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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:fundus dystrophy
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Accession:DOID:8501 term browser browse the term
Definition:A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Synonyms:exact_synonym: Retinal Dystrophy;   retinal dystrophies
 primary_id: MESH:D058499
 xref: NCI:C35625
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
fundus dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Retinal dystrophy 		ClinVar
RGD		 PMID:248200 PMID:2552515 PMID:2811866 PMID:2916264 PMID:2955595 More... RGD:7829713 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Abcc6 ATP binding cassette subfamily C member 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10835642 PMID:10835643 PMID:11536079 PMID:11702217 PMID:14631379 More... NCBI chr 1:105,583,681...105,637,895
Ensembl chr 1:96,447,251...96,501,464 		JBrowse link
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22938382 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr 3:139,659,315...139,719,529
Ensembl chr 3:139,659,317...139,719,564 		JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215 		JBrowse link
G Aco2 aconitase 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3248392 PMID:25351951 PMID:25741868 PMID:27528516 PMID:28492532 More... NCBI chr 7:113,385,677...113,428,794
Ensembl chr 7:113,385,646...113,428,261 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917 		JBrowse link
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32483926 NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781 		JBrowse link
G Adgra3 adhesion G protein-coupled receptor A3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:28714225 PMID:30718709 NCBI chr14:60,874,719...60,976,341
Ensembl chr14:60,874,715...60,976,332 		JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:3258136 PMID:3442652 PMID:3505517 PMID:16199547 More... NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:33523960 NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241 		JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		JBrowse link
G Agbl5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27842159 More... NCBI chr 6:25,472,333...25,492,173
Ensembl chr 6:25,472,333...25,490,738 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:15322546 PMID:16155189 PMID:16199547 PMID:16453322 More... NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041 		JBrowse link
G Ahr aryl hydrocarbon receptor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3257969 PMID:3442652 PMID:9536098 PMID:10615133 PMID:10873396 More... NCBI chr10:57,154,226...57,163,455
Ensembl chr10:56,655,693...56,664,922 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2440063 PMID:2871766 PMID:11941369 PMID:11941370 PMID:15689433 More... NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3286 PMID:20613862 PMID:25333062 PMID:25741868 PMID:26085577 More... NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511 		JBrowse link
G Arfgef1 ARF guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 5:8,982,061...9,076,326
Ensembl chr 5:8,981,540...9,076,326 		JBrowse link
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:25741868 PMID:28132693 PMID:28492532 NCBI chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081 		JBrowse link
G Arid5a AT-rich interaction domain 5A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chr 9:38,534,612...38,549,467
Ensembl chr 9:38,534,590...38,547,597 		JBrowse link
G Arl2bp ARF like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27790702 PMID:28041643 PMID:28492532 PMID:30210231 More... NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564 		JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:33748123 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
G Arl6 ARF like GTPase 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15258860 PMID:15314642 PMID:17160889 PMID:19236846 PMID:19858128 More... NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937 		JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941 		JBrowse link
G Asrgl1 asparaginase and isoaspartyl peptidase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 1:206,006,103...206,027,115
Ensembl chr 1:206,006,109...206,027,108 		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 chr 5:78,758,142...79,744,021
Ensembl chr 5:78,758,142...79,748,273 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30202406 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177 		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 chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:33528079 NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477 		JBrowse link
G Atxn7 ataxin 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr15:13,547,859...13,693,311
Ensembl chr15:11,118,886...11,263,106 		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 chr 1:211,614,195...211,633,504
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16582908 PMID:16823392 PMID:17980398 PMID:19190184 PMID:20080638 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17160889 PMID:20080638 PMID:20120035 PMID:20472660 PMID:20498079 More... NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255 		JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11285252 PMID:11567139 PMID:12016587 PMID:12677556 PMID:12837689 More... NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,909,619...10,944,993 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:11381270 PMID:12016587 PMID:16199547 PMID:17576681 More... NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607 		JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:15137946 PMID:16199547 PMID:16877420 PMID:17576681 More... NCBI chr 3:54,410,429...54,431,831
Ensembl chr 3:54,410,775...54,431,829 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12567324 PMID:16199547 PMID:19402160 PMID:20498079 PMID:21209035 More... NCBI chr 2:121,362,884...121,402,473
Ensembl chr 2:119,434,760...119,474,396 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:35886 PMID:16380913 PMID:20177705 PMID:21209035 PMID:24849935 More... NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930 		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 chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		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 chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G C3 complement C3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22594991 PMID:22673887 PMID:24036949 PMID:24036950 PMID:24036952 More... NCBI chr 9:2,174,412...2,201,339
Ensembl chr 9:2,087,437...2,114,429 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25307992 PMID:25741868 PMID:28041643 PMID:28341476 PMID:28492532 More... NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9529339 PMID:9536098 PMID:9662399 PMID:9662400 PMID:10900517 More... NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25132214 PMID:25741868 More... NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:152,408,657...152,521,268 		JBrowse link
G Capn5 calpain 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:24463507 PMID:25741868 PMID:28492532 NCBI chr 1:152,416,252...152,472,923
Ensembl chr 1:152,416,252...152,472,923 		JBrowse link
G Car4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17652713 PMID:19211803 PMID:20450258 PMID:28492532 PMID:30718709 More... NCBI chr10:70,325,102...70,333,916
Ensembl chr10:69,827,945...69,836,501 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:9536098 PMID:17576681 PMID:19466712 PMID:19777577 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
G Ccdc51 coiled-coil domain containing 51 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 8:109,722,595...109,741,478
Ensembl chr 8:109,722,557...109,741,472 		JBrowse link
G Cct2 chaperonin containing TCP1 subunit 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:52,692,725...52,705,478
Ensembl chr 7:52,692,725...52,706,944 		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 chr 7:1,325,108...1,340,447
Ensembl chr 7:1,325,103...1,399,178 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2706105 PMID:3442652 PMID:9536098 PMID:11138009 PMID:11857743 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		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 chr19:51,303,414...51,353,900
Ensembl chr19:34,393,727...34,444,084 		JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3511945 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20087419 More... NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,843,437...12,863,396 		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 chr  X:33,757,605...33,988,075
Ensembl chr  X:33,821,257...33,986,582 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:22863007 PMID:25741868 PMID:26546047 PMID:28125082 More... NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336 		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 chr 3:144,470,946...144,516,125
Ensembl chr 3:144,471,214...144,516,125 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3253185 PMID:3442652 PMID:16199547 PMID:16682970 PMID:16682973 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:16199547 PMID:24033266 PMID:25741868 PMID:27588451 More... NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:213,246,187...213,275,181 		JBrowse link
G Cerkl CERK like autophagy regulator ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:16199547 PMID:18978954 PMID:19501188 More... NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3203609 PMID:3253185 PMID:3258136 PMID:9536098 PMID:16199547 More... NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22177090 PMID:25113443 PMID:25515582 PMID:25741868 PMID:26355662 More... NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605 		JBrowse link
G Cfh complement factor H ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3418956 PMID:11158219 PMID:11170895 PMID:12424708 PMID:12697737 More... NCBI chr13:54,063,079...54,164,523
Ensembl chr13:51,511,828...51,613,838 		JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1044764 PMID:1598901 PMID:2381103 PMID:2552515 PMID:3646071 More... NCBI chr  X:78,203,200...78,361,996
Ensembl chr  X:78,203,204...78,361,943 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2911222 PMID:25741868 PMID:26173970 PMID:28492532 PMID:28663585 More... NCBI chr 8:54,930,265...54,947,157 JBrowse link
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16189710 PMID:25741868 PMID:28492532 PMID:30157172 NCBI chr 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7553855 PMID:9311735 PMID:9392580 PMID:9450775 PMID:9490299 More... NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434 		JBrowse link
G Cln5 CLN5, intracellular trafficking protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr15:79,893,573...79,903,438
Ensembl chr15:79,893,548...79,903,438
Ensembl chr 2:79,893,548...79,903,438 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 More... NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711 		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 chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065 		JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3158961 PMID:3196484 PMID:3625972 PMID:9662398 PMID:11536077 More... NCBI chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:3384701 PMID:3442652 PMID:3646071 PMID:15557452 More... NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1347967 PMID:2879551 PMID:3196484 PMID:3442652 PMID:9536098 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121 		JBrowse link
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15173235 PMID:19200525 PMID:19200527 PMID:23362848 PMID:25525159 More... NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:37079061 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		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 chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10706362 PMID:11007540 PMID:15895462 PMID:16199547 PMID:16752401 More... NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1427914 PMID:2552515 PMID:2953188 PMID:3105428 PMID:3196484 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2098109 PMID:9427255 PMID:9792858 PMID:9931337 PMID:10766140 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Cspp1 centrosome and spindle pole associated protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:13,860,072...13,975,299
Ensembl chr 5:9,077,161...9,193,377 		JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28041643 PMID:28492532 PMID:30515673 PMID:32051609 More... NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,728,485...26,860,910 		JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28285769 PMID:28492532 NCBI chr 2:35,764,674...35,975,908
Ensembl chr 2:35,764,686...35,975,872 		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 chr10:102,376,506...102,386,272
Ensembl chr10:101,877,676...101,887,442 		JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:15042513 PMID:15937078 PMID:16088246 PMID:16179904 More... NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29276052 PMID:31456290 PMID:37734845 NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454 		JBrowse link
G Dhx38 DEAH-box helicase 38 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr19:37,512,893...37,530,135
Ensembl chr19:37,512,891...37,530,140 		JBrowse link
G Dnajc30 DnaJ heat shock protein family (Hsp40) member C30 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:33465056 PMID:35091433 PMID:35148383 PMID:35861300 More... NCBI chr12:21,628,319...21,629,398
Ensembl chr12:21,626,450...21,629,408 		JBrowse link
G Dnm1l dynamin 1-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr11:98,084,049...98,135,663
Ensembl chr11:84,581,216...84,631,482 		JBrowse link
G Dram2 DNA damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:25741868 PMID:25983245 PMID:28492532 PMID:32483926 More... NCBI chr 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403 		JBrowse link
G Dthd1 death domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:46,670,438...46,673,183 JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:21211617 PMID:22499340 PMID:23339108 PMID:23456818 More... NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Dync2i2 dynein 2 intermediate chain 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:13,306,039...13,322,121
Ensembl chr 3:13,306,039...13,322,121 		JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:15785976 More... NCBI chr14:102,610,813...102,690,027
Ensembl chr14:102,610,908...102,690,018 		JBrowse link
G Elovl4 ELOVL fatty acid elongase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11138005 PMID:15028284 PMID:23509295 PMID:24833735 PMID:25741868 More... NCBI chr 8:93,582,930...93,609,479
Ensembl chr 8:84,702,362...84,729,697 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:26572623 PMID:26942288 PMID:28492532 PMID:29271071 More... NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30344259 PMID:30622556 More... NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575 		JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10507729 PMID:20705278 PMID:20705279 PMID:23591405 PMID:24651477 More... NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2965322 PMID:21576112 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:120,899,219...120,977,829
Ensembl chr 6:120,899,224...120,977,755 		JBrowse link
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr10:101,006,845...101,015,582
Ensembl chr10:100,507,865...100,516,658 		JBrowse link
G Fer1l5 fer-1-like family member 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chr 9:38,605,835...38,661,869
Ensembl chr 9:38,607,843...38,660,425 		JBrowse link
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:25741868 PMID:26257771 More... NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661 		JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr  X:130,375,925...130,423,836
Ensembl chr  X:130,377,227...130,423,771 		JBrowse link
G Fscn2 fascin actin-bundling protein 2, retinal ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 More... NCBI chr10:105,634,783...105,641,322
Ensembl chr10:105,634,783...105,641,322 		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 chr 1:216,052,037...216,054,325
Ensembl chr 1:206,627,103...206,725,424 		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 chr 1:143,279,934...143,288,799
Ensembl chr 1:143,280,065...143,285,724 		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 chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:18425797 PMID:19129173 PMID:23307924 PMID:23620759 PMID:24033266 More... NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567 		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 chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:34064 PMID:11095744 PMID:25741868 PMID:28492532 PMID:31736247 More... NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671 		JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12077706 PMID:25741868 PMID:27479814 PMID:28492532 PMID:31058429 More... NCBI chr 2:195,726,371...195,735,866
Ensembl chr 2:195,726,762...195,735,866 		JBrowse link
G Gnb3 G protein subunit beta 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27063057 PMID:28492532 PMID:31589614 PMID:31964843 More... NCBI chr 4:157,639,468...157,645,171
Ensembl chr 4:157,639,469...157,645,173 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3634453 PMID:15060128 PMID:19370764 PMID:20301784 PMID:24807205 More... NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096 		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 chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22325361 PMID:22325362 PMID:24033266 PMID:25741868 PMID:28041643 More... NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448 		JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9020843 PMID:9268593 PMID:22959359 PMID:25741868 PMID:26349155 More... NCBI chr16:76,122,501...76,135,792
Ensembl chr16:76,123,842...76,135,792 		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 chr10:35,167,985...35,182,717
Ensembl chr10:35,167,985...35,182,717 		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 chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565 		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 chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1512399 PMID:3636964 PMID:8554074 PMID:9618177 PMID:10676808 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2552515 PMID:9536098 PMID:16199547 PMID:17033958 PMID:17397050 More... NCBI chr16:72,807,967...72,840,180
Ensembl chr16:66,105,181...66,136,138 		JBrowse link
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25190649 PMID:25316723 PMID:25741868 PMID:26427411 PMID:28492532 More... NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Hmx1 H6 family homeobox 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:75,361,207...75,364,993
Ensembl chr14:75,361,225...75,364,993 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:63,867,882...63,887,223
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:117,481,845...117,486,982 		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 chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:24140113 PMID:25741868 PMID:26893459 More... NCBI chr 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Ift27 intraflagellar transport 27 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:111,619,145...111,635,129
Ensembl chr 7:109,738,622...109,754,416 		JBrowse link
G Ift74 intraflagellar transport 74 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:109,460,372...109,563,839
Ensembl chr 5:109,474,255...109,563,833 		JBrowse link
G Ift81 intraflagellar transport 81 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:25741868 PMID:26275418 PMID:27666822 PMID:28492532 NCBI chr12:33,957,744...34,037,164
Ensembl chr12:33,957,806...34,037,057 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:317257 PMID:9536098 PMID:11875049 PMID:11875050 PMID:14981049 More... NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:9536098 PMID:17576681 PMID:23993198 PMID:25741868 More... NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2487627 PMID:2855908 PMID:2864439 PMID:3253185 PMID:3357679 More... NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15786477 PMID:19668216 PMID:23034536 PMID:23386033 PMID:25741868 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		JBrowse link
G Invs inversin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24610927 PMID:25741868 PMID:28492532 NCBI chr 5:62,610,916...62,763,813
Ensembl chr 5:62,610,968...62,763,350 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093 		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 chr 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715 		JBrowse link
G Itpripl1 ITPRIP like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chr 3:134,858,316...134,861,241
Ensembl chr 3:114,402,270...114,414,497 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11180599 PMID:25741868 PMID:28492532 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:124,406,794...124,442,209 		JBrowse link
G Kansl3 KAT8 regulatory NSL complex subunit 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chr 9:38,562,170...38,605,757
Ensembl chr 9:38,562,177...38,605,692 		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 chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 PMID:19952985 More... NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
G Kiaa0586 KIAA0586 homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962 		JBrowse link
G Kiaa1549 KIAA1549 homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22284827 PMID:22653704 PMID:24281367 PMID:25124931 PMID:25741868 More... NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 3:162,218,621...162,258,191
Ensembl chr 3:141,758,466...141,797,963 		JBrowse link
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24680887 PMID:25741868 PMID:28492532 PMID:28837078 PMID:29057815 More... NCBI chr 3:154,730,873...154,838,410
Ensembl chr 3:134,277,687...134,385,190 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19520207 PMID:20547956 PMID:21828050 PMID:25741868 PMID:27392078 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507 		JBrowse link
G Lama1 laminin subunit alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:34547244 NCBI chr 9:115,139,548...115,263,620
Ensembl chr 9:107,692,770...107,817,478 		JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:8571951 PMID:12642313 PMID:16199547 PMID:17546029 More... NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956 		JBrowse link
G Lman2l lectin, mannose-binding 2-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chr 9:38,661,709...38,685,244
Ensembl chr 9:38,661,712...38,685,337 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3144818 PMID:21217109 PMID:22559933 PMID:24265693 PMID:25741868 More... NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619 		JBrowse link
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 2:218,337,215...218,360,318
Ensembl chr 2:218,337,819...218,357,307 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 PMID:28492532 NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:8832721 PMID:9831343 PMID:11719191 PMID:12579474 More... NCBI chr 1:210,243,499...210,346,886
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
G Lztfl1 leucine zipper transcription factor-like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 8:123,344,085...123,360,245
Ensembl chr 8:123,344,925...123,360,192 		JBrowse link
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3105428 PMID:16199547 PMID:21148103 PMID:21825139 PMID:21835304 More... NCBI chr17:23,889,417...23,936,857
Ensembl chr17:23,693,878...23,730,001 		JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 8:116,808,429...116,842,228
Ensembl chr 8:107,929,762...107,963,568 		JBrowse link
G Mcat malonyl-CoA-acyl carrier protein transacylase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 7:116,573,632...116,585,767
Ensembl chr 7:114,693,612...114,704,542 		JBrowse link
G Mcoln1 mucolipin TRP cation channel 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:32036093 PMID:36139381 PMID:38532569 NCBI chr12:6,357,851...6,372,151
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3055739 PMID:3196484 PMID:3253185 PMID:9536098 PMID:11062461 More... NCBI chr 3:136,391,936...136,498,366
Ensembl chr 3:115,939,351...116,046,554 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16762064 PMID:17576681 PMID:19889647 PMID:20350294 More... NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:158,304,287...158,335,342 		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 chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:19177532 PMID:21990111 PMID:25227500 PMID:25333361 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
G Mief1 mitochondrial elongation factor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:29177109 NCBI chr 7:113,666,918...113,679,550
Ensembl chr 7:111,786,709...111,802,220 		JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19896109 PMID:25741868 PMID:28726569 PMID:31427709 PMID:31645983 NCBI chr 1:117,777,539...117,777,644
Ensembl chr 1:117,777,539...117,777,644 		JBrowse link
G Mir361 microRNA 361 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8749050 PMID:18487380 PMID:19376587 PMID:25722215 PMID:25741868 More... NCBI chr  X:78,246,206...78,246,275
Ensembl chr  X:78,246,206...78,246,275 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:10802661 PMID:10973251 PMID:11567139 PMID:12107442 More... NCBI chr 3:124,201,877...124,221,142
Ensembl chr 3:124,201,877...124,220,162 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:9536098 PMID:17576681 PMID:18327255 PMID:23105016 More... NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mmachc metabolism of cobalamin associated C ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16311595 PMID:19370762 PMID:24210589 PMID:25398587 PMID:25741868 More... NCBI chr 5:130,166,056...130,172,735
