136,500,192 		JBrowse link
retinitis pigmentosa 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 39 OMIM
ClinVar		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 PMID:3218867 More... NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
retinitis pigmentosa 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rho rhodopsin ISO
ISS 		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, RHODOPSIN-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 4 | ClinVar Annotator: match by term: Retinitis pigmentosa 4, autosomal recessive
OMIM:613731
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1301135 PMID:1302614 PMID:1303237 PMID:1356370 PMID:1418997 More... NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
retinitis pigmentosa 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6b phosphodiesterase 6B ISO
ISS 		ClinVar Annotator: match by term: PDE6B-related disorder | ClinVar Annotator: match by term: Retinitis pigmentosa 40
OMIM:613801 		OMIM
ClinVar
MouseDO		 PMID:3253185 PMID:7599633 PMID:7724547 PMID:8394174 PMID:8595886 More... NCBI chr14:1,468,302...1,511,435
Ensembl chr14:1,468,302...1,511,435 		JBrowse link
retinitis pigmentosa 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO
ISS 		ClinVar Annotator: match by term: Retinitis pigmentosa 41
OMIM:612095
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3181667 PMID:9536098 PMID:10205271 PMID:10587575 PMID:16199547 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
retinitis pigmentosa 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 42
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1872134 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19520207 More... NCBI chr 4:11,898,766...11,947,796
Ensembl chr 4:11,898,769...11,947,796 		JBrowse link
retinitis pigmentosa 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: PDE6A-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 43 OMIM
ClinVar		 PMID:3196484 PMID:7493036 PMID:9536098 PMID:10393062 PMID:16199547 More... NCBI chr18:56,947,249...57,019,015
Ensembl chr18:56,947,249...57,019,015 		JBrowse link
retinitis pigmentosa 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: RGR-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 44 OMIM
ClinVar		 PMID:9536098 PMID:10581022 PMID:17576681 PMID:25741868 PMID:27623334 More... NCBI chr16:12,821,858...12,836,665
Ensembl chr16:12,821,858...12,836,486 		JBrowse link
retinitis pigmentosa 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: CNGB1-related condition | ClinVar Annotator: match by term: CNGB1-related retinopathy | ClinVar Annotator: match by term: Retinitis pigmentosa 45 OMIM
ClinVar		 PMID:3196484 PMID:3442652 PMID:9536098 PMID:11379879 PMID:15557452 More... NCBI chr19:9,732,646...9,798,864
Ensembl chr19:9,732,646...9,797,224 		JBrowse link
retinitis pigmentosa 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IDH3B-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 46 		OMIM
CTD
ClinVar		 PMID:18806796 PMID:25741868 PMID:28492532 PMID:31736247 NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:137,934,697...137,940,107 		JBrowse link
retinitis pigmentosa 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 47 OMIM
ClinVar		 PMID:7670478 PMID:9452120 PMID:9501883 PMID:9536098 PMID:9565049 More... NCBI chr 9:95,915,640...95,956,641
Ensembl chr 9:95,917,197...95,956,507 		JBrowse link
retinitis pigmentosa 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Retinitis pigmentosa 48 OMIM
ClinVar		 PMID:15452722 PMID:15505030 PMID:22025579 PMID:25741868 PMID:26161267 More... NCBI chr 9:21,097,274...21,105,107
Ensembl chr 9:21,097,274...21,105,107 		JBrowse link
retinitis pigmentosa 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO
ISS 		OMIM:613756 OMIM
MouseDO		 NCBI chr14:35,920,948...35,959,065
Ensembl chr14:35,926,854...35,959,056 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 49 ClinVar PMID:23661369 PMID:24938718 PMID:25741868 PMID:28492532 NCBI chr19:9,732,646...9,798,864
Ensembl chr19:9,732,646...9,797,224 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 49 ClinVar PMID:1423936 PMID:1552912 PMID:1634614 PMID:1638703 PMID:1975517 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:32,416,527...32,438,194 		JBrowse link
retinitis pigmentosa 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 50 | ClinVar Annotator: match by term: Retinitis pigmentosa, concentric OMIM
ClinVar		 PMID:9700209 PMID:10798642 PMID:17110374 PMID:19853238 PMID:21109774 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
retinitis pigmentosa 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 51 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16308660 PMID:16877420 PMID:17576681 More... NCBI chr 6:123,927,657...124,025,354
Ensembl chr 6:123,927,907...123,982,117 		JBrowse link
