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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 2700049A03Rik RIKEN cDNA 2700049A03 gene ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr12:71,183,627...71,356,273
Ensembl chr12:71,183,622...71,290,077 		JBrowse link
G Abca4 ATP-binding cassette, sub-family A member 4 ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Retinal dystrophy		 ClinVar
RGD		 PMID:248200 PMID:8533764 PMID:9054934 PMID:9295268 PMID:9466990 More... RGD:7829713 NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Abhd12 abhydrolase domain containing 12 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:22938382 PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr 2:150,674,413...150,746,705
Ensembl chr 2:150,674,413...150,746,661 		JBrowse link
G Aco2 aconitase 2, mitochondrial ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27528516 PMID:28492532 PMID:32483926 PMID:34056600 NCBI chr15:81,756,664...81,799,338
Ensembl chr15:81,756,510...81,799,334 		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 NCBI chr 5:50,117,293...50,216,338
Ensembl chr 5:50,117,298...50,216,348 		JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:23462753 More... NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Adipor1 adiponectin receptor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 1:134,343,116...134,361,089
Ensembl chr 1:134,343,116...134,361,089 		JBrowse link
G Agbl5 ATP/GTP binding protein-like 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:31,045,321...31,064,008
Ensembl chr 5:31,046,038...31,064,309 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15322546 PMID:16155189 PMID:16453322 PMID:18054307 PMID:21068128 More... NCBI chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10615133 PMID:10873396 PMID:15249368 PMID:15347646 PMID:20301475 More... NCBI chr11:71,919,527...71,933,184
Ensembl chr11:71,918,789...71,928,335 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11941369 PMID:11941370 PMID:15689433 PMID:16720663 PMID:17594715 More... NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735 		JBrowse link
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 8:3,403,339...3,506,601
Ensembl chr 8:3,403,415...3,506,601 		JBrowse link
G Arl2bp ADP-ribosylation factor-like 2 binding protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:27790702 PMID:28041643 PMID:28492532 PMID:30210231 More... NCBI chr 8:95,393,228...95,401,085
Ensembl chr 8:95,393,228...95,401,053 		JBrowse link
G Arl3 ADP-ribosylation factor-like 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:33748123 NCBI chr19:46,519,548...46,561,621
Ensembl chr19:46,519,535...46,561,637 		JBrowse link
G Arl6 ADP-ribosylation factor-like 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17160889 PMID:20177705 PMID:25741868 PMID:28492532 NCBI chr16:59,433,312...59,459,772
Ensembl chr16:59,433,312...59,459,754 		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 chr 5:108,581,112...108,582,265
Ensembl chr 5:108,581,110...108,582,314 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 9:108,888,815...108,903,192
Ensembl chr 9:108,887,001...108,903,192 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 More... NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656 		JBrowse link
G Bbs10 Bardet-Biedl syndrome 10 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16582908 PMID:20080638 PMID:20120035 PMID:20177705 PMID:20472660 More... NCBI chr10:111,134,540...111,137,597
Ensembl chr10:111,134,540...111,137,588 		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 3:37,366,695...37,383,334
Ensembl chr 3:37,366,703...37,375,602 		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 chr 8:94,794,580...94,825,997
Ensembl chr 8:94,794,582...94,825,556 		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 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791 		JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15137946 PMID:16199547 PMID:16877420 PMID:21209035 PMID:25741868 More... NCBI chr 2:69,477,193...69,497,915
Ensembl chr 2:69,477,515...69,497,915 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12567324 PMID:19402160 PMID:21209035 PMID:23462753 PMID:25741868 More... NCBI chr 3:36,627,291...36,667,639
Ensembl chr 3:36,627,291...36,667,626 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16380913 PMID:20177705 PMID:25741868 PMID:28492532 NCBI chr 9:22,386,819...22,799,579
Ensembl chr 9:22,387,011...22,799,576 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2133066 PMID:9536098 PMID:9662395 PMID:9700209 PMID:10331951 More... NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G C1qtnf5 C1q and tumor necrosis factor related protein 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12140190 PMID:12944416 PMID:15976030 PMID:16199547 PMID:20361016 More... NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,018,542...44,020,484 		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 chr19:4,185,422...4,189,608
Ensembl chr19:4,185,422...4,194,032 		JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9662399 PMID:11281458 PMID:12552565 PMID:17525176 PMID:19578023 More... NCBI chr  X:7,473,342...7,501,435
Ensembl chr  X:7,473,322...7,501,435 		JBrowse link
G Cacna2d4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:119,213,435...119,329,368
Ensembl chr 6:119,213,487...119,329,368 		JBrowse link
G Capn5 calpain 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 7:97,770,766...97,828,148