Ensembl chr 5:130,166,451...130,172,601 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1346348 PMID:1352537 PMID:1417830 PMID:1734726 PMID:1763894 More... NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1463007 PMID:1634041 PMID:5511487 PMID:8470982 PMID:9012411 More... NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Mtpap mitochondrial poly(A) polymerase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr17:53,320,739...53,341,500
Ensembl chr17:53,320,741...53,341,538 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3158961 PMID:8386351 PMID:9334262 PMID:10369261 PMID:10369262 More... NCBI chr12:42,141,391...42,158,893
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Naaladl1 N-acetylated alpha-linked acidic dipeptidase-like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:31345219 NCBI chr 1:203,400,632...203,414,195
Ensembl chr 1:203,400,631...203,414,195 		JBrowse link
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:25741868 PMID:26073778 PMID:26541327 PMID:27789416 More... NCBI chr 6:36,048,357...36,353,206
Ensembl chr 6:36,048,191...36,352,984 		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 chr 3:134,825,271...134,852,502
Ensembl chr 3:114,371,941...114,399,180 		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 chr  X:8,379,569...8,404,019
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
G Nek2 NIMA-related kinase 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3667284 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32483926 NCBI chr13:103,405,818...103,419,063
Ensembl chr13:103,405,819...103,419,051 		JBrowse link
G Neurl3 neuralized E3 ubiquitin protein ligase 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27735924 NCBI chr 9:38,494,486...38,503,352
Ensembl chr 9:38,494,489...38,502,649 		JBrowse link
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 More... NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
G Nphp1 nephrocystin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2825423 PMID:8852662 PMID:9536098 PMID:10620543 PMID:10839884 More... NCBI chr 3:135,413,927...135,469,505
Ensembl chr 3:114,960,650...115,016,234 		JBrowse link
G Nphp3 nephrocystin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12205563 PMID:15776426 PMID:16199547 PMID:21068128 PMID:21546380 More... NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3032442 PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 More... NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163 		JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:9,776,179...9,785,924
Ensembl chr 2:8,040,377...8,050,123 		JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17335 PMID:11385710 PMID:11879142 PMID:15591106 PMID:15994872 More... NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832 		JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3098017 PMID:11062471 PMID:11062472 PMID:12552565 PMID:19578023 More... NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900 		JBrowse link
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1609808 PMID:1737786 PMID:2492100 PMID:3196484 PMID:3339136 More... NCBI chr 1:187,347,862...187,367,644
Ensembl chr 1:187,347,865...187,367,682 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16783569 PMID:18414213 PMID:18546297 PMID:25741868 PMID:26092869 More... NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9490303 PMID:9917792 PMID:11017079 PMID:11017080 PMID:11440988 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		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 chr 7:46,596,944...46,749,888
Ensembl chr 7:46,596,983...46,749,888 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:17541950 PMID:22715480 PMID:25741868 PMID:28492532 More... NCBI chr15:24,422,876...24,432,709
Ensembl chr15:21,943,191...21,953,416 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12510040 PMID:25741868 PMID:28492532 NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3077329 PMID:22213154 PMID:24676634 PMID:25741868 PMID:28041643 More... NCBI chr 1:243,616,509...243,697,454
Ensembl chr 1:243,616,606...243,695,321 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:312135 PMID:3196484 PMID:20398884 PMID:20398886 PMID:20811058 More... NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:14570705 PMID:16199547 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr11:81,818,914...81,862,623
Ensembl chr11:68,313,882...68,357,357 		JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:7493036 PMID:9536098 PMID:10393062 PMID:16199547 More... NCBI chr18:54,676,863...54,748,640
Ensembl chr18:54,676,863...54,748,816 		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 chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3182623 PMID:16199547 PMID:19615668 PMID:19887631 PMID:23776498 More... NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315 		JBrowse link
G Pde6g phosphodiesterase 6G ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:36819107 NCBI chr10:105,721,502...105,726,150
Ensembl chr10:105,721,682...105,726,719 		JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22901948 PMID:25741868 PMID:27472364 PMID:27479814 PMID:28492532 More... NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1301993 PMID:2063923 PMID:3196484 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16530715 PMID:19105186 PMID:19877282 PMID:21031596 PMID:25079577 More... NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:12325024 PMID:14974078 PMID:17576681 PMID:20301447 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748 		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 chr 9:33,063,855...33,136,013
Ensembl chr 9:33,063,857...33,135,994 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9326939 PMID:9326940 PMID:10767344 PMID:11555634 PMID:11948235 More... NCBI chr17:78,238,747...78,255,645
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8586428 PMID:17377520 PMID:20981092 PMID:22405330 PMID:22995991 More... NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584 		JBrowse link
G Plk4 polo-like kinase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 2:125,730,480...125,748,894
Ensembl chr 2:123,802,512...123,820,942 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2557489 PMID:3963113 PMID:8053762 PMID:16199547 PMID:18313024 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:25018096 PMID:25741868 PMID:28492532 PMID:29220607 More... NCBI chr 7:35,810,761...35,912,571
Ensembl chr 7:33,924,189...34,025,903 		JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25642776 PMID:25741868 PMID:28492532 PMID:34356048 PMID:34426522 NCBI chr 2:27,719,745...27,748,805
Ensembl chr 2:27,719,762...27,748,805 		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 chr 7:113,429,434...113,439,743
Ensembl chr 7:113,429,451...113,439,778 		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 chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		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 chr10:101,887,192...101,907,647 JBrowse link
G Prdm13 PR/SET domain 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9238090 PMID:9924305 PMID:25741868 PMID:26507665 PMID:27551809 More... NCBI chr 5:35,220,815...35,232,866
Ensembl chr 5:35,225,435...35,232,881 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3057632 PMID:3181667 PMID:3253185 PMID:3442652 PMID:9634506 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Pros1 protein S ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1547381 PMID:2143091 PMID:2526663 PMID:7579448 PMID:7803790 More... NCBI chr11:13,676,310...13,757,858
Ensembl chr11:230,696...311,286 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11773002 PMID:15085354 PMID:16799052 PMID:17517693 PMID:17932117 More... NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489 		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 chr 1:74,491,247...74,502,922
Ensembl chr 1:65,575,887...65,587,873 		JBrowse link
G Prpf4 pre-mRNA splicing tri-snRNP complex factor PRPF4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24419317 PMID:24959063 PMID:25741868 PMID:28492532 NCBI chr 5:75,859,934...75,873,924
Ensembl chr 5:75,859,924...75,873,919 		JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25356976 PMID:25741868 PMID:28492532 More... NCBI chr 3:189,084,465...189,148,705
Ensembl chr 3:168,704,299...168,774,991 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3646071 PMID:11468273 PMID:11910553 PMID:12714658 PMID:16799052 More... NCBI chr10:60,829,778...60,852,887
Ensembl chr10:60,331,494...60,354,606 		JBrowse link
G Prph2 peripherin 2 no_association ISO DNA:polymorphism:exon:p.E304Q,G338D(human)
ClinVar Annotator: match by term: Retinal dystrophy
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:279751 PMID:1427912 PMID:1684223 PMID:3441139 PMID:3646071 More... RGD:8553224 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3278127 PMID:24961627 PMID:25741868 PMID:28492532 PMID:28967191 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		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 chr 1:143,402,725...143,422,182
Ensembl chr 1:143,401,396...143,422,091 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23746546 PMID:25741868 PMID:28492532 NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967 		JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24728327 PMID:25741868 PMID:28492532 NCBI chr15:54,780,858...54,911,989
Ensembl chr15:48,371,296...48,502,302 		JBrowse link
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:9614228 PMID:17576681 PMID:19074801 PMID:21067480 More... NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006 		JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302 		JBrowse link
G Rd3 RD3 regulator of GUCY2D ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23308101 PMID:25741868 PMID:28492532 PMID:31964843 PMID:32083505 More... NCBI chr13:103,551,823...103,562,925
Ensembl chr13:103,552,857...103,562,622 		JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 6:97,979,377...97,995,252
Ensembl chr 6:97,979,378...97,995,252 		JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy 		CTD
ClinVar		 PMID:9536098 PMID:15258582 PMID:15322982 PMID:16199547 PMID:16269441 More... NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388 		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 chr 7:1,341,172...1,346,863
Ensembl chr 7:1,340,934...1,351,558 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:10,024,601...10,031,507
Ensembl chr 7:9,373,927...9,380,597 		JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10581022 PMID:22995991 PMID:24265693 PMID:25741868 PMID:27623334 More... NCBI chr16:12,801,594...12,816,402
Ensembl chr16:12,801,594...12,816,223 		JBrowse link
G Rgs9 regulator of G-protein signaling 9 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11262419 PMID:14702087 PMID:16199547 PMID:25741868 PMID:28492532 More... NCBI chr10:94,195,265...94,270,892
Ensembl chr10:94,197,054...94,270,892 		JBrowse link
G Rgs9bp regulator of G protein signaling 9 binding protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:31589614 PMID:34795310 NCBI chr 1:88,249,438...88,250,151
Ensembl chr 1:88,249,438...88,250,151 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1301135 PMID:1302614 PMID:1303237 PMID:1418997 PMID:1484692 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		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 chr 1:163,030,621...163,086,583
Ensembl chr 1:163,032,158...163,086,519 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9634506 PMID:12659814 PMID:18690027 PMID:23591405 PMID:25741868 More... NCBI chr 9:24,696,959...25,196,404
Ensembl chr 9:24,698,854...25,196,631 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2392416 PMID:10102298 PMID:10102299 PMID:11301032 PMID:11449319 More... NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		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 chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:7904211 PMID:8202715 PMID:8595413 PMID:9331261 More... NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175 		JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1783394 PMID:3196484 PMID:3253185 PMID:8931712 PMID:9536098 More... NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3158961 PMID:3253185 PMID:3442652 PMID:20826268 PMID:22277662 More... NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3091758 PMID:3642373 PMID:3646071 PMID:9536098 PMID:9697692 More... NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688 		JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3181667 PMID:12032732 PMID:23591405 PMID:25741868 PMID:28492532 NCBI chr 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy 		CTD
ClinVar		 PMID:2233437 PMID:3196484 PMID:9326927 PMID:9326941 PMID:9501220 More... NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy 		CTD
ClinVar		 PMID:288634 PMID:349855 PMID:2552515 PMID:3200084 PMID:3214136 More... NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy 		CTD
ClinVar		 PMID:2426569 PMID:3007274 PMID:3442652 PMID:9536098 PMID:11528500 More... NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:25741868 PMID:28492532 PMID:29343940 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		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 chr  X:33,962,440...33,992,203
Ensembl chr  X:33,963,657...33,992,115 		JBrowse link
G Rtn4ip1 reticulon 4 interacting protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32855858 NCBI chr20:47,382,251...47,422,747
Ensembl chr20:47,382,234...47,422,338 		JBrowse link
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7670478 PMID:9452120 PMID:9501883 PMID:9565049 PMID:15234147 More... NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:172,113,900...172,142,026
Ensembl chr 5:166,831,663...166,850,009 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 8:64,828,789...65,228,240
Ensembl chr 8:55,933,306...56,332,122 		JBrowse link
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065 		JBrowse link
G Sdccag8 SHH signaling and ciliogenesis regulator SDCCAG8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr13:88,754,521...88,979,363
Ensembl chr13:88,754,626...89,097,111 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:173,896,439...173,914,442 		JBrowse link
G Sema6b semaphorin 6B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 9:1,038,103...1,055,063
Ensembl chr 9:950,939...961,521 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 More... NCBI chr10:104,596,810...104,613,510
Ensembl chr10:104,598,112...104,613,486 		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 chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 More... NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001 		JBrowse link
G Slc25a46 solute carrier family 25, member 46 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:23,215,954...23,244,917
Ensembl chr18:23,215,962...23,244,314 		JBrowse link
G Slc4a7 solute carrier family 4 member 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr15:10,585,307...10,664,780
Ensembl chr15:10,588,979...10,664,781 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 4:125,752,340...125,826,033
Ensembl chr 4:124,195,218...124,268,875 		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 chr 2:112,065,286...112,171,319
Ensembl chr 2:112,065,286...112,171,313 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3342916 PMID:16612614 PMID:19878916 PMID:21618346 PMID:24302620 More... NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3646071 PMID:19268277 PMID:20104588 PMID:20301475 PMID:21310915 More... NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284 		JBrowse link
G Spp2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:89,006,858...89,026,676
Ensembl chr 9:89,007,175...89,026,688 		JBrowse link
G Ssbp1 single stranded DNA binding protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135 		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 chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790 		JBrowse link
G Tead1 TEA domain transcription factor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:166,791,900...167,010,591
Ensembl chr 1:166,792,628...167,003,369 		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 chr20:6,393,786...6,413,177
Ensembl chr20:6,392,053...6,411,446 		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 chr 1:65,587,633...65,597,407
Ensembl chr 1:65,582,359...65,611,689 		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 chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32483926 PMID:34448047 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754 		JBrowse link
G Tmem237 transmembrane protein 237 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:60,533,348...60,569,253
Ensembl chr 9:60,535,233...60,572,567 		JBrowse link
G Topors TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17924349 PMID:18509552 PMID:22581970 PMID:23950152 PMID:25741868 More... NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:55,387,632...55,399,937 		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 chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796 		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 chr 5:79,005,139...79,016,615
Ensembl chr 5:78,999,389...79,022,018 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3333257 PMID:24033266 PMID:25193871 PMID:25741868 PMID:26494905 More... NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3378126 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19896109 More... NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605 		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 chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:20159112 PMID:21334594 PMID:25741868 More... NCBI chr 4:50,313,768...50,389,246
Ensembl chr 4:50,313,772...50,389,246 		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 chr 3:50,861,367...50,935,880
Ensembl chr 3:50,861,367...50,935,903 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:16308660 PMID:16877420 PMID:17576681 More... NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:24791901 PMID:25741868 PMID:27162334 PMID:28173158 More... NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:7719340 PMID:8602747 PMID:9463307 PMID:9588854 More... NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073 		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 chr 1:163,008,198...163,030,958
Ensembl chr 1:162,951,931...163,026,812 		JBrowse link
G Tubgcp4 tubulin gamma complex component 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:108,141,081...108,172,207
Ensembl chr 3:108,141,625...108,169,437 		JBrowse link
G Tubgcp6 tubulin gamma complex component 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:31964843 NCBI chr 7:120,177,686...120,198,986
Ensembl chr 7:120,177,686...120,199,011 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2552515 PMID:3203739 PMID:8606774 PMID:9462750 PMID:9462751 More... NCBI chr20:6,412,170...6,424,103
Ensembl chr20:6,412,171...6,424,073 		JBrowse link
G Ubap1l ubiquitin associated protein 1-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 8:65,877,488...65,897,593
Ensembl chr 8:65,884,729...65,897,593 		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 chr 9:21,480,058...21,559,936
Ensembl chr 9:13,982,329...14,062,139 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 More... NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23591405 PMID:24033266 PMID:25741868 PMID:26878454 PMID:28492532 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:327072 PMID:1968399 PMID:2525289 PMID:2552515 PMID:2564938 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Usp45 ubiquitin specific peptidase 45 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:31345219 NCBI chr 5:35,318,621...35,392,090
Ensembl chr 5:35,318,635...35,389,420 		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 chr 2:20,761,718...20,860,637
Ensembl chr 2:20,761,718...20,860,637 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		JBrowse link
G Wdpcp WD repeat containing planar cell polarity effector ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:95,645,955...95,977,120
Ensembl chr14:95,646,038...95,977,113 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22019273 PMID:23559409 PMID:23683095 PMID:25741868 PMID:26275793 More... NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1161832 PMID:3126496 PMID:10679252 PMID:11161832 PMID:11244483 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3442652 PMID:20352026 PMID:22277662 PMID:24033266 PMID:25741868 More... NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:76,828,301...76,912,223 		JBrowse link
G Yme1l1 YME1-like 1 ATPase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr17:85,287,607...85,326,068
Ensembl chr17:85,287,554...85,326,335 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 More... NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880 		JBrowse link
G Zfp423 zinc finger protein 423 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30868567 NCBI chr19:19,111,213...19,407,373
Ensembl chr19:19,110,238...19,407,373 		JBrowse link
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:25,174,181...25,177,442
Ensembl chr 6:25,174,178...25,177,439 		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 chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480 		JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3196484 PMID:6897033 PMID:23716654 PMID:25741868 PMID:25882705 More... NCBI chr 3:77,615,595...77,621,325
Ensembl chr 3:77,616,808...77,621,055 		JBrowse link
G Znf454 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 chr10:35,183,729...35,200,450
Ensembl chr10:35,185,028...35,245,505 		JBrowse link
Alstrom syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alms1 ALMS1, centrosome and basal body associated protein susceptibility ISO
ISS 		DNA:frameshift mutations, nonsense mutations
ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome
OMIM:203800
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2440063 PMID:2871766 PMID:9063741 PMID:9409865 PMID:9536098 More... RGD:1601169, RGD:8696018, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,989,232...118,006,478
Ensembl chr 4:117,989,232...118,006,580 		JBrowse link
G Ctla4 cytotoxic T-lymphocyte-associated protein 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:26884280 PMID:27102614 PMID:27577878 PMID:28492532 More... NCBI chr 9:69,812,859...69,819,959
Ensembl chr 9:62,319,312...62,324,963 		JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,047,869...118,050,328
Ensembl chr 4:118,047,869...118,050,328 		JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,725,148...117,741,616
Ensembl chr 4:117,725,155...117,741,613 		JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:118,007,517...118,039,547
Ensembl chr 4:118,010,978...118,039,406 		JBrowse link
G Kcnh2 potassium voltage-gated channel subfamily H member 2 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29255176 PMID:31696929 NCBI chr 4:11,719,357...11,751,424
Ensembl chr 4:10,826,928...10,859,008 		JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,961,163...117,965,402
Ensembl chr 4:117,961,163...117,965,402 		JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,984,732...117,989,710
Ensembl chr 4:117,984,742...117,989,886 		JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,871,301...117,908,819
Ensembl chr 4:117,871,308...117,908,741 		JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,750,213...117,869,826
Ensembl chr 4:117,752,806...117,869,794 		JBrowse link
G Smyd5 SMYD family member 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:117,969,615...117,984,082
Ensembl chr 4:117,969,626...117,984,347 		JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 4:119,229,447...119,233,320
Ensembl chr 4:117,671,949...117,675,678 		JBrowse link
G Tango2 transport and golgi organization 2 homolog ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:82,645,978...82,692,574
Ensembl chr11:82,645,974...82,692,574 		JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942 		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 chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2133066 PMID:9536098 PMID:10737974 PMID:10788642 PMID:10798642 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		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 chr 1:216,052,037...216,054,325
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
Bothnia retinal dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rlbp1 retinaldehyde binding protein 1 ISO
ISS 		ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY
OMIM:607475
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2392416 PMID:9326942 PMID:10102298 PMID:10102299 PMID:11301032 More... NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		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 chr12:6,357,851...6,372,151
Ensembl chr12:1,560,359...1,574,252 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2557489 PMID:3963113 PMID:8053762 PMID:9321767 PMID:16199547 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
Cone Dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone dystrophy 4 | ClinVar Annotator: match by term: PDE6C-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3182623 PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 More... NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315 		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 chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942 		JBrowse link
cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy 		ClinVar PMID:2964157 PMID:3002862 PMID:9054934 PMID:9295268 PMID:9466990 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Acbd5 acyl-CoA binding domain containing 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 NCBI chr17:85,206,178...85,248,909