retinitis pigmentosa 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcare photoreceptor cilium actin regulator ISO
ISS 		ClinVar Annotator: match by term: Cone-rod dystrophy 23 | ClinVar Annotator: match by term: PCARE-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 54
OMIM:613428 		OMIM
ClinVar
MouseDO		 PMID:4543597 PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 More... NCBI chr 6:29,469,232...29,478,541
Ensembl chr 6:29,469,817...29,478,541 		JBrowse link
retinitis pigmentosa 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6 ARF like GTPase 6 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 55 OMIM
ClinVar		 PMID:15258860 PMID:19858128 PMID:19956407 PMID:20142850 PMID:22334370 More... NCBI chr11:54,180,271...54,207,136
Ensembl chr11:54,181,241...54,210,813 		JBrowse link
retinitis pigmentosa 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO
ISS 		ClinVar Annotator: match by term: Retinitis pigmentosa 56
OMIM:613581 		OMIM
ClinVar
MouseDO		 PMID:2487627 PMID:3253185 PMID:16199547 PMID:20673862 PMID:24876279 More... NCBI chr11:57,787,914...57,887,450
Ensembl chr11:57,787,914...58,033,766 		JBrowse link
retinitis pigmentosa 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6g phosphodiesterase 6G ISO ClinVar Annotator: match by term: Retinitis pigmentosa 57 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20655036 PMID:25741868 PMID:28492532 NCBI chr10:106,219,849...106,224,496
Ensembl chr10:106,219,849...106,224,496 		JBrowse link
retinitis pigmentosa 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 58 | ClinVar Annotator: match by term: ZNF513-related condition OMIM
ClinVar		 PMID:20227676 PMID:20797688 PMID:25741868 PMID:28492532 NCBI chr 6:30,894,153...30,897,414
Ensembl chr 6:30,894,079...30,897,413 		JBrowse link
retinitis pigmentosa 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO
ISS 		ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ibb | ClinVar Annotator: match by term: DHDDS-CDG | ClinVar Annotator: match by term: Retinitis pigmentosa 59
OMIM:613861 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21295282 PMID:21295283 More... NCBI chr 5:151,482,139...151,508,248
Ensembl chr 5:151,481,429...151,508,129 		JBrowse link
retinitis pigmentosa 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
retinitis pigmentosa 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: PRPF6-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 60 OMIM
ClinVar		 PMID:21549338 PMID:25741868 PMID:28492532 NCBI chr 3:189,084,465...189,148,705
Ensembl chr 3:189,081,794...189,152,786 		JBrowse link
retinitis pigmentosa 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 61 OMIM
ClinVar		 PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr 2:145,233,941...145,280,855
Ensembl chr 2:145,233,941...145,280,855 		JBrowse link
retinitis pigmentosa 62 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by term: MAK-related condition | ClinVar Annotator: match by term: MAK-related retinopathy | ClinVar Annotator: match by term: Retinitis pigmentosa 62 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21148103 PMID:21825139 More... NCBI chr17:23,889,417...23,936,857
Ensembl chr17:23,889,516...23,936,855 		JBrowse link
retinitis pigmentosa 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: RBP3-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 66 OMIM
ClinVar		 PMID:9614228 PMID:19074801 PMID:21067480 PMID:23105016 PMID:23486466 More... NCBI chr16:9,273,787...9,282,255
Ensembl chr16:9,273,787...9,282,646 		JBrowse link
retinitis pigmentosa 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek2 NIMA-related kinase 2 ISO ClinVar Annotator: match by term: NEK2-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 67 OMIM
ClinVar		 PMID:3667284 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr13:105,936,809...105,950,054
Ensembl chr13:105,936,788...105,950,056 		JBrowse link
retinitis pigmentosa 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc7a14 solute carrier family 7, member 14 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 68 | ClinVar Annotator: match by term: SLC7A14-related condition OMIM
ClinVar		 PMID:24670872 PMID:25741868 PMID:28492532 NCBI chr 2:113,993,781...114,099,810
Ensembl chr 2:113,993,785...114,099,804 		JBrowse link
retinitis pigmentosa 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: KIZ-related condition | ClinVar Annotator: match by term: KIZ-related retinopathy | ClinVar Annotator: match by term: Retinitis pigmentosa 69 OMIM
ClinVar		 PMID:24680887 PMID:25741868 PMID:28492532 PMID:28837078 PMID:29057815 More... NCBI chr 3:154,730,873...154,838,410
Ensembl chr 3:154,730,634...154,838,410 		JBrowse link
retinitis pigmentosa 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO
