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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.

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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 ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:248200 PMID:2552515 PMID:2811866 PMID:2916264 PMID:2955595 More... NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527 		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 chrNW_004936501:3,469,928...3,508,577 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 chrNW_004936620:451,216...531,353
Ensembl chrNW_004936620:451,174...531,454 		JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936484:2,224,308...2,268,302
Ensembl chrNW_004936484:2,225,659...2,271,668 		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 chrNW_004936492:407,482...452,538
Ensembl chrNW_004936492:407,482...452,537 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695 		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 chrNW_004936475:25,698,117...25,831,291
Ensembl chrNW_004936475:25,699,840...25,831,284 		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 chrNW_004936477:6,531,506...6,637,628
Ensembl chrNW_004936477:6,531,501...6,638,135 		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 chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:33523960 NCBI chrNW_004936567:1,658,405...1,674,794
Ensembl chrNW_004936567:1,658,383...1,676,199 		JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936626:150,953...189,980
Ensembl chrNW_004936626:150,974...189,218 		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 chrNW_004936493:5,470,623...5,488,542
Ensembl chrNW_004936493:5,469,449...5,488,549 		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 chrNW_004936560:2,881,631...3,057,256
Ensembl chrNW_004936560:2,881,977...3,038,725 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936546:3,737,908...3,783,492
Ensembl chrNW_004936546:3,737,851...3,783,588 		JBrowse link
G Aipl1 AIP like 1 HSP90 co-chaperone ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3257969 PMID:3442652 PMID:9536098 PMID:10615133 PMID:10873396 More... NCBI chrNW_004936677:1,539,502...1,548,343
Ensembl chrNW_004936677:1,538,874...1,548,010 		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 chrNW_004936491:17,152,759...17,342,648 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 chrNW_004936765:1,112,333...1,123,244
Ensembl chrNW_004936765:1,111,882...1,123,316 		JBrowse link
G Arfgef1 ARF guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936496:6,807,388...6,914,960
Ensembl chrNW_004936496:6,807,403...6,914,987 		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 chrNW_004936588:4,522,517...4,572,551
Ensembl chrNW_004936588:4,514,691...4,572,518 		JBrowse link
G Arid5a AT-rich interaction domain 5A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chrNW_004936744:539,150...545,021
Ensembl chrNW_004936744:537,168...546,017 		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 chrNW_004936475:9,343,333...9,352,089
Ensembl chrNW_004936475:9,343,336...9,352,065 		JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:33748123 NCBI chrNW_004936600:3,190,212...3,229,831
Ensembl chrNW_004936600:3,190,208...3,232,755 		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 chrNW_004936666:3,077,006...3,102,469
Ensembl chrNW_004936666:3,076,778...3,103,649 		JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936541:7,664,241...7,782,762
Ensembl chrNW_004936541:7,703,214...7,782,799 		JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936581:823,665...847,579
Ensembl chrNW_004936581:821,771...847,704 		JBrowse link
G Astn2 astrotactin 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chrNW_004936487:5,409,413...5,854,418
Ensembl chrNW_004936487:5,409,287...5,916,553 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30202406 NCBI chrNW_004937131:170,649...183,942 JBrowse link
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 More... NCBI chrNW_004936477:22,416,505...22,417,543
Ensembl chrNW_004936477:22,416,539...22,417,543 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:33528079 NCBI chrNW_004936529:245,134...264,456
Ensembl chrNW_004936529:245,092...264,351 		JBrowse link
G Atxn7 ataxin 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936637:2,422,260...2,508,681
Ensembl chrNW_004936637:2,426,498...2,508,686 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:3646071 PMID:9536098 PMID:12118255 PMID:12524598 More... NCBI chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299 		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 chrNW_004936568:4,640,611...4,644,627
Ensembl chrNW_004936568:4,638,637...4,644,502 		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 chrNW_004936662:1,822,727...1,832,403
Ensembl chrNW_004936662:1,830,137...1,832,263 		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 chrNW_004936475:8,785,914...8,810,490
Ensembl chrNW_004936475:8,785,154...8,810,541 		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 chrNW_004936471:31,962,500...32,019,516
Ensembl chrNW_004936471:31,962,336...32,020,712 		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 chrNW_004936509:25,263...45,113
Ensembl chrNW_004936509:25,602...45,145 		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 chrNW_004936662:1,081,237...1,116,719
Ensembl chrNW_004936662:1,080,295...1,116,636 		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 chrNW_004936478:8,959,198...9,408,683
Ensembl chrNW_004936478:8,959,121...9,408,714 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:218785 PMID:1937259 PMID:2133066 PMID:2388086 PMID:2508288 More... NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1258954 PMID:2984763 PMID:3196484 PMID:3394928 PMID:9536098 More... NCBI chrNW_004936542:4,269,636...4,271,497
Ensembl chrNW_004936542:4,269,636...4,271,610 		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 chrNW_004936588:3,985,732...4,023,221 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 chrNW_004936490:1,764,845...1,773,752
Ensembl chrNW_004936490:1,764,795...1,774,645 		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 chrNW_004936599:2,295,124...2,299,558
Ensembl chrNW_004936599:2,293,000...2,300,322 		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 chrNW_004936721:1,078,570...1,106,153
Ensembl chrNW_004936721:1,078,650...1,106,113 		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 chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167 		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 chrNW_004936498:5,692,910...5,747,329
Ensembl chrNW_004936498:5,692,867...5,748,416 		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 chrNW_004936477:12,315,829...12,415,915
Ensembl chrNW_004936477:12,315,799...12,408,603 		JBrowse link
G Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936529:228,135...239,343
Ensembl chrNW_004936529:227,969...239,349 		JBrowse link
G Cct2 chaperonin containing TCP1 subunit 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936545:7,416,257...7,436,024
Ensembl chrNW_004936545:7,415,753...7,439,800 		JBrowse link
G Cd63 CD63 molecule ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10369264 PMID:10617778 PMID:11053295 PMID:11675386 PMID:17476461 More... NCBI chrNW_004936646:196,002...199,177
Ensembl chrNW_004936646:191,128...199,777 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12445216 PMID:14708629 PMID:15805154 PMID:16199547 PMID:17342797 More... NCBI chrNW_004936475:18,908,031...18,954,402
Ensembl chrNW_004936475:18,906,493...18,955,072 		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 chrNW_004936767:805,910...829,838
Ensembl chrNW_004936767:805,558...827,712 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:346243 PMID:346456 PMID:618178 PMID:2006133 PMID:2505445 More... NCBI chrNW_004936844:101,815...271,254
Ensembl chrNW_004936844:160,833...271,901 		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 chrNW_004936542:2,544,677...2,609,753
Ensembl chrNW_004936542:2,544,665...2,609,792 		JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24780881 PMID:25741868 PMID:28005958 PMID:28492532 PMID:29718797 NCBI chrNW_004936561:5,283,258...5,331,688
Ensembl chrNW_004936561:5,280,959...5,322,038 		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 chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422 		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 chrNW_004936503:13,524,981...13,537,449 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 chrNW_004936509:10,294,247...10,404,743
Ensembl chrNW_004936509:10,294,988...10,404,609 		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 chrNW_004936500:82,702...90,525
Ensembl chrNW_004936500:82,716...90,523 		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 chrNW_004936544:8,170,841...8,192,896
Ensembl chrNW_004936544:8,170,081...8,192,835 		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 chrNW_004936547:6,368,941...6,533,199
Ensembl chrNW_004936547:6,368,918...6,533,237 		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 chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		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 chrNW_004936704:518,040...539,526
Ensembl chrNW_004936704:517,707...539,585 		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 chrNW_004936501:11,955,334...11,967,338
Ensembl chrNW_004936501:11,955,184...11,967,436 		JBrowse link
G Cln5 CLN5 intracellular trafficking protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936511:4,283,016...4,291,968
Ensembl chrNW_004936511:4,283,009...4,292,376 		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 chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936694:779,399...810,534
Ensembl chrNW_004936694:780,197...810,457 		JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7479749 PMID:12362048 PMID:23462753 PMID:24033266 PMID:24154662 More... NCBI chrNW_004936482:14,091,343...14,107,793
Ensembl chrNW_004936482:14,091,913...14,107,787 		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 chrNW_004936744:1,499,431...1,537,784
Ensembl chrNW_004936744:1,514,821...1,540,580 		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 chrNW_004936475:9,844,438...9,908,009 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 chrNW_004936544:1,166,896...1,305,339
Ensembl chrNW_004936544:1,166,508...1,305,457 		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 chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835 		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 chrNW_004936730:466,912...680,823
Ensembl chrNW_004936730:468,039...680,753 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chrNW_004936476:25,663,563...25,692,315
Ensembl chrNW_004936476:25,663,755...25,691,344 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12415512 PMID:12766032 PMID:19160445 PMID:19390655 PMID:20799329 More... NCBI chrNW_004936778:847,473...943,038 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 chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936618:2,176,328...2,260,000
Ensembl chrNW_004936618:2,176,240...2,260,000 		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 chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766 		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 chrNW_004936496:6,915,840...7,036,205
Ensembl chrNW_004936496:6,915,281...7,034,124 		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 chrNW_004936531:7,865,907...8,036,020
Ensembl chrNW_004936531:7,865,820...8,037,935 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28285769 PMID:28492532 NCBI chrNW_004936480:4,090,005...4,305,770
Ensembl chrNW_004936480:4,090,005...4,305,632 		JBrowse link
G Cygb cytoglobin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:16938425 PMID:20507925 PMID:23661369 PMID:23805042 More... NCBI chrNW_004936594:1,602,436...1,613,783
Ensembl chrNW_004936594:1,604,710...1,613,783 		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 chrNW_004936474:10,914,018...10,949,138
Ensembl chrNW_004936474:10,913,903...10,950,095 		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 chrNW_004936475:21,811,693...21,830,560
Ensembl chrNW_004936475:21,811,463...21,830,577 		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 chrNW_004936543:2,895,771...2,897,761
Ensembl chrNW_004936543:2,897,068...2,897,745 		JBrowse link
G Dnm1l dynamin 1 like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936607:3,576,357...3,632,423
Ensembl chrNW_004936607:3,576,392...3,632,554 		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 chrNW_004936704:2,488,370...2,513,042
Ensembl chrNW_004936704:2,490,902...2,505,547 		JBrowse link
G Dthd1 death domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936482:4,603,473...4,661,598
Ensembl chrNW_004936482:4,603,473...4,661,118 		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 chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936487:16,142,659...16,157,929
Ensembl chrNW_004936487:16,142,658...16,157,804 		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 chrNW_004936491:2,159,654...2,214,480
Ensembl chrNW_004936491:2,159,096...2,214,677 		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 chrNW_004936510:10,246,901...10,276,049
Ensembl chrNW_004936510:10,246,356...10,276,753 		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 chrNW_004936474:5,512,100...5,539,198
Ensembl chrNW_004936474:5,511,661...5,539,237 		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 chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993 		JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936487:17,675,401...17,686,224
Ensembl chrNW_004936487:17,675,303...17,687,943 		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 chrNW_004936491:7,202,877...7,221,493
Ensembl chrNW_004936491:7,212,194...7,221,618 		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 chrNW_004936733:136,374...200,106
Ensembl chrNW_004936733:137,207...209,473 		JBrowse link
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936594:215,165...223,715
Ensembl chrNW_004936594:215,155...223,771 		JBrowse link
G Fer1l5 fer-1 like family member 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chrNW_004936744:611,691...664,813 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 chrNW_004936557:693,445...727,166
Ensembl chrNW_004936557:692,489...726,965 		JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936691:2,664,968...2,756,300
Ensembl chrNW_004936691:2,701,546...2,755,980 		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 chrNW_004936594:5,184,133...5,195,340
Ensembl chrNW_004936594:5,184,628...5,191,985 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2133066 PMID:10394929 PMID:10453731 PMID:10737974 PMID:10788642 More... NCBI chrNW_004936581:1,118,905...1,120,592 JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3539449 PMID:14507768 PMID:15035989 PMID:15223780 PMID:15370539 More... NCBI chrNW_004936498:14,657,641...14,666,853
Ensembl chrNW_004936498:14,662,659...14,666,883 		JBrowse link
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9398847 PMID:16086329 PMID:16141001 PMID:21031596 PMID:25741868 More... NCBI chrNW_004936803:1,348,238...1,361,566 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 chrNW_004936470:46,361,528...46,379,576
Ensembl chrNW_004936470:46,361,451...46,377,594 		JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:18179896 PMID:21763485 PMID:23255580 PMID:23977131 PMID:25741868 More... NCBI chrNW_004936525:4,301,003...4,432,125
Ensembl chrNW_004936525:4,304,629...4,403,089 		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 chrNW_004936529:1,735,258...1,740,297
Ensembl chrNW_004936529:1,735,440...1,742,567 		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 chrNW_004936704:1,079,255...1,093,732
Ensembl chrNW_004936704:1,084,587...1,093,691 		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 chrNW_004936709:970,169...977,059
Ensembl chrNW_004936709:970,172...976,863 		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 chrNW_004936694:2,529,634...2,540,474
Ensembl chrNW_004936694:2,529,640...2,540,328 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 More... NCBI chrNW_004936495:9,970,683...10,565,467
Ensembl chrNW_004936495:9,972,007...10,564,591 		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 chrNW_004936490:13,801,514...13,818,666
Ensembl chrNW_004936490:13,803,303...13,818,533 		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 chrNW_004936472:152,202...165,134
Ensembl chrNW_004936472:151,854...165,281 		JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11874764 PMID:15781871 PMID:16622103 PMID:19862333 PMID:22008250 More... NCBI chrNW_004936739:1,726,382...1,742,937
Ensembl chrNW_004936739:1,727,808...1,741,400 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2552515 PMID:2635877 PMID:9425234 PMID:9651312 PMID:9702199 More... NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3134521 PMID:15452722 PMID:24352742 PMID:25741868 PMID:26161267 More... NCBI chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1512399 PMID:3636964 PMID:8554074 PMID:9618177 PMID:10676808 More... NCBI chrNW_004936595:1,235,747...1,250,294
Ensembl chrNW_004936595:1,235,711...1,250,354 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936531:9,625,206...9,633,463
Ensembl chrNW_004936531:9,624,927...9,632,611 		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 chrNW_004936570:257,636...297,797
Ensembl chrNW_004936570:258,820...297,762 		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 chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793 		JBrowse link
G Hmx1 H6 family homeobox 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936477:19,958,786...19,962,657
Ensembl chrNW_004936477:19,959,376...19,962,663 		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 chrNW_004936471:36,823,003...36,842,576
Ensembl chrNW_004936471:36,822,971...36,842,610 		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 chrNW_004936485:16,033,287...16,038,097
Ensembl chrNW_004936485:16,033,128...16,042,821 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282595 More... NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520 		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 chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936492:4,077,957...4,089,898
Ensembl chrNW_004936492:4,077,615...4,090,197 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936611:2,588,711...2,660,496
Ensembl chrNW_004936611:2,588,695...2,660,532 		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 chrNW_004936558:3,177,418...3,251,439
Ensembl chrNW_004936558:3,179,951...3,250,870 		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 chrNW_004936479:15,523,342...15,540,229
Ensembl chrNW_004936479:15,523,037...15,540,173 		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 chrNW_004936788:1,258,547...1,401,910
Ensembl chrNW_004936788:1,268,614...1,401,998 		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 chrNW_004936630:1,982,860...2,069,472
Ensembl chrNW_004936630:1,982,783...2,071,953 		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 chrNW_004936669:1,377,005...1,385,287 JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24610927 PMID:25741868 PMID:28492532 NCBI chrNW_004936524:8,470,958...8,612,835
Ensembl chrNW_004936524:8,476,574...8,611,620 		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 chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708 		JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29555955 PMID:32531858 NCBI chrNW_004936509:10,215,283...10,293,653
Ensembl chrNW_004936509:10,215,283...10,292,252 		JBrowse link
G Itpripl1 ITPRIP like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chrNW_004936744:425,206...428,220
Ensembl chrNW_004936744:426,516...428,156 		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 chrNW_004936485:8,857,688...8,894,270
Ensembl chrNW_004936485:8,857,669...8,895,315 		JBrowse link
G Kansl3 KAT8 regulatory NSL complex subunit 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chrNW_004936744:565,950...606,654
Ensembl chrNW_004936744:566,956...606,661 		JBrowse link
G Kcnj13 potassium inwardly rectifying channel subfamily J member 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:18179896 PMID:21763485 PMID:23255580 PMID:23977131 PMID:25741868 More... NCBI chrNW_004936525:4,361,755...4,374,130
Ensembl chrNW_004936525:4,362,376...4,374,414 		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 chrNW_004936503:2,320,570...2,332,833
Ensembl chrNW_004936503:2,319,617...2,332,971 		JBrowse link
G Kiaa0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chrNW_004936495:2,799,738...2,933,157
Ensembl chrNW_004936495:2,800,384...2,931,856 		JBrowse link
G Kiaa1549 KIAA1549 ortholog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936592:3,132,166...3,215,835
Ensembl chrNW_004936592:3,132,703...3,275,199 		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 chrNW_004936601:2,163,316...2,213,674
Ensembl chrNW_004936601:2,163,795...2,213,588 		JBrowse link
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936485:19,180,751...19,198,321
Ensembl chrNW_004936485:19,180,571...19,198,429 		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 chrNW_004936620:4,188,350...4,310,708
Ensembl chrNW_004936620:4,185,898...4,310,738 		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 chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936493:5,145,237...5,146,904
Ensembl chrNW_004936493:5,142,970...5,146,778 		JBrowse link
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:34547244 NCBI chrNW_004936670:359,343...511,126
Ensembl chrNW_004936670:359,582...484,539 		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 chrNW_004936510:10,652,378...10,702,761
Ensembl chrNW_004936510:10,671,297...10,703,618 		JBrowse link
G Lman2l lectin, mannose binding 2 like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chrNW_004936744:665,893...691,335
Ensembl chrNW_004936744:664,733...691,347 		JBrowse link
G LOC101957489 zinc finger protein 454 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11874764 PMID:15781871 PMID:16622103 PMID:19862333 PMID:22008250 More... NCBI chrNW_004936739:1,752,999...1,772,705
Ensembl chrNW_004936739:1,779,507...1,800,190
Ensembl chrNW_004936739:1,779,507...1,800,190 		JBrowse link
G LOC101960714 cone-rod homeobox protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2098109 PMID:9427255 PMID:9792858 PMID:9931337 PMID:10766140 More... NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234 		JBrowse link
G LOC101963575 eyes shut homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2033377 PMID:3107476 PMID:3196484 PMID:3248392 PMID:3253185 More... NCBI chrNW_004936476:158,391...1,289,639 JBrowse link
G LOC101967774 cytochrome P450 4V2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:15042513 PMID:15937078 PMID:16088246 PMID:16179904 More... NCBI chrNW_004936554:3,272,139...3,293,288
Ensembl chrNW_004936554:3,272,073...3,293,564 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2706105 PMID:3442652 PMID:9536098 PMID:11138009 PMID:11857743 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		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 chrNW_004936576:1,491,480...1,498,568
Ensembl chrNW_004936576:1,492,297...1,501,917 		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 chrNW_004936563:1,036,079...1,054,778
Ensembl chrNW_004936563:1,035,940...1,053,766 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 PMID:28492532 NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935 		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 chrNW_004936599:1,746,309...1,814,471
Ensembl chrNW_004936599:1,746,406...1,814,321 		JBrowse link
G Lztfl1 leucine zipper transcription factor like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936695:106,216...118,408
Ensembl chrNW_004936695:106,175...121,606 		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 chrNW_004936534:2,170,853...2,239,647
Ensembl chrNW_004936534:2,170,794...2,224,065 		JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936529:2,130,421...2,159,859
Ensembl chrNW_004936529:2,130,252...2,160,313 		JBrowse link
G Mcat malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936718:970,342...978,836
Ensembl chrNW_004936718:970,339...978,851 		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 chrNW_004936588:4,600,344...4,608,793
Ensembl chrNW_004936588:4,600,344...4,608,787 		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 chrNW_004936783:607,425...704,879
Ensembl chrNW_004936783:607,382...704,889 		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 chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1258954 PMID:2984763 PMID:3196484 PMID:3394928 PMID:9536098 More... NCBI chrNW_004936542:4,272,250...4,277,231
Ensembl chrNW_004936542:4,272,264...4,277,252 		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 chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830 		JBrowse link
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:29177109 NCBI chrNW_004936492:2,118,565...2,132,181
Ensembl chrNW_004936492:2,117,790...2,131,220 		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 chrNW_004936485:9,089,118...9,114,396
Ensembl chrNW_004936485:9,088,963...9,115,175 		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 chrNW_004936490:4,865,243...4,876,601
Ensembl chrNW_004936490:4,865,243...4,878,912 		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 chrNW_004936474:26,636,277...26,641,486
Ensembl chrNW_004936474:26,636,245...26,641,486 		JBrowse link