Ensembl chr17:85,206,303...85,248,215 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:19409519 PMID:25741868 PMID:28492532 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:15322546 PMID:16155189 PMID:16453322 PMID:25525159 PMID:25616960 More... NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:17594715 PMID:25741868 PMID:26047050 PMID:26077327 PMID:28492532 More... NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Arl6 ARF like GTPase 6 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:34828430 NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937 		JBrowse link
G Arsb arylsulfatase B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:10036316 PMID:14974081 PMID:16435196 PMID:17161971 PMID:17458871 More... NCBI chr 2:26,736,395...26,895,682
Ensembl chr 2:25,002,346...25,162,671 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 More... NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30576320 PMID:30718709 PMID:33668843 More... NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:152,408,657...152,521,268 		JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy 		ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23044944 PMID:23233793 More... NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,843,437...12,863,396 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:16909394 PMID:17345604 PMID:20690115 PMID:25741868 PMID:28492532 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 More... NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:213,246,187...213,275,181 		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 chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675 		JBrowse link
G Cfap20 cilia and flagella associated protein 20 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:35246562 NCBI chr19:9,608,867...9,622,558
Ensembl chr19:9,608,859...9,622,558 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:27596865 PMID:28492532 PMID:31456290 NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:25741868 NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434 		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 chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065 		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 chr 9:39,447,534...39,494,044
Ensembl chr 9:39,448,034...39,493,183 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO DNA:missense mutation:cds:p.C27F(c.80G¿¿¿>¿¿¿T)(human)
ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:32037395 PMID:32531858 PMID:36909829 More... RGD:13451130 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy 		ClinVar PMID:9390563 PMID:9427255 PMID:9792858 PMID:10874321 PMID:10916183 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Dram2 DNA damage regulated autophagy modulator 2 ISO
ISS 		ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36909829 NCBI chr 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403 		JBrowse link
G Fam161a FAM161 centrosomal protein A ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:20705278 PMID:20705279 PMID:24651477 PMID:25097241 PMID:25525159 More... NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphate transferase subunit gamma ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:15060128 PMID:19370764 PMID:20301784 PMID:25741868 PMID:28492532 NCBI chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096 		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 chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		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 chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:24352742 PMID:25741868 NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:10676808 PMID:11115851 PMID:11565546 PMID:12552567 PMID:15175914 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:34906470 NCBI chr15:35,685,678...35,786,875
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:19668216 PMID:23034536 PMID:23386033 PMID:23847139 PMID:25741868 More... NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450 		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 chr 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715 		JBrowse link
G Kiaa0586 KIAA0586 homolog ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr 6:89,622,711...89,725,951
Ensembl chr 6:89,623,699...89,725,962 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619 		JBrowse link
G Mc4r melanocortin 4 receptor ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:10903341 PMID:12499395 PMID:12690102 PMID:16507637 PMID:16611215 More... NCBI chr18:62,689,798...62,691,685
Ensembl chr18:60,419,832...60,421,719 		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 chr 2:125,749,994...125,784,689
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 3:138,963,227...138,963,312
Ensembl chr 3:118,510,194...118,510,279 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:10655056 PMID:15459973 PMID:16199547 PMID:18294254 PMID:19273793 More... NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:11479594 PMID:12510040 PMID:16023068 PMID:28492532 NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:20398886 PMID:24339724 PMID:25741868 PMID:26496393 PMID:28492532 More... NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:30718709 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:28492532 NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod dystrophy 		ClinVar PMID:25741868 PMID:28492532 NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:24355708 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 7:35,810,761...35,912,571
Ensembl chr 7:33,924,189...34,025,903 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:3181667 PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		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 PMID:3441139 PMID:7493155 PMID:8015786 PMID:8111389 PMID:8302543 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:23746546 PMID:25741868 PMID:28492532 PMID:36909829 NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967 		JBrowse link
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006 		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 chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:7981701 PMID:8088850 PMID:9380676 PMID:11139241 PMID:12871954 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar PMID:28492532 NCBI chr 9:24,696,959...25,196,404
Ensembl chr 9:24,698,854...25,196,631 		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 chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:32581362 NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone-rod degeneration ClinVar PMID:30718709 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:3007274 PMID:11528500 PMID:16272259 PMID:23105016 PMID:25741868 More... NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:28794130 NCBI chr 8:64,828,789...65,228,240
Ensembl chr 8:55,933,306...56,332,122 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:173,896,439...173,914,442 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:23847139 PMID:25741868 PMID:27735924 PMID:28492532 PMID:28559085 NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182 		JBrowse link
G Ssbp1 single stranded DNA binding protein 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:31298765 PMID:31550237 PMID:36909829 NCBI chr 4:69,266,024...69,276,135
Ensembl chr 4:69,266,102...69,276,135 		JBrowse link
G Tlcd3b TLC domain containing 3B ISS MouseDO NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743 		JBrowse link
G Trpm6 transient receptor potential cation channel, subfamily M, member 6 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:28041643 PMID:32581362 NCBI chr 1:216,136,407...216,320,523
Ensembl chr 1:216,170,038...216,320,520 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:16199547 PMID:24791901 PMID:25741868 PMID:27162334 PMID:28492532 More... NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934 		JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:11006213 PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:63,237,862...63,243,339
Ensembl chr10:63,237,903...63,243,339 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy 		ClinVar PMID:2564938 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		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 chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:173,896,439...173,914,442 		JBrowse link
cone-rod dystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 12 ClinVar PMID:25741868 NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,843,437...12,863,396 		JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 12 ClinVar PMID:25741868 PMID:31497877 NCBI chr16:18,958,695...18,970,026
Ensembl chr16:18,924,722...18,935,997 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 12
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3181667 PMID:3442652 PMID:9634506 PMID:10205271 PMID:12657606 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		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 chr15:24,905,789...24,965,461
Ensembl chr15:24,905,789...24,951,285 		JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:28492532 NCBI chr15:27,253,098...27,282,779
Ensembl chr15:24,779,450...24,809,183 		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 chr15:27,476,659...27,491,134
Ensembl chr15:25,003,172...25,014,041 		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 chr15:24,968,364...24,988,990
Ensembl chr15:24,968,803...24,989,113 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2426569 PMID:3007274 PMID:3442652 PMID:9536098 PMID:11283794 More... NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		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 chr15:25,021,345...25,038,918
Ensembl chr15:25,021,345...25,038,918 		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 chr15:24,867,697...24,904,818
Ensembl chr15:24,866,489...24,904,846 		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 chr15:24,989,246...25,002,833
Ensembl chr15:24,988,853...25,002,833 		JBrowse link
cone-rod dystrophy 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:152,408,657...152,521,268 		JBrowse link
G Cimip3 ciliary microtubule inner protein 3 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:25741868 NCBI chr 9:13,560,669...13,582,987
Ensembl chr 9:13,560,876...13,582,814 		JBrowse link
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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2552515 PMID:2635877 PMID:9425045 PMID:9425234 PMID:9651312 More... NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565 		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 chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:23885164 PMID:25741868 PMID:28492532 PMID:31180159 PMID:34426522 NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:17936999 PMID:23484092 PMID:25741868 PMID:28492532 PMID:30977563 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		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 chr16:12,863,696...12,883,579
Ensembl chr16:12,843,437...12,863,396 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 15 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
cone-rod dystrophy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap418 cilia and flagella associated protein 418 ISO
ISS 		ClinVar Annotator: match by term: 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:614500 		OMIM
ClinVar
MouseDO		 PMID:16199547 PMID:22177090 PMID:25515582 PMID:25741868 PMID:25802487 More... NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605 		JBrowse link
cone-rod dystrophy 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab28 RAB28, member RAS oncogene family ISO
ISS 		ClinVar Annotator: match by term: Cone-rod dystrophy 18
OMIM:615374 		OMIM
ClinVar
MouseDO		 PMID:23746546 PMID:23806086 PMID:24088041 PMID:25356532 PMID:25741868 More... NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967 		JBrowse link
cone-rod dystrophy 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 19 | ClinVar Annotator: match by term: TTLL5-related condition OMIM
ClinVar		 PMID:24791901 PMID:25741868 PMID:27162334 PMID:28173158 PMID:28492532 More... NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934 		JBrowse link
cone-rod dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar PMID:10615133 PMID:15249368 PMID:15347646 PMID:25741868 PMID:28492532 NCBI chr10:57,154,226...57,163,455
Ensembl chr10:56,655,693...56,664,922 		JBrowse link
G Crx cone-rod homeobox ISO
ISS 		ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2
OMIM:120970 		OMIM
ClinVar
MouseDO		 PMID:1583653 PMID:2098109 PMID:9390563 PMID:9427255 PMID:9792858 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 | ClinVar Annotator: match by term: Cone-rod retinal dystrophy 2 ClinVar PMID:10205271 PMID:17605048 PMID:19718270 PMID:24154662 PMID:25474345 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
cone-rod dystrophy 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 20 | ClinVar Annotator: match by term: POC1B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24945461 PMID:25018096 More... NCBI chr 7:35,810,761...35,912,571
Ensembl chr 7:33,924,189...34,025,903 		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 chr 2:194,035,624...194,064,415
Ensembl chr 2:194,035,818...194,063,403 		JBrowse link
cone-rod dystrophy 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1h16orf92 similar to human chromosome 16 open reading frame 92 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 22 ClinVar PMID:33077892 NCBI chr 1:181,434,524...181,441,000 JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 22 OMIM
ClinVar		 PMID:33077892 NCBI chr 1:181,421,104...181,439,744
Ensembl chr 1:181,422,830...181,439,743 		JBrowse link
cone-rod dystrophy 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Cone-rod dystrophy 24 OMIM
ClinVar		 PMID:11006213 PMID:25741868 PMID:26992781 PMID:28492532 PMID:35947183 NCBI chr10:63,237,862...63,243,339
Ensembl chr10:63,237,903...63,243,339 		JBrowse link
cone-rod dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO
ISS 		ClinVar Annotator: match by term: Cone-rod dystrophy 3
OMIM:604116
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:248200 PMID:2984763 PMID:3002862 PMID:3196484 PMID:3230744 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO Retinal atrophy - Cone-rod dystrophy 3 OMIA PMID:20691256 PMID:20806078 PMID:22065099 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Cone-rod dystrophy 3 ClinVar PMID:25741868 PMID:26261414 PMID:26306921 PMID:27032803 PMID:28492532 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		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 chr10:56,669,603...56,674,540
Ensembl chr10:56,669,675...56,674,791 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8586428 PMID:17377520 PMID:20981092 PMID:22405330 PMID:22995991 More... NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584 		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 chr10:54,361,898...54,373,776
Ensembl chr10:53,863,060...53,874,938 		JBrowse link
G Alox15b arachidonate 15-lipoxygenase, type B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:54,391,331...54,400,648
Ensembl chr10:53,892,466...53,901,812 		JBrowse link
G Aloxe3 arachidonate epidermal lipoxygenase 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:54,329,224...54,353,167
Ensembl chr10:53,831,264...53,854,328 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		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 chr10:54,022,523...54,047,793
Ensembl chr10:54,022,852...54,044,849 		JBrowse link
G Gucy2e guanylate cyclase 2E ISO
ISS 		ClinVar Annotator: match by term: Cone-rod dystrophy 6 | ClinVar Annotator: match by term: RETINAL CONE DYSTROPHY 2 | ClinVar Annotator: match by term: Retinal cone dystrophy 2
OMIM:601777
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3636964 PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 More... NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr10:53,824,124...53,828,934
Ensembl chr10:53,825,574...53,828,097 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:25741868 NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
cone-rod dystrophy 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 7 ClinVar PMID:9634506 PMID:12659814 PMID:18690027 PMID:23591405 PMID:25741868 More... NCBI chr 9:24,696,959...25,196,404
Ensembl chr 9:24,698,854...25,196,631 		JBrowse link
cone-rod dystrophy 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam9 ADAM metallopeptidase domain 9 ISO
ISS 		ClinVar Annotator: match by term: ADAM9-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy 9
OMIM:612775 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11581183 PMID:17576681 PMID:19409519 PMID:25091951 More... NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss ClinVar PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 More... NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:213,246,187...213,275,181 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: CEP78-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 OMIM
ClinVar		 PMID:3196484 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:213,246,187...213,275,181 		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 chr 3:144,470,946...144,516,125
Ensembl chr 3:144,471,214...144,516,125 		JBrowse link
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rims2 regulating synaptic membrane exocytosis 2 ISO ClinVar Annotator: match by term: Cone-rod synaptic disorder syndrome, congenital nonprogressive OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32470375 NCBI chr 7:70,248,104...70,759,134
Ensembl chr 7:70,243,872...70,757,491 		JBrowse link
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9536098 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15211651 More... NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		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 chr 7:1,325,108...1,340,447
Ensembl chr 7:1,325,103...1,399,178 		JBrowse link
G Mfrp membrane frizzled-related protein ISS OMIM:136880 MouseDO NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant
CTD Direct Evidence: marker/mechanism
DNA:deletion:cds: 		OMIM
ClinVar
CTD
RGD		 PMID:3441139 PMID:3646071 PMID:8111389 PMID:8485575 PMID:8485576 More... RGD:8553223 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:302784 PMID:2336278 PMID:10369264 PMID:10617778 PMID:11053295 More... NCBI chr 7:1,341,172...1,346,863
Ensembl chr 7:1,340,934...1,351,558 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1418997 PMID:1484692 PMID:1833777 PMID:1862076 PMID:1882937 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Fundus albipunctatus | ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens
ClinVar Annotator: match by term: Pigmentary retinal dystrophy | ClinVar Annotator: match by term: Retinitis punctata albescens | ClinVar Annotator: match by term: Retinitis punctata albescens, autosomal dominant
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2392416 PMID:9326942 PMID:9536098 PMID:10102298 PMID:10102299 More... NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		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 chr  X:70,444,615...70,467,780
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA | ClinVar Annotator: match by term: SCAPER-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28794130 PMID:32214227 NCBI chr 8:64,828,789...65,228,240
Ensembl chr 8:55,933,306...56,332,122 		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 chr 8:53,508,005...53,525,314
Ensembl chr 8:44,611,187...44,626,881 		JBrowse link
G Apoa1 apolipoprotein A1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:55,423,945...55,425,729
Ensembl chr 8:46,527,144...46,529,035 		JBrowse link
G Apoa4 apolipoprotein A4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469 		JBrowse link
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,531,478...46,533,658
Ensembl chr 8:46,531,478...46,533,583 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,057,617...45,082,224
Ensembl chr 8:45,057,619...45,082,247 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:43,350,070...43,475,404
Ensembl chr 8:43,353,799...43,476,366 		JBrowse link
G Atp5mg ATP synthase membrane subunit G ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:54,122,457...54,130,407
Ensembl chr 8:45,225,686...45,233,559 		JBrowse link
G Bace1 beta-secretase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,142,060...46,166,268
Ensembl chr 8:46,142,116...46,165,876 		JBrowse link
G Bcl9l BCL9 like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,811,977...44,840,611
Ensembl chr 8:44,811,977...44,840,611 		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 chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G C2cd2l C2CD2-like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,648,074...44,658,856
Ensembl chr 8:44,648,079...44,658,340 		JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:53,384,656...53,468,067
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:54,184,573...54,190,112
Ensembl chr 8:45,288,749...45,301,809 		JBrowse link
G Cd3e CD3 epsilon subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:54,200,617...54,211,770
Ensembl chr 8:45,303,852...45,315,022 		JBrowse link
G Cd3g CD3 gamma subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:54,177,572...54,184,087
Ensembl chr 8:45,281,204...45,287,147 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:53,632,777...53,639,661
Ensembl chr 8:44,735,972...44,742,837 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,070,901...46,134,511
Ensembl chr 8:46,071,076...46,134,336 		JBrowse link
G Cxcr5 C-X-C motif chemokine receptor 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:53,738,878...53,756,813
Ensembl chr 8:44,843,413...44,857,893 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,931,127...44,967,773
Ensembl chr 8:44,931,974...44,964,405
Ensembl chr 8:44,931,974...44,964,405 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,664,055...44,671,102
Ensembl chr 8:44,664,071...44,671,087 		JBrowse link
G Drc12 dynein regulatory complex subunit 12 homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,576,528...44,584,345
Ensembl chr 8:44,577,836...44,584,338 		JBrowse link
G Dscaml1 DS cell adhesion molecule-like 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,740,298...46,057,322
Ensembl chr 8:45,740,298...46,057,320 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,760,587...44,768,696
Ensembl chr 8:44,760,948...44,768,880 		JBrowse link
G Fxyd2 FXYD domain-containing ion transport regulator 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:54,609,658...54,616,788
Ensembl chr 8:45,712,903...45,720,203 		JBrowse link
G Fxyd6 FXYD domain-containing ion transport regulator 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,679,054...45,705,958
Ensembl chr 8:45,678,885...45,705,958 		JBrowse link
G Grik4 glutamate ionotropic receptor kainate type subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:42,903,043...43,331,990
Ensembl chr 8:42,905,056...43,193,751 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:53,568,718...53,570,072
Ensembl chr 8:44,671,786...44,673,239
Ensembl chr 4:44,671,786...44,673,239 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,634,333...44,644,288
Ensembl chr 8:44,634,333...44,641,000 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,673,554...44,680,950
Ensembl chr 8:44,673,554...44,680,957 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,706,073...44,718,189
Ensembl chr 8:44,706,263...44,718,186 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,081,593...45,104,052
Ensembl chr 8:45,087,440...45,104,052 		JBrowse link
G Il10ra interleukin 10 receptor subunit alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:54,459,754...54,474,786
Ensembl chr 8:45,563,137...45,578,061 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,384,836...45,415,459
Ensembl chr 8:45,383,495...45,416,565 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,479,391...44,487,575
Ensembl chr 8:44,479,376...44,487,571 		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
DNA:deletion,nonsense mutation:exons:p.N167TfsX25,p.Y317X(human) 		OMIM
ClinVar
RGD		 PMID:1258954 PMID:3196484 PMID:9536098 PMID:12140190 PMID:15976030 More... RGD:11553925 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:54,244,920...54,256,064
Ensembl chr 8:45,348,285...45,359,298 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,360,475...45,380,662
Ensembl chr 8:45,349,054...45,380,662 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:44,101,776...44,189,787 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,584,390...44,588,838
Ensembl chr 8:44,584,390...44,588,860 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,588,476...44,606,678
Ensembl chr 8:44,590,048...44,606,484 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:43,594,362...43,612,334
Ensembl chr 8:43,594,363...43,612,334 		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 chr 8:46,260,069...46,312,073
Ensembl chr 8:46,261,064...46,279,833 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705 		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 chr 8:45,003,543...45,051,541
Ensembl chr 8:45,003,538...45,051,522 		JBrowse link
G Pou2f3 POU class 2 homeobox 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:43,495,408...43,577,795
Ensembl chr 8:43,495,527...43,577,795 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,166,269...46,202,048
Ensembl chr 8:46,166,598...46,201,576 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,454,551...44,456,745
Ensembl chr 8:44,454,292...44,457,331 		JBrowse link
G Rps25 ribosomal protein s25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,733,623...44,735,999
Ensembl chr 8:44,733,029...44,737,271
Ensembl chr 8:44,733,029...44,737,271 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:42,629,649...42,641,257
Ensembl chr 8:42,632,672...42,641,273 		JBrowse link
G Scn2b sodium voltage-gated channel beta subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,425,629...45,437,765