ISS 		ClinVar Annotator: match by term: Leber congenital amaurosis 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic
OMIM:608133
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1684223 PMID:3441139 PMID:3646071 PMID:7493155 PMID:7825692 More... NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: ROM1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7904211 PMID:8202715 PMID:8595413 PMID:16799052 PMID:25741868 More... NCBI chr 1:215,253,155...215,255,163
Ensembl chr 1:215,253,159...215,255,163 		JBrowse link
retinitis pigmentosa 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf4 pre-mRNA splicing tri-snRNP complex factor PRPF4 ISO ClinVar Annotator: match by term: PRPF4-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 70 OMIM
ClinVar		 PMID:8090199 PMID:9536098 PMID:17576681 PMID:24419317 PMID:25741868 More... NCBI chr 5:80,875,511...80,889,501
Ensembl chr 5:80,875,498...80,889,497 		JBrowse link
retinitis pigmentosa 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 71 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24140113 More... NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:30,801,918...30,840,830 		JBrowse link
retinitis pigmentosa 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 72 OMIM
ClinVar		 PMID:3196484 PMID:25741868 PMID:25882705 PMID:28492532 NCBI chr 3:98,071,210...98,077,075
Ensembl chr 3:98,072,568...98,077,196 		JBrowse link
retinitis pigmentosa 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 73 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17576681 More... NCBI chr16:72,807,967...72,840,180
Ensembl chr16:72,807,849...72,840,176 		JBrowse link
retinitis pigmentosa 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 74 OMIM
ClinVar		 PMID:11285252 PMID:11567139 PMID:12837689 PMID:19402160 PMID:20177705 More... NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,915,476...10,950,921 		JBrowse link
retinitis pigmentosa 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: AGBL5-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 75 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26355662 PMID:26720455 More... NCBI chr 6:31,192,281...31,213,494
Ensembl chr 6:31,191,635...31,210,676 		JBrowse link
retinitis pigmentosa 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Retinitis pigmentosa 76 OMIM
ClinVar		 PMID:12588800 PMID:19299310 PMID:20816175 PMID:21447391 PMID:25741868 More... NCBI chr 5:134,870,971...134,880,864
Ensembl chr 5:134,870,975...134,880,863 		JBrowse link
retinitis pigmentosa 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep6 receptor accessory protein 6 ISO
ISS 		ClinVar Annotator: match by term: REEP6-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 77
OMIM:617304 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27889058 PMID:28369466 More... NCBI chr 7:10,024,601...10,031,507
Ensembl chr 7:10,024,602...10,031,740 		JBrowse link
retinitis pigmentosa 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: ARHGEF18-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 78 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28132693 PMID:28492532 PMID:32581362 NCBI chr12:6,192,958...6,300,997
Ensembl chr12:6,128,661...6,300,997 		JBrowse link
retinitis pigmentosa 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 79 OMIM
ClinVar		 PMID:25190649 PMID:25316723 PMID:25741868 PMID:26427411 PMID:28492532 More... NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,773,220...30,874,814 		JBrowse link
retinitis pigmentosa 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift140 intraflagellar transport 140 susceptibility ISO ClinVar Annotator: match by term: Retinitis pigmentosa 80 ClinVar
OMIM		 PMID:16199547 PMID:22282595 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,537,466...14,624,926 		JBrowse link
retinitis pigmentosa 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 81 OMIM
ClinVar		 PMID:16199547 PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 More... NCBI chr 6:111,460,689...111,537,224
Ensembl chr 6:111,456,476...111,537,224 		JBrowse link
retinitis pigmentosa 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 83 OMIM
ClinVar		 PMID:25741868 PMID:26964041 PMID:28492532 PMID:30932721 NCBI chr 1:255,342,078...255,388,087
Ensembl chr 1:255,342,076...255,388,279 		JBrowse link
retinitis pigmentosa 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx38 DEAH-box helicase 38 ISO ClinVar Annotator: match by term: DHX38-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 84 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24737827 PMID:25741868 PMID:28492532 More... NCBI chr19:54,422,418...54,439,434
Ensembl chr19:54,422,418...54,439,423 		JBrowse link