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936613:3,836,461...3,865,240
Ensembl chrNW_004936613:3,836,308...3,866,542 		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 chrNW_004936769:1,274,595...1,295,186
Ensembl chrNW_004936769:1,274,540...1,298,178 		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 chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		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 chrNW_004936599:4,305,669...4,316,443
Ensembl chrNW_004936599:4,305,669...4,316,035 		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 chrNW_004936493:14,940,592...15,241,209
Ensembl chrNW_004936493:14,943,926...15,241,070 		JBrowse link
G Ncaph non-SMC condensin I complex subunit H ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chrNW_004936744:440,958...468,964
Ensembl chrNW_004936744:440,956...468,972 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1307245 PMID:3486024 PMID:3646071 PMID:7558002 PMID:7627181 More... NCBI chrNW_004936502:10,080,169...10,105,155
Ensembl chrNW_004936502:10,080,145...10,105,328 		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 chrNW_004936557:1,683,027...1,695,410
Ensembl chrNW_004936557:1,682,984...1,695,414 		JBrowse link
G Neurl3 neuralized E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chrNW_004936744:499,897...501,976 JBrowse link
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936509:10,421,821...10,425,927
Ensembl chrNW_004936509:10,423,126...10,424,196 		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 chrNW_004936623:3,862,234...3,891,849
Ensembl chrNW_004936623:3,870,031...3,891,849 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936529:6,013,321...6,048,249
Ensembl chrNW_004936529:6,009,301...6,049,447 		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 chrNW_004936623:802,152...904,198 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 chrNW_004936471:31,229,322...31,236,093
Ensembl chrNW_004936471:31,229,564...31,235,654 		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 chrNW_004936523:9,508,204...9,517,266
Ensembl chrNW_004936523:9,507,965...9,517,272 		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 chrNW_004936722:448,006...454,064
Ensembl chrNW_004936722:447,967...454,553 		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 chrNW_004936502:7,890,582...7,909,157
Ensembl chrNW_004936502:7,890,535...7,910,986 		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 chrNW_004936486:12,723,363...12,743,367
Ensembl chrNW_004936486:12,723,305...12,743,422 		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 chrNW_004936470:3,292,961...3,331,915
Ensembl chrNW_004936470:3,292,249...3,331,800 		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 chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		JBrowse link
G Osbpl8 oxysterol binding protein like 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20472660 PMID:22773737 PMID:25741868 PMID:25982971 PMID:27486776 More... NCBI chrNW_004936568:4,646,409...4,806,283
Ensembl chrNW_004936568:4,646,426...4,806,308 		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 chrNW_004936495:1,433,124...1,449,409
Ensembl chrNW_004936495:1,432,598...1,442,918 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12510040 PMID:25741868 PMID:28492532 NCBI chrNW_004936485:14,785,050...14,804,258
Ensembl chrNW_004936485:14,785,467...14,811,117 		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 chrNW_004936600:4,850,594...4,939,010
Ensembl chrNW_004936600:4,850,552...4,928,214 		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 chrNW_004936493:3,768,032...3,781,511
Ensembl chrNW_004936493:3,768,688...3,777,634 		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 chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		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 chrNW_004936784:884,751...938,901
Ensembl chrNW_004936784:884,751...938,282 		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 chrNW_004936504:5,018,171...5,088,333
Ensembl chrNW_004936504:5,018,064...5,092,024 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3145629 PMID:3203739 PMID:3253185 PMID:7724547 PMID:8394174 More... NCBI chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185 		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 chrNW_004936601:1,343,538...1,393,605
Ensembl chrNW_004936601:1,341,658...1,393,377 		JBrowse link
G Pde6g phosphodiesterase 6G ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:36819107 NCBI chrNW_004936594:5,263,345...5,267,240
Ensembl chrNW_004936594:5,263,333...5,267,476 		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 chrNW_004936587:2,505,755...2,514,103
Ensembl chrNW_004936587:2,506,585...2,514,157 		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 chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107 		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 chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936807:1,035,733...1,046,225
Ensembl chrNW_004936807:1,035,643...1,046,316 		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 chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		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 chrNW_004936560:4,237,691...4,302,655
Ensembl chrNW_004936560:4,237,642...4,303,286 		JBrowse link
G Phf3 PHD finger protein 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 More... NCBI chrNW_004936476:1,295,697...1,380,608
Ensembl chrNW_004936476:1,296,423...1,368,411 		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 chrNW_004936677:1,451,974...1,528,864
Ensembl chrNW_004936677:1,430,391...1,529,484 		JBrowse link
G Plk4 polo like kinase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936642:2,837,041...2,855,369
Ensembl chrNW_004936642:2,837,022...2,855,103 		JBrowse link
G Pnpla6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2557489 PMID:3963113 PMID:8053762 PMID:16199547 PMID:18313024 More... NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		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 chrNW_004936507:6,375,009...6,457,034
Ensembl chrNW_004936507:6,376,350...6,456,932 		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 chrNW_004936549:1,065,495...1,111,642
Ensembl chrNW_004936549:1,065,475...1,114,496 		JBrowse link
G Polr3h RNA polymerase III subunit H ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:34056600 NCBI chrNW_004936492:395,348...407,588
Ensembl chrNW_004936492:395,309...407,076 		JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3123072 PMID:11709191 PMID:12588800 PMID:12849864 PMID:15236414 More... NCBI chrNW_004936474:27,229,262...27,239,034
Ensembl chrNW_004936474:27,229,113...27,239,123 		JBrowse link
G Prcd photoreceptor disc component ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:16938425 PMID:20507925 PMID:23661369 PMID:23805042 More... NCBI chrNW_004936594:1,615,165...1,628,455
Ensembl chrNW_004936594:1,616,794...1,619,049 		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 chrNW_004936651:1,199,928...1,208,697
Ensembl chrNW_004936651:1,200,089...1,207,872 		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 chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177 		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 chrNW_004936666:18,303...110,357
Ensembl chrNW_004936666:19,387...110,014 		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 chrNW_004936580:604,709...632,788
Ensembl chrNW_004936580:605,138...633,104 		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:3123501 More... NCBI chrNW_004936994:239,688...252,269
Ensembl chrNW_004936994:239,682...252,317 		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 chrNW_004936559:305,443...321,051
Ensembl chrNW_004936559:305,392...321,080 		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 chrNW_004936514:11,175,410...11,220,928
Ensembl chrNW_004936514:11,175,526...11,220,241 		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 chrNW_004936538:7,780,022...7,814,575
Ensembl chrNW_004936538:7,780,022...7,814,575 		JBrowse link
G Prph2 peripherin 2 no_association ISO DNA:polymorphism:exon:p.E304Q,G338D(human)
ClinVar Annotator: match by term: Retinal dystrophy 		RGD
ClinVar		 PMID:279751 PMID:1427912 PMID:1684223 PMID:3441139 PMID:3646071 More... RGD:8553224 NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		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 chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3539449 PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 More... NCBI chrNW_004936498:14,560,730...14,563,195
Ensembl chrNW_004936498:14,560,765...14,561,913 		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 chrNW_004936477:14,066,063...14,140,310 JBrowse link
G Rax2 retina and anterior neural fold homeobox 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:25789692 PMID:28492532 PMID:30377383 PMID:34662339 NCBI chrNW_004936588:2,133,398...2,135,329
Ensembl chrNW_004936588:2,134,211...2,135,358 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chrNW_004936565:1,596,227...1,746,706
Ensembl chrNW_004936565:1,597,593...1,746,846 		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 chrNW_004936554:7,329,155...7,340,434
Ensembl chrNW_004936554:7,329,028...7,338,074 		JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936601:1,401,215...1,410,195
Ensembl chrNW_004936601:1,402,691...1,410,208 		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 chrNW_004936565:2,608,788...2,649,992
Ensembl chrNW_004936565:2,608,792...2,650,604 		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 chrNW_004936557:1,852,996...1,873,070
Ensembl chrNW_004936557:1,852,940...1,876,313 		JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936495:11,065,946...11,082,104
Ensembl chrNW_004936495:11,066,660...11,082,044 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 More... NCBI chrNW_004936495:11,111,247...11,121,976
Ensembl chrNW_004936495:11,111,105...11,121,341 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10369264 PMID:10617778 PMID:11053295 PMID:11675386 PMID:17476461 More... NCBI chrNW_004936646:191,136...195,279
Ensembl chrNW_004936646:191,128...199,777 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936588:800,492...804,769
Ensembl chrNW_004936588:799,414...809,852 		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 chrNW_004936767:855,811...866,941
Ensembl chrNW_004936767:855,856...866,554 		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 chrNW_004936541:7,472,195...7,525,220
Ensembl chrNW_004936541:7,458,539...7,525,220 		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 chrNW_004936570:3,042,233...3,043,884
Ensembl chrNW_004936570:3,042,773...3,043,480 		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 chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664 		JBrowse link
G Ric3 RIC3 acetylcholine receptor chaperone ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34906470 More... NCBI chrNW_004936528:9,790,594...9,829,120
Ensembl chrNW_004936528:9,790,463...9,825,777 		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 chrNW_004936618:3,678,400...4,047,994
Ensembl chrNW_004936618:3,606,524...4,047,711 		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 chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 More... NCBI chrNW_004936507:5,210,561...5,223,320
Ensembl chrNW_004936507:5,210,504...5,223,728 		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 chrNW_004936581:642,322...644,286
Ensembl chrNW_004936581:641,753...644,637 		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 chrNW_004936496:1,524,123...1,583,114 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 chrNW_004936675:2,527,406...2,564,464 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 chrNW_004936502:12,656,187...12,701,689
Ensembl chrNW_004936502:12,656,043...12,701,742 		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 chrNW_004936478:8,687,584...8,722,345 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2233437 PMID:3196484 PMID:9326927 PMID:9326941 PMID:9501220 More... NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:288634 PMID:349855 PMID:2552515 PMID:3200084 PMID:3214136 More... NCBI chrNW_004936502:5,163,164...5,212,940 JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2426569 PMID:3007274 PMID:3442652 PMID:9536098 PMID:11528500 More... NCBI chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685 		JBrowse link
G Rpgrip1l RPGRIP1 like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:25741868 PMID:28492532 PMID:29343940 NCBI chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618 		JBrowse link
G Rs1 retinoschisin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:30652 PMID:346243 PMID:346456 PMID:618178 PMID:2006133 More... NCBI chrNW_004936844:284,938...314,524
Ensembl chrNW_004936844:284,141...314,545 		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 chrNW_004936564:3,104,652...3,149,100
Ensembl chrNW_004936564:3,104,163...3,149,072 		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 chrNW_004936525:3,932,118...3,965,651
Ensembl chrNW_004936525:3,931,933...3,964,834 		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 chrNW_004936471:35,414,507...35,834,438
Ensembl chrNW_004936471:35,416,571...35,835,048 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936642:1,984,936...2,146,707
Ensembl chrNW_004936642:1,984,529...2,146,949 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936526:7,202,147...7,431,455
Ensembl chrNW_004936526:7,202,150...7,430,874 		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 chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185 		JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936588:2,642,730...2,654,520
Ensembl chrNW_004936588:2,642,859...2,653,742 		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 chrNW_004936594:4,195,217...4,203,802
Ensembl chrNW_004936594:4,193,983...4,204,008 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chrNW_004936778:823,376...846,843
Ensembl chrNW_004936778:829,550...848,833 		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 chrNW_004936471:25,872,854...25,909,102
Ensembl chrNW_004936471:25,872,423...25,908,158 		JBrowse link
G Slc25a46 solute carrier family 25 member 46 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936531:5,177,750...5,201,362
Ensembl chrNW_004936531:5,177,739...5,203,955 		JBrowse link
G Slc4a7 solute carrier family 4 member 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936473:18,550,489...18,645,470
Ensembl chrNW_004936473:18,550,484...18,645,628 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936602:233,753...274,982 JBrowse link
G Slc7a14 solute carrier family 7 member 14 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24670872 PMID:25741868 PMID:28492532 PMID:32036094 NCBI chrNW_004936593:1,938,392...2,045,639
Ensembl chrNW_004936593:1,991,491...2,044,329 		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 chrNW_004936488:15,878,167...15,911,301
Ensembl chrNW_004936488:15,878,158...15,911,415 		JBrowse link
G Spp2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936525:3,360,978...3,384,035
Ensembl chrNW_004936525:3,360,990...3,383,934 		JBrowse link
G Ssbp1 single stranded DNA binding protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936592:5,611,775...5,620,846
Ensembl chrNW_004936592:5,614,619...5,619,627 		JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2576658 PMID:8634721 PMID:19478078 PMID:19536307 PMID:23023527 More... NCBI chrNW_004936492:6,836,441...7,253,867
Ensembl chrNW_004936492:6,876,684...7,253,375 		JBrowse link
G Tead1 TEA domain transcription factor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936528:5,607,993...5,774,161
Ensembl chrNW_004936528:5,607,987...5,856,678 		JBrowse link
G Tead3 TEA domain transcription factor 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9462750 PMID:25741868 PMID:26427415 PMID:26987071 PMID:28492532 More... NCBI chrNW_004936476:23,766,021...23,776,785
Ensembl chrNW_004936476:23,766,012...23,779,349 		JBrowse link
G Tfpt TCF3 fusion partner ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3616425 PMID:17003455 PMID:24319336 PMID:25741868 PMID:26197217 More... NCBI chrNW_004936994:234,978...239,425
Ensembl chrNW_004936994:234,992...239,425 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2576658 PMID:8634721 PMID:19478078 PMID:19536307 PMID:23023527 More... NCBI chrNW_004936492:6,996,627...7,046,137
Ensembl chrNW_004936492:6,996,613...7,046,190 		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 chrNW_004936581:1,654,021...1,658,526
Ensembl chrNW_004936581:1,653,961...1,658,544 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936726:872,368...892,185
Ensembl chrNW_004936726:869,238...891,283 		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 chrNW_004936524:1,219,101...1,229,937
Ensembl chrNW_004936524:1,219,907...1,229,723 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:33528079 NCBI chrNW_004936529:264,535...266,451
Ensembl chrNW_004936529:264,468...266,422 		JBrowse link
G Trim32 tripartite motif containing 32 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:4269389 PMID:10399877 PMID:11822024 PMID:15786463 PMID:15886712 More... NCBI chrNW_004936487:5,606,690...5,619,856
Ensembl chrNW_004936487:5,606,693...5,619,856 		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 chrNW_004936577:2,814,464...2,834,068
Ensembl chrNW_004936577:2,814,390...2,832,790 		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 chrNW_004936483:723,784...856,839
Ensembl chrNW_004936483:724,018...858,855 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3123072 PMID:11709191 PMID:12588800 PMID:12849864 PMID:15236414 More... NCBI chrNW_004936474:27,221,691...27,227,226
Ensembl chrNW_004936474:27,221,586...27,227,015 		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 chrNW_004936605:4,265,475...4,338,518
Ensembl chrNW_004936605:4,265,316...4,338,526 		JBrowse link
G Ttc21b tetratricopeptide repeat domain 21B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:18327258 PMID:18414213 PMID:21068128 PMID:21258341 PMID:23559409 More... NCBI chrNW_004936469:13,365,168...13,454,340
Ensembl chrNW_004936469:13,365,087...13,454,340 		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 chrNW_004936488:16,258,247...16,306,077
Ensembl chrNW_004936488:16,258,058...16,306,589 		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 chrNW_004936488:4,723,314...4,983,926
Ensembl chrNW_004936488:4,724,909...4,983,318 		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 chrNW_004936496:10,409,948...10,466,722
Ensembl chrNW_004936496:10,454,605...10,465,301 		JBrowse link
G Tub TUB bipartite transcription factor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:34906470 More... NCBI chrNW_004936528:9,829,889...9,912,645
Ensembl chrNW_004936528:9,834,954...9,855,080 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936471:6,542,295...6,588,484
Ensembl chrNW_004936471:6,541,713...6,591,692 		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 chrNW_004936629:568,014...587,726
Ensembl chrNW_004936629:568,067...587,554 		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 chrNW_004936476:23,744,707...23,757,002
Ensembl chrNW_004936476:23,744,757...23,756,565 		JBrowse link
G Ubap1l ubiquitin associated protein 1 like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chrNW_004936471:25,411,891...25,431,264
Ensembl chrNW_004936471:25,410,482...25,431,424 		JBrowse link
G Ubr2 ubiquitin protein ligase E3 component n-recognin 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23591405 PMID:25741868 PMID:32531858 PMID:34411390 NCBI chrNW_004936476:17,178,981...17,322,600
Ensembl chrNW_004936476:17,181,214...17,322,163 		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 chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		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 chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		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 chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
G Usp45 ubiquitin specific peptidase 45 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:31345219 NCBI chrNW_004936651:1,031,328...1,119,344
Ensembl chrNW_004936651:1,037,804...1,119,399 		JBrowse link
G Vcan versican ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16043844 PMID:16877430 PMID:21738396 PMID:22739342 PMID:25741868 More... NCBI chrNW_004936469:2,585,142...2,688,029
Ensembl chrNW_004936469:2,585,134...2,688,029 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805 		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 chrNW_004936491:8,238,644...8,749,172
Ensembl chrNW_004936491:8,239,284...8,485,636 		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 chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979 		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 chrNW_004936477:18,339,915...18,364,973
Ensembl chrNW_004936477:18,339,827...18,364,998 		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 chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238 		JBrowse link
G Yme1l1 YME1 like 1 ATPase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936484:2,306,937...2,352,671
Ensembl chrNW_004936484:2,306,760...2,353,507 		JBrowse link
G Zdhhc24 zDHHC palmitoyltransferase 24 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 More... NCBI chrNW_004936599:3,047,011...3,054,512
Ensembl chrNW_004936599:3,047,011...3,054,498 		JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 More... NCBI chrNW_004936495:11,132,025...11,191,446
Ensembl chrNW_004936495:11,134,138...11,190,863 		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 chrNW_004936562:2,394,368...2,400,924
Ensembl chrNW_004936562:2,393,751...2,400,650 		JBrowse link
G Znf423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30868567 NCBI chrNW_004936475:2,699,722...2,956,734
Ensembl chrNW_004936475:2,699,702...3,010,912 		JBrowse link
G Znf513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936493:5,203,926...5,207,031
Ensembl chrNW_004936493:5,204,020...5,207,025 		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 ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome
DNA:frameshift mutations, nonsense mutations 		OMIM
ClinVar
RGD		 PMID:2440063 PMID:2871766 PMID:9063741 PMID:9409865 PMID:9536098 More... RGD:1601169 NCBI chrNW_004936491:17,152,759...17,342,648 JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:17,017,687...17,033,526
Ensembl chrNW_004936491:17,017,687...17,033,855 		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 chrNW_004936631:484,356...489,643
Ensembl chrNW_004936631:484,356...489,643 		JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:17,068,797...17,071,608
Ensembl chrNW_004936491:17,069,325...17,071,226 		JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:16,745,310...16,762,422
Ensembl chrNW_004936491:16,745,310...16,762,422 		JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:17,035,988...17,048,165
Ensembl chrNW_004936491:17,034,169...17,061,752 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Alstrom's syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29255176 PMID:31696929 NCBI chrNW_004936527:6,380,222...6,412,390
Ensembl chrNW_004936527:6,379,669...6,412,390 		JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:16,987,797...16,996,423
Ensembl chrNW_004936491:16,987,642...16,996,579 		JBrowse link
G Pradc1 protease associated domain containing 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:17,011,999...17,016,773
Ensembl chrNW_004936491:17,009,723...17,016,784 		JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:16,883,972...16,919,539
Ensembl chrNW_004936491:16,886,065...16,919,545 		JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:16,769,960...16,882,776
Ensembl chrNW_004936491:16,769,979...16,882,781 		JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:16,997,962...17,011,470
Ensembl chrNW_004936491:16,997,962...17,011,551 		JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chrNW_004936491:16,693,940...16,699,040 JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936619:3,934,791...3,973,695
Ensembl chrNW_004936619:3,934,314...3,975,240 		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 chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835 		JBrowse link
autosomal dominant 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 chrNW_004936525:3,932,118...3,965,651
Ensembl chrNW_004936525:3,931,933...3,964,834 		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 | ClinVar Annotator: match by term: VRCP autosomal dominant OMIM
ClinVar		 PMID:2133066 PMID:9536098 PMID:10737974 PMID:10788642 PMID:10798642 More... NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VITREORETINOCHOROIDOPATHY, AUTOSOMAL DOMINANT, WITH NANOPHTHALMOS | ClinVar Annotator: match by term: VRCP autosomal dominant ClinVar PMID:2133066 PMID:10788642 PMID:10798642 PMID:14615048 PMID:18985398 More... NCBI chrNW_004936581:1,118,905...1,120,592 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 ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY OMIM
ClinVar		 PMID:2392416 PMID:9326942 PMID:10102298 PMID:10102299 PMID:11301032 More... NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072 		JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936588:4,600,344...4,608,793
Ensembl chrNW_004936588:4,600,344...4,608,787 		JBrowse link
G Pnpla6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism OMIM