Ensembl chr 8:45,425,629...45,437,765 		JBrowse link
G Scn4b sodium voltage-gated channel beta subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,446,580...45,462,294
Ensembl chr 8:45,446,215...45,462,292 		JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,232,379...46,248,913
Ensembl chr 8:46,232,383...46,248,700 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,312,253...46,522,444
Ensembl chr 8:46,311,989...46,522,444 		JBrowse link
G Slc37a4 solute carrier family 37 member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,723,216...44,729,301
Ensembl chr 8:44,723,339...44,729,301 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:51,238,713...51,401,458
Ensembl chr 8:42,341,704...42,504,513 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:46,224,939...46,230,413
Ensembl chr 8:46,222,472...46,230,668 		JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:42,795,648...42,854,552
Ensembl chr 8:42,796,730...42,854,552 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707 		JBrowse link
G Thy1 Thy-1 cell surface antigen ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,389,495...44,394,688
Ensembl chr 8:44,389,513...44,394,659 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,107,116...45,112,657
Ensembl chr 8:45,107,121...45,116,389 		JBrowse link
G Tmprss13 transmembrane serine protease 13 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,625,759...45,653,943
Ensembl chr 8:45,625,626...45,653,938 		JBrowse link
G Tmprss4 transmembrane serine protease 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,475,819...45,508,409
Ensembl chr 8:45,476,053...45,508,409 		JBrowse link
G Trappc4 trafficking protein particle complex subunit 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,729,458...44,733,285
Ensembl chr 8:44,725,331...44,733,491 		JBrowse link
G Treh trehalase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,990,182...45,003,881
Ensembl chr 8:44,990,182...45,003,540 		JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:43,682,221...43,706,992
Ensembl chr 8:43,682,221...43,706,992 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,112,737...45,116,345 JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:45,236,022...45,278,129
Ensembl chr 8:45,236,026...45,278,038 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,779,198...44,781,190
Ensembl chr 8:44,779,198...44,781,190 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 8:44,411,457...44,439,668
Ensembl chr 8:44,411,607...44,438,331 		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 chr 8:44,684,129...44,698,568
Ensembl chr 8:44,684,127...44,698,568 		JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: CNNM4-related condition | ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942 		JBrowse link
Kearns-Sayre syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1a interleukin 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 3:137,030,200...137,036,581
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO RGD PMID:23406886 RGD:7241824 NCBI chr14:63,073,505...63,729,215
Ensembl chr14:58,861,144...59,512,656 		JBrowse link
G Tfam transcription factor A, mitochondrial ISS OMIM:530000 MouseDO NCBI chr20:17,355,373...17,367,422
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
Leber congenital amaurosis 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 14 ClinVar PMID:9973280 PMID:10958761 PMID:16546111 PMID:22589445 PMID:23755871 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO
ISS 		ClinVar Annotator: match by term: LRAT-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar Annotator: match by term: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED
OMIM:613341
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:11381255 PMID:17011878 PMID:18055821 PMID:22025579 PMID:22559933 More... NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619 		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 chr 6:118,046,655...118,175,831
Ensembl chr 6:118,046,655...118,175,831 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 6:117,452,888...117,522,281
Ensembl chr 6:117,452,895...117,515,830 		JBrowse link
G Gpr65 G-protein coupled receptor 65 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 6:117,515,786...117,536,514
Ensembl chr 6:117,515,648...117,536,512 		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 chr 6:117,690,052...117,826,120
Ensembl chr 6:117,694,222...117,825,695 		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 chr 6:117,933,066...117,998,095
Ensembl chr 6:117,933,066...117,998,095 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO
ISS 		ClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onset | ClinVar Annotator: match by term: SPATA7-related disorder
OMIM:604232
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 More... NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418 		JBrowse link
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr 6:118,006,420...118,044,480
Ensembl chr 6:118,006,458...118,044,105 		JBrowse link
Macular Dystrophy with Central Cone Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Macular dystrophy with central cone involvement OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17564970 PMID:17576681 PMID:19177532 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
Metaphyseal Chondrodysplasia with Retinitis Pigmentosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cwc27 CWC27 spliceosome associated cyclophilin ISO ClinVar Annotator: match by term: CWC27-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10420199 PMID:16199547 PMID:17576681 PMID:25741868 More... NCBI chr 2:35,764,674...35,975,908
Ensembl chr 2:35,764,686...35,975,872 		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 chr 1:212,863,422...212,875,425
Ensembl chr 1:203,434,129...203,446,119 		JBrowse link
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder OMIM
ClinVar		 PMID:9536098 PMID:9934988 PMID:16199547 PMID:17576681 PMID:23636107 More... NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887 		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: MYOECTODERMAL GONADAL DYSGENESIS SYNDROME ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		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 chr 6:78,382,849...78,406,037
Ensembl chr 6:72,647,025...72,672,491 		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 chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416 		JBrowse link
G Slc35a2 solute carrier family 35 member A2 ISO ClinVar Annotator: match by term: 46,XY agonadism with mental retardation, short stature, retarded bone age, and multiple extragenital malformations ClinVar PMID:25741868 PMID:34161696 NCBI chr  X:17,280,072...17,288,928
Ensembl chr  X:14,608,055...14,616,678 		JBrowse link
NARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO DNA:missense mutation:cds:m.8993T>G, p.L156R (human)
ClinVar Annotator: match by term: NARP syndrome | ClinVar Annotator: match by term: Neuropathy ataxia retinitis pigmentosa syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 More... RGD:13825442 NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Mt-atp8 mitochondrially encoded ATP synthase membrane subunit 8 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
NCBI chr MT:7,758...7,961
Ensembl chr MT:7,758...7,961 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689 		JBrowse link
G Mt-co3 mitochondrially encoded cytochrome c oxidase III ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Mt-nd2 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,904...4,942
Ensembl chr MT:3,904...4,942 		JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,160...11,537
Ensembl chr MT:10,160...11,537 		JBrowse link
G Mt-nd4l mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,870...10,166
Ensembl chr MT:9,870...10,166 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,736...13,565
Ensembl chr MT:11,736...13,565 		JBrowse link
Newfoundland cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rlbp1 retinaldehyde binding protein 1 ISO ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:2392416 PMID:9536098 PMID:10102298 PMID:10102299 PMID:11301032 More... NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
Oliver-McFarlane syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3963113 PMID:8053762 PMID:18313024 PMID:20603202 PMID:23733235 More... NCBI chr12:6,372,284...6,401,632
Ensembl chr12:1,560,363...1,603,734 		JBrowse link
patterned macular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26691986 NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,728,485...26,860,910 		JBrowse link
G Htra1 HtrA serine peptidase 1 susceptibility ISO DNA:snp:promoter:g.-625G>A (rs11200638) (human) RGD PMID:22893068 RGD:7394745 NCBI chr 1:185,497,815...185,547,380
Ensembl chr 1:185,497,735...185,547,379 		JBrowse link
G Mapkapk3 MAPK activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:116,808,429...116,842,228
Ensembl chr 8:107,929,762...107,963,568 		JBrowse link
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.Y141C(human)
ClinVar Annotator: match by term: Butterfly-shaped pigment dystrophy of the fovea
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.G167D(human)
DNA:mutation:splice junction:
DNA:deletion,insertion:cds: 		ClinVar
CTD
RGD		 PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7825692 More... RGD:8553221, RGD:8554864, RGD:8553238, RGD:8553236 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
patterned macular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO
ISS 		ClinVar Annotator: match by term: Patterned macular dystrophy 1
OMIM:169150 		OMIM
ClinVar
MouseDO		 PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7710395 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
patterned macular dystrophy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna1 catenin alpha 1 ISO
ISS 		ClinVar Annotator: match by term: CTNNA1-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 2
OMIM:608970 		OMIM
ClinVar
MouseDO		 PMID:5442145 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26691986 More... NCBI chr18:27,002,330...27,135,009
Ensembl chr18:26,728,485...26,860,910 		JBrowse link
patterned macular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapkapk3 MAPK activated protein kinase 3 ISO ClinVar Annotator: match by term: MAPKAPK3-related condition | ClinVar Annotator: match by term: Patterned macular dystrophy 3 OMIM
ClinVar		 PMID:25741868 PMID:26744326 PMID:28492532 NCBI chr 8:116,808,429...116,842,228
Ensembl chr 8:107,929,762...107,963,568 		JBrowse link
PHARC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO
ISS 		ClinVar Annotator: match by term: ABHD12-related condition | ClinVar Annotator: match by term: PHARC syndrome
OMIM:612674
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:20797687 PMID:23806086 PMID:24088041 More... NCBI chr 3:139,659,315...139,719,529
Ensembl chr 3:139,659,317...139,719,564 		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 chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790 		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 chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
Reticular Dystrophy of Retinal Pigment Epithelium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 IMP mRNA:increased expression:retinal pigmented epithelium (rat) RGD PMID:21266465 RGD:126925759 NCBI chr10:62,608,373...62,614,726
Ensembl chr10:62,608,383...62,614,726 		JBrowse link
G Cryba1Nuc1Dbsa crystallin, beta A1;Nuc1 mutant, Dbsa IMP RGD PMID:21266465 RGD:126925759
retinal cone dystrophy 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Retinal cone dystrophy 3A
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15629837 PMID:22901948 PMID:25741868 PMID:27472364 PMID:27479814 More... NCBI chr 4:169,857,793...169,872,969
Ensembl chr 4:169,857,812...169,872,969 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8333273 PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 More... NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
retinal cone dystrophy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: CACNA2D4-related condition | ClinVar Annotator: match by term: Retinal cone dystrophy 4
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17033974 PMID:17576681 PMID:24033266 More... NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:152,408,657...152,521,268 		JBrowse link
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir204 microRNA 204 ISO ClinVar Annotator: match by term: MIR204-related condition | ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract OMIM
ClinVar		 PMID:25741868 PMID:26056285 PMID:28492532 PMID:37321975 NCBI chr 1:220,316,931...220,317,040
Ensembl chr 1:220,316,931...220,317,040 		JBrowse link
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 chr 1:219,673,200...220,557,610
Ensembl chr 1:219,672,892...220,560,717 		JBrowse link
Retinal Dystrophy and Microvillus Inclusion Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx3 syntaxin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy and microvillus inclusion disease OMIM
ClinVar		 NCBI chr 1:217,940,697...218,114,865
Ensembl chr 1:208,639,115...208,685,805 		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 chr 1:163,030,621...163,086,583
Ensembl chr 1:163,032,158...163,086,519 		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 chr 1:163,008,198...163,030,958
Ensembl chr 1:162,951,931...163,026,812 		JBrowse link
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1c activin A receptor type 1C IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 3:42,815,490...42,892,423
Ensembl chr 3:42,822,610...42,892,327 		JBrowse link
G Asns asparagine synthetase (glutamine-hydrolyzing) IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 4:35,784,995...35,803,474
Ensembl chr 4:35,785,237...35,803,423 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 9:72,616,070...72,694,553
Ensembl chr 9:72,623,155...72,694,265 		JBrowse link
G Card9 caspase recruitment domain family, member 9 IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 3:9,171,814...9,180,310
Ensembl chr 3:9,171,815...9,180,237 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A IEP associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Crh corticotropin releasing hormone IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 2:104,059,184...104,061,048
Ensembl chr 2:102,143,055...102,144,919 		JBrowse link
G Fcgr1a Fc gamma receptor 1A IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 2:186,539,941...186,548,941
Ensembl chr 2:183,851,077...183,859,994 		JBrowse link
G Inhba inhibin subunit beta A IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr17:53,787,159...53,810,942
Ensembl chr17:49,095,920...49,108,982 		JBrowse link
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities OMIM
ClinVar		 PMID:24026677 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr15:48,545,998...48,568,904
Ensembl chr15:48,546,001...48,568,917 		JBrowse link
G Kcnh8 potassium voltage-gated channel subfamily H member 8 IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 9:5,506,044...5,945,828
Ensembl chr 9:5,506,044...5,945,828 		JBrowse link
G Lck LCK proto-oncogene, Src family tyrosine kinase IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 5:147,172,642...147,201,267
Ensembl chr 5:141,888,326...141,903,794 		JBrowse link
G Pf4 platelet factor 4 IEP associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr14:17,582,477...17,583,392
Ensembl chr14:17,298,308...17,299,365 		JBrowse link
G Phlda1 pleckstrin homology-like domain, family A, member 1 IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 7:48,853,690...48,855,894
Ensembl chr 7:46,967,409...46,969,861 		JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr13:52,147,717...52,259,810
Ensembl chr13:49,596,193...49,708,692 		JBrowse link
G Sh3rf1 SH3 domain containing ring finger 1 IEP associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr16:33,746,396...33,912,127
Ensembl chr16:28,735,440...28,901,644 		JBrowse link
G Tbx5 T-box transcription factor 5 IEP associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr12:42,342,926...42,399,723
Ensembl chr12:36,688,014...36,734,885 		JBrowse link
G Vdr vitamin D receptor IEP associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: RCBTB1-related condition | ClinVar Annotator: match by term: RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES | ClinVar Annotator: match by term: Retinal dystrophy with or without extraocular anomalies OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26908610 PMID:27486781 More... NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302 		JBrowse link
Retinal Dystrophy with or without Macular Staphyloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: CFAP410-related condition | ClinVar Annotator: match by term: Retinal dystrophy with or without macular staphyloma OMIM
ClinVar		 PMID:3203609 PMID:9536098 PMID:11702989 PMID:16199547 PMID:17576681 More... NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
Retinal Dystrophy, Early Onset Severe term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe ClinVar PMID:9973280 PMID:10958761 PMID:16546111 PMID:22589445 PMID:23755871 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe ClinVar PMID:17594715 PMID:18414213 PMID:22876109 PMID:25741868 PMID:25846608 More... NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:118,125,607...118,226,005 		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 chr 1:235,873,576...235,891,597
Ensembl chr 1:235,873,576...235,891,597 		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 chr 1:245,306,349...245,313,551
Ensembl chr 1:235,893,917...235,901,399 		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 chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		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 chr 6:97,979,377...97,995,252
Ensembl chr 6:97,979,378...97,995,252 		JBrowse link
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpk1 alpha-kinase 1 ISO ClinVar Annotator: match by term: ALPK1-related condition | ClinVar Annotator: match by term: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30967659 PMID:31053777 PMID:31939038 More... NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157 		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, 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: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:248200 PMID:2964157 PMID:3002862 PMID:3105428 PMID:8533764 More... RGD:1598552, RGD:8547535 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Acan aggrecan treatment ISO RGD PMID:25646031 RGD:11570529 NCBI chr 1:132,981,582...133,044,416
Ensembl chr 1:132,981,582...133,043,627 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:26261414 PMID:28492532 PMID:31456290 NCBI chr16:67,022,538...67,101,647
Ensembl chr16:67,022,655...67,100,917 		JBrowse link
G Adamts18 ADAM metallopeptidase with thrombospondin type 1 motif, 18 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:32483926 NCBI chr19:41,686,951...41,840,035
Ensembl chr19:41,688,617...41,839,781 		JBrowse link
G Adgra3 adhesion G protein-coupled receptor A3 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:23105016 PMID:25741868 PMID:26355662 PMID:28492532 PMID:30718709 NCBI chr14:60,874,719...60,976,341
Ensembl chr14:60,874,715...60,976,332 		JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16199547 PMID:18414213 PMID:19357117 PMID:22135276 PMID:22147658 More... NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:26662040 PMID:27655171 NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241 		JBrowse link
G Agbl5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:31725702 PMID:34906470 NCBI chr 6:25,472,333...25,492,173
Ensembl chr 6:25,472,333...25,490,738 		JBrowse link
G Agtpbp1 ATP/GTP binding carboxypeptidase 1 ISS MouseDO NCBI chr17:5,120,540...5,238,874
Ensembl chr17:5,120,609...5,238,869 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:15322546 PMID:16453322 PMID:17576681 PMID:21866095 More... NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041 		JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 treatment IEP protein:increased expression:nucleus: RGD PMID:23951212 RGD:10053563 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 treatment ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:3257969 PMID:3442652 PMID:10615133 PMID:10873396 PMID:11139241 More... RGD:8696011 NCBI chr10:57,154,226...57,163,455
Ensembl chr10:56,655,693...56,664,922 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:17594715 PMID:25706677 PMID:25741868 PMID:25846608 PMID:28492532 More... NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:118,125,607...118,226,005 		JBrowse link
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28492532 NCBI chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081 		JBrowse link
G Arl2bp ARF like GTPase 2 binding protein ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:23849777 PMID:25741868 PMID:27790702 PMID:31425546 PMID:36909829 NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564 		JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:33748123 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
G Arl6 ARF like GTPase 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		CTD
ClinVar		 PMID:15314642 PMID:17160889 PMID:19236846 PMID:19956407 PMID:20177705 More... NCBI chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937 		JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr13:82,927,579...83,106,381
Ensembl chr13:82,930,034...83,107,177 		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 chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013 		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 chr 1:211,614,195...211,633,504
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16582908 PMID:20120035 PMID:20498079 PMID:20805367 PMID:20876674 More... NCBI chr 7:46,751,028...46,754,132
Ensembl chr 7:46,750,993...46,754,141 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:17160889 PMID:20120035 PMID:20498079 PMID:20648243 PMID:21463199 More... NCBI chr 2:120,203,396...120,221,024
Ensembl chr 2:120,203,428...120,219,255 		JBrowse link
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:9536098 PMID:11285252 PMID:11567139 PMID:17576681 PMID:19402160 More... NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,909,619...10,944,993 		JBrowse link
G Bbs4 Bardet-Biedl syndrome 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:11381270 PMID:12016587 PMID:20177705 PMID:25741868 PMID:27894351 More... NCBI chr 8:59,731,912...59,765,408
Ensembl chr 8:59,731,912...59,765,607 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 2:121,362,884...121,402,473
Ensembl chr 2:119,434,760...119,474,396 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr 8:21,013,865...21,437,934
Ensembl chr 8:21,013,944...21,437,930 		JBrowse link
G Bcan brevican severity ISO RGD PMID:29150673 RGD:14392802 NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:9536098 PMID:10453731 PMID:10798642 PMID:10854112 PMID:11713080 More... RGD:8547535 NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 PMID:34906470 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:14,868,024...14,896,413 		JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 4:154,080,877...154,197,369
Ensembl chr 4:152,408,657...152,521,268 		JBrowse link
G Car4 carbonic anhydrase 4 susceptibility ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:7581389 PMID:9385361 PMID:9536098 PMID:15090652 PMID:15295099 More... RGD:1600730 NCBI chr10:70,325,102...70,333,916
Ensembl chr10:69,827,945...69,836,501 		JBrowse link
G Casp7 caspase 7 ISO RGD PMID:23470535 RGD:8548491 NCBI chr 1:265,442,647...265,481,938
Ensembl chr 1:255,437,172...255,476,729 		JBrowse link
G Cat catalase ISO RGD PMID:19293779 RGD:8158049 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccdc66 coiled-coil domain containing 66 ISS OMIM:268000 MouseDO NCBI chr16:2,662,125...2,694,031
Ensembl chr16:2,662,131...2,694,023 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 More... RGD:8547536 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:26306921 PMID:28492532 PMID:30718709 NCBI chr19:51,303,414...51,353,900
Ensembl chr19:34,393,727...34,444,084 		JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:17576681 PMID:20805371 PMID:23044944 PMID:23591405 More... NCBI chr16:12,863,696...12,883,579
Ensembl chr16:12,843,437...12,863,396 		JBrowse link
G Cep250 centrosomal protein 250 ISS MouseDO NCBI chr 3:144,470,946...144,516,125
Ensembl chr 3:144,471,214...144,516,125 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 More... NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392 		JBrowse link
G Cerkl CERK like autophagy regulator susceptibility ISO DNA:mutation:exon
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:9536098 PMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 More... RGD:1600829, RGD:1600829 NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:23105016 PMID:25741868 PMID:26167768 PMID:26974433 PMID:27596865 More... NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737 		JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		CTD
MouseDO
ClinVar		 PMID:22177090 PMID:25515582 PMID:25741868 PMID:25802487 PMID:26355662 More... NCBI chr 5:23,996,395...24,015,609
Ensembl chr 5:23,996,718...24,015,605 		JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9067750 PMID:10420196 PMID:19422966 PMID:23811034 PMID:25525159 More... NCBI chr  X:78,203,200...78,361,996
Ensembl chr  X:78,203,204...78,361,943 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:7553855 PMID:9004140 PMID:9311735 PMID:9392580 PMID:9536098 More... NCBI chr 1:181,156,071...181,169,458
Ensembl chr 1:181,156,073...181,167,434 		JBrowse link
G Clrn1 clarin 1 IAGP