retinitis pigmentosa 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO ClinVar Annotator: match by term: AHR-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 85 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29726989 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:57,961,423...57,998,901 		JBrowse link
retinitis pigmentosa 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiaa1549 KIAA1549 homolog ISO ClinVar Annotator: match by term: KIAA1549-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 86 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30120214 NCBI chr 4:67,807,635...67,935,303
Ensembl chr 4:67,811,803...67,935,360 		JBrowse link
retinitis pigmentosa 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 87 with choroidal involvement OMIM
ClinVar		 PMID:3196484 PMID:9326941 PMID:9501220 PMID:9536098 PMID:9843205 More... NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:251,425,368...251,457,156 		JBrowse link
retinitis pigmentosa 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 88 OMIM
ClinVar		 PMID:3253185 PMID:20826268 PMID:22466457 PMID:23281133 PMID:23619761 More... NCBI chr15:42,435,803...42,447,165
Ensembl chr15:42,435,803...42,447,165 		JBrowse link
retinitis pigmentosa 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: Retinitis pigmentosa 89 OMIM
ClinVar		 PMID:25741868 PMID:32386558 NCBI chr 3:162,218,621...162,258,191
Ensembl chr 3:162,218,682...162,258,581 		JBrowse link
retinitis pigmentosa 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Retinitis pigmentosa 9
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1479605 PMID:3181667 PMID:8025041 PMID:8513323 PMID:12032732 More... NCBI chr 8:29,218,564...29,281,211
Ensembl chr 8:29,217,346...29,281,150 		JBrowse link
retinitis pigmentosa 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: IDH3A-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 90 OMIM
ClinVar		 PMID:25741868 PMID:28058510 PMID:28412069 PMID:28492532 PMID:30058936 More... NCBI chr 8:63,867,882...63,887,223
Ensembl chr 8:63,867,820...63,887,223 		JBrowse link
retinitis pigmentosa 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Benign concentric annular macular dystrophy 		ClinVar
RGD		 PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 More... RGD:7829711 NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy ClinVar PMID:22968130 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25270190 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:85,667,971...85,681,852 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 More... NCBI chr 8:90,123,821...90,269,903
Ensembl chr 8:90,123,821...90,269,903 		JBrowse link
retinitis pigmentosa 92 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 92 OMIM
ClinVar		 PMID:25741868 PMID:27229527 NCBI chr20:30,878,037...30,917,044
Ensembl chr20:30,878,319...30,916,704 		JBrowse link
retinitis pigmentosa 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Retinitis pigmentosa 93 OMIM
ClinVar		 PMID:19777577 PMID:25741868 PMID:28492532 PMID:30267408 PMID:31589614 More... NCBI chr14:71,563,835...71,648,352
Ensembl chr14:71,563,835...71,648,331 		JBrowse link
retinitis pigmentosa 96 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sag S-antigen visual arrestin ISO OMIM NCBI chr 9:95,915,640...95,956,641
Ensembl chr 9:95,917,197...95,956,507 		JBrowse link
retinitis pigmentosa 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwa8 von Willebrand factor A domain containing 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 97 OMIM
ClinVar		 PMID:25741868 PMID:27229527 NCBI chr15:60,661,764...60,985,971
Ensembl chr15:60,661,877...60,985,971 		JBrowse link
retinitis pigmentosa 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 98 OMIM
ClinVar		 PMID:16199547 PMID:20512146 PMID:25741868 PMID:28492532 PMID:39191256 NCBI chr 1:216,621,365...216,627,497
Ensembl chr 1:216,621,376...216,626,519 		JBrowse link
retinitis pigmentosa 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3g isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 99 ClinVar PMID:40119724 NCBI chr  X:156,666,573...156,675,482
Ensembl chr  X:156,666,577...156,675,799 		JBrowse link
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and erythrocytic microcytosis OMIM
ClinVar		 PMID:3333257 PMID:24033266 PMID:25193871 PMID:25652405 PMID:25741868 More... NCBI chr 4:141,236,937...141,259,700
Ensembl chr 4:141,236,979...141,259,698 		JBrowse link
retinitis pigmentosa with or without situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2bp ARF like GTPase 2 binding protein ISO
ISS 		ClinVar Annotator: match by term: ARL2BP-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus
OMIM:615434 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:23849777 PMID:25741868 PMID:27790702 More... NCBI chr19:10,342,895...10,352,529
Ensembl chr19:10,342,895...10,352,514 		JBrowse link