ClinVar		 PMID:2557489 PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 More... NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		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 OMIM
ClinVar		 PMID:3182623 PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936601:1,343,538...1,393,605
Ensembl chrNW_004936601:1,341,658...1,393,377 		JBrowse link
Cone Rod Dystrophy Amelogenesis Imperfecta 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: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835 		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, 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 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 PMID:2964157 PMID:3002862 PMID:9054934 PMID:9295268 PMID:9466990 More... NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527 		JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 NCBI chrNW_004936484:2,224,308...2,268,302
Ensembl chrNW_004936484:2,225,659...2,271,668 		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 chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy
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 chrNW_004936560:2,881,631...3,057,256
Ensembl chrNW_004936560:2,881,977...3,038,725 		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 chrNW_004936491:17,152,759...17,342,648 JBrowse link
G Arl6 ARF like GTPase 6 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:34828430 NCBI chrNW_004936666:3,077,006...3,102,469
Ensembl chrNW_004936666:3,076,778...3,103,649 		JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:10036316 PMID:14974081 PMID:16435196 PMID:17161971 PMID:17458871 More... NCBI chrNW_004936549:6,654,259...6,827,647
Ensembl chrNW_004936549:6,653,978...6,826,349 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230 		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 chrNW_004936599:2,295,124...2,299,558
Ensembl chrNW_004936599:2,293,000...2,300,322 		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 chrNW_004936721:1,078,570...1,106,153
Ensembl chrNW_004936721:1,078,650...1,106,113 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167 		JBrowse link
G Cdhr1 cadherin related family member 1 ISO 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 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 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23044944 PMID:23233793 More... NCBI chrNW_004936767:805,910...829,838
Ensembl chrNW_004936767:805,558...827,712 		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 chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422 		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 chrNW_004936503:13,524,981...13,537,449 JBrowse link
G Cerkl CERK like autophagy regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 More... NCBI chrNW_004936509:10,294,247...10,404,743
Ensembl chrNW_004936509:10,294,988...10,404,609 		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 chrNW_004936475:10,011,671...10,023,643
Ensembl chrNW_004936475:10,011,616...10,023,756 		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 chrNW_004936500:82,702...90,525
Ensembl chrNW_004936500:82,716...90,523 		JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:25741868 NCBI chrNW_004936544:8,170,841...8,192,896
Ensembl chrNW_004936544:8,170,081...8,192,835 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chrNW_004936501:11,955,334...11,967,338
Ensembl chrNW_004936501:11,955,184...11,967,436 		JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 More... NCBI chrNW_004936482:14,091,343...14,107,793
Ensembl chrNW_004936482:14,091,913...14,107,787 		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:30289319 More... NCBI chrNW_004936744:1,499,431...1,537,784
Ensembl chrNW_004936744:1,514,821...1,540,580 		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 chrNW_004936544:1,166,896...1,305,339
Ensembl chrNW_004936544:1,166,508...1,305,457 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32037395 PMID:32531858 PMID:36909829 NCBI chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766 		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 chrNW_004936704:2,488,370...2,513,042
Ensembl chrNW_004936704:2,490,902...2,505,547 		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 chrNW_004936491:7,202,877...7,221,493
Ensembl chrNW_004936491:7,212,194...7,221,618 		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 chrNW_004936694:2,529,634...2,540,474
Ensembl chrNW_004936694:2,529,640...2,540,328 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 More... NCBI chrNW_004936495:9,970,683...10,565,467
Ensembl chrNW_004936495:9,972,007...10,564,591 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:24352742 PMID:25741868 PMID:28492532 PMID:36909829 NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:24352742 PMID:25741868 NCBI chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal 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 chrNW_004936595:1,235,747...1,250,294
Ensembl chrNW_004936595:1,235,711...1,250,354 		JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936602:908,034...956,634
Ensembl chrNW_004936602:905,486...956,521 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:34906470 NCBI chrNW_004936720:1,041,216...1,168,725
Ensembl chrNW_004936720:1,041,211...1,168,748 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chrNW_004936630:1,982,860...2,069,472
Ensembl chrNW_004936630:1,982,783...2,071,953 		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 chrNW_004936669:1,377,005...1,385,287 JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32531858 NCBI chrNW_004936509:10,215,283...10,293,653
Ensembl chrNW_004936509:10,215,283...10,292,252 		JBrowse link
G Kiaa0586 KIAA0586 ortholog ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chrNW_004936495:2,799,738...2,933,157
Ensembl chrNW_004936495:2,800,384...2,931,856 		JBrowse link
G LOC101960714 cone-rod homeobox protein 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 chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chrNW_004936576:1,491,480...1,498,568
Ensembl chrNW_004936576:1,492,297...1,501,917 		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 chrNW_004936497:4,636,370...4,638,205
Ensembl chrNW_004936497:4,636,758...4,637,759 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:30543658 PMID:36909829 NCBI chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830 		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 chrNW_004936623:3,862,234...3,891,849
Ensembl chrNW_004936623:3,870,031...3,891,849 		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 chrNW_004936471:31,229,322...31,236,093
Ensembl chrNW_004936471:31,229,564...31,235,654 		JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		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 chrNW_004936485:14,785,050...14,804,258
Ensembl chrNW_004936485:14,785,467...14,811,117 		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 chrNW_004936493:3,768,032...3,781,511
Ensembl chrNW_004936493:3,768,688...3,777,634 		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 chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185 		JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:28492532 NCBI chrNW_004936601:1,343,538...1,393,605
Ensembl chrNW_004936601:1,341,658...1,393,377 		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 PMID:25741868 PMID:28492532 NCBI chrNW_004936677:1,451,974...1,528,864
Ensembl chrNW_004936677:1,430,391...1,529,484 		JBrowse link
G Pnpla6 patatin like domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 More... NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chrNW_004936507:6,375,009...6,457,034
Ensembl chrNW_004936507:6,376,350...6,456,932 		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 chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177 		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 chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		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 chrNW_004936477:14,066,063...14,140,310 JBrowse link
G Rax2 retina and anterior neural fold homeobox 2 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:25741868 NCBI chrNW_004936588:2,133,398...2,135,329
Ensembl chrNW_004936588:2,134,211...2,135,358 		JBrowse link
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chrNW_004936554:7,329,155...7,340,434
Ensembl chrNW_004936554:7,329,028...7,338,074 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Cone-rod degeneration
ClinVar Annotator: match by term: Cone-rod dystrophy 		ClinVar PMID:15258582 PMID:16269441 PMID:20006610 PMID:22065924 PMID:23847139 More... NCBI chrNW_004936495:11,111,247...11,121,976
Ensembl chrNW_004936495:11,111,105...11,121,341 		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 chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar PMID:28492532 NCBI chrNW_004936618:3,678,400...4,047,994
Ensembl chrNW_004936618:3,606,524...4,047,711 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30193310 NCBI chrNW_004936507:5,210,561...5,223,320
Ensembl chrNW_004936507:5,210,504...5,223,728 		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 chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:30718709 NCBI chrNW_004936502:5,163,164...5,212,940 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 chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685 		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 chrNW_004936471:35,414,507...35,834,438
Ensembl chrNW_004936471:35,416,571...35,835,048 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185 		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 chrNW_004936592:5,611,775...5,620,846
Ensembl chrNW_004936592:5,614,619...5,619,627 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO MouseDO NCBI chrNW_004936501:12,435,058...12,450,961
Ensembl chrNW_004936501:12,435,051...12,450,675 		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 chrNW_004936503:10,508,989...10,637,424
Ensembl chrNW_004936503:10,508,989...10,616,972 		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 chrNW_004936488:4,723,314...4,983,926
Ensembl chrNW_004936488:4,724,909...4,983,318 		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:11006213 PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936538:4,772,236...4,778,149
Ensembl chrNW_004936538:4,772,283...4,778,137 		JBrowse link
G Ush2a usherin ISO 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 chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		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 NCBI chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185 		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 ClinVar Annotator: match by term: Cone-rod dystrophy 10 | ClinVar Annotator: match by term: SEMA4A-related condition OMIM
ClinVar		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185 		JBrowse link
cone-rod dystrophy 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rax2 retina and anterior neural fold homeobox 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 11 OMIM
ClinVar		 PMID:15028672 PMID:25741868 PMID:25789692 PMID:28492532 PMID:30377383 NCBI chrNW_004936588:2,133,398...2,135,329
Ensembl chrNW_004936588:2,134,211...2,135,358 		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 chrNW_004936767:805,910...829,838
Ensembl chrNW_004936767:805,558...827,712 		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 chrNW_004936596:2,693,881...2,702,443
Ensembl chrNW_004936596:2,693,881...2,702,131 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 12 OMIM
ClinVar		 PMID:3181667 PMID:3442652 PMID:9634506 PMID:10205271 PMID:12657606 More... NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177 		JBrowse link
cone-rod dystrophy 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chrNW_004936880:546,250...608,061
Ensembl chrNW_004936880:546,236...608,080 		JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:28492532 NCBI chrNW_004936880:368,041...425,967 JBrowse link
G Mettl3 methyltransferase 3, N6-adenosine-methyltransferase complex catalytic subunit ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chrNW_004936880:646,835...661,312
Ensembl chrNW_004936880:644,079...661,544 		JBrowse link
G Rab2b RAB2B, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chrNW_004936880:610,903...628,176
Ensembl chrNW_004936880:610,878...628,753 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 OMIM
ClinVar		 PMID:2426569 PMID:3007274 PMID:3442652 PMID:9536098 PMID:11283794 More... NCBI chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685 		JBrowse link
G Sall2 spalt like transcription factor 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chrNW_004936880:670,063...685,532
Ensembl chrNW_004936880:668,789...685,594 		JBrowse link
G Supt16h SPT16 homolog, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chrNW_004936880:511,699...545,364
Ensembl chrNW_004936880:508,244...545,369 		JBrowse link
G Tox4 TOX high mobility group box family member 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chrNW_004936880:628,316...646,006
Ensembl chrNW_004936880:627,576...646,006 		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 chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167 		JBrowse link
G Cimip3 ciliary microtubule inner protein 3 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:25741868
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Cone dystrophy 3 | ClinVar Annotator: match by term: Cone-rod dystrophy 14 | ClinVar Annotator: match by term: GUCA1A-related condition ClinVar
OMIM		 PMID:2552515 PMID:2635877 PMID:9425045 PMID:9425234 PMID:9651312 More... NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:15505030 PMID:24352742 PMID:25741868 PMID:28492532 NCBI chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037 		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 chrNW_004936503:2,320,570...2,332,833
Ensembl chrNW_004936503:2,319,617...2,332,971 		JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chrNW_004936587:2,505,755...2,514,103
Ensembl chrNW_004936587:2,506,585...2,514,157 		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 chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664 		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:9536098 PMID:16199547 PMID:17576681 PMID:20087419 PMID:20805371 More... NCBI chrNW_004936767:805,910...829,838
Ensembl chrNW_004936767:805,558...827,712 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 15 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015 		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 ClinVar Annotator: match by term: C8orf37-related disorder | 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
ClinVar		 PMID:16199547 PMID:22177090 PMID:25515582 PMID:25741868 PMID:25802487 More... NCBI chrNW_004936544:8,170,841...8,192,896
Ensembl chrNW_004936544:8,170,081...8,192,835 		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 ClinVar Annotator: match by term: Cone-rod dystrophy 18 OMIM
ClinVar		 PMID:23746546 PMID:23806086 PMID:24088041 PMID:25356532 PMID:25741868 More... NCBI chrNW_004936477:14,066,063...14,140,310 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 chrNW_004936488:4,723,314...4,983,926
Ensembl chrNW_004936488:4,724,909...4,983,318 		JBrowse link
cone-rod dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 AIP like 1 HSP90 co-chaperone ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chrNW_004936677:1,539,502...1,548,343
Ensembl chrNW_004936677:1,538,874...1,548,010 		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 chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708 		JBrowse link
G LOC101960714 cone-rod homeobox protein ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 OMIM
ClinVar		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234 		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 chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177 		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 chrNW_004936507:6,375,009...6,457,034
Ensembl chrNW_004936507:6,376,350...6,456,932 		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 ClinVar Annotator: match by term: Cone-rod dystrophy 21 OMIM
ClinVar		 PMID:25741868 PMID:25983245 PMID:28492532 PMID:32483926 PMID:35806404 NCBI chrNW_004936704:2,488,370...2,513,042
Ensembl chrNW_004936704:2,490,902...2,505,547 		JBrowse link
cone-rod dystrophy 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH16orf92 chromosome unknown C16orf92 homolog ISO ClinVar Annotator: match by term: Cone-rod dystrophy 22 ClinVar PMID:33077892 NCBI chrNW_004936501:12,450,902...12,452,169
Ensembl chrNW_004936501:12,451,173...12,451,964 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 22 OMIM
ClinVar		 PMID:33077892 NCBI chrNW_004936501:12,435,058...12,450,961
Ensembl chrNW_004936501:12,435,051...12,450,675 		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 ClinVar
OMIM		 PMID:11006213 PMID:25741868 PMID:26992781 PMID:28492532 PMID:35947183 NCBI chrNW_004936538:4,772,236...4,778,149
Ensembl chrNW_004936538:4,772,283...4,778,137 		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 ClinVar Annotator: match by term: Cone-rod dystrophy 3 OMIM
ClinVar		 PMID:248200 PMID:2984763 PMID:3002862 PMID:3196484 PMID:3230744 More... NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO Retinal atrophy - Cone-rod dystrophy 3 OMIA PMID:20691256 PMID:20806078 PMID:22065099 NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695 		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 chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
cone-rod dystrophy 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pimreg PICALM interacting mitotic regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5 ClinVar PMID:25741868 NCBI chrNW_004936677:1,531,220...1,534,208 JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5 | ClinVar Annotator: match by term: PITPNM3-related condition OMIM
ClinVar		 PMID:8586428 PMID:17377520 PMID:20981092 PMID:22405330 PMID:22995991 More... NCBI chrNW_004936677:1,451,974...1,528,864
Ensembl chrNW_004936677:1,430,391...1,529,484 		JBrowse link
cone-rod dystrophy 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chrNW_004936595:1,310,556...1,321,974
Ensembl chrNW_004936595:1,310,534...1,321,985 		JBrowse link
G Alox15b arachidonate 15-lipoxygenase type B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chrNW_004936595:1,279,944...1,288,321
Ensembl chrNW_004936595:1,279,944...1,288,321 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chrNW_004936595:1,329,492...1,350,914
Ensembl chrNW_004936595:1,329,435...1,350,923 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230 		JBrowse link
G Cntrob centrobin, centriole duplication and spindle assembly protein ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chrNW_004936595:1,174,559...1,191,171
Ensembl chrNW_004936595:1,175,562...1,191,222 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO 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
ClinVar		 PMID:3636964 PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 More... NCBI chrNW_004936595:1,235,747...1,250,294
Ensembl chrNW_004936595:1,235,711...1,250,354 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chrNW_004936595:1,352,621...1,355,177
Ensembl chrNW_004936595:1,352,621...1,356,113 		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 chrNW_004936503:2,320,570...2,332,833
Ensembl chrNW_004936503:2,319,617...2,332,971 		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 chrNW_004936618:3,678,400...4,047,994
Ensembl chrNW_004936618:3,606,524...4,047,711 		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 ClinVar Annotator: match by term: ADAM9-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 9 OMIM
ClinVar		 PMID:9536098 PMID:11581183 PMID:17576681 PMID:19409519 PMID:25091951 More... NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695 		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 chrNW_004936503:13,524,981...13,537,449 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 chrNW_004936503:13,524,981...13,537,449 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:9536098 PMID:17576681 PMID:24780881 PMID:25741868 PMID:28005958 More... NCBI chrNW_004936561:5,283,258...5,331,688
Ensembl chrNW_004936561:5,280,959...5,322,038 		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 chrNW_004936470:39,725,092...40,270,268
Ensembl chrNW_004936470:39,723,091...40,270,267 		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 chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		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 chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805 		JBrowse link
fundus albipunctatus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd63 CD63 molecule ISO ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens ClinVar PMID:10369264 PMID:10617778 PMID:11053295 PMID:11053296 PMID:11078852 More... NCBI chrNW_004936646:196,002...199,177
Ensembl chrNW_004936646:191,128...199,777 		JBrowse link
G Mfrp membrane frizzled-related protein ISO OMIM:136880 MouseDO NCBI chrNW_004936542:4,272,250...4,277,231
Ensembl chrNW_004936542:4,272,264...4,277,252 		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 OMIM
ClinVar		 PMID:3441139 PMID:3646071 PMID:8111389 PMID:8485575 PMID:8485576 More... NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Fundus albipunctatus, autosomal recessive | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens OMIM
ClinVar		 PMID:302784 PMID:2336278 PMID:10369264 PMID:10617778 PMID:11053295 More... NCBI chrNW_004936646:191,136...195,279
Ensembl chrNW_004936646:191,128...199,777 		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 OMIM
ClinVar		 PMID:1418997 PMID:1484692 PMID:1833777 PMID:1862076 PMID:1882937 More... NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664 		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 		OMIM
ClinVar		 PMID:2392416 PMID:9326942 PMID:9536098 PMID:10102298 PMID:10102299 More... NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072 		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 | ClinVar Annotator: match by term: Hardikar syndrome OMIM
ClinVar		 PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936762:460,342...483,264
Ensembl chrNW_004936762:460,342...483,195 		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 chrNW_004936471:35,414,507...35,834,438
Ensembl chrNW_004936471:35,416,571...35,835,048 		JBrowse link
isolated microphthalmia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg4 ATP binding cassette subfamily G member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,090,282...4,106,025
Ensembl chrNW_004936542:4,091,283...4,105,370 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,111,055...2,112,626
Ensembl chrNW_004936542:2,111,052...2,112,854 		JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,098,683...2,101,127
Ensembl chrNW_004936542:2,098,683...2,101,127 		JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,106,927...2,108,412
Ensembl chrNW_004936542:2,106,318...2,108,603 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,605,553...3,634,889
Ensembl chrNW_004936542:3,617,051...3,633,132 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:5,197,100...5,335,338
Ensembl chrNW_004936542:5,262,217...5,331,426 		JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,453,287...3,461,125 JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,514,297...2,539,088
Ensembl chrNW_004936542:2,514,300...2,539,135 		JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,873,530...3,902,871
Ensembl chrNW_004936542:3,875,801...3,886,824 		JBrowse link
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen ClinVar PMID:1258954 PMID:3196484 PMID:9536098 PMID:12140190 PMID:15976030 More... NCBI chrNW_004936542:4,269,636...4,271,497
Ensembl chrNW_004936542:4,269,636...4,271,610 		JBrowse link
G C2cd2l C2CD2 like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,058,945...4,068,187 JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,136,389...4,235,746
Ensembl chrNW_004936542:4,136,511...4,228,288 		JBrowse link
G Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,400,129...3,403,628
Ensembl chrNW_004936542:3,399,845...3,403,634 		JBrowse link
G Cd3e CD3e molecule ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,379,361...3,390,677 JBrowse link
G Cd3g CD3g molecule ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,405,084...3,412,104 JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,965,259...3,974,736
Ensembl chrNW_004936542:3,965,256...3,974,739 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,544,677...2,609,753
Ensembl chrNW_004936542:2,544,665...2,609,792 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,860,536...3,872,528
Ensembl chrNW_004936542:3,860,536...3,872,116 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,748,599...3,781,405
Ensembl chrNW_004936542:3,748,575...3,780,692 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,049,107...4,054,100
Ensembl chrNW_004936542:4,048,979...4,054,105 		JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,127,054...4,131,148
Ensembl chrNW_004936542:4,126,890...4,131,179 		JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,619,910...2,939,578
Ensembl chrNW_004936542:2,620,469...2,939,578 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,943,174...3,951,473
Ensembl chrNW_004936542:3,943,174...3,951,473 		JBrowse link
G Fxyd2 FXYD domain containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,956,784...2,961,076
Ensembl chrNW_004936542:2,956,785...2,963,506 		JBrowse link
G Fxyd6 FXYD domain containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,974,968...3,005,778