ISO 		ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 More... RGD:634439, RGD:8547535 NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		JBrowse link
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:7479749 PMID:12362048 PMID:16199547 PMID:18310263 PMID:23462753 More... RGD:1300380, RGD:8547535 NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:3384701 PMID:3442652 PMID:9536098 PMID:11379879 PMID:15557452 More... RGD:734793, RGD:8547535 NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121 		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 chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942 		JBrowse link
G Cntf ciliary neurotrophic factor disease_progression IEP associated with lens injury RGD PMID:24558606 RGD:40818112 NCBI chr 1:219,312,512...219,314,535
Ensembl chr 1:209,887,854...209,889,877 		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 chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:33084234 NCBI chr 1:82,525,578...82,549,182
Ensembl chr 1:82,526,568...82,549,180 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 susceptibility ISO DNA:missense mutations
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic 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
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
CTD Direct Evidence: marker/mechanism
DNA:missense mutations, nonsense mutation:cds:multiple 		ClinVar
CTD
RGD		 PMID:3105428 PMID:9536098 PMID:10508521 PMID:11231775 PMID:11389483 More... RGD:1600966, RGD:8552697 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crb2 crumbs cell polarity complex component 2 ISO
ISS 		OMIM:268000 MouseDO
RGD		 PMID:24493795 RGD:8552786 NCBI chr 3:41,946,694...41,974,629
Ensembl chr 3:21,542,221...21,563,294 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: 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 Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:2098109 PMID:9427255 PMID:9792858 PMID:10766140 PMID:10916183 More... RGD:8547535 NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16141006 PMID:25741868 NCBI chr11:78,207,170...78,212,273
Ensembl chr11:78,207,170...78,212,273 		JBrowse link
G Cwc27 CWC27 spliceosome associated cyclophilin ISS MouseDO NCBI chr 2:35,764,674...35,975,908
Ensembl chr 2:35,764,686...35,975,872 		JBrowse link
G Cygb cytoglobin ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:9536098 PMID:16199547 PMID:16938425 PMID:17576681 PMID:20507925 More... NCBI chr10:102,376,506...102,386,272
Ensembl chr10:101,877,676...101,887,442 		JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24480711 PMID:25741868 PMID:28041643 PMID:28051075 PMID:28492532 More... NCBI chr16:46,917,929...46,958,735
Ensembl chr16:46,918,401...46,943,395 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit 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:21295282 PMID:21295283 PMID:22110072 PMID:23590195 PMID:24033266 More... NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454 		JBrowse link
G Dhx38 DEAH-box helicase 38 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa 		CTD
ClinVar		 PMID:25741868 PMID:30208423 NCBI chr19:37,512,893...37,530,135
Ensembl chr19:37,512,891...37,530,140 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:23456818 PMID:28492532 PMID:32753734 PMID:34321860 PMID:35893076 NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:20005906 RGD:8661800 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa 		ClinVar PMID:23105016 PMID:25741868 PMID:28492532 NCBI chr 5:151,608,557...151,633,888
Ensembl chr 5:151,608,568...151,633,888 		JBrowse link
G Eml3 EMAP like 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr 1:205,826,354...205,837,790
Ensembl chr 1:205,817,378...205,837,807 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor ISS
ISO 		ClinVar Annotator: match by term: Syndromic retinitis pigmentosa MouseDO
ClinVar		 NCBI chr18:71,403,990...71,502,079
Ensembl chr18:71,404,010...71,501,502 		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 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:10507729 PMID:20705278 PMID:20705279 PMID:23167750 PMID:23591405 More... NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 treatment IDA RGD PMID:11319911 RGD:12801430 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Flvcr1 FLVCR choline and heme transporter 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:25741868 PMID:26467025 More... NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661 		JBrowse link
G Fscn2 fascin actin-bundling protein 2, retinal ISO RGD PMID:11527955 RGD:1598962 NCBI chr10:105,634,783...105,641,322
Ensembl chr10:105,634,783...105,641,322 		JBrowse link
G Fth1 ferritin heavy chain 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 NCBI chr 1:216,052,037...216,054,325
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:26179960 PMID:27362913 PMID:28492532 NCBI chr 1:227,883,249...227,962,119
Ensembl chr 1:227,883,249...227,962,097 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 PMID:34906470 NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 More... NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 PMID:32483926 NCBI chr10:82,324,568...82,340,448
Ensembl chr10:82,337,771...82,340,448 		JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B IEP protein:decreased expression:outer plexiform layer of retina (rat) RGD PMID:11925013 RGD:13432034 NCBI chr 4:170,297,811...170,775,420
Ensembl chr 4:168,599,546...169,042,279 		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 chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565 		JBrowse link
G Guca1b guanylate cyclase activator 1B 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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:15452722 PMID:15505030 PMID:22025579 PMID:25741868 PMID:26161267 More... RGD:8547535 NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455 		JBrowse link
G Gucy2e guanylate cyclase 2E susceptibility ISO DNA:mutation:exon
ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:10676808 PMID:10951519 PMID:11115851 PMID:11328726 PMID:11565546 More... RGD:1599624 NCBI chr10:53,954,918...53,975,576
Ensembl chr10:53,959,010...53,974,067 		JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:vitreous humor: RGD PMID:20053975 RGD:8548602 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:17033958 PMID:19479962 PMID:19823584 PMID:20583299 PMID:25741868 More... NCBI chr16:72,807,967...72,840,180
Ensembl chr16:66,105,181...66,136,138 		JBrowse link
G Hk1 hexokinase 1 ISO DNA:mutation:cds:c.2539G>A,p.Glu847Lys(human)
ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:30778173 PMID:31785789 PMID:34448047 More... RGD:13673896 NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131 		JBrowse link
G Idh3a isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28058510 PMID:28412069 PMID:28492532 PMID:31456290 More... NCBI chr 8:63,867,882...63,887,223
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		CTD
ClinVar		 PMID:16199547 PMID:18806796 PMID:25741868 PMID:28492532 NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:3196484 PMID:16199547 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		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 chr 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr15:35,685,678...35,786,875
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO DNA:missense mutation: :p.D226N, p.V268I (human)
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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.R224P (human)
human gene in mouse model 		ClinVar
CTD
RGD		 PMID:11875050 PMID:14981049 PMID:16199547 PMID:16384941 PMID:20045992 More... RGD:1599608, RGD:5144221, RGD:5144134 NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16199547 PMID:23993198 PMID:25741868 PMID:28492532 PMID:32817297 More... NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:3253185 PMID:9536098 PMID:17576681 PMID:20673862 PMID:22277662 More... NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		JBrowse link
G Iqcb1 IQ motif containing B1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:22261762 PMID:22773737 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G Itga4 integrin subunit alpha 4 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715 		JBrowse link
G Itprid2 ITPR interacting domain containing 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28041643 NCBI chr 3:64,536,707...64,573,978
Ensembl chr 3:64,536,707...64,573,978 		JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112 		JBrowse link
G Kiaa1549 KIAA1549 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar PMID:25741868 PMID:32214227 PMID:34906470 NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
G Kiz kizuna centrosomal protein ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24680887 PMID:25741868 PMID:28166811 PMID:28492532 PMID:28837078 More... NCBI chr 3:154,730,873...154,838,410
Ensembl chr 3:134,277,687...134,385,190 		JBrowse link
G Kl Klotho ISO
IEP 		protein:increased expression:retina,photoreceptor,nucleus: RGD PMID:23796581 PMID:23796581 RGD:10403060, RGD:10403060 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:490,399...530,080 		JBrowse link
G Klb klotho beta ISO protein:increased expression:outer nuclear layer: RGD PMID:23796581 RGD:10403060 NCBI chr14:42,899,050...42,950,788
Ensembl chr14:42,899,510...42,950,799 		JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:19520207 PMID:20547956 PMID:21828050 PMID:25741868 PMID:27160483 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541 		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 chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr19:11,609,004...12,057,174
Ensembl chr19:11,603,129...12,048,930 		JBrowse link
G Lca5 lebercilin LCA5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:17546029 PMID:23946133 PMID:24265693 PMID:25741868 PMID:28492532 More... NCBI chr 8:84,307,696...84,375,025
Ensembl chr 8:84,317,659...84,374,956 		JBrowse link
G Lrat lecithin retinol acyltransferase ISO early-onset severe retinal dystrophy, OMIM:604863
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:22025579 PMID:25324289 PMID:25741868 PMID:26355662 PMID:28492532 More... RGD:1599754, RGD:8547535 NCBI chr 2:168,264,093...168,273,155
Ensembl chr 2:168,266,877...168,273,619 		JBrowse link
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16199547 PMID:21148103 PMID:21825139 PMID:21835304 PMID:24938718 More... NCBI chr17:23,889,417...23,936,857
Ensembl chr17:23,693,878...23,730,001 		JBrowse link
G Mertk MER proto-oncogene, tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		CTD
ClinVar		 PMID:9536098 PMID:11062461 PMID:11592982 PMID:15111602 PMID:16199547 More... NCBI chr 3:136,391,936...136,498,366
Ensembl chr 3:115,939,351...116,046,554 		JBrowse link
G Mfrp membrane frizzled-related protein ISO DNA:deletio:exon:c.498delC(P.166PfsX26)(human) RGD PMID:22605927 RGD:11553921 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655 		JBrowse link
G Mt2 metallothionein 2 IEP
ISO 		mRNA:increased expression:retina (rat)
mRNA:increased expression:retina (mouse) 		RGD PMID:20357188 PMID:20357188 RGD:6483819, RGD:6483819 NCBI chr19:10,837,934...10,838,708
Ensembl chr19:10,832,002...10,832,784 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:8900236 PMID:10094549 PMID:19074810 PMID:24033266 PMID:25404053 More... RGD:8547536 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Neurod1 neuronal differentiation 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28041643 NCBI chr 3:64,359,554...64,363,526
Ensembl chr 3:64,359,395...64,363,649 		JBrowse link
G Ngf nerve growth factor IEP protein:decreased expression:lacrimal gland RGD PMID:20595895 RGD:4891133 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:34906470 NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:9536098 PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 More... NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163 		JBrowse link
G Nrl neural retina leucine zipper ISO DNA:missense mutation:cds:p.S50L (human)
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:10192380 PMID:12796249 PMID:15591106 PMID:17335001 PMID:23534816 More... RGD:1580991 NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832 		JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr  X:9,280,864...9,301,900
Ensembl chr  X:9,280,864...9,301,900 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO DNA, mRNA:frameshift mutation, splice variant:IVS9+706A>G (human) RGD PMID:22619378 RGD:11535961 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:33841295 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Or4f5 olfactory receptor family 4 subfamily F member 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 3:98,076,440...98,080,996
Ensembl chr 3:98,077,736...98,081,377 		JBrowse link
G P3h2 prolyl 3-hydroxylase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 PMID:31456290 NCBI chr11:74,634,267...74,775,422
Ensembl chr11:74,634,267...74,775,421 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:11479594 PMID:12510040 PMID:15659606 PMID:15834858 PMID:16272150 More... NCBI chr 3:138,936,448...138,974,196
Ensembl chr 3:118,483,444...118,518,320 		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, 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:3196484 PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 More... NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 More... RGD:8547536 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Pde6a phosphodiesterase 6A ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:3196484 PMID:7493036 PMID:10393062 PMID:16199547 PMID:17110911 More... RGD:8547535 NCBI chr18:54,676,863...54,748,640
Ensembl chr18:54,676,863...54,748,816 		JBrowse link
G Pde6b phosphodiesterase 6B ISO
ISS
IMP 		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
compared to wild-type
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
RGD		 PMID:3145629 PMID:3203739 PMID:3253185 PMID:7724547 PMID:8394174 More... RGD:8657407, RGD:40924664 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pde6bem1Baek phosphodiesterase 6B; Cpf1-CRISPR induced mutant1, Baek IMP compared to wild-type RGD PMID:31009522 RGD:40924664
G Pde6g phosphodiesterase 6G ISO
ISS 		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		MouseDO
ClinVar
CTD
RGD		 PMID:20655036 PMID:25741868 PMID:28492532 PMID:23701314 RGD:8547535 NCBI chr10:105,721,502...105,726,150
Ensembl chr10:105,721,682...105,726,719 		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 chr 9:33,063,855...33,136,013
Ensembl chr 9:33,063,857...33,135,994 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:1155634 PMID:9326939 PMID:9326940 PMID:9657395 PMID:10767344 More... NCBI chr17:78,238,747...78,255,645
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:8586428 PMID:17377520 PMID:20981092 PMID:22405330 PMID:22995991 More... NCBI chr10:56,674,697...56,766,552
Ensembl chr10:56,676,261...56,766,584 		JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar PMID:29272404 NCBI chr 2:27,719,745...27,748,805
Ensembl chr 2:27,719,762...27,748,805 		JBrowse link
G Ppt1 palmitoyl-protein thioesterase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9425237 PMID:9664077 PMID:10191107 PMID:10477428 PMID:10649502 More... NCBI chr 5:140,406,318...140,427,201
Ensembl chr 5:135,121,163...135,142,048 		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 chr10:101,887,192...101,907,647 JBrowse link
G Prkcg protein kinase C, gamma ISO RGD PMID:9545390 RGD:737791 NCBI chr 1:74,748,272...74,777,611
Ensembl chr 1:65,832,855...65,859,384 		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, 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 PMID:3442652 PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:11773002 PMID:15085354 PMID:17932117 PMID:20309403 PMID:20811066 More... RGD:1599535 NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489 		JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:3071870 PMID:3253185 PMID:16199547 PMID:16799052 PMID:18317597 More... RGD:8547535 NCBI chr 1:74,491,247...74,502,922
Ensembl chr 1:65,575,887...65,587,873 		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 chr 3:189,084,465...189,148,705
Ensembl chr 3:168,704,299...168,774,991 		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
RGD		 PMID:9536098 PMID:11468273 PMID:12714658 PMID:16799052 PMID:17576681 More... RGD:1599210, RGD:8547535 NCBI chr10:60,829,778...60,852,887
Ensembl chr10:60,331,494...60,354,606 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
DNA:mutation:cds:p.V200E(human)
DNA:mutation:cds:p.N244K(human)
DNA:polymorphism:cds:p.F211L(human)
DNA:polymprphism:cds:p.P216L(mouse)
DNA:deletion,missense mutations:cds:p.P216L,L185P(human)
DNA:polymorphism:exon:p.E304Q,G338D(human)
DNA:polymprphism: :p.P216L(human)
DNA:polymorphism:: c.389T>C (p.L130P)(human) 		ClinVar
RGD		 PMID:1427912 PMID:1684223 PMID:3441139 PMID:7493155 PMID:7754251 More... RGD:8547535, RGD:8554861, RGD:8554860, RGD:8553237, RGD:8553235, RGD:8553234, RGD:8553222, RGD:8553218, RGD:8553216, RGD:8553188 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO DNA:missense mutation:exon:p.S16P (human) RGD PMID:25491489 RGD:11056008 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
G Pten phosphatase and tensin homolog onset IEP mRNA:increased expression:retina (rat) RGD PMID:22432009 RGD:12802340 NCBI chr 1:240,043,707...240,110,330
Ensembl chr 1:230,630,338...230,696,838 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr14:69,245,846...69,322,968
Ensembl chr14:69,245,854...69,322,967 		JBrowse link
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9614228 PMID:19074801 PMID:21067480 PMID:23105016 PMID:23486466 More... RGD:8547535 NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006 		JBrowse link
G Rcbtb1 RCC1 and BTB domain containing protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:27486781 PMID:28492532 NCBI chr15:33,319,586...33,362,421
Ensembl chr15:33,319,586...33,365,302 		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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:15258582 PMID:15322982 PMID:16269441 PMID:16968212 PMID:17389517 More... RGD:8547535 NCBI chr 6:98,015,465...98,028,388
Ensembl chr 6:98,015,465...98,028,388 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 7:1,341,172...1,346,863
Ensembl chr 7:1,340,934...1,351,558 		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 chr 7:10,024,601...10,031,507
Ensembl chr 7:9,373,927...9,380,597 		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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:10581022 PMID:16199547 PMID:16968212 PMID:22995991 PMID:24265693 More... RGD:1599623 NCBI chr16:12,801,594...12,816,402
Ensembl chr16:12,801,594...12,816,223 		JBrowse link
G Rho rhodopsin treatment ISO DNA:point mutation:exon:P23H, P347L, P347S, T58R
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, 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 Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.C110Y (human)
DNA:missense mutations:cds:505G>C (p.A169P), 1040C>A (p.P347Q) (human)
DNA:missense mutation: :p.Y110C (mouse)
DNA:missense mutation:cds:c.448G>A (p.E150K) (human)
DNA:missense mutation: :p.T17M (human)
DNA:missense mutation:cds:c.233A>T (p.N78I) (human)
DNA:deletion:exon:c.614_622del (p.Y206_F208del) (human) 		ClinVar
CTD
RGD		 PMID:1301135 PMID:1303237 PMID:1484692 PMID:1580841 PMID:1765377 More... RGD:1601619, RGD:8548552, RGD:8548543, RGD:8548518, RGD:8548516, RGD:8548515, RGD:8548514, RGD:8548513, RGD:8548512, RGD:8548491, RGD:8548490, RGD:8547992, RGD:8547991, RGD:8547535 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:32483926 NCBI chr 9:24,696,959...25,196,404
Ensembl chr 9:24,698,854...25,196,631 		JBrowse link
G Ripk1 receptor interacting serine/threonine kinase 1 ISO RGD PMID:22908283 RGD:7777166 NCBI chr17:31,044,983...31,077,167
Ensembl chr17:30,839,650...30,871,824 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO RGD PMID:22908283 RGD:7777166 NCBI chr15:33,253,071...33,262,025
Ensembl chr15:29,283,145...29,292,121 		JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO bothnia dystrophy, OMIM:180090
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:2392416 PMID:9326942 PMID:9536098 PMID:10102298 PMID:10102299 More... RGD:1599618, RGD:8547535 NCBI chr 1:133,308,920...133,322,296
Ensembl chr 1:133,308,938...133,322,296 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO CTD Direct Evidence: marker/mechanism
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 		CTD
ClinVar		 PMID:3442652 PMID:7904211 PMID:8202715 PMID:8595413 PMID:9187681 More... NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175 		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
RGD		 PMID:3253185 PMID:9536098 PMID:10484783 PMID:10845615 PMID:11095597 More... RGD:8547535 NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:3158961 PMID:22277662 PMID:25324289 PMID:25741868 PMID:26355662 More... NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316 		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
RGD		 PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 PMID:10634633 More... RGD:1599605 NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688 		JBrowse link
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:1479605 PMID:3181667 PMID:12032732 PMID:15474994 PMID:15541726 More... NCBI chr 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175 		JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 treatment ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.D477G (human) 		ClinVar
CTD
RGD		 PMID:4492281 PMID:9326941 PMID:9501220 PMID:9843205 PMID:10090910 More... RGD:8547535, RGD:9585650, RGD:9585645 NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:288634 PMID:3214136 PMID:7611300 PMID:8673101 PMID:8817343 More... RGD:1599602, RGD:8547535, RGD:1599600, RGD:1599605 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:11528500 PMID:16272259 PMID:23105016 PMID:24516651 PMID:25741868 More... RGD:1599581 NCBI chr15:24,814,576...24,867,522
Ensembl chr15:24,814,614...24,868,605 		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
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9452120 PMID:9501883 PMID:9536098 PMID:9565049 PMID:15234147 More... RGD:8547535 NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:34906470 NCBI chr 5:172,113,900...172,142,026
Ensembl chr 5:166,831,663...166,850,009 		JBrowse link
G Scaper S-phase cyclin A-associated protein in the ER ISO ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar PMID:28794130 PMID:32214227 NCBI chr 8:64,828,789...65,228,240
Ensembl chr 8:55,933,306...56,332,122 		JBrowse link
G Sema4a semaphorin 4A ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:173,896,439...173,914,442 		JBrowse link
G Serpinf1 serpin family F member 1 treatment ISO human gene in a rat model RGD PMID:18837062 RGD:8554900 NCBI chr10:60,748,504...60,760,898
Ensembl chr10:60,249,708...60,262,646 		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 chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 More... NCBI chr 8:65,440,842...65,466,001
Ensembl chr 8:65,440,730...65,466,001 		JBrowse link
G Slc6a6 solute carrier family 6 member 6 ISS OMIM:268000 MouseDO NCBI chr 4:125,752,340...125,826,033
Ensembl chr 4:124,195,218...124,268,875 		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 chr 5:55,399,637...55,400,304
Ensembl chr 5:55,398,723...55,400,869 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO DNA:missense mutation:cds:p.S1087V (human)
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
DNA:missense mutation:cds:p.R1090L (human) 		ClinVar
RGD		 PMID:9536098 PMID:16612614 PMID:17576681 PMID:19878916 PMID:21618346 More... RGD:10448279, RGD:10448280 NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182 		JBrowse link
G Snx17 sorting nexin 17 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:25741868 NCBI chr 6:25,177,528...25,183,001
Ensembl chr 6:25,177,391...25,183,030 		JBrowse link
G Sod1 superoxide dismutase 1 severity ISO human gene in a mouse model RGD PMID:21736939 PMID:19293779 RGD:8655617, RGD:8158049 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 ISO RGD PMID:19293779 RGD:8158049 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa 		CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:19268277 PMID:22334370 PMID:23847139 More... NCBI chr 6:117,879,828...117,925,284
Ensembl chr 6:117,879,823...117,925,284 		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 chr 1:65,587,633...65,597,407
Ensembl chr 1:65,582,359...65,611,689 		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 chr 5:60,184,076...60,195,979
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 1:117,718,896...117,835,434
Ensembl chr 1:117,718,896...117,834,605 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar PMID:14520415 PMID:16308660 PMID:25097241 PMID:25326637 PMID:25741868 More... NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418 		JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24791901 PMID:25741868 PMID:27162334 PMID:28492532 PMID:32531858 NCBI chr 6:105,483,091...105,700,920
Ensembl chr 6:105,483,191...105,700,934 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:33,497,537...33,518,936
Ensembl chr 5:33,497,137...33,518,073 		JBrowse link
G Tulp1 TUB like protein 1 ISO RP14,OMIM:600132;DNA:point mutations:exon:R420P, F491L,I459K
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar
RGD		 PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 More... RGD:1624352, RGD:8547535 NCBI chr20:6,412,170...6,424,103
Ensembl chr20:6,412,171...6,424,073 		JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11006213 NCBI chr10:63,237,862...63,243,339
Ensembl chr10:63,237,903...63,243,339 		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
RGD		 PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... RGD:8547536 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G Ush1g USH1 protein network component sans ISO RGD PMID:20212494 RGD:8547536 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		JBrowse link
G Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: 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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.C759F (human)
DNA:snps, deletions, insertion:multiple (human)
DNA:missense mutation, snp:cds, intron:p.G1734R, g.IVS32+1G>A (human) 		ClinVar
CTD
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:3258136 PMID:3526624 More... RGD:8547535, RGD:8547967, RGD:8547966, RGD:8547963 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:eye: RGD PMID:18326689 RGD:7483592 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:25741868 PMID:26467025 More... NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
G Wdr19 WD repeat domain 19 ISO DNA:missense mutation:cds:p.L710S (human)
ClinVar Annotator: match by term: Retinitis pigmentosa 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:34906470 PMID:23683095 RGD:11552600 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration 		ClinVar PMID:9536098 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 More... NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880 		JBrowse link
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:20227676 PMID:20797688 PMID:25741868 PMID:28492532 NCBI chr 6:25,174,181...25,177,442
Ensembl chr 6:25,174,178...25,177,439 		JBrowse link
G Zfyve26 zinc finger FYVE-type containing 26 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 PMID:17512964 More... NCBI chr 6:98,031,874...98,095,538
Ensembl chr 6:98,032,520...98,095,480 		JBrowse link
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:28095122 NCBI chr 3:77,615,595...77,621,325
Ensembl chr 3:77,616,808...77,621,055 		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 chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Rp1 RP1, axonemal microtubule associated ISO
ISS 		ClinVar Annotator: match by term: RP1-related condition | ClinVar Annotator: match by term: RP1-related retinal dystrophy | ClinVar Annotator: match by term: Retinitis pigmentosa 1
OMIM:180100
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1783394 PMID:3196484 PMID:8931712 PMID:9536098 PMID:10391211 More... NCBI chr 5:15,121,104...15,582,363
Ensembl chr 5:15,121,133...15,579,363 		JBrowse link
retinitis pigmentosa 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: IMPDH1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 10
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11875049 PMID:11875050 PMID:15851576 PMID:15882147 More... NCBI chr 4:57,801,842...57,817,434
Ensembl chr 4:57,801,831...57,819,076 		JBrowse link
retinitis pigmentosa 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf31 pre-mRNA processing factor 31 ISO
ISS 		ClinVar Annotator: match by term: PRPF31-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 11
OMIM:600138
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3123501 PMID:5764686 PMID:8004108 PMID:8025041 PMID:8808602 More... NCBI chr 1:74,491,247...74,502,922
Ensembl chr 1:65,575,887...65,587,873 		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 chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO
ISS 		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:600105
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1389483 PMID:1427914 PMID:2906847 PMID:2953188 PMID:3012021 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		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 chr13:50,545,324...50,772,922
Ensembl chr13:50,545,836...50,770,601 		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 chr13:53,681,639...53,707,114
Ensembl chr13:51,130,920...51,156,381 		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 chr13:53,591,961...53,622,007
Ensembl chr13:51,042,948...51,065,768 		JBrowse link
retinitis pigmentosa 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 13 ClinVar PMID:16936081 PMID:25741868 PMID:26355662 PMID:28492532 NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO
ISS 		ClinVar Annotator: match by term: PRPF8-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 13
OMIM:600059
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11468273 PMID:11910553 PMID:12714658 PMID:16199547 More... NCBI chr10:60,829,778...60,852,887
Ensembl chr10:60,331,494...60,354,606 		JBrowse link
retinitis pigmentosa 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 14 ClinVar NCBI chr10:60,829,778...60,852,887
Ensembl chr10:60,331,494...60,354,606 		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 chr20:6,393,786...6,413,177
Ensembl chr20:6,392,053...6,411,446 		JBrowse link
G Tulp1 TUB like protein 1 ISO
ISS 		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 14
OMIM:600132
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2552515 PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 More... NCBI chr20:6,412,170...6,424,103
Ensembl chr20:6,412,171...6,424,073 		JBrowse link
retinitis pigmentosa 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Car4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: CA4-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 17 ClinVar PMID:7581389 PMID:9385361 PMID:15090652 PMID:15295099 PMID:15563508 More... NCBI chr10:70,325,102...70,333,916
Ensembl chr10:69,827,945...69,836,501 		JBrowse link
retinitis pigmentosa 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf3 pre-mRNA processing factor 3 ISO
ISS 		ClinVar Annotator: match by term: PRPF3-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 18
OMIM:601414
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:11773002 PMID:15085354 PMID:16799052 PMID:17517693 PMID:17932117 More... NCBI chr 2:183,379,041...183,403,526
Ensembl chr 2:183,378,718...183,403,489 		JBrowse link
retinitis pigmentosa 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO
ISS 		ClinVar Annotator: match by term: Retinitis pigmentosa 19
OMIM:601718
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:248200 PMID:3002862 PMID:3196484 PMID:4097981 PMID:8533764 More... NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
retinitis pigmentosa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ARF like GTPase 3 ISS OMIM:312600 MouseDO NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO
ISS 		ClinVar Annotator: match by term: RP2-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 2
OMIM:312600
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 More... NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688 		JBrowse link
retinitis pigmentosa 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO
ISS 		ClinVar Annotator: match by term: RPE65-related disorder | ClinVar Annotator: match by term: Retinitis pigmentosa 20
OMIM:613794
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3196484 PMID:4492281 PMID:9326927 PMID:9326941 PMID:9501220 More... NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
retinitis pigmentosa 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Retinitis Pigmentosa 23 | ClinVar Annotator: match by term: Retinitis pigmentosa 23 OMIM
ClinVar		 PMID:10892847 PMID:12595504 PMID:18546297 PMID:22619378 PMID:25741868 More... NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
retinitis pigmentosa 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chr 9:33,063,855...33,136,013
Ensembl chr 9:33,063,857...33,135,994 		JBrowse link
retinitis pigmentosa 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cerkl CERK like autophagy regulator ISO
ISS 		ClinVar Annotator: match by term: Retinitis pigmentosa 26
OMIM:608380
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 More... NCBI chr 3:64,238,714...64,344,695
Ensembl chr 3:64,237,522...64,340,675 		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 chr 3:84,569,487...84,646,276
Ensembl chr 3:64,163,085...64,233,715 		JBrowse link
retinitis pigmentosa 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: NRL-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 27
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10192380 PMID:11039579 PMID:11385710 PMID:11694879 PMID:11879142 More... NCBI chr15:29,007,059...29,011,480
Ensembl chr15:29,008,104...29,009,832 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Retinitis pigmentosa 27 ClinVar PMID:25741868 PMID:28492532 NCBI chr15:32,997,853...33,006,691
Ensembl chr15:29,027,894...29,037,283 		JBrowse link
retinitis pigmentosa 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam161a FAM161 centrosomal protein A ISO
ISS 		ClinVar Annotator: match by term: FAM161A-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 28
OMIM:606068 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:10507729 PMID:16199547 PMID:17576681 PMID:20705278 More... NCBI chr14:97,009,449...97,027,865
Ensembl chr14:97,009,491...97,028,588 		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 chr  X:43,264,687...43,616,607
Ensembl chr  X:43,263,490...43,616,852 		JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:16,030,596...16,065,065
Ensembl chr  X:13,359,430...13,392,586 		JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139 		JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:12,907,962...12,908,516 JBrowse link
G Iqcb1 IQ motif containing B1 severity ISO RGD PMID:22183348 PMID:21857984 RGD:11352374, RGD:11537386 NCBI chr11:77,410,986...77,465,540
Ensembl chr11:63,905,590...63,960,093 		JBrowse link
G Lancl3 LanC like family member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:13,478,499...13,609,934
Ensembl chr  X:13,480,311...13,609,678 		JBrowse link
G Mageb16 MAGE family member B16 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:43,693,205...43,725,664
Ensembl chr  X:43,693,211...43,725,657 		JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918 		JBrowse link
G Prrg1 proline rich and Gla domain 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:42,494,256...42,606,612
Ensembl chr  X:42,494,256...42,606,588 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar PMID:9536098 PMID:17576681 PMID:20625056 PMID:23150612 PMID:25741868 More... NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO
ISS 		ClinVar Annotator: match by term: Retinitis pigmentosa 3
OMIM:300029
CTD Direct Evidence: marker/mechanism
DNA:deletions:exon:p.E746RfsX768, p.E802GfsX833, p.T801TfsX813 (human)
DNA:deletion:exon:g.48061-48064delAAGT (human)
DNA:nonsense mutation:exon:p.G52X (human)
DNA:missense mutation:exon:p.G60V (human)
DNA:transversion:intron:IVS5+1G>T (human)
DNA:duplication:exon:?-?+32dup (mouse)
DNA:frameshift mutation:exon:c.2919delA (human)
DNA:deletion, nonsense mutation:exons:c.1536delC, p.E332X (human)
DNA:mutations:multiple (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:349855 PMID:7611300 PMID:8673101 PMID:8817343 PMID:9326322 More... RGD:8553233, RGD:8553228, RGD:8553210, RGD:8553208, RGD:8553206, RGD:8553204, RGD:8553202, RGD:8553198, RGD:8553196, RGD:8553229 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Rpgrip1l Rpgrip1-like severity ISO DNA:polymorphism:cds:p.R744Q (rs2302677)(human) RGD PMID:22183348 RGD:11352374 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083 		JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:12,676,984...12,751,296
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175 		JBrowse link
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:12,208,783...12,306,092
Ensembl chr  X:12,208,783...12,306,131 		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 chr  X:13,436,412...13,472,830
Ensembl chr  X:13,436,418...13,472,830 		JBrowse link
retinitis pigmentosa 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fscn2 fascin actin-bundling protein 2, retinal ISO
ISS 		ClinVar Annotator: match by term: FSCN2-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 30
OMIM:607921
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 More... NCBI chr10:105,634,783...105,641,322
Ensembl chr10:105,634,783...105,641,322 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16189705 PMID:17924349 PMID:18509552 PMID:19373681 PMID:22334370 More... NCBI chr 5:60,184,076...60,195,979
Ensembl chr 5:55,387,632...55,399,937 		JBrowse link
retinitis pigmentosa 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 32
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16189710 PMID:25741868 PMID:28492532 PMID:30157172 NCBI chr 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913 		JBrowse link
retinitis pigmentosa 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrnp200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 33 | ClinVar Annotator: match by term: SNRNP200-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3342916 PMID:16612614 PMID:19710410 PMID:19878916 PMID:21618346 More... NCBI chr 3:114,428,854...114,458,194
Ensembl chr 3:114,428,854...114,458,182 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16199541 PMID:20981092 PMID:22956603 PMID:23360997 PMID:24033266 More... NCBI chr 2:176,194,248...176,215,752
Ensembl chr 2:173,896,439...173,914,442 		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 chr10:102,376,506...102,386,272
Ensembl chr10:101,877,676...101,887,442 		JBrowse link
G Prcd photoreceptor disc component ISO ClinVar Annotator: match by term: Retinitis pigmentosa 36
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16938425 PMID:20507925 PMID:23661369 PMID:23805042 PMID:24992209 More... NCBI chr10:101,887,192...101,907,647 JBrowse link
retinitis pigmentosa 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 37
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 PMID:15459973 More... NCBI chr 8:60,365,581...60,373,383
Ensembl chr 8:60,366,124...60,373,163 		JBrowse link
retinitis pigmentosa 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mertk MER proto-oncogene, tyrosine kinase ISO ClinVar Annotator: match by term: MERTK-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 38 OMIM
ClinVar		 PMID:9536098 PMID:11062461 PMID:11727200 PMID:15111602 PMID:16199547 More... NCBI chr 3:136,391,936...136,498,366
Ensembl chr 3:115,939,351...116,046,554 		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 chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
retinitis pigmentosa 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rho rhodopsin ISO
ISS 		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, RHODOPSIN-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 4 | ClinVar Annotator: match by term: Retinitis pigmentosa 4, autosomal recessive
OMIM:613731
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1301135 PMID:1302614 PMID:1303237 PMID:1356370 PMID:1418997 More... NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		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 chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013 		JBrowse link
G Pde6b phosphodiesterase 6B ISO
ISS 		ClinVar Annotator: match by term: PDE6B-related disorder | ClinVar Annotator: match by term: Retinitis pigmentosa 40
OMIM:613801 		OMIM
ClinVar
MouseDO		 PMID:3203739 PMID:3253185 PMID:7599633 PMID:7724547 PMID:8394174 More... NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 40 ClinVar NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132 		JBrowse link
retinitis pigmentosa 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prom1 prominin 1 ISO
ISS 		ClinVar Annotator: match by term: Retinitis pigmentosa 41
OMIM:612095
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3181667 PMID:9536098 PMID:10205271 PMID:10587575 PMID:16199547 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
retinitis pigmentosa 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 42
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1872134 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19520207 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541 		JBrowse link
retinitis pigmentosa 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: PDE6A-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 43 OMIM
ClinVar		 PMID:3196484 PMID:7493036 PMID:9536098 PMID:10393062 PMID:16199547 More... NCBI chr18:54,676,863...54,748,640
Ensembl chr18:54,676,863...54,748,816 		JBrowse link
retinitis pigmentosa 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: RGR-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 44 OMIM
ClinVar		 PMID:9536098 PMID:10581022 PMID:17576681 PMID:25741868 PMID:27623334 More... NCBI chr16:12,801,594...12,816,402
Ensembl chr16:12,801,594...12,816,223 		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 chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173 		JBrowse link
retinitis pigmentosa 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3b isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: IDH3B-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 46 		OMIM
CTD
ClinVar		 PMID:18806796 PMID:25741868 PMID:28492532 PMID:31736247 NCBI chr 3:137,934,971...137,940,275
Ensembl chr 3:117,481,845...117,486,982 		JBrowse link
retinitis pigmentosa 47 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sag S-antigen visual arrestin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 47 OMIM
ClinVar		 PMID:7670478 PMID:9452120 PMID:9501883 PMID:9536098 PMID:9565049 More... NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820 		JBrowse link
retinitis pigmentosa 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Retinitis pigmentosa 48 OMIM
ClinVar		 PMID:15452722 PMID:15505030 PMID:22025579 PMID:25741868 PMID:26161267 More... NCBI chr 9:13,599,619...13,607,455
Ensembl chr 9:13,599,619...13,607,455 		JBrowse link
retinitis pigmentosa 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnga1 cyclic nucleotide gated channel subunit alpha 1 ISO
ISS 		ClinVar Annotator: match by term: CNGA1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 49
OMIM:613756 		OMIM
ClinVar
MouseDO		 PMID:7479749 PMID:12362048 PMID:15570217 PMID:16199547 PMID:18310263 More... NCBI chr14:35,566,947...35,605,065
Ensembl chr14:35,567,125...35,605,065 		JBrowse link
G Cngb1 cyclic nucleotide gated channel subunit beta 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 49 ClinVar PMID:23661369 PMID:24938718 PMID:25741868 PMID:28492532 NCBI chr19:9,726,595...9,791,111
Ensembl chr19:9,726,595...9,791,173 		JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 49 ClinVar PMID:1423936 PMID:1552912 PMID:1634614 PMID:1638703 PMID:1975517 More... NCBI chr15:32,416,525...32,439,851
Ensembl chr15:28,446,550...28,468,217 		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 chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		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 chr 1:216,052,037...216,054,325
Ensembl chr 1:206,627,103...206,725,424 		JBrowse link
retinitis pigmentosa 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 51 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16308660 PMID:16877420 PMID:17576681 More... NCBI chr 6:118,198,186...118,252,422
Ensembl chr 6:118,198,201...118,252,418 		JBrowse link
retinitis pigmentosa 54 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcare photoreceptor cilium actin regulator ISO
ISS 		ClinVar Annotator: match by term: Cone-rod dystrophy 23 | ClinVar Annotator: match by term: PCARE-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 54
OMIM:613428 		OMIM
ClinVar
MouseDO		 PMID:4543597 PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 More... NCBI chr 6:23,749,700...23,758,424
Ensembl chr 6:23,749,757...23,758,169 		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 chr11:40,711,878...40,738,254
Ensembl chr11:40,712,022...40,737,937 		JBrowse link
retinitis pigmentosa 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO
ISS 		ClinVar Annotator: match by term: Retinitis pigmentosa 56
OMIM:613581 		OMIM
ClinVar
MouseDO		 PMID:2487627 PMID:3253185 PMID:16199547 PMID:20673862 PMID:24876279 More... NCBI chr11:44,318,836...44,418,382
Ensembl chr11:44,318,836...44,418,382 		JBrowse link
retinitis pigmentosa 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6g phosphodiesterase 6G ISO ClinVar Annotator: match by term: Retinitis pigmentosa 57 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20655036 PMID:25741868 PMID:28492532 NCBI chr10:105,721,502...105,726,150
Ensembl chr10:105,721,682...105,726,719 		JBrowse link
retinitis pigmentosa 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 58 | ClinVar Annotator: match by term: ZNF513-related condition OMIM
ClinVar		 PMID:20227676 PMID:20797688 PMID:25741868 PMID:28492532 NCBI chr 6:25,174,181...25,177,442
Ensembl chr 6:25,174,178...25,177,439 		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 chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Aunip aurora kinase A and ninein interacting protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,722,329...146,734,924
Ensembl chr 5:146,722,337...146,736,501 		JBrowse link
G Catsper4 cation channel, sperm associated 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,427,682...146,447,346
Ensembl chr 5:146,427,683...146,446,942 		JBrowse link
G Cd52 CD52 molecule ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,319,789...146,321,348
Ensembl chr 5:146,319,969...146,321,348 		JBrowse link
G Cep85 centrosomal protein 85 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,356,571...146,404,155
Ensembl chr 5:146,356,576...146,404,060 		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 chr 5:151,731,222...151,742,049
Ensembl chr 5:146,447,497...146,458,212 		JBrowse link
G Crybg2 crystallin beta-gamma domain containing 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,286,406...146,318,417
Ensembl chr 5:146,286,925...146,323,666 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO
ISS 		ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ibb | ClinVar Annotator: match by term: Retinitis pigmentosa 59
OMIM:613861 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21295282 PMID:21295283 More... NCBI chr 5:146,198,359...146,224,479
Ensembl chr 5:146,197,457...146,224,454 		JBrowse link
G Extl1 exostosin-like glycosyltransferase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,573,911...146,589,115
Ensembl chr 5:146,573,912...146,589,115 		JBrowse link
G Fam110d family with sequence similarity 110, member D ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,471,048...146,474,019
Ensembl chr 5:146,471,049...146,474,056 		JBrowse link
G Gpatch3 G patch domain containing 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:145,800,107...145,809,519
Ensembl chr 5:145,800,111...145,809,250 		JBrowse link
G Gpn2 GPN-loop GTPase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:145,809,455...145,817,252
Ensembl chr 5:145,809,651...145,817,252 		JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521
Ensembl chr16:146,192,126...146,195,521 		JBrowse link
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878 		JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,955,607...146,978,601
Ensembl chr 5:146,955,607...146,978,601 		JBrowse link
G Lin28a lin-28 homolog A ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:151,510,891...151,527,884
Ensembl chr 5:146,227,119...146,244,122 		JBrowse link
G Man1c1 mannosidase, alpha, class 1C, member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,774,282...146,913,257
Ensembl chr 5:146,775,842...146,913,421 		JBrowse link
G Mtfr1l mitochondrial fission regulator 1-like ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,736,927...146,746,891
Ensembl chr 5:146,736,927...146,746,784 		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 chr 5:145,779,294...145,782,609
Ensembl chr 5:145,779,294...145,782,609 		JBrowse link
G Nudc nuclear distribution C, dynein complex regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:145,758,006...145,771,390
Ensembl chr 5:145,758,002...145,771,425 		JBrowse link
G Pafah2 platelet-activating factor acetylhydrolase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,607,050...146,636,203
Ensembl chr 5:146,613,498...146,634,943 		JBrowse link
G Paqr7 progestin and adipoQ receptor family member 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,709,159...146,720,577
Ensembl chr 5:146,708,900...146,720,673 		JBrowse link
G Pdik1l PDLIM1 interacting kinase 1 like ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,495,115...146,507,363
Ensembl chr 5:146,495,115...146,506,835 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:145,889,642...145,901,533
Ensembl chr 5:145,889,646...145,901,533 		JBrowse link
G Rps6ka1 ribosomal protein S6 kinase A1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:151,362,819...151,402,064
Ensembl chr 5:146,079,021...146,118,272 		JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,748,638...146,764,656
Ensembl chr 5:146,748,652...146,763,059 		JBrowse link
G Sfn stratifin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:145,826,722...145,827,994
Ensembl chr 5:145,826,201...145,831,314 		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 chr 5:146,354,152...146,355,525
Ensembl chr 5:146,354,152...146,355,331 		JBrowse link
G Slc30a2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:151,843,451...151,855,674
Ensembl chr 5:146,559,733...146,571,956 		JBrowse link
G Stmn1 stathmin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:151,964,308...151,970,843
Ensembl chr 5:146,681,436...146,687,154 		JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,533,492...146,547,332
Ensembl chr 5:146,533,507...146,547,322 		JBrowse link
G Ubxn11 UBX domain protein 11 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:146,329,666...146,353,529
Ensembl chr 5:146,329,842...146,353,526 		JBrowse link
G Zdhhc18 zinc finger DHHC-type palmitoyltransferase 18 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:145,821,534...145,859,989
Ensembl chr 5:145,831,446...145,859,993 		JBrowse link
G Zfp593 zinc finger protein 593 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:151,746,396...151,748,724
Ensembl chr 5:146,462,670...146,465,198 		JBrowse link