Retinitis Pigmentosa, Late-Onset Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.C214S(human) RGD PMID:8244346 RGD:8553240 NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
retinopathy sensory neuropathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: FLVCR1-related condition | ClinVar Annotator: match by term: RETINOPATHY-SENSORY NEUROPATHY SYNDROME
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9409377 PMID:9536098 PMID:9855554 PMID:17576681 PMID:21070897 More... NCBI chr13:105,117,402...105,139,780
Ensembl chr13:105,117,402...105,139,759 		JBrowse link
G Flvcr2 FLVCR choline and putative heme transporter 2 ISO ClinVar Annotator: match by term: RETINOPATHY-SENSORY NEUROPATHY SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:111,139,352...111,203,345
Ensembl chr 6:111,139,295...111,203,345 		JBrowse link
RHYNS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, HYPOPITUITARISM, NEPHRONOPHTHISIS, AND MILD SKELETAL DYSPLASIA | ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome OMIM
ClinVar		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:30,333,793...30,386,666 		JBrowse link
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM
ClinVar		 PMID:8279480 PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 More... NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670 		JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 4
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:168,271,073...168,358,242 		JBrowse link
short stature, hearing loss, retinitis pigmentosa, and distinctive facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: EXOSC2-related condition | ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies OMIM
ClinVar		 PMID:14647208 PMID:15060126 PMID:16199547 PMID:24447024 PMID:25741868 More... NCBI chr 3:35,360,652...35,370,948
Ensembl chr 3:35,360,666...35,371,373 		JBrowse link
short-rib thoracic dysplasia 9 with or without polydactyly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift140 intraflagellar transport 140 susceptibility ISS
ISO 		OMIM:266920
ClinVar Annotator: match by term: Saldino-Mainzer syndrome 		MouseDO
OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19561590 PMID:20354512 More... NCBI chr10:14,537,134...14,624,926
Ensembl chr10:14,537,466...14,624,926 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chr14:43,396,130...43,460,012
Ensembl chr14:43,397,835...43,459,939 		JBrowse link
Sorsby's fundus dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timp3 TIMP metallopeptidase inhibitor 3 ISO
ISS 		OMIM:136900
CTD Direct Evidence: marker/mechanism 		OMIM
MouseDO
CTD		 NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:19,409,631...19,459,547 		JBrowse link
spondylometaphyseal dysplasia with cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15326626 PMID:21412974 PMID:24387990 PMID:24387991 PMID:25741868 More... NCBI chr11:81,818,914...81,862,623
Ensembl chr11:81,819,285...81,862,395 		JBrowse link
Stargardt Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 susceptibility
treatment 		ISO ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1
DNA:mutation:exon:c.2041C>T(human)
DNA:mutations:multiple: 		OMIM
ClinVar
RGD		 PMID:248200 PMID:2552515 PMID:2916264 PMID:2955595 PMID:2964157 More... RGD:7829716, RGD:7815046, RGD:7815046, RGD:7815045 NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:12891548 PMID:18482588 PMID:20537830 PMID:23533021 PMID:25741868 More... NCBI chr 4:26,106,895...26,164,440 JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 ClinVar PMID:12215968 PMID:12910490 PMID:17314340 PMID:19162478 PMID:19389488 More... NCBI chr 9:83,614,045...83,618,052
Ensembl chr 9:83,613,975...83,618,257 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10854112 PMID:16754206 PMID:18179881 PMID:21109774 PMID:21192766 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:216,054,395...216,070,974 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 		ClinVar PMID:1347967 PMID:3442652 PMID:10888875 PMID:10958649 PMID:12815043 More... NCBI chr 5:37,543,903...37,792,030
Ensembl chr 5:37,543,903...37,792,030 		JBrowse link
G Elac2 elaC ribonuclease Z 2 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:50,131,449...50,154,755
Ensembl chr10:50,131,521...50,155,069 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:8333273 PMID:18235024 PMID:30718709 NCBI chr 1:234,409,067...234,485,894
Ensembl chr 1:234,413,096...234,495,298 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr20:43,946,898...44,087,972
Ensembl chr20:43,946,898...44,087,972 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:125,749,994...125,785,919 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:11440988 PMID:11440989 PMID:20157015 PMID:20952381 PMID:23384603 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 		ClinVar PMID:279751 PMID:3441139 PMID:4142662 PMID:7493155 PMID:7519821 More... NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 4:150,653,205...150,658,367