Ensembl chrNW_004936542:2,974,971...3,006,011 		JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:5,600,517...5,764,042
Ensembl chrNW_004936542:5,599,785...5,763,616 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,072,771...4,083,973
Ensembl chrNW_004936542:4,072,624...4,084,064 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,037,888...4,046,089
Ensembl chrNW_004936542:4,037,201...4,050,810 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,005,616...4,018,135
Ensembl chrNW_004936542:4,005,610...4,018,135 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,577,387...3,597,954
Ensembl chrNW_004936542:3,577,580...3,597,859 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,099,484...3,113,159
Ensembl chrNW_004936542:3,099,430...3,113,210 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,284,445...3,312,190 JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,480,071...3,566,823
Ensembl chrNW_004936542:3,391,774...3,562,147 		JBrowse link
G LOC101966907 histone H2AX ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,046,930...4,049,017
Ensembl chrNW_004936542:4,047,915...4,048,346 		JBrowse link
G LOC101975324 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,235,914...4,244,981
Ensembl chrNW_004936542:4,237,010...4,244,462 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 | ClinVar Annotator: match by term: Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen OMIM
ClinVar		 PMID:1258954 PMID:3196484 PMID:9536098 PMID:12140190 PMID:15976030 More... NCBI chrNW_004936542:4,272,250...4,277,231
Ensembl chrNW_004936542:4,272,264...4,277,252 		JBrowse link
G Mpzl2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,332,822...3,344,663
Ensembl chrNW_004936542:3,333,830...3,343,852 		JBrowse link
G Mpzl3 myelin protein zero like 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,314,921...3,332,785
Ensembl chrNW_004936542:3,313,417...3,331,792 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,501,081...4,602,338
Ensembl chrNW_004936542:4,539,931...4,602,344 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,121,275...4,126,611 JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,105,980...4,121,176
Ensembl chrNW_004936542:4,109,136...4,122,978 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:5,070,995...5,087,676
Ensembl chrNW_004936542:5,070,468...5,091,298 		JBrowse link
G Pafah1b2 platelet activating factor acetylhydrolase 1b catalytic subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,390,904...2,417,596
Ensembl chrNW_004936542:2,390,513...2,414,882 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,450,830...2,478,740
Ensembl chrNW_004936542:2,452,359...2,476,126 		JBrowse link
G Phldb1 pleckstrin homology like domain family B member 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,639,992...3,688,000
Ensembl chrNW_004936542:3,639,982...3,688,450 		JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:5,097,837...5,177,968
Ensembl chrNW_004936542:5,104,169...5,177,839 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,479,109...2,512,964
Ensembl chrNW_004936542:2,480,127...2,512,161 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,265,226...4,268,037 JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,974,796...3,977,155
Ensembl chrNW_004936542:3,974,804...3,976,816 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:6,046,425...6,062,825
Ensembl chrNW_004936542:6,046,390...6,059,074 		JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,262,161...3,274,545
Ensembl chrNW_004936542:3,261,533...3,274,623 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,236,238...3,252,550
Ensembl chrNW_004936542:3,236,231...3,252,692 		JBrowse link
G Sidt2 SID1 transmembrane family member 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,426,937...2,443,721
Ensembl chrNW_004936542:2,426,937...2,443,721 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,119,423...2,357,533
Ensembl chrNW_004936542:2,117,349...2,357,539 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,980,538...3,987,039
Ensembl chrNW_004936542:3,980,236...3,987,066 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:6,192,407...6,352,835
Ensembl chrNW_004936542:6,192,407...6,352,424 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:2,445,825...2,451,216
Ensembl chrNW_004936542:2,445,659...2,451,216 		JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,323,905...4,329,940
Ensembl chrNW_004936542:4,323,408...4,330,077 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:5,186,445...5,192,015
Ensembl chrNW_004936542:5,186,226...5,194,119 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,569,735...3,575,987
Ensembl chrNW_004936542:3,571,460...3,579,462 		JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,029,758...3,047,699
Ensembl chrNW_004936542:3,029,758...3,052,345 		JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,180,260...3,216,208
Ensembl chrNW_004936542:3,204,303...3,215,167 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,977,223...3,980,168
Ensembl chrNW_004936542:3,977,358...3,979,906 		JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,688,086...3,702,067
Ensembl chrNW_004936542:3,688,247...3,702,033 		JBrowse link
G Trim29 tripartite motif containing 29 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,967,831...4,999,644
Ensembl chrNW_004936542:4,967,784...4,994,369 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,567,469...3,571,393
Ensembl chrNW_004936542:3,566,876...3,571,504 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:3,929,555...3,931,754
Ensembl chrNW_004936542:3,929,535...3,931,769 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,284,243...4,310,545
Ensembl chrNW_004936542:4,285,819...4,307,925 		JBrowse link
G Vps11 VPS11 core subunit of CORVET and HOPS complexes ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chrNW_004936542:4,022,928...4,035,577
Ensembl chrNW_004936542:4,023,134...4,035,260 		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 chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835 		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 chrNW_004936783:1,210,715...1,218,315
Ensembl chrNW_004936783:1,210,809...1,218,315 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chrNW_004936477:4,881,230...5,488,208
Ensembl chrNW_004936477:5,199,881...5,488,226 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO OMIM:530000 MouseDO NCBI chrNW_004936614:4,595,973...4,605,040
Ensembl chrNW_004936614:4,596,617...4,605,104 		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 chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO 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
ClinVar		 PMID:11381255 PMID:17011878 PMID:18055821 PMID:22025579 PMID:22559933 More... NCBI chrNW_004936576:1,491,480...1,498,568
Ensembl chrNW_004936576:1,492,297...1,501,917 		JBrowse link
Leber congenital amaurosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eml5 EMAP like 5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chrNW_004936488:16,061,132...16,240,182
Ensembl chrNW_004936488:16,062,766...16,240,188 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chrNW_004936488:15,444,184...15,519,395
Ensembl chrNW_004936488:15,444,801...15,518,856 		JBrowse link
G Gpr65 G protein-coupled receptor 65 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chrNW_004936488:15,544,075...15,545,344
Ensembl chrNW_004936488:15,544,149...15,545,156 		JBrowse link
G Kcnk10 potassium two pore domain channel subfamily K member 10 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chrNW_004936488:15,698,137...15,773,582
Ensembl chrNW_004936488:15,698,143...15,827,661 		JBrowse link
G Ptpn21 protein tyrosine phosphatase non-receptor type 21 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chrNW_004936488:15,922,624...15,996,997
Ensembl chrNW_004936488:15,923,833...15,995,142 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO 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
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 More... NCBI chrNW_004936488:15,878,167...15,911,301
Ensembl chrNW_004936488:15,878,158...15,911,415 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chrNW_004936488:16,258,247...16,306,077
Ensembl chrNW_004936488:16,258,058...16,306,589 		JBrowse link
G Zc3h14 zinc finger CCCH-type containing 14 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chrNW_004936488:16,009,081...16,058,642
Ensembl chrNW_004936488:16,009,123...16,059,997 		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 chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830 		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 OMIM
ClinVar		 PMID:9536098 PMID:10420199 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chrNW_004936480:4,090,005...4,305,770
Ensembl chrNW_004936480:4,090,005...4,305,632 		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 ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 OMIM
ClinVar		 PMID:30945270 NCBI chrNW_004936599:4,336,190...4,343,007
Ensembl chrNW_004936599:4,336,079...4,343,061 		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 chrNW_004936514:7,471,134...7,481,183
Ensembl chrNW_004936514:7,470,922...7,481,199 		JBrowse link
Myoectodermal Gonadal Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: 46,XY agonadism with mental retardation, short stature, retarded bone age, and multiple extragenital malformations ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004936741:1,669,680...1,724,929
Ensembl chrNW_004936741:1,669,680...1,723,891 		JBrowse link
G Ppp2r3c protein phosphatase 2 regulatory subunit B''gamma ISO ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME | ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy OMIM
ClinVar		 PMID:8849014 PMID:25741868 PMID:30893644 PMID:34714774 PMID:34750818 More... NCBI chrNW_004936494:9,247,600...9,283,019
Ensembl chrNW_004936494:9,244,588...9,283,019 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: BROSNAN-KENNERKNECHT-GURAN-KOC SYNDROME ClinVar PMID:25741868 NCBI chrNW_004936494:9,282,894...9,414,350 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 chrNW_004936721:830,067...838,783
Ensembl chrNW_004936721:830,042...838,866 		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 OMIM
ClinVar		 PMID:2392416 PMID:9536098 PMID:10102298 PMID:10102299 PMID:11301032 More... NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072 		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 domain 6, lysophospholipase ISO ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome OMIM
ClinVar		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chrNW_004936588:4,608,856...4,632,198
Ensembl chrNW_004936588:4,608,963...4,632,183 		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 chrNW_004936531:7,865,907...8,036,020
Ensembl chrNW_004936531:7,865,820...8,037,935 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chrNW_004936486:11,271,130...11,317,271
Ensembl chrNW_004936486:11,271,130...11,316,739 		JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936529:2,130,421...2,159,859
Ensembl chrNW_004936529:2,130,252...2,160,313 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea ClinVar PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7825692 More... NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		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 ClinVar Annotator: match by term: Patterned macular dystrophy 1 OMIM
ClinVar		 PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7710395 More... NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		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 ClinVar Annotator: match by term: CTNNA1-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 2 OMIM
ClinVar		 PMID:5442145 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26691986 More... NCBI chrNW_004936531:7,865,907...8,036,020
Ensembl chrNW_004936531:7,865,820...8,037,935 		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 chrNW_004936529:2,130,421...2,159,859
Ensembl chrNW_004936529:2,130,252...2,160,313 		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 ClinVar Annotator: match by term: ABHD12-related condition | ClinVar Annotator: match by term: PHARC syndrome OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20797687 PMID:23806086 PMID:24088041 More... NCBI chrNW_004936620:451,216...531,353
Ensembl chrNW_004936620:451,174...531,454 		JBrowse link
Pseudoinflammatory Fundus Dystrophy, Finnish Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936492:6,836,441...7,253,867
Ensembl chrNW_004936492:6,876,684...7,253,375 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936492:6,996,627...7,046,137
Ensembl chrNW_004936492:6,996,613...7,046,190 		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 ISO mRNA:increased expression:retinal pigmented epithelium (rat) RGD PMID:21266465 RGD:126925759 NCBI chrNW_004936538:5,392,159...5,400,583
Ensembl chrNW_004936538:5,392,105...5,400,070 		JBrowse link
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 OMIM
ClinVar		 PMID:15629837 PMID:22901948 PMID:25741868 PMID:27472364 PMID:27479814 More... NCBI chrNW_004936587:2,505,755...2,514,103
Ensembl chrNW_004936587:2,506,585...2,514,157 		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: Cone dystrophy with night blindness and supernormal rod responses KCNV2 related | ClinVar Annotator: match by term: KCNV2-related condition | ClinVar Annotator: match by term: Retinal cone dystrophy 3B | ClinVar Annotator: match by term: cone dystrophy with supernormal rod electroretinogram OMIM
ClinVar		 PMID:8333273 PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 More... NCBI chrNW_004936503:2,320,570...2,332,833
Ensembl chrNW_004936503:2,319,617...2,332,971 		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 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17033974 PMID:17576681 PMID:24033266 More... NCBI chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167 		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 Trpm3 transient receptor potential cation channel subfamily M member 3 ISO ClinVar Annotator: match by term: MIR204-related condition | ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract ClinVar PMID:25741868 PMID:26056285 PMID:28492532 PMID:37321975 NCBI chrNW_004936503:6,688,476...7,188,417
Ensembl chrNW_004936503:6,690,043...7,497,963 		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 chrNW_004936581:2,944,230...2,976,957
Ensembl chrNW_004936581:2,941,953...2,971,405 		JBrowse link
Retinal Dystrophy and Obesity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ric3 RIC3 acetylcholine receptor chaperone ISO ClinVar Annotator: match by term: Retinal dystrophy and obesity | ClinVar Annotator: match by term: TUB-related condition ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24375934 PMID:25741868 More... NCBI chrNW_004936528:9,790,594...9,829,120
Ensembl chrNW_004936528:9,790,463...9,825,777 		JBrowse link
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:9536098 PMID:16199547 PMID:17576681 PMID:24375934 PMID:25741868 More... NCBI chrNW_004936528:9,829,889...9,912,645
Ensembl chrNW_004936528:9,834,954...9,855,080 		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 ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936469:20,892,715...20,964,674
Ensembl chrNW_004936469:20,892,466...20,960,098 		JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936585:2,834,202...2,854,740
Ensembl chrNW_004936585:2,834,008...2,855,387 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936586:2,200,211...2,272,781
Ensembl chrNW_004936586:2,200,205...2,273,307 		JBrowse link
G Card9 caspase recruitment domain family member 9 ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936669:1,428,208...1,438,012
Ensembl chrNW_004936669:1,429,594...1,438,005 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182 		JBrowse link
G Crh corticotropin releasing hormone ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936496:7,759,656...7,761,555
Ensembl chrNW_004936496:7,760,532...7,761,122 		JBrowse link
G Fcgr1a Fc fragment of IgG receptor Ia ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936580:115,552...144,970
Ensembl chrNW_004936580:115,450...145,785 		JBrowse link
G Inhba inhibin subunit beta A ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936478:16,878,725...16,884,065 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 chrNW_004936565:1,535,570...1,557,667
Ensembl chrNW_004936565:1,535,779...1,557,013 		JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936473:11,615,877...11,954,377
Ensembl chrNW_004936473:11,616,090...11,953,811 		JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936474:15,293,115...15,314,072
Ensembl chrNW_004936474:15,305,050...15,313,668 		JBrowse link
G Phlda1 pleckstrin homology like domain family A member 1 ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936568:4,400,094...4,407,900
Ensembl chrNW_004936568:4,404,818...4,406,006 		JBrowse link
G Ptprc protein tyrosine phosphatase receptor type C ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936567:5,266,653...5,378,464
Ensembl chrNW_004936567:5,267,615...5,378,258 		JBrowse link
G Sh3rf1 SH3 domain containing ring finger 1 ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936516:1,267,128...1,429,040
Ensembl chrNW_004936516:1,267,029...1,428,841 		JBrowse link
G Tbx5 T-box transcription factor 5 ISO associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936558:7,408,229...7,454,897
Ensembl chrNW_004936558:7,408,222...7,454,901 		JBrowse link
G Vdr vitamin D receptor ISO associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		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 chrNW_004936565:2,608,788...2,649,992
Ensembl chrNW_004936565:2,608,792...2,650,604 		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 chrNW_004936500:82,702...90,525
Ensembl chrNW_004936500:82,716...90,523 		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 chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527 		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 chrNW_004936491:17,152,759...17,342,648 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 Ffar4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome ClinVar PMID:9888420 PMID:10232633 PMID:16157297 PMID:25741868 PMID:25910211 More... NCBI chrNW_004936601:1,413,236...1,434,036
Ensembl chrNW_004936601:1,413,208...1,433,455 		JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome OMIM
ClinVar		 PMID:9888420 PMID:10232633 PMID:16157297 PMID:23189188 PMID:25741868 More... NCBI chrNW_004936601:1,401,215...1,410,195
Ensembl chrNW_004936601:1,402,691...1,410,208 		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 Gphn gephyrin ISO ClinVar Annotator: match by term: RDH11-related condition | ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome ClinVar PMID:24916380 PMID:25741868 PMID:28492532 NCBI chrNW_004936495:9,970,683...10,565,467
Ensembl chrNW_004936495:9,972,007...10,564,591 		JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: RDH11-related condition | ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome OMIM
ClinVar		 PMID:24916380 PMID:25741868 PMID:28492532 NCBI chrNW_004936495:11,065,946...11,082,104
Ensembl chrNW_004936495:11,066,660...11,082,044 		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 chrNW_004936563:3,233,913...3,296,671
Ensembl chrNW_004936563:3,235,181...3,296,257 		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: 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: 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, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar
RGD		 PMID:248200 PMID:2964157 PMID:3002862 PMID:3105428 PMID:8533764 More... RGD:1598552 NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527 		JBrowse link
G Acan aggrecan treatment ISO RGD PMID:25646031 RGD:11570529 NCBI chrNW_004936483:14,811,152...14,846,305
Ensembl chrNW_004936483:14,811,152...14,846,305 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:26261414 PMID:28492532 PMID:31456290 NCBI chrNW_004936710:2,301,470...2,388,533
Ensembl chrNW_004936710:2,301,730...2,387,695 		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 chrNW_004936475:25,698,117...25,831,291
Ensembl chrNW_004936475:25,699,840...25,831,284 		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 chrNW_004936477:6,531,506...6,637,628
Ensembl chrNW_004936477:6,531,501...6,638,135 		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 chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:26662040 PMID:27655171 NCBI chrNW_004936567:1,658,405...1,674,794
Ensembl chrNW_004936567:1,658,383...1,676,199 		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 chrNW_004936493:5,470,623...5,488,542
Ensembl chrNW_004936493:5,469,449...5,488,549 		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 chrNW_004936560:2,881,631...3,057,256
Ensembl chrNW_004936560:2,881,977...3,038,725 		JBrowse link
G Aifm1 apoptosis inducing factor mitochondria associated 1 treatment ISO protein:increased expression:nucleus: RGD PMID:23951212 RGD:10053563 NCBI chrNW_004936479:1,441,508...1,477,133
Ensembl chrNW_004936479:1,441,437...1,478,107 		JBrowse link
G Aipl1 AIP like 1 HSP90 co-chaperone treatment ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration RGD
ClinVar		 PMID:3257969 PMID:3442652 PMID:10615133 PMID:10873396 PMID:11139241 More... RGD:8696011 NCBI chrNW_004936677:1,539,502...1,548,343
Ensembl chrNW_004936677:1,538,874...1,548,010 		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 chrNW_004936491:17,152,759...17,342,648 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 chrNW_004936588:4,522,517...4,572,551
Ensembl chrNW_004936588:4,514,691...4,572,518 		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 chrNW_004936475:9,343,333...9,352,089
Ensembl chrNW_004936475:9,343,336...9,352,065 		JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:33748123 NCBI chrNW_004936600:3,190,212...3,229,831
Ensembl chrNW_004936600:3,190,208...3,232,755 		JBrowse link
G Arl6 ARF like GTPase 6 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:15314642 PMID:17160889 PMID:19236846 PMID:19956407 PMID:20177705 More... NCBI chrNW_004936666:3,077,006...3,102,469
Ensembl chrNW_004936666:3,076,778...3,103,649 		JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chrNW_004937131:170,649...183,942 JBrowse link
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:8394174 PMID:8595886 PMID:22334370 PMID:25741868 PMID:27588261 More... NCBI chrNW_004936477:22,416,505...22,417,543
Ensembl chrNW_004936477:22,416,539...22,417,543 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO 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 chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299 		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 chrNW_004936568:4,640,611...4,644,627
Ensembl chrNW_004936568:4,638,637...4,644,502 		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 chrNW_004936662:1,822,727...1,832,403
Ensembl chrNW_004936662:1,830,137...1,832,263 		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 chrNW_004936475:8,785,914...8,810,490
Ensembl chrNW_004936475:8,785,154...8,810,541 		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 chrNW_004936471:31,962,500...32,019,516
Ensembl chrNW_004936471:31,962,336...32,020,712 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chrNW_004936662:1,081,237...1,116,719
Ensembl chrNW_004936662:1,080,295...1,116,636 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chrNW_004936478:8,959,198...9,408,683
Ensembl chrNW_004936478:8,959,121...9,408,714 		JBrowse link
G Bcan brevican severity ISO RGD PMID:29150673 RGD:14392802 NCBI chrNW_004936580:5,816,196...5,828,531
Ensembl chrNW_004936580:5,816,359...5,828,126 		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, 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, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:9536098 PMID:10453731 PMID:10798642 PMID:10854112 PMID:11713080 More... NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230 		JBrowse link
G Ca4 carbonic anhydrase 4 susceptibility ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa RGD
ClinVar		 PMID:7581389 PMID:9385361 PMID:9536098 PMID:15090652 PMID:15295099 More... RGD:1600730 NCBI chrNW_004936490:1,764,845...1,773,752
Ensembl chrNW_004936490:1,764,795...1,774,645 		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 chrNW_004936721:1,078,570...1,106,153
Ensembl chrNW_004936721:1,078,650...1,106,113 		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 chrNW_004936606:2,011,454...2,118,255
Ensembl chrNW_004936606:2,012,156...2,118,167 		JBrowse link
G Casp7 caspase 7 ISO RGD PMID:23470535 RGD:8548491 NCBI chrNW_004936486:4,082,664...4,114,942
Ensembl chrNW_004936486:4,088,372...4,114,955 		JBrowse link
G Cat catalase ISO RGD PMID:19293779 RGD:8158049 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Ccdc66 coiled-coil domain containing 66 ISO OMIM:268000 MouseDO NCBI chrNW_004936473:7,027,543...7,054,079
Ensembl chrNW_004936473:7,027,495...7,055,028 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:26306921 PMID:28492532 PMID:30718709 NCBI chrNW_004936475:18,908,031...18,954,402
Ensembl chrNW_004936475:18,906,493...18,955,072 		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 chrNW_004936767:805,910...829,838
Ensembl chrNW_004936767:805,558...827,712 		JBrowse link
G Cep250 centrosomal protein 250 ISO MouseDO NCBI chrNW_004936561:5,283,258...5,331,688