G Zfp683 zinc finger protein 683 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 5:151,558,880...151,569,937
Ensembl chr 5:146,278,978...146,285,000 		JBrowse link
retinitis pigmentosa 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Retinitis pigmentosa 6 ClinVar PMID:25741868 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
retinitis pigmentosa 60 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: PRPF6-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 60 OMIM
ClinVar		 PMID:21549338 PMID:25741868 PMID:28492532 NCBI chr 3:189,084,465...189,148,705
Ensembl chr 3:168,704,299...168,774,991 		JBrowse link
retinitis pigmentosa 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 61 OMIM
ClinVar		 PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		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 chr17:23,889,417...23,936,857
Ensembl chr17:23,693,878...23,730,001 		JBrowse link
retinitis pigmentosa 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbp3 retinol binding protein 3 ISO ClinVar Annotator: match by term: RBP3-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 66 OMIM
ClinVar		 PMID:9614228 PMID:19074801 PMID:21067480 PMID:23105016 PMID:23486466 More... NCBI chr16:9,267,538...9,276,006
Ensembl chr16:9,267,538...9,276,006 		JBrowse link
retinitis pigmentosa 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek2 NIMA-related kinase 2 ISO ClinVar Annotator: match by term: NEK2-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 67 OMIM
ClinVar		 PMID:3667284 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr13:103,405,818...103,419,063
Ensembl chr13:103,405,819...103,419,051 		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 chr 2:112,065,286...112,171,319
Ensembl chr 2:112,065,286...112,171,313 		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 chr 3:154,730,873...154,838,410
Ensembl chr 3:134,277,687...134,385,190 		JBrowse link
retinitis pigmentosa 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO
ISS 		ClinVar Annotator: match by term: Leber congenital amaurosis 18 | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic
OMIM:608133
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:1684223 PMID:3441139 PMID:3646071 PMID:7493155 PMID:7825692 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Rom1 retinal outer segment membrane protein 1 ISO ClinVar Annotator: match by term: ROM1-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7904211 PMID:8202715 PMID:16799052 PMID:25741868 PMID:26103963 More... NCBI chr 1:205,824,050...205,826,058
Ensembl chr 1:205,824,052...205,826,175 		JBrowse link
retinitis pigmentosa 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prpf4 pre-mRNA splicing tri-snRNP complex factor PRPF4 ISO ClinVar Annotator: match by term: PRPF4-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 70 OMIM
ClinVar		 PMID:8090199 PMID:9536098 PMID:17576681 PMID:24419317 PMID:25741868 More... NCBI chr 5:75,859,934...75,873,924
Ensembl chr 5:75,859,924...75,873,919 		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 chr 6:30,801,841...30,841,239
Ensembl chr 6:25,081,980...25,120,860 		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 chr 6:25,120,938...25,122,522
Ensembl chr 6:25,120,938...25,122,507 		JBrowse link
retinitis pigmentosa 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Znf408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 72 OMIM
ClinVar		 PMID:3196484 PMID:25741868 PMID:25882705 PMID:28492532 NCBI chr 3:77,615,595...77,621,325
Ensembl chr 3:77,616,808...77,621,055 		JBrowse link
retinitis pigmentosa 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 73 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16960811 PMID:17033958 PMID:17576681 More... NCBI chr16:72,807,967...72,840,180
Ensembl chr16:66,105,181...66,136,138 		JBrowse link
retinitis pigmentosa 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs2 Bardet-Biedl syndrome 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 74 OMIM
ClinVar		 PMID:11285252 PMID:11567139 PMID:12837689 PMID:19402160 PMID:20177705 More... NCBI chr19:10,915,566...10,950,911
Ensembl chr19:10,909,619...10,944,993 		JBrowse link
retinitis pigmentosa 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl5 AGBL carboxypeptidase 5 ISO ClinVar Annotator: match by term: AGBL5-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 75 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26355662 PMID:26720455 More... NCBI chr 6:25,472,333...25,492,173
Ensembl chr 6:25,472,333...25,490,738 		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 chr 5:134,870,971...134,880,864
Ensembl chr 5:129,634,294...129,644,149 		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 chr 5:134,883,704...134,896,083
Ensembl chr 5:129,646,993...129,652,017 		JBrowse link
retinitis pigmentosa 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reep6 receptor accessory protein 6 ISO
ISS 		ClinVar Annotator: match by term: REEP6-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 77
OMIM:617304 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:27889058 PMID:28369466 More... NCBI chr 7:10,024,601...10,031,507
Ensembl chr 7:9,373,927...9,380,597 		JBrowse link
retinitis pigmentosa 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: ARHGEF18-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 78 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28132693 PMID:28492532 PMID:32581362 NCBI chr12:1,395,035...1,503,082
Ensembl chr12:1,395,088...1,503,081 		JBrowse link
retinitis pigmentosa 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hk1 hexokinase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 79 OMIM
ClinVar		 PMID:25190649 PMID:25316723 PMID:25741868 PMID:26427411 PMID:28492532 More... NCBI chr20:30,773,222...30,874,814
Ensembl chr20:30,230,486...30,332,131 		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 chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		JBrowse link
retinitis pigmentosa 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift43 intraflagellar transport 43 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 81 OMIM
ClinVar		 PMID:16199547 PMID:21378380 PMID:25741868 PMID:28400947 PMID:28492532 More... NCBI chr 6:105,729,734...105,806,257
Ensembl chr 6:105,729,792...105,806,257 		JBrowse link
retinitis pigmentosa 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 83 OMIM
ClinVar		 PMID:25741868 PMID:26964041 PMID:28492532 PMID:30932721 NCBI chr 1:245,400,659...245,446,673
Ensembl chr 1:245,400,550...245,446,820 		JBrowse link
retinitis pigmentosa 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhx38 DEAH-box helicase 38 ISO ClinVar Annotator: match by term: DHX38-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 84 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24737827 PMID:25741868 PMID:28492532 More... NCBI chr19:37,512,893...37,530,135
Ensembl chr19:37,512,891...37,530,140 		JBrowse link
retinitis pigmentosa 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahr aryl hydrocarbon receptor ISO ClinVar Annotator: match by term: AHR-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 85 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29726989 NCBI chr 6:57,961,423...57,998,901
Ensembl chr 6:52,234,089...52,271,568 		JBrowse link
retinitis pigmentosa 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kiaa1549 KIAA1549 homolog ISO ClinVar Annotator: match by term: KIAA1549-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 86 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30120214 NCBI chr 4:66,840,674...66,968,407
Ensembl chr 4:66,760,162...66,968,436 		JBrowse link
retinitis pigmentosa 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 87 with choroidal involvement OMIM
ClinVar		 PMID:3196484 PMID:9326941 PMID:9501220 PMID:9536098 PMID:9843205 More... NCBI chr 2:251,425,228...251,457,209
Ensembl chr 2:248,766,612...248,798,403 		JBrowse link
retinitis pigmentosa 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 88 OMIM
ClinVar		 PMID:3253185 PMID:20826268 PMID:22466457 PMID:23281133 PMID:23619761 More... NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316 		JBrowse link
retinitis pigmentosa 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif3b kinesin family member 3B ISO ClinVar Annotator: match by term: Retinitis pigmentosa 89 OMIM
ClinVar		 PMID:25741868 PMID:32386558 NCBI chr 3:162,218,621...162,258,191
Ensembl chr 3:141,758,466...141,797,963 		JBrowse link
retinitis pigmentosa 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp9 RP9, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Retinitis pigmentosa 9
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1479605 PMID:3181667 PMID:8025041 PMID:8513323 PMID:12032732 More... NCBI chr 8:20,955,447...21,005,225
Ensembl chr 8:20,941,362...21,005,175 		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 chr 8:63,887,433...63,943,486
Ensembl chr 8:54,991,296...55,047,391 		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 chr 8:63,867,882...63,887,223
Ensembl chr 8:54,971,740...54,991,084 		JBrowse link
retinitis pigmentosa 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Macular dystrophy, concentric annular 		ClinVar
RGD		 PMID:10090887 PMID:10958761 PMID:10958763 PMID:15614537 PMID:18285826 More... RGD:7829711 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy ClinVar PMID:22968130 PMID:23806086 PMID:24088041 PMID:25259927 PMID:25270190 More... NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 More... NCBI chr 8:81,243,624...81,389,722
Ensembl chr 8:81,243,624...81,389,722 		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 chr20:30,335,322...30,373,792
Ensembl chr20:30,335,628...30,373,867 		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 chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949 		JBrowse link
retinitis pigmentosa 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vwa8 von Willebrand factor A domain containing 8 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 97 OMIM
ClinVar		 PMID:25741868 PMID:27229527 NCBI chr15:54,252,703...54,576,871
Ensembl chr15:54,252,584...54,576,870 		JBrowse link
retinitis pigmentosa 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 98 OMIM
ClinVar		 PMID:16199547 PMID:20512146 PMID:25741868 PMID:28492532 PMID:39191256 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754 		JBrowse link
RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trnt1 tRNA nucleotidyl transferase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and erythrocytic microcytosis OMIM
ClinVar		 PMID:3333257 PMID:24033266 PMID:25193871 PMID:25652405 PMID:25741868 More... NCBI chr 4:139,681,115...139,703,611
Ensembl chr 4:139,680,858...139,703,611 		JBrowse link
retinitis pigmentosa with or without situs inversus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl2bp ARF like GTPase 2 binding protein ISO
ISS 		ClinVar Annotator: match by term: ARL2BP-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa with or without situs inversus
OMIM:615434 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:23849777 PMID:25741868 PMID:27790702 More... NCBI chr19:10,336,921...10,346,555
Ensembl chr19:10,336,921...10,346,564 		JBrowse link
Retinitis Pigmentosa, Late-Onset Dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prph2 peripherin 2 ISO DNA:polymorphism:cds:p.C214S(human) RGD PMID:8244346 RGD:8553240 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		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 chr20:28,756,951...28,783,422
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr20:28,824,493...28,850,175
Ensembl chr20:28,281,596...28,303,878 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:76,828,301...76,912,223 		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
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9409377 PMID:9536098 PMID:9855554 PMID:17576681 PMID:21070897 More... NCBI chr13:102,586,263...102,608,647
Ensembl chr13:102,586,257...102,608,661 		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 chr 6:105,408,355...105,472,355
Ensembl chr 6:105,408,339...105,472,353 		JBrowse link
RHYNS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, HYPOPITUITARISM, NEPHRONOPHTHISIS, AND MILD SKELETAL DYSPLASIA | ClinVar Annotator: match by term: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome OMIM
ClinVar		 PMID:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 More... NCBI chr 5:30,333,793...30,386,702
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM
ClinVar		 PMID:8279480 PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 More... NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephrocystin 4 ISO ClinVar Annotator: match by term: Senior-Loken syndrome 4
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1248184 PMID:6837691 PMID:9536098 PMID:11920287 PMID:12205563 More... NCBI chr 5:168,270,522...168,356,393
Ensembl chr 5:162,988,370...163,073,706 		JBrowse link
short stature, hearing loss, retinitis pigmentosa, and distinctive facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: EXOSC2-related condition | ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies OMIM
ClinVar		 PMID:14647208 PMID:15060126 PMID:16199547 PMID:24447024 PMID:25741868 More... NCBI chr 3:14,962,930...14,973,645
Ensembl chr 3:14,962,917...14,973,575 		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 chr10:13,886,948...13,944,286
Ensembl chr10:13,382,540...13,439,745 		JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,645,373...11,768,462
Ensembl chr10:11,139,446...11,262,066 		JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,187,579...13,196,148
Ensembl chr10:13,187,578...13,196,095 		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 chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806 		JBrowse link
G Antkmt adenine nucleotide translocase lysine methyltransferase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,812,274...14,814,798
Ensembl chr10:14,812,269...14,814,193 		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 chr10:15,219,049...15,221,257
Ensembl chr10:15,219,049...15,221,213 		JBrowse link
G Atp6v0c ATPase H+ transporting V0 subunit C ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,700,764...13,707,147
Ensembl chr10:13,196,204...13,201,500 		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 chr10:15,667,894...15,720,092
Ensembl chr10:15,163,684...15,215,615 		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 chr10:14,260,269...14,273,019
Ensembl chr10:14,260,269...14,273,019 		JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,691,610...12,700,049
Ensembl chr10:12,691,610...12,700,049 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,498,726...13,500,259
Ensembl chr10:13,498,381...13,500,259 		JBrowse link
G C10h16orf90 similar to human chromosome 16 open reading frame 90 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,618,867...11,632,151
Ensembl chr10:11,618,348...11,629,910 		JBrowse link
G C10h16orf96 similar to human chromosome 16 open reading frame 96 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,707,529...10,750,893 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 chr10:14,894,630...14,952,317
Ensembl chr10:14,390,113...14,448,376 		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 chr10:14,972,807...14,999,411
Ensembl chr10:14,972,800...14,999,508 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,512,684...13,533,380
Ensembl chr10:13,513,465...13,533,377 		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 chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253 		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 chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,757,884...13,783,669
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
G Cdip1 cell death-inducing p53 target 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,773,538...10,796,979
Ensembl chr10:10,774,705...10,796,980 		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 chr10:14,743,006...14,751,044
Ensembl chr10:14,742,621...14,751,050 		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 chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950 		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 chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,213,837...13,218,578
Ensembl chr10:12,709,960...12,715,973 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,218,728...13,220,159 JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,880,299...10,941,001
Ensembl chr10:10,885,196...10,941,001 		JBrowse link
G Cramp1 cramped chromatin regulator homolog 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,983,781...14,032,409
Ensembl chr10:13,983,866...14,032,392 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,335,953...11,461,888 		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 chr10:15,104,907...15,113,281
Ensembl chr10:15,002,926...15,118,479 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,600,747...10,614,891
Ensembl chr10:10,600,734...10,614,891 		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 chr10:11,361,168...11,386,599
Ensembl chr10:10,854,732...10,880,161 		JBrowse link
G Dnase1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,498,930...11,505,151
Ensembl chr10:11,498,931...11,501,869 		JBrowse link
G Dnase1l2 deoxyribonuclease 1 like 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,471,850...13,473,447
Ensembl chr10:13,471,479...13,473,763 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,471,478...13,495,018
Ensembl chr10:13,474,456...13,485,974 		JBrowse link
G Eci1 enoyl-CoA delta isomerase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,456,715...13,470,061
Ensembl chr10:13,456,563...13,470,061 		JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,848,830...12,853,897
Ensembl chr10:12,848,827...12,853,635 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,913,216...13,915,991
Ensembl chr10:13,913,221...13,915,968 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,873,539...13,874,978
Ensembl chr10:13,873,527...13,875,012 		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 chr10:15,232,267...15,263,529
Ensembl chr10:15,232,278...15,263,488 		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 chr10:14,829,453...14,841,739
Ensembl chr10:14,829,449...14,840,986 		JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,774,644...12,794,373
Ensembl chr10:12,774,653...12,794,267 		JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,798,757...12,807,082
Ensembl chr10:12,798,762...12,806,439 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,718,489...13,721,782
Ensembl chr10:13,718,489...13,720,869 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,457,594...11,484,948
Ensembl chr10:10,951,371...10,971,578 		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 chr10:14,741,179...14,743,083
Ensembl chr10:14,741,239...14,743,083 		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 chr10:14,252,186...14,257,128
Ensembl chr10:14,251,136...14,257,096 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,874,883...13,889,527
Ensembl chr10:13,875,241...13,889,504 		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 chr10:14,804,957...14,809,495
Ensembl chr10:14,804,997...14,807,665 		JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,705,139...12,706,852
Ensembl chr10:12,705,077...12,706,850 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,797,076...10,831,178
Ensembl chr10:10,797,055...10,831,148 		JBrowse link
G Hs3st6 heparan sulfate-glucosamine 3-sulfotransferase 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,781,999...13,788,133
Ensembl chr10:13,781,993...13,788,133 		JBrowse link
G Ift140 intraflagellar transport 140 ISO
ISS 		ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly
OMIM:266920 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19370764 PMID:19561590 More... NCBI chr10:14,032,665...14,121,682
Ensembl chr10:14,032,648...14,120,433 		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 chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		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 chr10:14,848,965...14,851,881
Ensembl chr10:14,848,980...14,851,879 		JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,963,135...13,983,212
Ensembl chr10:13,963,137...13,983,170 		JBrowse link
G Kctd5 potassium channel tetramerization domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,079,216...13,105,197
Ensembl chr10:13,079,214...13,105,209 		JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,763,345...12,767,622
Ensembl chr10:12,763,397...12,767,854 		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 chr10:14,597,726...14,684,071
Ensembl chr10:14,597,594...14,684,119 		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 chr10:15,273,340...15,307,131
Ensembl chr10:15,273,348...15,303,112 		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 chr10:14,422,936...14,463,387
Ensembl chr10:13,918,400...13,958,273 		JBrowse link
G Mcrip2 MAPK regulated co-repressor 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 chr10:15,388,325...15,393,302
Ensembl chr10:14,883,813...14,894,021 		JBrowse link
G Mefv MEFV innate immunity regulator, pyrin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,786,948...11,796,977
Ensembl chr10:11,787,422...11,796,973 		JBrowse link
G Meiob meiosis specific with OB-fold ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,833,170...13,865,684
Ensembl chr10:13,833,750...13,865,046 		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 chr10:15,321,200...15,323,218
Ensembl chr10:14,816,572...14,818,701 		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 chr10:14,894,574...14,908,067
Ensembl chr10:14,894,581...14,905,851 		JBrowse link
G Mgrn1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,638,881...10,688,332
Ensembl chr10:10,638,880...10,688,315 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,498,377...13,504,128
Ensembl chr10:13,498,388...13,504,128 		JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,661,297...12,676,119
Ensembl chr10:12,661,208...12,675,871 		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 chr10:15,148,698...15,151,581
Ensembl chr10:15,148,681...15,151,581 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,916,024...13,917,155
Ensembl chr10:13,916,026...13,918,406 		JBrowse link
G Msln mesothelin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,771,946...14,781,382
Ensembl chr10:14,771,961...14,777,643 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,764,883...13,770,609
Ensembl chr10:13,764,883...13,770,609 		JBrowse link
G Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,622,554...11,653,078
Ensembl chr10:11,587,916...11,642,755 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,253,805...14,255,966
Ensembl chr10:13,749,275...13,751,442 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,662,461...13,672,975
Ensembl chr10:13,662,461...13,673,049 		JBrowse link
G Nlrc3 NLR family, CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,551,378...11,585,027
Ensembl chr10:11,551,356...11,584,398 		JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,917,309...13,918,415
Ensembl chr10:13,917,403...13,918,359 		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 chr10:15,114,624...15,118,479
Ensembl chr10:15,002,926...15,118,479 		JBrowse link
G Nmral1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,841,693...10,850,199
Ensembl chr10:10,841,799...10,850,192 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,723,253...13,726,008
Ensembl chr10:13,721,473...13,726,061 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,680,275...13,681,618
Ensembl chr10:13,680,321...13,681,586 		JBrowse link
G Nthl1 nth-like DNA glycosylase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,655,791...13,661,958
Ensembl chr10:13,655,785...13,661,957 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,236,905...13,240,001
Ensembl chr10:13,236,905...13,240,001 		JBrowse link
G Nubp2 NUBP iron-sulfur cluster assembly factor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,903,224...13,906,928
Ensembl chr10:13,903,224...13,906,969 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,636,174...10,638,090
Ensembl chr10:10,636,174...10,688,370 		JBrowse link
G Or1f34 olfactory receptor family 1 subfamily F member 34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,333,860...12,334,801
Ensembl chr10:12,333,860...12,334,801 		JBrowse link
G Or2c1 olfactory receptor family 2 subfamily C member 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,682,890...11,683,828
Ensembl chr10:11,681,001...11,692,105 		JBrowse link
G Pam16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,942,534...10,950,654
Ensembl chr10:10,943,001...10,950,649 		JBrowse link
G Paqr4 progestin and adipoQ receptor family member 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,758,970...12,762,649
Ensembl chr10:12,758,972...12,762,584 		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 chr10:15,215,824...15,218,937
Ensembl chr10:15,215,824...15,220,931 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase-1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,610,000...13,687,226
Ensembl chr10:13,105,498...13,174,623 		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 chr10:15,138,918...15,148,431
Ensembl chr10:15,138,959...15,148,431 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,495,232...13,497,858
Ensembl chr10:13,494,291...13,497,858 		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 chr10:14,942,571...14,958,584
Ensembl chr10:14,942,577...14,958,584 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,573,779...13,621,138
Ensembl chr10:13,573,021...13,621,128 		JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,748,221...12,758,995
Ensembl chr10:12,748,237...12,758,995 		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 chr10:14,961,955...14,966,818
Ensembl chr10:14,962,162...14,964,152 		JBrowse link