Ensembl chr 4:150,653,205...150,658,367 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:25741868 NCBI chr15:42,435,803...42,447,165
Ensembl chr15:42,435,803...42,447,165 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:66,449,293...66,527,260 		JBrowse link
Usher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:3258136 PMID:9536098 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr10:94,912,094...95,063,021
Ensembl chr10:94,913,152...95,042,447 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 4:117,781,444...117,800,103
Ensembl chr 4:117,781,444...117,800,103 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,876,519...28,880,120
Ensembl chr20:28,876,451...28,880,493 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:210,858,133...210,862,632 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:104,985,283...105,025,813
Ensembl chr10:104,985,283...105,026,197 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		ClinVar
RGD		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... RGD:8547536 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 PMID:31456290 NCBI chr 3:164,931,033...164,976,210
Ensembl chr 3:164,931,066...164,976,210 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 More... NCBI chr 8:63,826,410...63,843,301
Ensembl chr 8:63,826,411...63,843,277 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		ClinVar
RGD		 PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 More... RGD:8547535 NCBI chr 2:145,233,941...145,280,855
Ensembl chr 2:145,233,941...145,280,855 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:91,203,670...91,323,577 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:85,667,971...85,681,852 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr14:1,203,380...1,217,536
Ensembl chr14:1,203,565...1,218,024 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:17,222,856...17,244,370 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:244,494,875...244,589,250 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:2696932 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 More... RGD:8547536 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:185,074,271...185,142,149
Ensembl chr 1:185,074,268...185,141,658 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... RGD:8547536 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chr18:56,947,249...57,019,015
Ensembl chr18:56,947,249...57,019,015 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,757,181...28,783,421 		JBrowse link
G Serpinb6a serpin family B member 6A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr17:31,076,811...31,195,035
Ensembl chr17:31,158,622...31,196,545 		JBrowse link
G Ush1c USH1 protein network component harmonin treatment ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
DNA:mutations:cds: 		ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8547536, RGD:8695937, RGD:8695939, RGD:8694458, RGD:8694457 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		ClinVar
RGD		 PMID:12588794 PMID:22219650 PMID:24033266 PMID:25741868 PMID:27460420 More... RGD:8547536 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
DNA:snps, insertion:exon, intron:multiple (human) 		ClinVar
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:3258136 PMID:3526624 More... RGD:8547535, RGD:8547956 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11973626 PMID:12833159 PMID:15841483 PMID:21569298 PMID:22147658 More... NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr 1:211,605,163...211,612,267
Ensembl chr 1:211,605,185...211,612,277 		JBrowse link
Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr 8:63,826,410...63,843,301
Ensembl chr 8:63,826,411...63,843,277 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:167,909,271...167,942,984 		JBrowse link
G Myo7a myosin VIIA ISO
ISS 		DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
OMIM:276900 		ClinVar
MouseDO
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694152 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Ush1c USH1 protein network component harmonin onset ISO DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
ClinVar Annotator: match by term: Usher syndrome type 1
DNA:mutation:cds: c.216G>A(human)
DNA:deletion:exon:c.1220delG(human) 		ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695918, RGD:8695921, RGD:8695919 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:25741868 PMID:26667666 PMID:28492532 PMID:28559085 More... NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
Usher syndrome type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA treatment ISO
IAGP 		ClinVar Annotator: match by term: Usher syndrome type 1B