Ensembl chrNW_004936561:5,280,959...5,322,038 		JBrowse link
G Cep290 centrosomal protein 290 ISO 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
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 More... NCBI chrNW_004936507:5,223,756...5,305,392
Ensembl chrNW_004936507:5,221,910...5,305,422 		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 		RGD
ClinVar		 PMID:9536098 PMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 More... RGD:1600829 NCBI chrNW_004936509:10,294,247...10,404,743
Ensembl chrNW_004936509:10,294,988...10,404,609 		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 chrNW_004936500:82,702...90,525
Ensembl chrNW_004936500:82,716...90,523 		JBrowse link
G Cfap418 cilia and flagella associated protein 418 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:22177090 PMID:25515582 PMID:25741868 PMID:25802487 PMID:26355662 More... NCBI chrNW_004936544:8,170,841...8,192,896
Ensembl chrNW_004936544:8,170,081...8,192,835 		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 chrNW_004936547:6,368,941...6,533,199
Ensembl chrNW_004936547:6,368,918...6,533,237 		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 chrNW_004936501:11,955,334...11,967,338
Ensembl chrNW_004936501:11,955,184...11,967,436 		JBrowse link
G Clrn1 clarin 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:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 More... NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376 		JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 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 PMID:7479749 PMID:12362048 PMID:16199547 PMID:18310263 PMID:23462753 More... NCBI chrNW_004936482:14,091,343...14,107,793
Ensembl chrNW_004936482:14,091,913...14,107,787 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 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, 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 		ClinVar PMID:3384701 PMID:3442652 PMID:9536098 PMID:11379879 PMID:15557452 More... NCBI chrNW_004936475:9,844,438...9,908,009 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 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 Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 More... NCBI chrNW_004936544:1,166,896...1,305,339
Ensembl chrNW_004936544:1,166,508...1,305,457 		JBrowse link
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 More... NCBI chrNW_004936744:715,523...754,148
Ensembl chrNW_004936744:714,721...771,835 		JBrowse link
G Cntf ciliary neurotrophic factor disease_progression ISO associated with lens injury RGD PMID:24558606 RGD:40818112 NCBI chrNW_004936581:3,710,171...3,715,753
Ensembl chrNW_004936581:3,710,160...3,715,638 		JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chrNW_004936778:847,473...943,038 JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:33084234 NCBI chrNW_004936661:2,989,164...3,008,955
Ensembl chrNW_004936661:2,989,162...3,006,289 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 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: 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, 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 | ClinVar Annotator: match by term: Tapetoretinal degeneration
DNA:missense mutations 		ClinVar
RGD		 PMID:3105428 PMID:9536098 PMID:10508521 PMID:11231775 PMID:11389483 More... RGD:1600966 NCBI chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766 		JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO OMIM:268000 RGD
MouseDO		 PMID:24493795 RGD:8552786 NCBI chrNW_004936487:11,793,078...11,813,803
Ensembl chrNW_004936487:11,793,005...11,812,934 		JBrowse link
G Crygs crystallin gamma S ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16141006 PMID:25741868 NCBI chrNW_004936578:3,404,552...3,410,604
Ensembl chrNW_004936578:3,404,673...3,410,760 		JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISO MouseDO NCBI chrNW_004936480:4,090,005...4,305,770
Ensembl chrNW_004936480:4,090,005...4,305,632 		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 chrNW_004936594:1,602,436...1,613,783
Ensembl chrNW_004936594:1,604,710...1,613,783 		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 chrNW_004936474:10,914,018...10,949,138
Ensembl chrNW_004936474:10,913,903...10,950,095 		JBrowse link
G Dhx38 DEAH-box helicase 38 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:30208423 NCBI chrNW_004936475:21,811,693...21,830,560
Ensembl chrNW_004936475:21,811,463...21,830,577 		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 chrNW_004936551:4,584,438...4,913,829
Ensembl chrNW_004936551:4,584,438...4,913,825 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:20005906 RGD:8661800 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive 		ClinVar PMID:23105016 PMID:25741868 PMID:28492532 NCBI chrNW_004936474:5,512,100...5,539,198
Ensembl chrNW_004936474:5,511,661...5,539,237 		JBrowse link
G Eml3 EMAP like 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chrNW_004936581:644,841...654,539
Ensembl chrNW_004936581:644,841...654,538 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISO ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar NCBI chrNW_004936517:841,402...941,054
Ensembl chrNW_004936517:841,411...939,581 		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 chrNW_004936491:7,202,877...7,221,493
Ensembl chrNW_004936491:7,212,194...7,221,618 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 treatment ISO RGD PMID:11319911 RGD:12801430 NCBI chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		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 chrNW_004936557:693,445...727,166
Ensembl chrNW_004936557:692,489...726,965 		JBrowse link
G Fscn2 fascin actin-bundling protein 2, retinal ISO RGD PMID:11527955 RGD:1598962 NCBI chrNW_004936594:5,184,133...5,195,340
Ensembl chrNW_004936594:5,184,628...5,191,985 		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 chrNW_004936581:1,118,905...1,120,592 JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chrNW_004936525:4,301,003...4,432,125
Ensembl chrNW_004936525:4,304,629...4,403,089 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:26179960 PMID:27362913 PMID:28492532 NCBI chrNW_004936539:1,008,340...1,095,044
Ensembl chrNW_004936539:1,007,820...1,095,054 		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 chrNW_004936529:1,735,258...1,740,297
Ensembl chrNW_004936529:1,735,440...1,742,567 		JBrowse link
G Gphn gephyrin 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 		ClinVar PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 More... NCBI chrNW_004936495:9,970,683...10,565,467
Ensembl chrNW_004936495:9,972,007...10,564,591 		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 chrNW_004936490:13,801,514...13,818,666
Ensembl chrNW_004936490:13,803,303...13,818,533 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B ISO protein:decreased expression:outer plexiform layer of retina (rat) RGD PMID:11925013 RGD:13432034 NCBI chrNW_004936587:3,406,055...3,806,956
Ensembl chrNW_004936587:3,405,698...3,804,664 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9425234 PMID:9651312 PMID:9702199 PMID:15505030 PMID:15953638 More... NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:15452722 PMID:15505030 PMID:22025579 PMID:25741868 PMID:26161267 More... NCBI chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037 		JBrowse link
G Gucy2d guanylate cyclase 2D, retinal susceptibility ISO DNA:mutation:exon
ClinVar Annotator: match by term: Retinitis pigmentosa 		RGD
ClinVar		 PMID:10676808 PMID:10951519 PMID:11115851 PMID:11328726 PMID:11565546 More... RGD:1599624 NCBI chrNW_004936595:1,235,747...1,250,294
Ensembl chrNW_004936595:1,235,711...1,250,354 		JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:vitreous humor: RGD PMID:20053975 RGD:8548602 NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779 		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 chrNW_004936570:257,636...297,797
Ensembl chrNW_004936570:258,820...297,762 		JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30778173 PMID:31785789 PMID:34448047 NCBI chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793 		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 chrNW_004936471:36,823,003...36,842,576
Ensembl chrNW_004936471:36,822,971...36,842,610 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO 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:18806796 PMID:25741868 PMID:28492532 NCBI chrNW_004936485:16,033,287...16,038,097
Ensembl chrNW_004936485:16,033,128...16,042,821 		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 chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:11030072 PMID:24140113 PMID:25664603 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chrNW_004936720:1,041,216...1,168,725
Ensembl chrNW_004936720:1,041,211...1,168,748 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 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 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:14981049 PMID:16199547 PMID:20045992 PMID:20718729 PMID:24244438 More... NCBI chrNW_004936479:15,523,342...15,540,229
Ensembl chrNW_004936479:15,523,037...15,540,173 		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 chrNW_004936788:1,258,547...1,401,910
Ensembl chrNW_004936788:1,268,614...1,401,998 		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, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:3253185 PMID:9536098 PMID:17576681 PMID:20673862 PMID:22277662 More... NCBI chrNW_004936630:1,982,860...2,069,472
Ensembl chrNW_004936630:1,982,783...2,071,953 		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 chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708 		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 chrNW_004936509:10,215,283...10,293,653
Ensembl chrNW_004936509:10,215,283...10,292,252 		JBrowse link
G Itprid2 ITPR interacting domain containing 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28041643 NCBI chrNW_004936509:10,606,449...10,645,231
Ensembl chrNW_004936509:10,606,443...10,645,230 		JBrowse link
G Kcnj13 potassium inwardly rectifying channel subfamily J member 13 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chrNW_004936525:4,361,755...4,374,130
Ensembl chrNW_004936525:4,362,376...4,374,414 		JBrowse link
G Kiaa1549 KIAA1549 ortholog ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chrNW_004936592:3,132,166...3,215,835
Ensembl chrNW_004936592:3,132,703...3,275,199 		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 chrNW_004936601:2,163,316...2,213,674
Ensembl chrNW_004936601:2,163,795...2,213,588 		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 chrNW_004936620:4,188,350...4,310,708
Ensembl chrNW_004936620:4,185,898...4,310,738 		JBrowse link
G Kl klotho ISO protein:increased expression:retina,photoreceptor,nucleus: RGD PMID:23796581 RGD:10403060 NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086 		JBrowse link
G Klb klotho beta ISO protein:increased expression:outer nuclear layer: RGD PMID:23796581 RGD:10403060 NCBI chrNW_004936482:7,026,871...7,060,495
Ensembl chrNW_004936482:7,026,871...7,059,848 		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 Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:19520207 PMID:20547956 PMID:21828050 PMID:25741868 PMID:27160483 More... NCBI chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:11030072 PMID:24140113 PMID:25664603 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936493:5,145,237...5,146,904
Ensembl chrNW_004936493:5,142,970...5,146,778 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chrNW_004936492:6,160,979...6,657,491
Ensembl chrNW_004936492:6,289,517...6,659,465 		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 chrNW_004936510:10,652,378...10,702,761
Ensembl chrNW_004936510:10,671,297...10,703,618 		JBrowse link
G LOC101960714 cone-rod homeobox protein ISO 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: 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: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:2098109 PMID:9427255 PMID:9792858 PMID:10766140 PMID:10916183 More... NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234 		JBrowse link
G LOC101963575 eyes shut homolog 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, 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 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 | 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, Dominant/Recessive | 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: Syndromic retinitis pigmentosa 		ClinVar PMID:287049 PMID:2033377 PMID:3196484 PMID:3248392 PMID:3253185 More... NCBI chrNW_004936476:158,391...1,289,639 JBrowse link
G LOC101967774 cytochrome P450 4V2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24480711 PMID:25741868 PMID:28041643 PMID:28051075 PMID:28492532 More... NCBI chrNW_004936554:3,272,139...3,293,288
Ensembl chrNW_004936554:3,272,073...3,293,564 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Lrat lecithin retinol acyltransferase 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:22025579 PMID:25324289 PMID:25741868 PMID:26355662 PMID:28492532 More... NCBI chrNW_004936576:1,491,480...1,498,568
Ensembl chrNW_004936576:1,492,297...1,501,917 		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 Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:16199547 PMID:21148103 PMID:21825139 PMID:21835304 PMID:24938718 More... NCBI chrNW_004936534:2,170,853...2,239,647
Ensembl chrNW_004936534:2,170,794...2,224,065 		JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase 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:9536098 PMID:11062461 PMID:11592982 PMID:15111602 PMID:16199547 More... NCBI chrNW_004936783:607,425...704,879
Ensembl chrNW_004936783:607,382...704,889 		JBrowse link
G Mfrp membrane frizzled-related protein ISO DNA:deletio:exon:c.498delC(P.166PfsX26)(human) RGD PMID:22605927 RGD:11553921 NCBI chrNW_004936542:4,272,250...4,277,231
Ensembl chrNW_004936542:4,272,264...4,277,252 		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 chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chrNW_004936490:4,865,243...4,876,601
Ensembl chrNW_004936490:4,865,243...4,878,912 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:8900236 PMID:10094549 PMID:19074810 PMID:24033266 PMID:25404053 More... NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28041643 NCBI chrNW_004936509:10,421,821...10,425,927
Ensembl chrNW_004936509:10,423,126...10,424,196 		JBrowse link
G Ngf nerve growth factor ISO protein:decreased expression:lacrimal gland RGD PMID:20595895 RGD:4891133 NCBI chrNW_004936627:635,784...641,290
Ensembl chrNW_004936627:635,788...645,364 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:34906470 NCBI chrNW_004936623:802,152...904,198 JBrowse link
G Nr2e3 nuclear receptor subfamily 2 group E member 3 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, 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 chrNW_004936471:31,229,322...31,236,093
Ensembl chrNW_004936471:31,229,564...31,235,654 		JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:15591106 PMID:17335001 PMID:23534816 PMID:25741868 PMID:27081294 More... NCBI chrNW_004936722:448,006...454,064
Ensembl chrNW_004936722:447,967...454,553 		JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chrNW_004936502:7,890,582...7,909,157
Ensembl chrNW_004936502:7,890,535...7,910,986 		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 chrNW_004936470:3,292,961...3,331,915
Ensembl chrNW_004936470:3,292,249...3,331,800 		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 chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		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 chrNW_004936578:268,815...431,123
Ensembl chrNW_004936578:268,856...431,137 		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 chrNW_004936485:14,785,050...14,804,258
Ensembl chrNW_004936485:14,785,467...14,811,117 		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: Tapetoretinal degeneration 		ClinVar PMID:3196484 PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 More... NCBI chrNW_004936493:3,768,032...3,781,511
Ensembl chrNW_004936493:3,768,688...3,777,634 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Pde6a phosphodiesterase 6A 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:3196484 PMID:7493036 PMID:10393062 PMID:16199547 PMID:17110911 More... NCBI chrNW_004936504:5,018,171...5,088,333
Ensembl chrNW_004936504:5,018,064...5,092,024 		JBrowse link
G Pde6b phosphodiesterase 6B 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 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 		ClinVar PMID:3145629 PMID:3203739 PMID:3253185 PMID:7724547 PMID:8394174 More... NCBI chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185 		JBrowse link
G Pde6g phosphodiesterase 6G ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:20655036 PMID:25741868 PMID:28492532 NCBI chrNW_004936594:5,263,345...5,267,240
Ensembl chrNW_004936594:5,263,333...5,267,476 		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 PMID:3442652 PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 More... NCBI chrNW_004936476:1,295,697...1,380,608
Ensembl chrNW_004936476:1,296,423...1,368,411 		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 chrNW_004936677:1,451,974...1,528,864
Ensembl chrNW_004936677:1,430,391...1,529,484 		JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar PMID:29272404 NCBI chrNW_004936549:1,065,495...1,111,642
Ensembl chrNW_004936549:1,065,475...1,114,496 		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 chrNW_004936474:21,881,692...21,906,564
Ensembl chrNW_004936474:21,881,712...21,906,569 		JBrowse link
G Prcd photoreceptor disc component ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:16199547 PMID:16938425 PMID:17576681 PMID:20507925 More... NCBI chrNW_004936594:1,615,165...1,628,455
Ensembl chrNW_004936594:1,616,794...1,619,049 		JBrowse link
G Prkcg protein kinase C gamma ISO RGD PMID:9545390 RGD:737791 NCBI chrNW_004936994:87,525...105,125
Ensembl chrNW_004936994:87,519...105,134 		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 chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177 		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 PMID:11773002 PMID:15085354 PMID:17932117 PMID:20309403 PMID:20811066 More... NCBI chrNW_004936580:604,709...632,788
Ensembl chrNW_004936580:605,138...633,104 		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, 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 | 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 PMID:3071870 PMID:3253185 PMID:16199547 PMID:16799052 PMID:18317597 More... NCBI chrNW_004936994:239,688...252,269
Ensembl chrNW_004936994:239,682...252,317 		JBrowse link
G Prpf6 pre-mRNA processing factor 6 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, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:31456290 NCBI chrNW_004936514:11,175,410...11,220,928
Ensembl chrNW_004936514:11,175,526...11,220,241 		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, 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 PMID:9536098 PMID:11468273 PMID:12714658 PMID:16799052 PMID:17576681 More... NCBI chrNW_004936538:7,780,022...7,814,575
Ensembl chrNW_004936538:7,780,022...7,814,575 		JBrowse link
G Prph2 peripherin 2 ISO 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: 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: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7754251 More... NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO DNA:missense mutation:exon:p.S16P (human) RGD PMID:25491489 RGD:11056008 NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449 		JBrowse link
G Pten phosphatase and tensin homolog onset ISO mRNA:increased expression:retina (rat) RGD PMID:22432009 RGD:12802340 NCBI chrNW_004936735:1,252,414...1,338,318
Ensembl chrNW_004936735:1,252,414...1,338,323 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chrNW_004936477:14,066,063...14,140,310 JBrowse link
G Rbp3 retinol binding protein 3 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, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:9614228 PMID:19074801 PMID:21067480 PMID:23105016 PMID:24963161 More... NCBI chrNW_004936554:7,329,155...7,340,434
Ensembl chrNW_004936554:7,329,028...7,338,074 		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 chrNW_004936565:2,608,788...2,649,992
Ensembl chrNW_004936565:2,608,792...2,650,604 		JBrowse link
G Rdh12 retinol dehydrogenase 12 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: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 More... NCBI chrNW_004936495:11,111,247...11,121,976
Ensembl chrNW_004936495:11,111,105...11,121,341 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chrNW_004936646:191,136...195,279
Ensembl chrNW_004936646:191,128...199,777 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:27889058 PMID:28492532 PMID:29120066 NCBI chrNW_004936588:800,492...804,769
Ensembl chrNW_004936588:799,414...809,852 		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 PMID:10581022 PMID:16199547 PMID:22995991 PMID:24265693 PMID:25741868 More... NCBI chrNW_004936767:855,811...866,941
Ensembl chrNW_004936767:855,856...866,554 		JBrowse link
G Rho rhodopsin treatment ISO 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: 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
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: 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
RGD		 PMID:1301135 PMID:1303237 PMID:1484692 PMID:1580841 PMID:1765377 More... RGD:8547992 RGD:8548515 RGD:8548552 NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664 		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 chrNW_004936618:3,678,400...4,047,994
Ensembl chrNW_004936618:3,606,524...4,047,711 		JBrowse link
G Ripk1 receptor interacting serine/threonine kinase 1 ISO RGD PMID:22908283 RGD:7777166 NCBI chrNW_004936534:9,326,307...9,361,943
Ensembl chrNW_004936534:9,325,249...9,361,949 		JBrowse link
G Ripk3 receptor interacting serine/threonine kinase 3 ISO RGD PMID:22908283 RGD:7777166 NCBI chrNW_004936722:209,019...212,817
Ensembl chrNW_004936722:209,013...212,839 		JBrowse link
G Rlbp1 retinaldehyde binding protein 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, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:2392416 PMID:9326942 PMID:9536098 PMID:10102298 PMID:10102299 More... NCBI chrNW_004936483:15,086,485...15,097,980
Ensembl chrNW_004936483:15,084,756...15,096,072 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 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 PMID:3442652 PMID:7904211 PMID:8202715 PMID:8595413 PMID:9187681 More... NCBI chrNW_004936581:642,322...644,286
Ensembl chrNW_004936581:641,753...644,637 		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, 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, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:3253185 PMID:9536098 PMID:10484783 PMID:10845615 PMID:11095597 More... NCBI chrNW_004936496:1,524,123...1,583,114 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 chrNW_004936675:2,527,406...2,564,464 JBrowse link
G Rp2 RP2 activator of ARL3 GTPase 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 Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 PMID:10634633 More... NCBI chrNW_004936502:12,656,187...12,701,689
Ensembl chrNW_004936502:12,656,043...12,701,742 		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 chrNW_004936478:8,687,584...8,722,345 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 		RGD
ClinVar		 PMID:4492281 PMID:9326941 PMID:9501220 PMID:9843205 PMID:10090910 More... RGD:9585645 NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015 		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 		ClinVar PMID:288634 PMID:3214136 PMID:7611300 PMID:8673101 PMID:8817343 More... NCBI chrNW_004936502:5,163,164...5,212,940 JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:11528500 PMID:23105016 PMID:24516651 PMID:25741868 PMID:28041643 More... NCBI chrNW_004936880:440,900...511,503
Ensembl chrNW_004936880:440,737...512,685 		JBrowse link
G Sag S-antigen visual arrestin 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:9452120 PMID:9501883 PMID:9536098 PMID:15234147 PMID:16199547 More... NCBI chrNW_004936525:3,932,118...3,965,651
Ensembl chrNW_004936525:3,931,933...3,964,834 		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 chrNW_004936471:35,414,507...35,834,438
Ensembl chrNW_004936471:35,416,571...35,835,048 		JBrowse link
G Sema4a semaphorin 4A 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: 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 chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human gene in a rat model RGD PMID:18837062 RGD:8554900 NCBI chrNW_004936538:7,885,816...7,898,308
Ensembl chrNW_004936538:7,885,475...7,899,113 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chrNW_004936778:823,376...846,843
Ensembl chrNW_004936778:829,550...848,833 		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 chrNW_004936471:25,872,854...25,909,102
Ensembl chrNW_004936471:25,872,423...25,908,158 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO OMIM:268000 MouseDO NCBI chrNW_004936602:233,753...274,982 JBrowse link
G Smim27 small integral membrane protein 27 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chrNW_004936524:1,229,556...1,230,474
Ensembl chrNW_004936524:1,229,722...1,230,211 		JBrowse link
G Snx17 sorting nexin 17 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chrNW_004936493:5,207,134...5,212,957