G Prss21 serine protease 21 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,899,820...12,905,612
Ensembl chr10:12,900,535...12,905,618 		JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,029,153...13,033,863
Ensembl chr10:13,029,153...13,033,863 		JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,069,959...13,077,322
Ensembl chr10:13,069,959...13,077,322 		JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,858,941...12,861,281
Ensembl chr10:12,858,941...12,861,281 		JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,865,872...12,873,552
Ensembl chr10:12,865,872...12,873,552 		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 chr10:14,140,028...14,146,163
Ensembl chr10:14,140,304...14,144,846 		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 chr10:15,507,151...15,591,173
Ensembl chr10:15,002,926...15,118,479 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,057,942...14,062,602
Ensembl chr10:13,553,395...13,558,030 		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 chr10:14,900,926...14,936,153
Ensembl chr10:14,900,929...14,936,557 		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 chr10:15,222,804...15,231,062
Ensembl chr10:15,222,803...15,231,060 		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 chr10:14,854,514...14,858,848
Ensembl chr10:14,854,514...14,857,430 		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 chr10:14,858,954...14,864,751
Ensembl chr10:14,858,956...14,864,751 		JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,742,682...13,747,192
Ensembl chr10:13,742,682...13,745,000 		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 chr10:13,445,516...13,455,858
Ensembl chr10:13,445,653...13,455,858 		JBrowse link
G Rogdi rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,567,834...10,572,453
Ensembl chr10:10,567,834...10,572,452 		JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,753,914...13,764,458
Ensembl chr10:13,753,886...13,764,457 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,747,316...13,749,165
Ensembl chr10:13,747,301...13,749,163 		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 chr10:14,751,310...14,755,213
Ensembl chr10:14,751,384...14,755,207 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,580,900...10,590,582
Ensembl chr10:10,581,008...10,590,581 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,526,623...11,549,313
Ensembl chr10:11,528,424...11,549,295 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,572,146...10,574,339 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 chr10:15,089,357...15,094,345
Ensembl chr10:14,584,829...14,589,818 		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 chr10:13,907,175...13,912,841
Ensembl chr10:13,907,253...13,912,841 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,033,976...11,078,103
Ensembl chr10:11,034,035...11,078,101 		JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,815,471...12,848,750
Ensembl chr10:12,815,471...12,848,751 		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 chr10:15,010,209...15,017,469
Ensembl chr10:14,506,868...14,512,946 		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 chr10:15,355,278...15,357,559
Ensembl chr10:14,850,765...14,853,046 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,710,553...13,715,309
Ensembl chr10:13,704,998...13,715,669 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,726,127...13,731,340
Ensembl chr10:13,726,129...13,731,372 		JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,246,032...13,251,196
Ensembl chr10:13,246,037...13,251,124 		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 chr10:14,120,491...14,135,729
Ensembl chr10:14,120,818...14,135,698 		JBrowse link
G Tfap4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,001,338...11,019,386
Ensembl chr10:11,002,911...11,019,386 		JBrowse link
G Thoc6 THO complex subunit 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,700,051...12,705,411
Ensembl chr10:12,700,051...12,706,925 		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 chr10:14,076,518...14,104,849
Ensembl chr10:14,076,519...14,101,920 		JBrowse link
G Tnfrsf12a TNF receptor superfamily member 12A ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,211,670...13,213,666
Ensembl chr10:12,689,890...12,709,045 		JBrowse link
G Tpsab1 tryptase alpha/beta 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,360,396...14,362,811
Ensembl chr10:14,360,396...14,362,811 		JBrowse link
G Tpsb2 tryptase beta 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,381,779...14,383,571
Ensembl chr10:14,382,013...14,383,569 		JBrowse link
G Tpsg1 tryptase gamma 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,386,352...14,390,258
Ensembl chr10:14,386,352...14,390,258 		JBrowse link
G Traf7 TNF receptor associated factor 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:13,533,570...13,552,290
Ensembl chr10:13,533,570...13,552,203 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,464,882...11,498,931
Ensembl chr10:11,464,821...11,498,981 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,125,679...14,160,317
Ensembl chr10:13,621,136...13,655,951 		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 chr10:14,257,161...14,259,562
Ensembl chr10:14,257,171...14,259,561 		JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:10,695,754...10,700,519
Ensembl chr10:10,695,717...10,700,518 		JBrowse link
G Ube2i ubiquitin-conjugating enzyme E2I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,277,749...14,294,681
Ensembl chr10:69,701,618...69,702,443
Ensembl chr10:69,701,618...69,702,443 		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 chr10:14,206,125...14,252,226
Ensembl chr10:14,206,189...14,252,225 		JBrowse link
G Uqcc4 ubiquinol-cytochrome c reductase complex assembly factor 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr10:14,202,217...14,203,519
Ensembl chr10:14,202,243...14,204,029 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,424,174...11,434,681
Ensembl chr10:10,917,605...10,928,357 		JBrowse link
G Wdr19 WD repeat domain 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:25741868 PMID:33002628 PMID:33532864 NCBI chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		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 chr10:14,844,089...14,848,871
Ensembl chr10:14,843,728...14,848,864 		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 chr10:14,864,672...14,881,285
Ensembl chr10:14,864,670...14,881,292 		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 chr10:14,896,442...14,898,770
Ensembl chr10:14,896,378...14,899,863 		JBrowse link
G Zfp13 zinc finger protein 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,615,455...12,623,615
Ensembl chr10:12,615,190...12,623,615 		JBrowse link
G Zfp174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,666,580...11,676,328
Ensembl chr10:11,669,913...11,676,312 		JBrowse link
G Zfp213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,592,368...12,599,296
Ensembl chr10:12,592,368...12,599,281 		JBrowse link
G Zfp263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,764,424...11,774,324
Ensembl chr10:11,764,427...11,771,235 		JBrowse link
G Zfp597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:11,653,169...11,658,843
Ensembl chr10:11,653,127...11,660,675 		JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:14,198,763...14,210,773
Ensembl chr10:13,694,286...13,706,233 		JBrowse link
G Zg16b zymogen granule protein 16B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,970,888...12,984,170
Ensembl chr10:12,979,020...12,983,572 		JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr10:12,636,302...12,646,275
Ensembl chr10:12,636,302...12,646,275 		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 chr 7:16,216,055...17,808,790
Ensembl chr 7:17,376,372...17,808,790 		JBrowse link
G Timp3 TIMP metallopeptidase inhibitor 3 ISO
ISS 		ClinVar Annotator: match by term: Sorsby fundus dystrophy | ClinVar Annotator: match by term: TIMP3-related condition
OMIM:136900
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr 7:19,408,539...19,459,558
Ensembl chr 7:17,521,919...17,571,839 		JBrowse link
spondylometaphyseal dysplasia with cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcyt1a phosphate cytidylyltransferase 1A, choline ISO ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15326626 PMID:21412974 PMID:24387990 PMID:24387991 PMID:25741868 More... NCBI chr11:81,818,914...81,862,623
Ensembl chr11:68,313,882...68,357,357 		JBrowse link
Stargardt Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 susceptibility
treatment 		ISO ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Generalized choriocapillaris dystrophy | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1
DNA:mutation:exon:c.2041C>T(human)
DNA:mutations:multiple: 		OMIM
ClinVar
RGD		 PMID:248200 PMID:2552515 PMID:2916264 PMID:2955595 PMID:2964157 More... RGD:7829716, RGD:7815046, RGD:7815046, RGD:7815045 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Abcb4 ATP binding cassette subfamily B member 4 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:12891548 PMID:18482588 PMID:20537830 PMID:23533021 PMID:25741868 More... NCBI chr 4:26,106,895...26,164,440
Ensembl chr 4:25,151,953...25,209,202 		JBrowse link
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 ClinVar PMID:12215968 PMID:12910490 PMID:17314340 PMID:19162478 PMID:19389488 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10854112 PMID:16754206 PMID:18179881 PMID:21109774 PMID:21192766 More... NCBI chr 1:216,054,395...216,071,012
Ensembl chr 1:206,629,500...206,646,063 		JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 		ClinVar PMID:1347967 PMID:3442652 PMID:10888875 PMID:10958649 PMID:12815043 More... NCBI chr 5:32,746,988...32,995,121
Ensembl chr 5:32,746,988...32,995,121 		JBrowse link
G Kcnv2 potassium voltage-gated channel modifier subfamily V member 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:8333273 PMID:18235024 PMID:30718709 NCBI chr 1:224,999,552...225,014,062
Ensembl chr 1:224,999,552...225,014,062 		JBrowse link
G Lama4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr20:42,392,268...42,533,347
Ensembl chr20:42,392,268...42,533,347 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25333361 PMID:25741868 PMID:28041643 PMID:28492532 PMID:28586915 More... NCBI chr 2:125,749,994...125,784,689
Ensembl chr 2:123,816,614...123,857,971 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:11440988 PMID:11440989 PMID:20157015 PMID:20952381 PMID:23384603 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:24154662 More... NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1 		ClinVar PMID:279751 PMID:3441139 PMID:4142662 PMID:7493155 PMID:7519821 More... NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 4:148,975,597...148,988,693
Ensembl chr 4:148,980,611...148,985,773 		JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:25741868 NCBI chr15:38,259,907...38,271,269
Ensembl chr15:38,259,928...38,270,316 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 ClinVar PMID:25326637 PMID:28492532 NCBI chr 5:66,449,348...66,506,371
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
Usher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:3258136 PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 More... NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 4:117,781,444...117,800,103
Ensembl chr 4:116,223,799...116,242,475 		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 chr 1:211,614,195...211,633,504
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:99,397,127...99,425,056
Ensembl chr13:96,868,580...96,893,503 		JBrowse link
G C13h1orf115 similar to human chromosome 1 open reading frame 115 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness 		ClinVar PMID:25741868 PMID:28492532 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... RGD:8547536 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 PMID:31456290 NCBI chr 3:144,470,946...144,516,125
Ensembl chr 3:144,471,214...144,516,125 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 More... NCBI chr 8:54,930,265...54,947,157 JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		ClinVar
RGD		 PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 More... RGD:8547535 NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:25741868 NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:98,145,317...98,183,304
Ensembl chr13:95,614,292...95,651,716 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397 		JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 4:67,274,104...67,282,140
Ensembl chr 4:67,274,104...67,282,140 		JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:98,784,993...98,925,696
Ensembl chr13:98,784,969...98,925,661 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:95,054,685...95,074,609
Ensembl chr13:95,054,694...95,074,608 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:98,811,852...98,817,264
Ensembl chr13:96,280,339...96,285,750 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501 		JBrowse link
G Luc7l2 LUC7-like 2 pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 4:67,287,593...67,347,986
Ensembl chr 4:67,287,640...67,347,964 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:97,626,568...97,657,901
Ensembl chr13:97,626,451...97,657,867 		JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,324,377...96,362,677
Ensembl chr13:96,339,757...96,397,796 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,362,810...96,397,284 JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:2696932 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 More... RGD:8547536 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... RGD:8547536 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chr18:54,676,863...54,748,640
Ensembl chr18:54,676,863...54,748,816 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr14:71,202,303...71,307,008
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:98,276,276...98,299,357
Ensembl chr13:98,276,134...98,299,370 		JBrowse link
G Serpinb6a serpin family B member 6A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr17:30,871,468...30,989,703
Ensembl chr17:30,871,468...31,014,427 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:98,605,986...98,784,855
Ensembl chr13:98,605,986...98,784,929 		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 chr13:95,012,160...95,048,131
Ensembl chr13:95,029,225...95,048,087 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:100,691,540...100,793,227
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Ush1c USH1 protein network component harmonin treatment ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
DNA:mutations:cds: 		ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8547536, RGD:8695937, RGD:8695939, RGD:8694458, RGD:8694457 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		ClinVar
RGD		 PMID:12588794 PMID:22219650 PMID:24033266 PMID:25741868 PMID:27460420 More... RGD:8547536 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		JBrowse link
G Ush2a usherin susceptibility 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
DNA:snps, insertion:exon, intron:multiple (human) 		ClinVar
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:3526624 PMID:9536098 More... RGD:8547535, RGD:8547956 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11973626 PMID:12833159 PMID:15841483 PMID:21569298 PMID:22147658 More... NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:76,828,301...76,912,223 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880 		JBrowse link
Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr 8:54,930,265...54,947,157 JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
G Myo7a myosin VIIA ISO
ISS 		DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
OMIM:276900 		ClinVar
MouseDO
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694152 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		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 chr20:28,756,951...28,783,422
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Ush1c USH1 protein network component harmonin onset ISO DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
ClinVar Annotator: match by term: Usher syndrome type 1
DNA:mutation:cds: c.216G>A(human)
DNA:deletion:exon:c.1220delG(human) 		ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695918, RGD:8695921, RGD:8695919 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		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 chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h10orf105 similar to human chromosome 10 open reading frame 105 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 chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cdh23 cadherin-related 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 chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Myo7a myosin VIIA treatment ISO
IAGP 		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
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation
DNA:mutations: :multiple 		OMIM
ClinVar
CTD
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:1581470, RGD:8694151, RGD:8694151, RGD:8694137, RGD:8694135 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		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 chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		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 chr20:28,756,951...28,783,422
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
Usher syndrome type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO
ISS 		ClinVar Annotator: match by term: Usher syndrome type 1C
CTD Direct Evidence: marker/mechanism
OMIM:276904
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human) 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:1600453 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h10orf105 similar to human chromosome 10 open reading frame 105 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 chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cdh23 cadherin-related 23 ISO
ISS 		ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
OMIM:601067
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... RGD:8662279 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr20:28,824,493...28,850,175
Ensembl chr20:28,281,596...28,303,878 		JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO
ISS 		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F
OMIM:602083
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Ush1g USH1 protein network component sans ISO
ISS 		ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G
CTD Direct Evidence: marker/mechanism
OMIM:606943 		OMIM
ClinVar
CTD
MouseDO		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		JBrowse link
Usher syndrome type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chr 8:54,930,265...54,947,157 JBrowse link
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
Usher syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 More... NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 PMID:32531858 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 More... NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G Ush2a usherin susceptibility ISO DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:mutations: :multiple
DNA:snp:intron:c.7595-2144A>G (human)
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human) 		ClinVar
RGD		 PMID:2564938 PMID:10729113 PMID:10738000 PMID:10909849 PMID:11311042 More... RGD:8547952, RGD:8694137, RGD:8547985, RGD:8547965, RGD:8547962 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
Usher syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
G Ush2a usherin susceptibility ISO
ISS 		ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
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
OMIM:276901
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547987, RGD:8547961 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
Usher Syndrome Type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More... NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26849169 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092 		JBrowse link
Usher syndrome type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO
ISS 		ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
OMIM:605472
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3258136 PMID:3442652 PMID:9536098 PMID:10234513 PMID:14740321 More... NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Cnksr1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:25741868 NCBI chr 5:151,731,222...151,742,049
Ensembl chr 5:146,447,497...146,458,212 		JBrowse link
G Crygc crystallin, gamma C ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:21900877 PMID:25741868 PMID:28492532 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:20440071 PMID:24033266 PMID:24498627 PMID:25741868 PMID:26416264 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
G Slc4a7 solute carrier family 4 member 7 ISS OMIM:605472 MouseDO NCBI chr15:10,585,307...10,664,780
Ensembl chr15:10,588,979...10,664,781 		JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIC ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092 		JBrowse link
Usher syndrome type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO
ISS 		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D
OMIM:611383 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:12833159 PMID:15841483 PMID:16199547 PMID:17171570 More... NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:76,828,301...76,912,223 		JBrowse link
Usher syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISS
ISO 		ClinVar Annotator: match by term: Usher syndrome type 3 MouseDO
ClinVar		 PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
Usher syndrome type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO
ISS 		ClinVar Annotator: match by term: CLRN1-related condition | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A
OMIM:276902 		ClinVar
MouseDO
OMIM
RGD		 PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... RGD:634439 NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 3A ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		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 chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316 		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 chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747 		JBrowse link
Usher Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 More... NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941 		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 chr10:95,120,537...95,139,028
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
X-linked cone-rod dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pbx3 PBX homeobox 3 ISO ClinVar Annotator: match by term: X-linked cone-rod dystrophy ClinVar NCBI chr 3:17,488,691...17,682,412
Ensembl chr 3:17,488,693...17,682,791 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO
ISS 		DNA:deletions, insertion, snp:cds:multiple (human)
ClinVar Annotator: match by term: X-linked cone-rod dystrophy | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1
OMIM:304020
DNA:deletions:exon:g.47192_47206del15, g.47841_47842delGG (human) 		ClinVar
MouseDO
OMIM
RGD		 PMID:8673101 PMID:10480356 PMID:10482958 PMID:10932196 PMID:10937588 More... RGD:8553225, RGD:8553232, RGD:8553227 NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
X-linked cone-rod dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: X-linked cone-rod dystrophy 3
CTD Direct Evidence: marker/mechanism
DNA:mutation:intron: IVS28¿¿¿1 GCGTC>TGG(human) 		OMIM
ClinVar
CTD
RGD		 PMID:9662399 PMID:11281458 PMID:15897456 PMID:16199547 PMID:17525176 More... RGD:13782380 NCBI chr  X:17,539,992...17,568,308
Ensembl chr  X:14,868,024...14,896,413 		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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:1733835 PMID:8673101 PMID:10094550 PMID:14627685 PMID:16055928 More... NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    sensory system disease 7373
      eye disease 3730
        fundus dystrophy 786
          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 2
          RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 17
          RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 1
          Reticular Pigmentary Retinal Dystrophy of Posterior Pole 0
          Retinal Dystrophy and Microvillus Inclusion Disease 1
          Retinal Dystrophy and Obesity 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 + 108
          dominant pericentral pigmentary retinopathy 0
          dystrophies primarily involving the retinal pigment epithelium + 7
          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 + 607
          vitreoretinal dystrophy 0
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      nervous system disease 14362
        Neurologic Manifestations 10461
          sensory system disease 7373
            eye disease 3730
              retinal disease 1461
                retinal degeneration 930
                  fundus dystrophy 786
                    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 2
                    RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES 17
                    RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES 1
                    Reticular Pigmentary Retinal Dystrophy of Posterior Pole 0
                    Retinal Dystrophy and Microvillus Inclusion Disease 1
                    Retinal Dystrophy and Obesity 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 + 108
                    dominant pericentral pigmentary retinopathy 0
                    dystrophies primarily involving the retinal pigment epithelium + 7
                    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 + 607
                    vitreoretinal dystrophy 0
paths to the root