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation
DNA:mutations: :multiple 		OMIM
ClinVar
CTD
RGD		 PMID:3130723 PMID:3442652 PMID:7568224 PMID:7870171 PMID:7951250 More... RGD:1581470, RGD:8694151, RGD:8694151, RGD:8694137, RGD:8694135 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
Usher syndrome type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO
ISS 		ClinVar Annotator: match by term: Usher syndrome type 1C
CTD Direct Evidence: marker/mechanism
OMIM:276904
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human) 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:1600453 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO
ISS 		ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
OMIM:601067
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... RGD:8662279 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,757,181...28,783,421 		JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO
ISS 		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F
OMIM:602083
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Ush1g USH1 protein network component sans ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G
OMIM:606943 		OMIM
CTD
ClinVar
MouseDO		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
Usher syndrome type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chr 8:63,826,410...63,843,301
Ensembl chr 8:63,826,411...63,843,277 		JBrowse link
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:167,909,271...167,942,984 		JBrowse link
Usher syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 More... NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 PMID:32531858 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 More... NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush2a usherin susceptibility ISO DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:mutations: :multiple
DNA:snp:intron:c.7595-2144A>G (human)
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human) 		ClinVar
RGD		 PMID:2564938 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 More... RGD:8547952, RGD:8694137, RGD:8547985, RGD:8547965, RGD:8547962 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
Usher syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
G Ush2a usherin susceptibility ISO
ISS 		ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
OMIM:276901
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547987, RGD:8547961 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
Usher Syndrome Type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More... NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26849169 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr18:24,747,812...24,783,704
Ensembl chr18:24,747,832...24,783,110 		JBrowse link
Usher syndrome type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO
ISS 		ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
OMIM:605472
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3258136 PMID:3442652 PMID:9536098 PMID:10234513 PMID:14740321 More... NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Cnksr1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:25741868 NCBI chr 5:151,731,222...151,742,049
Ensembl chr 5:151,731,224...151,742,203 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:21900877 PMID:25741868 PMID:28492532 NCBI chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:20440071 PMID:24033266 PMID:24498627 PMID:25741868 PMID:26416264 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
G Slc4a7 solute carrier family 4 member 7 ISS OMIM:605472 MouseDO NCBI chr15:13,015,854...13,095,485
Ensembl chr15:13,015,854...13,095,292 		JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIC ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr18:24,747,812...24,783,704
Ensembl chr18:24,747,832...24,783,110 		JBrowse link
Usher syndrome type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO
ISS 		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D
OMIM:611383 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:16199547 More... NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
Usher syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISS
ISO 		ClinVar Annotator: match by term: Usher syndrome type 3 MouseDO
ClinVar		 PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr 2:145,233,941...145,280,855
Ensembl chr 2:145,233,941...145,280,855 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712 		JBrowse link
Usher syndrome type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO
ISS 		ClinVar Annotator: match by term: CLRN1-related condition | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A
OMIM:276902 		ClinVar
MouseDO
OMIM
RGD		 PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:15521980 More... RGD:634439 NCBI chr 2:145,233,941...145,280,855