Ensembl chrNW_004936493:5,204,846...5,212,957 		JBrowse link
G Sod1 superoxide dismutase 1 severity ISO human gene in a mouse model RGD PMID:19293779 PMID:21736939 RGD:8158049 RGD:8655617 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:19293779 RGD:8158049 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Spata7 spermatogenesis associated 7 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 | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:9536098 PMID:17576681 PMID:19268277 PMID:22334370 PMID:23847139 More... NCBI chrNW_004936488:15,878,167...15,911,301
Ensembl chrNW_004936488:15,878,158...15,911,415 		JBrowse link
G Tfpt TCF3 fusion partner ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chrNW_004936994:234,978...239,425
Ensembl chrNW_004936994:234,992...239,425 		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 | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:18509552 PMID:19373681 PMID:22334370 PMID:25741868 PMID:28041643 More... NCBI chrNW_004936524:1,219,101...1,229,937
Ensembl chrNW_004936524:1,219,907...1,229,723 		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 chrNW_004936483:723,784...856,839
Ensembl chrNW_004936483:724,018...858,855 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO 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 		ClinVar PMID:14520415 PMID:16308660 PMID:25097241 PMID:25326637 PMID:25741868 More... NCBI chrNW_004936488:16,258,247...16,306,077
Ensembl chrNW_004936488:16,258,058...16,306,589 		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 chrNW_004936488:4,723,314...4,983,926
Ensembl chrNW_004936488:4,724,909...4,983,318 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chrNW_004936496:10,409,948...10,466,722
Ensembl chrNW_004936496:10,454,605...10,465,301 		JBrowse link
G Tulp1 TUB like protein 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 PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 More... NCBI chrNW_004936476:23,744,707...23,757,002
Ensembl chrNW_004936476:23,744,757...23,756,565 		JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11006213 NCBI chrNW_004936538:4,772,236...4,778,149
Ensembl chrNW_004936538:4,772,283...4,778,137 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
G Ush2a usherin susceptibility ISO DNA:missense mutation, snp:cds, intron:p.G1734R, g.IVS32+1G>A (human)
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 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 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
DNA:missense mutation:cds:p.C759F (human)
DNA:snps, deletions, insertion:multiple (human) 		RGD
ClinVar		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:3258136 PMID:3526624 More... RGD:8547963 RGD:8547966 RGD:8547967 NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:eye: RGD PMID:18326689 RGD:7483592 NCBI chrNW_004936476:16,245,134...16,261,180
Ensembl chrNW_004936476:16,247,100...16,260,673 		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 chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chrNW_004936488:3,487,718...3,507,802
Ensembl chrNW_004936488:3,487,702...3,508,191 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:34906470 NCBI chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979 		JBrowse link
G Zdhhc24 zDHHC palmitoyltransferase 24 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 More... NCBI chrNW_004936599:3,047,011...3,054,512
Ensembl chrNW_004936599:3,047,011...3,054,498 		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 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 chrNW_004936495:11,132,025...11,191,446
Ensembl chrNW_004936495:11,134,138...11,190,863 		JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:28095122 NCBI chrNW_004936562:2,394,368...2,400,924
Ensembl chrNW_004936562:2,393,751...2,400,650 		JBrowse link
G Znf513 zinc finger protein 513 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: Tapetoretinal degeneration ClinVar PMID:20227676 PMID:20797688 PMID:25741868 PMID:28492532 NCBI chrNW_004936493:5,203,926...5,207,031
Ensembl chrNW_004936493:5,204,020...5,207,025 		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 ClinVar PMID:17325179 PMID:20029649 PMID:23419329 PMID:23769331 PMID:23982839 More... NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527 		JBrowse link
G Rp1 RP1 axonemal microtubule associated ISO ClinVar Annotator: match by term: RP1-related condition | ClinVar Annotator: match by term: RP1-related retinal dystrophy | ClinVar Annotator: match by term: Retinitis pigmentosa 1 ClinVar
OMIM		 PMID:1783394 PMID:3196484 PMID:8931712 PMID:9536098 PMID:10391211 More... NCBI chrNW_004936496:1,524,123...1,583,114 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 OMIM
ClinVar		 PMID:9536098 PMID:11875049 PMID:11875050 PMID:15851576 PMID:15882147 More... NCBI chrNW_004936479:15,523,342...15,540,229
Ensembl chrNW_004936479:15,523,037...15,540,173 		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 ClinVar Annotator: match by term: PRPF31-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 11 OMIM
ClinVar		 PMID:3123501 PMID:5764686 PMID:8004108 PMID:8025041 PMID:8808602 More... NCBI chrNW_004936994:239,688...252,269
Ensembl chrNW_004936994:239,682...252,317 		JBrowse link
retinitis pigmentosa 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspm assembly factor for spindle microtubules ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chrNW_004936567:6,653,382...6,701,856
Ensembl chrNW_004936567:6,653,728...6,701,752 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM | ClinVar Annotator: match by term: Retinitis pigmentosa 12 OMIM
ClinVar		 PMID:1389483 PMID:1427914 PMID:2906847 PMID:2953188 PMID:3012021 More... NCBI chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766 		JBrowse link
G Dennd1b DENN domain containing 1B ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chrNW_004936567:6,131,433...6,353,003
Ensembl chrNW_004936567:6,134,179...6,348,086 		JBrowse link
G F13b coagulation factor XIII B chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chrNW_004936567:6,712,666...6,735,539 JBrowse link
G Zbtb41 zinc finger and BTB domain containing 41 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chrNW_004936567:6,601,911...6,645,431
Ensembl chrNW_004936567:6,602,761...6,639,804 		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 chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: PRPF8-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 13 OMIM
ClinVar		 PMID:9536098 PMID:11468273 PMID:11910553 PMID:12714658 PMID:16199547 More... NCBI chrNW_004936538:7,780,022...7,814,575
Ensembl chrNW_004936538:7,780,022...7,814,575 		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 chrNW_004936538:7,780,022...7,814,575
Ensembl chrNW_004936538:7,780,022...7,814,575 		JBrowse link
G Tead3 TEA domain transcription factor 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 14 ClinVar PMID:9462750 PMID:25741868 PMID:26427415 PMID:26987071 PMID:28492532 More... NCBI chrNW_004936476:23,766,021...23,776,785
Ensembl chrNW_004936476:23,766,012...23,779,349 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 14 OMIM
ClinVar		 PMID:2552515 PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 More... NCBI chrNW_004936476:23,744,707...23,757,002
Ensembl chrNW_004936476:23,744,757...23,756,565 		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 chrNW_004936490:1,764,845...1,773,752
Ensembl chrNW_004936490:1,764,795...1,774,645 		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 ClinVar Annotator: match by term: PRPF3-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 18 OMIM
ClinVar		 PMID:11773002 PMID:15085354 PMID:16799052 PMID:17517693 PMID:17932117 More... NCBI chrNW_004936580:604,709...632,788
Ensembl chrNW_004936580:605,138...633,104 		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 ClinVar Annotator: match by term: Retinitis pigmentosa 19 ClinVar
OMIM		 PMID:248200 PMID:3002862 PMID:3196484 PMID:4097981 PMID:8533764 More... NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527 		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 ISO OMIM:312600 MouseDO NCBI chrNW_004936600:3,190,212...3,229,831
Ensembl chrNW_004936600:3,190,208...3,232,755 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: RP2-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 2 OMIM
ClinVar		 PMID:9536098 PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 More... NCBI chrNW_004936502:12,656,187...12,701,689
Ensembl chrNW_004936502:12,656,043...12,701,742 		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 ClinVar Annotator: match by term: RPE65-related disorder | ClinVar Annotator: match by term: Retinitis pigmentosa 20 OMIM
ClinVar		 PMID:3196484 PMID:4492281 PMID:9326927 PMID:9326941 PMID:9501220 More... NCBI chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015 		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 chrNW_004936470:3,292,961...3,331,915
Ensembl chrNW_004936470:3,292,249...3,331,800 		JBrowse link
retinitis pigmentosa 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101963575 eyes shut homolog ISO ClinVar Annotator: match by term: EYS-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 25 OMIM
ClinVar		 PMID:2033377 PMID:3196484 PMID:3248392 PMID:3253185 PMID:3442652 More... NCBI chrNW_004936476:158,391...1,289,639 JBrowse link
G Phf3 PHD finger protein 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 25 ClinVar PMID:3442652 PMID:17011488 PMID:18976725 PMID:20237254 PMID:20333770 More... NCBI chrNW_004936476:1,295,697...1,380,608
Ensembl chrNW_004936476:1,296,423...1,368,411 		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 ClinVar Annotator: match by term: Retinitis pigmentosa 26 OMIM
ClinVar		 PMID:9536098 PMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936509:10,294,247...10,404,743
Ensembl chrNW_004936509:10,294,988...10,404,609 		JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 26 ClinVar PMID:24938718 PMID:25741868 PMID:28492532 PMID:29555955 PMID:31736247 More... NCBI chrNW_004936509:10,215,283...10,293,653
Ensembl chrNW_004936509:10,215,283...10,292,252 		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 OMIM
ClinVar		 PMID:10192380 PMID:11039579 PMID:11385710 PMID:11694879 PMID:11879142 More... NCBI chrNW_004936722:448,006...454,064
Ensembl chrNW_004936722:447,967...454,553 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2, mitochondrial ISO ClinVar Annotator: match by term: Retinitis pigmentosa 27 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936722:428,473...450,452
Ensembl chrNW_004936722:428,307...437,328 		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 ClinVar Annotator: match by term: FAM161A-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 28 OMIM
ClinVar		 PMID:9536098 PMID:10507729 PMID:16199547 PMID:17576681 PMID:20705278 More... NCBI chrNW_004936491:7,202,877...7,221,493
Ensembl chrNW_004936491:7,212,194...7,221,618 		JBrowse link
retinitis pigmentosa 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap47 cilia and flagella associated protein 47 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chrNW_004936502:3,254,001...3,630,408 JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chrNW_004936502:4,631,750...4,676,686
Ensembl chrNW_004936502:4,635,149...4,676,904 		JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chrNW_004936502:4,690,810...4,701,615
Ensembl chrNW_004936502:4,690,776...4,701,750 		JBrowse link
G Iqcb1 IQ motif containing B1 severity ISO RGD PMID:21857984 PMID:22183348 RGD:11352374 RGD:11537386 NCBI chrNW_004936536:8,164,120...8,213,690
Ensembl chrNW_004936536:8,163,554...8,213,708 		JBrowse link
G Lancl3 LanC like family member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chrNW_004936502:4,419,279...4,522,025
Ensembl chrNW_004936502:4,419,474...4,520,795 		JBrowse link
G LOC120885883 huntingtin-interacting protein M ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chrNW_004936502:5,234,253...5,291,891
Ensembl chrNW_004936502:5,234,253...5,291,891 		JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chrNW_004936502:4,189,283...4,288,089
Ensembl chrNW_004936502:4,189,254...4,291,140 		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 chrNW_004936502:12,656,187...12,701,689
Ensembl chrNW_004936502:12,656,043...12,701,742 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 OMIM
ClinVar		 PMID:349855 PMID:7611300 PMID:8673101 PMID:8817343 PMID:9326322 More... NCBI chrNW_004936502:5,163,164...5,212,940 JBrowse link
G Rpgrip1l RPGRIP1 like severity ISO DNA:polymorphism:cds:p.R744Q (rs2302677)(human) RGD PMID:22183348 RGD:11352374 NCBI chrNW_004936475:6,219,187...6,321,612
Ensembl chrNW_004936475:6,215,475...6,321,618 		JBrowse link
G Srpx sushi repeat containing protein X-linked ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chrNW_004936502:5,010,692...5,107,221
Ensembl chrNW_004936502:5,010,682...5,107,254 		JBrowse link
G Sytl5 synaptotagmin like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chrNW_004936502:4,873,750...4,987,742
Ensembl chrNW_004936502:4,750,233...4,987,887 		JBrowse link
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chrNW_004936502:5,416,454...5,538,870
Ensembl chrNW_004936502:5,416,454...5,538,905 		JBrowse link
G Xk X-linked Kx blood group antigen, Kell and VPS13A binding protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chrNW_004936502:4,532,100...4,584,931
Ensembl chrNW_004936502:4,532,100...4,587,439 		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 ClinVar Annotator: match by term: FSCN2-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 30 OMIM
ClinVar		 PMID:9536098 PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 More... NCBI chrNW_004936594:5,184,133...5,195,340
Ensembl chrNW_004936594:5,184,628...5,191,985 		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 OMIM
ClinVar		 PMID:16189705 PMID:17924349 PMID:18509552 PMID:19373681 PMID:22334370 More... NCBI chrNW_004936524:1,219,101...1,229,937
Ensembl chrNW_004936524:1,219,907...1,229,723 		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 OMIM
ClinVar		 PMID:16189710 PMID:25741868 PMID:28492532 PMID:30157172 NCBI chrNW_004936704:518,040...539,526
Ensembl chrNW_004936704:517,707...539,585 		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 ClinVar Annotator: match by term: Retinitis pigmentosa 35 OMIM
ClinVar		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chrNW_004936580:5,404,380...5,431,183
Ensembl chrNW_004936580:5,406,194...5,431,185 		JBrowse link
retinitis pigmentosa 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cygb cytoglobin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 36 ClinVar PMID:16938425 PMID:20507925 PMID:23661369 PMID:23805042 PMID:24992209 More... NCBI chrNW_004936594:1,602,436...1,613,783
Ensembl chrNW_004936594:1,604,710...1,613,783 		JBrowse link
G Prcd photoreceptor disc component ISO ClinVar Annotator: match by term: Retinitis pigmentosa 36 OMIM
ClinVar		 PMID:16938425 PMID:20507925 PMID:23661369 PMID:23805042 PMID:24992209 More... NCBI chrNW_004936594:1,615,165...1,628,455
Ensembl chrNW_004936594:1,616,794...1,619,049 		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 OMIM
ClinVar		 PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 PMID:15459973 More... NCBI chrNW_004936471:31,229,322...31,236,093
Ensembl chrNW_004936471:31,229,564...31,235,654 		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 chrNW_004936783:607,425...704,879
Ensembl chrNW_004936783:607,382...704,889 		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:3196484 More... NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		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 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
ClinVar		 PMID:1301135 PMID:1302614 PMID:1303237 PMID:1356370 PMID:1418997 More... NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664 		JBrowse link
retinitis pigmentosa 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Retinitis pigmentosa 40 ClinVar PMID:25741868 NCBI chrNW_004936477:22,416,505...22,417,543
Ensembl chrNW_004936477:22,416,539...22,417,543 		JBrowse link
G Myl5 myosin light chain 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 40 ClinVar NCBI chrNW_004936477:22,410,303...22,416,940
Ensembl chrNW_004936477:22,410,270...22,413,184 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: PDE6B-related disorder | ClinVar Annotator: match by term: Retinitis pigmentosa 40 OMIM
ClinVar		 PMID:3203739 PMID:3253185 PMID:7599633 PMID:7724547 PMID:8394174 More... NCBI chrNW_004936477:22,418,037...22,472,251
Ensembl chrNW_004936477:22,417,453...22,472,185 		JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 40 ClinVar NCBI chrNW_004936477:22,403,186...22,410,563
Ensembl chrNW_004936477:22,403,239...22,409,878 		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 ClinVar Annotator: match by term: Retinitis pigmentosa 41 OMIM
ClinVar		 PMID:3181667 PMID:9536098 PMID:10205271 PMID:10587575 PMID:16199547 More... NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177 		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 OMIM
ClinVar		 PMID:1872134 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19520207 More... NCBI chrNW_004936478:279,580...337,655
Ensembl chrNW_004936478:279,067...337,752 		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 chrNW_004936504:5,018,171...5,088,333
Ensembl chrNW_004936504:5,018,064...5,092,024 		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 chrNW_004936767:855,811...866,941
Ensembl chrNW_004936767:855,856...866,554 		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: Retinitis pigmentosa 45 OMIM
ClinVar		 PMID:3196484 PMID:9536098 PMID:11379879 PMID:15557452 PMID:16199547 More... NCBI chrNW_004936475:9,844,438...9,908,009 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 ClinVar Annotator: match by term: IDH3B-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 46 OMIM
ClinVar		 PMID:18806796 PMID:25741868 PMID:28492532 PMID:31736247 NCBI chrNW_004936485:16,033,287...16,038,097
Ensembl chrNW_004936485:16,033,128...16,042,821 		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 chrNW_004936525:3,932,118...3,965,651
Ensembl chrNW_004936525:3,931,933...3,964,834 		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 chrNW_004936476:17,679,505...17,688,970
Ensembl chrNW_004936476:17,679,500...17,691,037 		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 ClinVar Annotator: match by term: CNGA1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 49 OMIM
ClinVar		 PMID:7479749 PMID:12362048 PMID:15570217 PMID:16199547 PMID:18310263 More... NCBI chrNW_004936482:14,091,343...14,107,793
Ensembl chrNW_004936482:14,091,913...14,107,787 		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 chrNW_004936475:9,844,438...9,908,009 JBrowse link
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 49 ClinVar PMID:1423936 PMID:1552912 PMID:1634614 PMID:1638703 PMID:1975517 More... NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129 		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:2133066 PMID:9700209 PMID:10788642 PMID:10798642 PMID:18985398 More... NCBI chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 50 | ClinVar Annotator: match by term: Retinitis pigmentosa, concentric ClinVar PMID:2133066 PMID:10788642 PMID:10798642 PMID:18985398 PMID:20927214 More... NCBI chrNW_004936581:1,118,905...1,120,592 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 chrNW_004936488:16,258,247...16,306,077
Ensembl chrNW_004936488:16,258,058...16,306,589 		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 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
ClinVar		 PMID:4543597 PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 More... NCBI chrNW_004936493:3,768,032...3,781,511
Ensembl chrNW_004936493:3,768,688...3,777,634 		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:16199547 PMID:17160889 PMID:19858128 PMID:19956407 More... NCBI chrNW_004936666:3,077,006...3,102,469
Ensembl chrNW_004936666:3,076,778...3,103,649 		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 ClinVar Annotator: match by term: Retinitis pigmentosa 56 OMIM
ClinVar		 PMID:2487627 PMID:3253185 PMID:16199547 PMID:20673862 PMID:24876279 More... NCBI chrNW_004936630:1,982,860...2,069,472
Ensembl chrNW_004936630:1,982,783...2,071,953 		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 chrNW_004936594:5,263,345...5,267,240
Ensembl chrNW_004936594:5,263,333...5,267,476 		JBrowse link
retinitis pigmentosa 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf513 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 chrNW_004936493:5,203,926...5,207,031
Ensembl chrNW_004936493:5,204,020...5,207,025 		JBrowse link
retinitis pigmentosa 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:11,148,857...11,197,312 JBrowse link
G Aunip aurora kinase A and ninein interacting protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,409,463...10,430,158
Ensembl chrNW_004936474:10,409,022...10,430,187 		JBrowse link
G Catsper4 cation channel sperm associated 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,707,630...10,719,367
Ensembl chrNW_004936474:10,707,630...10,719,248 		JBrowse link
G Cep85 centrosomal protein 85 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,747,025...10,775,959
Ensembl chrNW_004936474:10,747,839...10,775,630 		JBrowse link
G Cnksr1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,697,777...10,706,988
Ensembl chrNW_004936474:10,699,819...10,706,591 		JBrowse link
G Crybg2 crystallin beta-gamma domain containing 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,822,846...10,840,167
Ensembl chrNW_004936474:10,822,852...10,845,422 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ibb | ClinVar Annotator: match by term: Retinitis pigmentosa 59 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21295282 PMID:21295283 More... NCBI chrNW_004936474:10,914,018...10,949,138
Ensembl chrNW_004936474:10,913,903...10,950,095 		JBrowse link
G Extl1 exostosin like glycosyltransferase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,568,649...10,580,597
Ensembl chrNW_004936474:10,568,603...10,580,632 		JBrowse link
G Fam110d family with sequence similarity 110 member D ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,682,107...10,685,721
Ensembl chrNW_004936474:10,683,979...10,685,074 		JBrowse link
G Gpatch3 G-patch domain containing 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:11,298,802...11,310,609
Ensembl chrNW_004936474:11,298,620...11,310,637 		JBrowse link
G Gpn2 GPN-loop GTPase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:11,291,093...11,298,520
Ensembl chrNW_004936474:11,290,998...11,298,627 		JBrowse link
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:11,341,415...11,351,066
Ensembl chrNW_004936474:11,343,539...11,351,168 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,196,228...10,219,137
Ensembl chrNW_004936474:10,196,211...10,221,777 		JBrowse link
G Lin28a lin-28 homolog A ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,896,153...10,909,247 JBrowse link
G Man1c1 mannosidase alpha class 1C member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,297,853...10,367,166 JBrowse link
G Mtfr1l mitochondrial fission regulator 1 like ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,398,656...10,410,261
Ensembl chrNW_004936474:10,398,208...10,413,622 		JBrowse link
G Nr0b2 nuclear receptor subfamily 0 group B member 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:11,316,857...11,319,669
Ensembl chrNW_004936474:11,316,700...11,319,669 		JBrowse link
G Nudc nuclear distribution C, dynein complex regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:11,327,986...11,341,357
Ensembl chrNW_004936474:11,327,942...11,343,672 		JBrowse link
G Pafah2 platelet activating factor acetylhydrolase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,523,605...10,554,868
Ensembl chrNW_004936474:10,520,184...10,554,840 		JBrowse link
G Paqr7 progestin and adipoQ receptor family member 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,431,810...10,434,004
Ensembl chrNW_004936474:10,432,769...10,433,806 		JBrowse link
G Pdik1l PDLIM1 interacting kinase 1 like ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,641,399...10,650,638
Ensembl chrNW_004936474:10,641,399...10,650,754 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis class V ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:11,204,595...11,215,677
Ensembl chrNW_004936474:11,205,368...11,216,528 		JBrowse link
G Rps6ka1 ribosomal protein S6 kinase A1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,996,867...11,030,504
Ensembl chrNW_004936474:10,996,813...11,030,557 		JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,381,646...10,396,638
Ensembl chrNW_004936474:10,381,743...10,394,502 		JBrowse link
G Sfn stratifin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:11,274,927...11,279,427
Ensembl chrNW_004936474:11,246,534...11,279,433 		JBrowse link
G Sh3bgrl3 SH3 domain binding glutamate rich protein like 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,776,700...10,778,299
Ensembl chrNW_004936474:10,776,725...10,778,299 		JBrowse link
G Slc30a2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,581,504...10,589,364
Ensembl chrNW_004936474:10,581,480...10,589,442 		JBrowse link
G Stmn1 stathmin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,470,006...10,475,557
Ensembl chrNW_004936474:10,468,728...10,475,594 		JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,598,571...10,610,197
Ensembl chrNW_004936474:10,598,561...10,633,001 		JBrowse link
G Ubxn11 UBX domain protein 11 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,778,367...10,800,805
Ensembl chrNW_004936474:10,778,990...10,797,617 		JBrowse link
G Zdhhc18 zDHHC palmitoyltransferase 18 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:11,246,540...11,272,167
Ensembl chrNW_004936474:11,245,734...11,270,391 		JBrowse link
G Znf593 zinc finger protein 593 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,691,090...10,692,517
Ensembl chrNW_004936474:10,691,252...10,694,734 		JBrowse link
G Znf683 zinc finger protein 683 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chrNW_004936474:10,851,249...10,859,092 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 chrNW_004936502:5,163,164...5,212,940 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 chrNW_004936514:11,175,410...11,220,928
Ensembl chrNW_004936514:11,175,526...11,220,241 		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 chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376 		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: Retinitis pigmentosa 62 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21148103 PMID:21825139 More... NCBI chrNW_004936534:2,170,853...2,239,647
Ensembl chrNW_004936534:2,170,794...2,224,065 		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 chrNW_004936554:7,329,155...7,340,434
Ensembl chrNW_004936554:7,329,028...7,338,074 		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 chrNW_004936557:1,683,027...1,695,410
Ensembl chrNW_004936557:1,682,984...1,695,414 		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 PMID:32036094 NCBI chrNW_004936593:1,938,392...2,045,639
Ensembl chrNW_004936593:1,991,491...2,044,329 		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: Retinitis pigmentosa 69 OMIM
ClinVar		 PMID:24680887 PMID:25741868 PMID:28492532 PMID:28837078 PMID:29057815 More... NCBI chrNW_004936620:4,188,350...4,310,708
Ensembl chrNW_004936620:4,185,898...4,310,738 		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 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
ClinVar		 PMID:1684223 PMID:3441139 PMID:3646071 PMID:7493155 PMID:7825692 More... NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		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 OMIM
ClinVar		 PMID:7904211 PMID:8202715 PMID:16799052 PMID:25741868 PMID:26103963 More... NCBI chrNW_004936581:642,322...644,286
Ensembl chrNW_004936581:641,753...644,637 		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 chrNW_004936559:305,443...321,051
Ensembl chrNW_004936559:305,392...321,080 		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:11030072 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chrNW_004936493:5,108,437...5,145,160
Ensembl chrNW_004936493:5,108,437...5,145,160 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 71 ClinVar PMID:9536098 PMID:11030072 PMID:17576681 PMID:24140113 PMID:25168386 More... NCBI chrNW_004936493:5,145,237...5,146,904
Ensembl chrNW_004936493:5,142,970...5,146,778 		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 chrNW_004936562:2,394,368...2,400,924
Ensembl chrNW_004936562:2,393,751...2,400,650 		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 chrNW_004936570:257,636...297,797
Ensembl chrNW_004936570:258,820...297,762 		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 chrNW_004936475:8,785,914...8,810,490
Ensembl chrNW_004936475:8,785,154...8,810,541 		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 chrNW_004936493:5,470,623...5,488,542
Ensembl chrNW_004936493:5,469,449...5,488,549 		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:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chrNW_004936474:27,229,262...27,239,034
Ensembl chrNW_004936474:27,229,113...27,239,123 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 76 ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chrNW_004936474:27,221,691...27,227,226
Ensembl chrNW_004936474:27,221,586...27,227,015 		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 ClinVar Annotator: match by term: REEP6-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 77 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27889058 PMID:28369466 More... NCBI chrNW_004936588:800,492...804,769
Ensembl chrNW_004936588:799,414...809,852 		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 chrNW_004936588:4,522,517...4,572,551
Ensembl chrNW_004936588:4,514,691...4,572,518 		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 chrNW_004936521:9,067,062...9,139,112
Ensembl chrNW_004936521:9,066,999...9,159,793 		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 ISO ClinVar Annotator: match by term: Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | ClinVar Annotator: match by term: Retinitis pigmentosa 80 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282595 PMID:22503633 More... NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520 		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 ClinVar
OMIM		 PMID:16199547 PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 More... NCBI chrNW_004936488:5,011,792...5,090,980
Ensembl chrNW_004936488:5,011,642...5,091,007 		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 chrNW_004936600:3,190,212...3,229,831
Ensembl chrNW_004936600:3,190,208...3,232,755 		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 chrNW_004936475:21,811,693...21,830,560
Ensembl chrNW_004936475:21,811,463...21,830,577 		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 chrNW_004936546:3,737,908...3,783,492
Ensembl chrNW_004936546:3,737,851...3,783,588 		JBrowse link
retinitis pigmentosa 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiaa1549 KIAA1549 ortholog 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 chrNW_004936592:3,132,166...3,215,835
Ensembl chrNW_004936592:3,132,703...3,275,199 		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 chrNW_004936591:3,347,346...3,368,062
Ensembl chrNW_004936591:3,347,272...3,368,015 		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 chrNW_004936675:2,527,406...2,564,464 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 chrNW_004936485:19,180,751...19,198,321
Ensembl chrNW_004936485:19,180,571...19,198,429 		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 OMIM
ClinVar		 PMID:1479605 PMID:3181667 PMID:8025041 PMID:8513323 PMID:12032732 More... NCBI chrNW_004936478:8,687,584...8,722,345 JBrowse link
retinitis pigmentosa 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsbg1 acyl-CoA synthetase bubblegum family member 1 ISO ClinVar Annotator: match by term: IDH3A-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936471:36,767,656...36,822,677
Ensembl chrNW_004936471:36,767,652...36,822,722 		JBrowse link
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 chrNW_004936471:36,823,003...36,842,576
Ensembl chrNW_004936471:36,822,971...36,842,610 		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 ClinVar Annotator: match by term: Macular dystrophy, concentric annular ClinVar PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 More... NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy ClinVar
OMIM		 PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 More... NCBI chrNW_004936788:1,258,547...1,401,910
Ensembl chrNW_004936788:1,268,614...1,401,998 		JBrowse link
G LOC101960714 cone-rod homeobox protein ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy ClinVar PMID:22968130 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25270190 More... NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234 		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 PMID:30085091 NCBI chrNW_004936521:9,175,916...9,223,546
Ensembl chrNW_004936521:9,175,447...9,223,583 		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:25741868 PMID:28492532 PMID:30267408 NCBI chrNW_004936477:12,315,829...12,415,915
Ensembl chrNW_004936477:12,315,799...12,408,603 		JBrowse link
retinitis pigmentosa 95 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rax2 retina and anterior neural fold homeobox 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 95 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30377383 NCBI chrNW_004936588:2,133,398...2,135,329
Ensembl chrNW_004936588:2,134,211...2,135,358 		JBrowse link
retinitis pigmentosa 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101965792 von Willebrand factor A domain-containing protein 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 97 OMIM
ClinVar		 PMID:25741868 PMID:27229527 NCBI chrNW_004936747:1,798,200...2,018,722
Ensembl chrNW_004936747:1,797,136...2,064,072 		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 chrNW_004936581:1,654,021...1,658,526
Ensembl chrNW_004936581:1,653,961...1,658,544 		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 chrNW_004936577:2,814,464...2,834,068
Ensembl chrNW_004936577:2,814,390...2,832,790 		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 ClinVar Annotator: match by term: ARL2BP-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23849777 PMID:25741868 PMID:27790702 More... NCBI chrNW_004936475:9,343,333...9,352,089
Ensembl chrNW_004936475:9,343,336...9,352,065 		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 chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		JBrowse link
retinitis pigmentosa-deafness syndrome 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-deafness syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		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 chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238 		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: Posterior column ataxia with retinitis pigmentosa | ClinVar Annotator: match by term: RETINOPATHY-SENSORY NEUROPATHY SYNDROME OMIM
ClinVar		 PMID:9409377 PMID:9536098 PMID:9855554 PMID:17576681 PMID:21070897 More... NCBI chrNW_004936557:693,445...727,166
Ensembl chrNW_004936557:692,489...726,965 		JBrowse link
G Flvcr2 FLVCR choline and putative heme transporter 2 ISO ClinVar Annotator: match by term: RETINOPATHY-SENSORY NEUROPATHY SYNDROME ClinVar PMID:20206334 PMID:20518025 PMID:25741868 PMID:28492532 NCBI chrNW_004936488:4,653,891...4,713,982
Ensembl chrNW_004936488:4,653,692...4,712,313 		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 ClinVar
OMIM		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179 		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 chrNW_004936470:41,354,387...41,401,308
Ensembl chrNW_004936470:41,354,287...41,401,317 		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 OMIM
ClinVar		 PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chrNW_004936623:802,152...904,198 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 chrNW_004936487:17,675,401...17,686,224
Ensembl chrNW_004936487:17,675,303...17,687,943 		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 Abca3 ATP binding cassette subfamily A member 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,735,206...1,778,100
Ensembl chrNW_004936694:1,736,207...1,778,116 		JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:336,269...449,490
Ensembl chrNW_004936694:336,269...452,943 		JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,698,234...4,723,131
Ensembl chrNW_004936530:4,695,401...4,722,924 		JBrowse link
G Arhgdig Rho GDP dissociation inhibitor gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:637,150...640,984
Ensembl chrNW_004936501:637,299...639,096 		JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit c ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,536,393...1,542,218 JBrowse link
G Axin1 axin 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:599,963...633,837
Ensembl chrNW_004936501:599,919...633,873 		JBrowse link
G Baiap3 BAI1 associated protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,542,521...2,556,540
Ensembl chrNW_004936694:2,543,195...2,556,540 		JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,136,862...1,144,045
Ensembl chrNW_004936694:1,138,125...1,143,787 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,836,566...1,838,950
Ensembl chrNW_004936694:1,837,357...1,838,819 		JBrowse link
G C1qtnf8 C1q and TNF related 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:53,208...54,391 JBrowse link
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,702,224...2,724,574 JBrowse link
G Capn15 calpain 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:444,100...458,461
Ensembl chrNW_004936501:444,085...456,654 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,856,529...1,868,107
Ensembl chrNW_004936694:1,856,603...1,866,617 		JBrowse link
G Ccdc154 coiled-coil domain containing 154 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,468,281...2,475,901
Ensembl chrNW_004936694:2,468,281...2,475,487 		JBrowse link
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:289,765...294,272 JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,596,897...1,620,588
Ensembl chrNW_004936694:1,596,766...1,620,643 		JBrowse link
G Cdip1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,559,062...4,578,896
Ensembl chrNW_004936530:4,556,566...4,562,503 		JBrowse link
G Chtf18 chromosome transmission fidelity factor 18 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:232,387...240,866 JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:277,525...286,929
Ensembl chrNW_004936501:277,518...286,932 		JBrowse link
G Clcn7 chloride voltage-gated channel 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,444,321...2,467,734
Ensembl chrNW_004936694:2,444,343...2,467,733 		JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,153,189...1,154,012
Ensembl chrNW_004936694:1,153,347...1,154,012 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,155,252...1,156,007
Ensembl chrNW_004936694:1,155,259...1,155,912 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:779,399...810,534
Ensembl chrNW_004936694:780,197...810,457 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:96,107...152,075
Ensembl chrNW_004936694:96,110...152,133 		JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,284,315...2,341,033
Ensembl chrNW_004936694:2,287,663...2,341,030 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:552,447...663,237
Ensembl chrNW_004936694:553,753...663,617 		JBrowse link
G CUNH16orf90 chromosome unknown C16orf90 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:810,164...815,392
Ensembl chrNW_004936694:810,306...815,052 		JBrowse link
G CUNH16orf91 chromosome unknown C16orf91 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,484,092...2,485,012
Ensembl chrNW_004936694:2,483,632...2,485,712 		JBrowse link
G CUNH16orf96 chromosome unknown C16orf96 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,599,136...4,637,123 JBrowse link
G Decr2 2,4-dienoyl-CoA reductase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:542,365...553,541
Ensembl chrNW_004936501:547,063...552,914 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,725,294...4,738,515
Ensembl chrNW_004936530:4,725,279...4,738,554 		JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:43,898...74,939
Ensembl chrNW_004936694:44,635...74,958 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:704,948...715,846
Ensembl chrNW_004936694:704,692...710,501 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,808,184...1,810,735
Ensembl chrNW_004936694:1,808,463...1,810,019 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,811,131...1,829,193
Ensembl chrNW_004936694:1,809,882...1,829,157 		JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,794,673...1,807,306
Ensembl chrNW_004936694:1,794,670...1,807,299 		JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,296,304...1,301,183
Ensembl chrNW_004936694:1,296,782...1,300,149 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,217,352...2,220,556
Ensembl chrNW_004936694:2,217,811...2,220,432 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,179,730...2,181,296 JBrowse link
G Fam234a family with sequence similarity 234 member A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:648,859...679,012
Ensembl chrNW_004936501:649,017...656,930 		JBrowse link
G Fbxl16 F-box and leucine rich repeat protein 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:308,682...320,774
Ensembl chrNW_004936501:308,531...319,055 		JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,212,517...1,236,576
Ensembl chrNW_004936694:1,215,774...1,236,606 		JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,241,550...1,251,555
Ensembl chrNW_004936694:1,243,090...1,251,591 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,051,362...2,053,812
Ensembl chrNW_004936694:2,051,325...2,053,818 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:161,419...168,012
Ensembl chrNW_004936694:163,501...167,659 		JBrowse link
G Gng13 G protein subunit gamma 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:230,439...232,426
Ensembl chrNW_004936501:232,009...232,413 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,529,634...2,540,474
Ensembl chrNW_004936694:2,529,640...2,540,328 		JBrowse link
G Hagh hydroxyacylglutathione hydrolase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,181,475...2,200,469
Ensembl chrNW_004936694:2,181,501...2,194,007 		JBrowse link
G Haghl hydroxyacylglutathione hydrolase like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:286,958...290,062
Ensembl chrNW_004936501:287,013...290,062 		JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,147,364...1,148,954
Ensembl chrNW_004936694:1,147,196...1,148,986 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,556,617...4,558,250
Ensembl chrNW_004936530:4,556,706...4,557,663 		JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 Ensembl chrNW_004936694:2,100,040...2,105,658 JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:19561590 More... NCBI chrNW_004936694:2,344,448...2,419,396
Ensembl chrNW_004936694:2,344,283...2,423,520 		JBrowse link
G Igfals insulin like growth factor binding protein acid labile subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,205,294...2,207,343
Ensembl chrNW_004936694:2,204,182...2,207,328 		JBrowse link
G Jmjd8 jumonji domain containing 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:327,053...328,789
Ensembl chrNW_004936501:327,150...328,720 		JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,265,360...2,283,887
Ensembl chrNW_004936694:2,265,360...2,283,878 		JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,418,638...1,444,609 JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,201,008...1,205,593
Ensembl chrNW_004936694:1,201,812...1,205,246 		JBrowse link
G Lmf1 lipase maturation factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:138,470...200,120
Ensembl chrNW_004936501:140,661...204,127 		JBrowse link
G LOC101977328 olfactory receptor 15 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:901,542...905,354
Ensembl chrNW_004936694:902,347...903,285 		JBrowse link
G Luc7l LUC7 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:687,352...722,720
Ensembl chrNW_004936501:687,036...722,919 		JBrowse link
G Mapk8ip3 mitogen-activated protein kinase 8 interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,223,020...2,263,388
Ensembl chrNW_004936694:2,222,996...2,263,390 		JBrowse link
G Mcrip2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:360,671...365,512
Ensembl chrNW_004936501:360,688...365,497 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:970,706...980,605 JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,099,967...2,176,279
Ensembl chrNW_004936694:2,142,800...2,176,239 		JBrowse link
G Metrn meteorin, glial cell differentiation regulator ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:295,970...301,344
Ensembl chrNW_004936501:294,359...296,020
Ensembl chrNW_004936501:294,359...296,020 		JBrowse link
G Mettl26 methyltransferase like 26 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:368,532...371,075
Ensembl chrNW_004936501:368,775...371,075 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,647,550...4,693,143
Ensembl chrNW_004936530:4,652,464...4,693,999 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,839,135...1,849,307
Ensembl chrNW_004936694:1,834,701...1,842,719 		JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,118,432...1,128,315
Ensembl chrNW_004936694:1,118,670...1,128,261 		JBrowse link
G Mrpl28 mitochondrial ribosomal protein L28 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:580,863...583,540
Ensembl chrNW_004936501:580,932...583,271 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,220,492...2,221,716
Ensembl chrNW_004936694:2,220,475...2,221,714 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,086,573...2,090,752
Ensembl chrNW_004936694:2,086,822...2,089,932 		JBrowse link
G Naa60 N-alpha-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:818,386...838,258
Ensembl chrNW_004936694:818,393...838,260 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,073,481...2,075,989
Ensembl chrNW_004936694:2,073,354...2,076,043 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,000,977...2,006,102
Ensembl chrNW_004936694:2,000,854...2,006,567 		JBrowse link
G Nhlrc4 NHL repeat containing 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:430,023...433,632 JBrowse link
G Nlrc3 NLR family CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:757,121...773,924 JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,222,055...2,222,977
Ensembl chrNW_004936694:2,221,915...2,222,814 		JBrowse link
G Nme4 NME/NM23 nucleoside diphosphate kinase 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:553,931...557,744 JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:33,738...40,716
Ensembl chrNW_004936694:35,903...44,926 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,054,429...2,060,098
Ensembl chrNW_004936694:2,057,836...2,059,891 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,017,040...2,019,583 JBrowse link
G Nthl1 nth like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,993,443...2,000,323
Ensembl chrNW_004936694:1,993,443...2,000,333 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,581,322...1,585,893
Ensembl chrNW_004936694:1,582,643...1,585,455 		JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2, cytosolic ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,208,102...2,211,910
Ensembl chrNW_004936694:2,208,518...2,211,653 		JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:153,958...161,635
Ensembl chrNW_004936694:153,959...161,635 		JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,196,650...1,200,067
Ensembl chrNW_004936694:1,196,527...1,200,091 		JBrowse link
G Pdia2 protein disulfide isomerase family A member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:634,034...637,177
Ensembl chrNW_004936501:634,118...637,000 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,444,819...1,487,628
Ensembl chrNW_004936694:1,444,880...1,488,265
Ensembl chrNW_004936694:1,444,880...1,488,265 		JBrowse link
G Pgap6 post-GPI attachment to proteins 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:564,963...580,617 JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,834,016...1,836,359 JBrowse link
G Pigq phosphatidylinositol glycan anchor biosynthesis class Q ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:415,232...429,902
Ensembl chrNW_004936501:414,905...429,600 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,923,383...1,958,160
Ensembl chrNW_004936694:1,930,621...1,957,179 		JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,191,534...1,196,532
Ensembl chrNW_004936694:1,188,442...1,199,079 		JBrowse link
G Prr35 proline rich 35 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:433,726...439,882
Ensembl chrNW_004936501:433,931...435,902 		JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,381,624...1,385,973
Ensembl chrNW_004936694:1,381,623...1,386,042 		JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,408,379...1,415,137
Ensembl chrNW_004936694:1,407,861...1,415,228 		JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,305,167...1,307,695
Ensembl chrNW_004936694:1,305,757...1,307,621 		JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,313,785...1,314,690 JBrowse link
G Ptx4 pentraxin 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,435,291...2,439,837
Ensembl chrNW_004936694:2,436,755...2,441,802 		JBrowse link
G Rab11fip3 RAB11 family interacting protein 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:470,307...535,958
Ensembl chrNW_004936501:467,171...535,964 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,896,360...1,902,272
Ensembl chrNW_004936694:1,893,076...1,902,605 		JBrowse link
G Rab40c RAB40C, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:375,663...409,243
Ensembl chrNW_004936501:373,859...409,267 		JBrowse link
G Rgs11 regulator of G protein signaling 11 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:641,339...647,833
Ensembl chrNW_004936501:641,391...651,098 		JBrowse link
G Rhbdl1 rhomboid like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:332,838...335,057
Ensembl chrNW_004936501:332,512...335,276 		JBrowse link
G Rhot2 ras homolog family member T2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:336,506...341,671 JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,066,869...2,069,537 JBrowse link
G Rnps1 RNA binding protein with serine rich domain 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,784,396...1,794,269