Ensembl chr 2:145,233,941...145,280,855 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 3A ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 More... NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712 		JBrowse link
Usher Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 More... NCBI chr10:94,912,094...95,063,021
Ensembl chr10:94,913,152...95,042,447 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
X-linked cone-rod dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pbx3 PBX homeobox 3 ISO ClinVar Annotator: match by term: X-linked cone-rod dystrophy ClinVar NCBI chr 3:37,886,241...38,079,956
Ensembl chr 3:37,886,687...38,079,895 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO
ISS 		DNA:deletions, insertion, snp:cds:multiple (human)
ClinVar Annotator: match by term: X-linked cone-rod dystrophy | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1
OMIM:304020
DNA:deletions:exon:g.47192_47206del15, g.47841_47842delGG (human) 		ClinVar
MouseDO
OMIM
RGD		 PMID:8673101 PMID:10480356 PMID:10482958 PMID:10932196 PMID:10937588 More... RGD:8553225, RGD:8553232, RGD:8553227 NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
X-linked cone-rod dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: X-linked cone-rod dystrophy 3
CTD Direct Evidence: marker/mechanism
DNA:mutation:intron: IVS28¿¿¿1 GCGTC>TGG(human) 		OMIM
ClinVar
CTD
RGD		 PMID:9662399 PMID:11281458 PMID:12111638 PMID:15897456 PMID:16199547 More... RGD:13782380 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:17,539,920...17,568,308 		JBrowse link
X-linked retinitis pigmentosa and sinorespiratory infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1733835 PMID:8673101 PMID:10094550 PMID:14627685 PMID:16055928 More... NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    sensory system disease 4800
      eye disease 2086
        fundus dystrophy 453
          Bothnia retinal dystrophy 1
          Boucher-Neuhauser syndrome 2
          Ghose Sachdev Kumar Syndrome 0
          Myoectodermal Gonadal Dysgenesis Syndrome 2
          Pseudoinflammatory Fundus Dystrophy, Finnish Type 0
          RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 1
          RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 17
          RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 1
          Reticular Pigmentary Retinal Dystrophy of Posterior Pole 0
          Retinal Dystrophy and Microvillus Inclusion Disease 1
          Retinal Dystrophy and Obesity 1
          Retinal Dystrophy with or without Macular Staphyloma 1
          Retinal Dystrophy, Early Onset Severe + 17
          Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 1
          Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 1
          Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 1
          cone-rod dystrophy + 79
          dominant pericentral pigmentary retinopathy 0
          dystrophies primarily involving the retinal pigment epithelium + 7
          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 + 384
          vitreoretinal dystrophy 0
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        Neurologic Manifestations 5934
          sensory system disease 4800
            eye disease 2086
              retinal disease 848
                retinal degeneration 590
                  fundus dystrophy 453
                    Bothnia retinal dystrophy 1
                    Boucher-Neuhauser syndrome 2
                    Ghose Sachdev Kumar Syndrome 0
                    Myoectodermal Gonadal Dysgenesis Syndrome 2
                    Pseudoinflammatory Fundus Dystrophy, Finnish Type 0
                    RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 1
                    RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 17
                    RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 1
                    Reticular Pigmentary Retinal Dystrophy of Posterior Pole 0
                    Retinal Dystrophy and Microvillus Inclusion Disease 1
                    Retinal Dystrophy and Obesity 1
                    Retinal Dystrophy with or without Macular Staphyloma 1
                    Retinal Dystrophy, Early Onset Severe + 17
                    Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 1
                    Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 1
                    Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 1
                    cone-rod dystrophy + 79
                    dominant pericentral pigmentary retinopathy 0
                    dystrophies primarily involving the retinal pigment epithelium + 7
                    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 + 384
                    vitreoretinal dystrophy 0
paths to the root