Ensembl chrNW_004936694:1,784,480...1,793,481 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,756,069...4,761,484
Ensembl chrNW_004936530:4,753,751...4,761,695 		JBrowse link
G Rpl3l ribosomal protein L3 like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,078,903...2,086,333
Ensembl chrNW_004936694:2,078,903...2,086,354 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,071,295...2,073,409 JBrowse link
G Rpusd1 RNA pseudouridine synthase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:241,190...244,180
Ensembl chrNW_004936501:241,232...244,366 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,744,772...4,750,495
Ensembl chrNW_004936530:4,744,818...4,750,521 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:720,585...744,477
Ensembl chrNW_004936694:722,481...744,600 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,754,946...4,755,830
Ensembl chrNW_004936530:4,755,222...4,755,817 		JBrowse link
G Sox8 SRY-box transcription factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:128,386...132,648
Ensembl chrNW_004936501:127,703...132,704 		JBrowse link
G Spsb3 splA/ryanodine receptor domain and SOCS box containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,212,022...2,217,409
Ensembl chrNW_004936694:2,212,299...2,217,140 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:224,023...275,069 JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,280,104...1,296,301
Ensembl chrNW_004936694:1,280,155...1,295,779 		JBrowse link
G Sstr5 somatostatin receptor 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:60,812...63,149
Ensembl chrNW_004936501:62,031...63,122 		JBrowse link
G Stub1 STIP1 homology and U-box containing protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:328,767...330,963
Ensembl chrNW_004936501:326,451...330,983 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,043,646...2,047,897
Ensembl chrNW_004936694:2,043,657...2,047,883 		JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201 		JBrowse link
G Tbl3 transducin beta like 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,060,218...2,066,525
Ensembl chrNW_004936694:2,060,220...2,066,575 		JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,591,392...1,595,693
Ensembl chrNW_004936694:1,590,919...1,595,719 		JBrowse link
G Telo2 telomere maintenance 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,418,223...2,433,630
Ensembl chrNW_004936694:2,419,855...2,433,767 		JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:210,863...222,531
Ensembl chrNW_004936694:210,672...222,619 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,144,122...1,147,345
Ensembl chrNW_004936694:1,143,345...1,147,345 		JBrowse link
G Tigd7 tigger transposable element derived 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:938,233...943,347
Ensembl chrNW_004936694:941,533...943,182 		JBrowse link
G Tmem204 transmembrane protein 204 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,382,672...2,402,798
Ensembl chrNW_004936694:2,382,662...2,402,981 		JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,149,169...1,151,098
Ensembl chrNW_004936694:1,149,076...1,151,151 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,868,309...1,886,772 JBrowse link
G Trap1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:667,687...704,994
Ensembl chrNW_004936694:667,691...704,994 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,958,152...1,993,373
Ensembl chrNW_004936694:1,958,154...1,993,363 		JBrowse link
G Tsr3 TSR3 ribosome maturation factor ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,540,446...2,542,666
Ensembl chrNW_004936694:2,540,444...2,542,666 		JBrowse link
G Ubald1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936530:4,641,859...4,647,264
Ensembl chrNW_004936530:4,638,114...4,647,921 		JBrowse link
G Ube2i ubiquitin conjugating enzyme E2 I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,561,701...2,571,284
Ensembl chrNW_004936694:2,561,681...2,576,647 		JBrowse link
G Unkl unk like zinc finger ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936694:2,492,102...2,529,662
Ensembl chrNW_004936694:2,492,102...2,527,305 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:128,398...138,954
Ensembl chrNW_004936694:128,273...138,954 		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 chrNW_004936482:6,863,592...6,937,810
Ensembl chrNW_004936482:6,863,571...6,937,979 		JBrowse link
G Wdr24 WD repeat domain 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:321,877...326,984
Ensembl chrNW_004936501:321,924...327,253 		JBrowse link
G Wdr90 WD repeat domain 90 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:342,376...359,853
Ensembl chrNW_004936501:342,664...359,776 		JBrowse link
G Wfikkn1 WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chrNW_004936501:371,328...375,271
Ensembl chrNW_004936501:371,384...373,859 		JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532
G Znf174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:870,271...881,273
Ensembl chrNW_004936694:870,123...881,299 		JBrowse link
G Znf200 zinc finger protein 200 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:988,300...998,829
Ensembl chrNW_004936694:989,709...1,003,183 		JBrowse link
G Znf205 zinc finger protein 205 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,072,633...1,084,923
Ensembl chrNW_004936694:1,072,653...1,081,755 		JBrowse link
G Znf213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,054,433...1,060,659
Ensembl chrNW_004936694:1,055,346...1,058,878 		JBrowse link
G Znf263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:948,042...954,920
Ensembl chrNW_004936694:948,033...954,957 		JBrowse link
G Znf597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:849,369...854,290
Ensembl chrNW_004936694:849,681...856,887 		JBrowse link
G Znf598 zinc finger protein 598, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:2,019,714...2,035,885
Ensembl chrNW_004936694:2,023,806...2,036,864 		JBrowse link
G Znf75a zinc finger protein 75a ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:907,382...936,997 JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chrNW_004936694:1,100,190...1,107,114
Ensembl chrNW_004936694:1,100,190...1,107,010 		JBrowse link
Sorsby's fundus dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Sorsby fundus dystrophy | ClinVar Annotator: match by term: TIMP3-related condition ClinVar PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chrNW_004936492:6,836,441...7,253,867
Ensembl chrNW_004936492:6,876,684...7,253,375 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO ClinVar Annotator: match by term: Sorsby fundus dystrophy | ClinVar Annotator: match by term: TIMP3-related condition OMIM
ClinVar		 PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chrNW_004936492:6,996,627...7,046,137
Ensembl chrNW_004936492:6,996,613...7,046,190 		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 OMIM
ClinVar		 PMID:15326626 PMID:21412974 PMID:24387990 PMID:24387991 PMID:25741868 More... NCBI chrNW_004936784:884,751...938,901
Ensembl chrNW_004936784:884,751...938,282 		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 treatment
susceptibility 		ISO DNA:mutation:exon:c.2041C>T(human)
DNA:mutations:multiple:
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 		OMIM
RGD
ClinVar		 PMID:248200 PMID:2552515 PMID:2916264 PMID:2955595 PMID:2964157 More... RGD:7815045 RGD:7815046 RGD:7829716 NCBI chrNW_004936537:4,969,456...5,326,682
Ensembl chrNW_004936537:5,202,093...5,323,527 		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 chrNW_004936763:1,339,849...1,415,528
Ensembl chrNW_004936763:1,339,824...1,415,586 		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 chrNW_004936581:1,120,681...1,132,226
Ensembl chrNW_004936581:1,120,474...1,132,230 		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 chrNW_004936544:1,166,896...1,305,339
Ensembl chrNW_004936544:1,166,508...1,305,457 		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 chrNW_004936503:2,320,570...2,332,833
Ensembl chrNW_004936503:2,319,617...2,332,971 		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 chrNW_004936679:803,131...938,022
Ensembl chrNW_004936679:802,885...937,721 		JBrowse link
G LOC101961358 mitochondrial chaperone BCS1 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 chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708 		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 chrNW_004936642:2,745,889...2,833,286
Ensembl chrNW_004936642:2,801,908...2,832,830 		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 chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		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 chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus
ClinVar Annotator: match by term: Fundus flavimaculatus | 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: Stargardt disease 1 		ClinVar PMID:279751 PMID:3441139 PMID:4142662 PMID:7493155 PMID:7519821 More... NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chrNW_004936602:896,730...901,480
Ensembl chrNW_004936602:894,617...901,664 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:25741868 NCBI chrNW_004936675:2,527,406...2,564,464 JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25326637 PMID:28492532 NCBI chrNW_004936737:1,223,653...1,274,664
Ensembl chrNW_004936737:1,222,341...1,276,631 		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 chrNW_004936524:7,656,523...7,680,043
Ensembl chrNW_004936524:7,655,847...7,681,097 		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: Hallgren syndrome | 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 PMID:3258136 PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 More... NCBI chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chrNW_004936541:7,664,241...7,782,762
Ensembl chrNW_004936541:7,703,214...7,782,799 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chrNW_004936491:15,112,422...15,138,716
Ensembl chrNW_004936491:15,112,321...15,139,525 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,113,933...2,138,487
Ensembl chrNW_004936650:2,113,649...2,138,934 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936599:2,295,124...2,299,558
Ensembl chrNW_004936599:2,293,000...2,300,322 		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 chrNW_004936594:4,075,105...4,124,850
Ensembl chrNW_004936594:4,089,214...4,124,153 		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 chrNW_004936561:5,283,258...5,331,688
Ensembl chrNW_004936561:5,280,959...5,322,038 		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 chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		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 PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 More... NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chrNW_004936494:5,617,201...5,633,500
Ensembl chrNW_004936494:5,617,016...5,633,083 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149 		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 chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Dystrophia retinae pigmentosa-dysostosis 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 PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G CUNH1orf115 chromosome unknown C1orf115 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,575,098...1,586,515
Ensembl chrNW_004936650:1,575,083...1,586,548 		JBrowse link
G Dgkq diacylglycerol kinase theta ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chrNW_004936477:22,225,624...22,238,825
Ensembl chrNW_004936477:22,225,618...22,238,803 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:679,650...718,867
Ensembl chrNW_004936650:679,647...720,038 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,145,614...2,219,812
Ensembl chrNW_004936650:2,145,607...2,220,019 		JBrowse link
G Esrrg estrogen related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:1,635,161...2,058,198
Ensembl chrNW_004936628:1,830,881...2,058,269 		JBrowse link
G Gpatch2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:1,006,216...1,181,124
Ensembl chrNW_004936628:1,006,188...1,180,885 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chrNW_004936721:757,500...778,416
Ensembl chrNW_004936721:758,181...778,053 		JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:10,986...33,985
Ensembl chrNW_004936650:11,042...33,985 		JBrowse link
G Hlx H2.0 like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,416,825...1,422,595
Ensembl chrNW_004936650:1,416,812...1,422,588 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,056,921...2,112,487
Ensembl chrNW_004936650:2,056,921...2,112,767 		JBrowse link
G LOC101960714 cone-rod homeobox protein ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234 		JBrowse link
G LOC101969963 cadherin-23 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:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Lyplal1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,933,661...2,960,558
Ensembl chrNW_004936650:2,933,306...2,960,846 		JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,607,480...1,672,591
Ensembl chrNW_004936650:1,605,487...1,667,297 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,477,138...1,504,501
Ensembl chrNW_004936650:1,478,037...1,504,611 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,506,471...1,543,532
Ensembl chrNW_004936650:1,506,329...1,543,712 		JBrowse link
G Myo7a myosin VIIA 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: 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 		ClinVar PMID:2696932 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 More... NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936501:7,383,963...7,456,470
Ensembl chrNW_004936501:7,392,616...7,456,677 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936569:4,215,513...4,307,815
Ensembl chrNW_004936569:4,216,900...4,307,815 		JBrowse link
G Pcdh15 protocadherin related 15 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 		ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chrNW_004936504:5,018,171...5,088,333
Ensembl chrNW_004936504:5,018,064...5,092,024 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		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 chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,944,291...2,054,847
Ensembl chrNW_004936650:1,944,346...2,056,665 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:408,854...456,464
Ensembl chrNW_004936628:408,911...456,425 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:813,437...1,006,000 JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:7...6,758 JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007 		JBrowse link
G Ush1c USH1 protein network component harmonin treatment 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 		RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695937 NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12588794 PMID:22219650 PMID:24033266 PMID:25741868 PMID:27460420 More... NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		JBrowse link
G Ush2a usherin susceptibility 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 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:3526624 PMID:9536098 More... RGD:8547956 NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
G Whrn whirlin 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:11973626 PMID:12833159 PMID:15841483 PMID:21569298 PMID:22147658 More... NCBI chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238 		JBrowse link
G Zdhhc24 zDHHC palmitoyltransferase 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chrNW_004936599:3,047,011...3,054,512
Ensembl chrNW_004936599:3,047,011...3,054,498 		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 chrNW_004936469:8,653,031...9,209,840 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 chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		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 chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
G Ush1c USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1 		RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		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 chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety 		ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Myo7a myosin VIIA treatment ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
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 type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety 		ClinVar
RGD
OMIM		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694151 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Pcdh15 protocadherin related 15 ISO 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 type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety 		ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		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 ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		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 OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D 		ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		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 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		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 chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		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 chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		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 chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993 		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 chrNW_004936469:8,653,031...9,209,840 JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 PMID:32531858 NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		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 chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		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 (human)
DNA:insertion, deletions, snps:multiple (human)
DNA:snp:intron:c.7595-2144A>G (human) 		RGD
ClinVar		 PMID:2564938 PMID:10729113 PMID:10738000 PMID:10909849 PMID:11311042 More... RGD:8547952 RGD:8547962 RGD:8547965 RGD:8547985 NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		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 chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chrNW_004936628:2,862,536...2,912,784
Ensembl chrNW_004936628:2,862,617...2,912,790 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		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 OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107 		JBrowse link
G Ush2a usherin susceptibility ISO 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
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human) 		OMIM
ClinVar
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547961 RGD:8547987 NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		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 chrNW_004936469:8,653,031...9,209,840 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 chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107 		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 chrNW_004936531:5,513,082...5,546,515
Ensembl chrNW_004936531:5,513,082...5,548,501 		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 ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic OMIM
ClinVar		 PMID:3258136 PMID:3442652 PMID:9536098 PMID:10234513 PMID:14740321 More... NCBI chrNW_004936469:8,653,031...9,209,840 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 chrNW_004936474:10,697,777...10,706,988
Ensembl chrNW_004936474:10,699,819...10,706,591 		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 chrNW_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823 		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 OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:24498627 PMID:25741868 PMID:26416264 More... NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107 		JBrowse link
G Slc4a7 solute carrier family 4 member 7 ISO OMIM:605472 MouseDO NCBI chrNW_004936473:18,550,489...18,645,470
Ensembl chrNW_004936473:18,550,484...18,645,628 		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 chrNW_004936531:5,513,082...5,546,515
Ensembl chrNW_004936531:5,513,082...5,548,501 		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 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D OMIM
ClinVar		 PMID:9536098 PMID:12833159 PMID:15841483 PMID:16199547 PMID:17171570 More... NCBI chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238 		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 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		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 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
ClinVar		 PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376 		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 chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chrNW_004936531:9,607,678...9,610,245
Ensembl chrNW_004936531:9,607,906...9,609,965 		JBrowse link
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 chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chrNW_004936531:9,625,206...9,633,463
Ensembl chrNW_004936531:9,624,927...9,632,611 		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 chrNW_004936541:7,664,241...7,782,762
Ensembl chrNW_004936541:7,703,214...7,782,799 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 ClinVar PMID:25741868 PMID:28492532 PMID:33300174 PMID:35226187 PMID:36317447 NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		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 chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		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 chrNW_004936487:13,779,999...13,986,617
Ensembl chrNW_004936487:13,779,454...13,987,722 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: X-linked cone-rod dystrophy | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1 OMIM
ClinVar		 PMID:8673101 PMID:10480356 PMID:10482958 PMID:10932196 PMID:10937588 More... NCBI chrNW_004936502:5,163,164...5,212,940 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 OMIM
ClinVar		 PMID:9662399 PMID:11281458 PMID:15897456 PMID:16199547 PMID:17525176 More... NCBI chrNW_004936721:1,078,570...1,106,153
Ensembl chrNW_004936721:1,078,650...1,106,113 		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 OMIM
ClinVar		 PMID:1733835 PMID:8673101 PMID:10094550 PMID:14627685 PMID:16055928 More... NCBI chrNW_004936502:5,163,164...5,212,940 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    sensory system disease 6685
      eye disease 3446
        fundus dystrophy 743
          Bothnia retinal dystrophy 1
          Boucher-Neuhauser syndrome 2
          Ghose Sachdev Kumar Syndrome 0
          Myoectodermal Gonadal Dysgenesis Syndrome 4
          Pseudoinflammatory Fundus Dystrophy, Finnish Type 2
          RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 1
          RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 16
          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 2
          Retinal Dystrophy with or without Macular Staphyloma 1
          Retinal Dystrophy, Early Onset Severe + 16
          Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 2
          Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
          Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 1
          cone-rod dystrophy + 96
          dominant pericentral pigmentary retinopathy 0
          dystrophies primarily involving the retinal pigment epithelium + 5
          fundus albipunctatus 6
          hereditary retinal dystrophy + 4
          retinal dystrophies primarily involving Bruch's membrane 0
          retinal dystrophy in systemic or cerebroretinal lipidoses 0
          retinitis pigmentosa + 574
          vitreoretinal dystrophy 0
Path 2
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        Neurologic Manifestations 9431
          sensory system disease 6685
            eye disease 3446
              retinal disease 1349
                retinal degeneration 863
                  fundus dystrophy 743
                    Bothnia retinal dystrophy 1
                    Boucher-Neuhauser syndrome 2
                    Ghose Sachdev Kumar Syndrome 0
                    Myoectodermal Gonadal Dysgenesis Syndrome 4
                    Pseudoinflammatory Fundus Dystrophy, Finnish Type 2
                    RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT 1
                    RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 16
                    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 2
                    Retinal Dystrophy with or without Macular Staphyloma 1
                    Retinal Dystrophy, Early Onset Severe + 16
                    Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 2
                    Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome 2
                    Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome 1
                    cone-rod dystrophy + 96
                    dominant pericentral pigmentary retinopathy 0
                    dystrophies primarily involving the retinal pigment epithelium + 5
                    fundus albipunctatus 6
                    hereditary retinal dystrophy + 4
                    retinal dystrophies primarily involving Bruch's membrane 0
                    retinal dystrophy in systemic or cerebroretinal lipidoses 0
                    retinitis pigmentosa + 574
                    vitreoretinal dystrophy 0
paths to the root