Ensembl chr 7:97,770,766...97,827,481 		JBrowse link
G Car4 carbonic anhydrase 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17652713 PMID:19211803 PMID:20450258 PMID:25741868 PMID:28492532 More... NCBI chr11:84,848,580...84,856,880
Ensembl chr11:84,848,612...84,856,870 		JBrowse link
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19777577 PMID:25741868 PMID:28492532 NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		JBrowse link
G Cd63 CD63 antigen ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11675386 PMID:20829743 PMID:22815624 PMID:23462753 PMID:28492532 More... NCBI chr10:128,731,577...128,748,691
Ensembl chr10:128,736,858...128,748,691 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11138009 PMID:12075507 PMID:16199547 PMID:18273900 PMID:18429043 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 8:107,237,484...107,283,543
Ensembl chr 8:107,237,523...107,283,929 		JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20087419 PMID:23044944 More... NCBI chr14:36,799,806...36,820,304
Ensembl chr14:36,799,814...36,820,304 		JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:618178 PMID:9326935 PMID:9536098 PMID:9618178 PMID:9760195 More... NCBI chr  X:159,567,241...159,777,673
Ensembl chr  X:159,554,919...159,777,700 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:45,678,244...45,739,984
Ensembl chr 9:45,678,244...45,739,989 		JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28005958 PMID:28492532 NCBI chr 2:155,798,197...155,840,820
Ensembl chr 2:155,798,378...155,840,820 		JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 More... NCBI chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 NCBI chr19:15,933,134...15,962,396
Ensembl chr19:15,933,137...15,962,353 		JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:16199547 PMID:18978954 PMID:19501188 More... NCBI chr 2:79,162,835...79,259,332
Ensembl chr 2:79,160,887...79,287,129 		JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23105016 PMID:25741868 More... NCBI chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739 		JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:10,874,249...10,899,425
Ensembl chr 4:10,874,498...10,899,425 		JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1044764 PMID:1598901 PMID:9067750 PMID:9175730 PMID:9536098 More... NCBI chr  X:111,950,289...112,095,236
Ensembl chr  X:111,950,290...112,095,214 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9311735 PMID:9450775 PMID:10332042 PMID:16291725 PMID:18414213 More... NCBI chr 7:126,170,571...126,184,991
Ensembl chr 7:126,170,379...126,184,989 		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 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		JBrowse link
G Cnga1 cyclic nucleotide gated channel alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7479749 PMID:12362048 PMID:23462753 PMID:24033266 PMID:24154662 More... NCBI chr 5:72,761,039...72,800,095
Ensembl chr 5:72,761,039...72,801,618 		JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 PMID:15743887 More... NCBI chr 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465 		JBrowse link
G Cngb1 cyclic nucleotide gated channel beta 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15557452 PMID:16199547 PMID:21147909 PMID:21987686 PMID:23105016 More... NCBI chr 8:95,965,671...96,033,213
Ensembl chr 8:95,965,673...96,033,213 		JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1347967 PMID:9536098 PMID:10888875 PMID:10958649 PMID:12815043 More... NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623 		JBrowse link
G Cnnm4 cyclin M4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10706362 PMID:11007540 PMID:15895462 PMID:16199547 PMID:16752401 More... NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1427914 PMID:9536098 PMID:10508521 PMID:11231775 PMID:11389483 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9427255 PMID:9792858 PMID:9931337 PMID:10916183 PMID:11139241 More... NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		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 chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		JBrowse link
G Cwc27 CWC27 spliceosome-associated protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28285769 PMID:28492532 NCBI chr13:104,767,648...104,953,649
Ensembl chr13:104,767,648...104,953,650 		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 chr11:116,536,421...116,544,887
Ensembl chr11:116,536,421...116,545,139 		JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15042513 PMID:15937078 PMID:16088246 PMID:16179904 PMID:16199547 More... NCBI chr 8:45,758,838...45,786,200
Ensembl chr 8:45,757,981...45,786,253 		JBrowse link
G D630045J12Rik RIKEN cDNA D630045J12 gene ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:38,100,109...38,231,074
Ensembl chr 6:38,100,109...38,230,944 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:29276052 PMID:31456290 NCBI chr 4:133,696,339...133,728,267
Ensembl chr 4:133,696,339...133,728,229 		JBrowse link
G Dhx38 DEAH-box helicase 38 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:110,274,631...110,292,493
Ensembl chr 8:110,274,643...110,292,493 		JBrowse link
G Dram2 DNA-damage regulated autophagy modulator 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:25983245 PMID:28492532 NCBI chr 3:106,455,114...106,482,657
Ensembl chr 3:106,455,114...106,483,206 		JBrowse link
G Dthd1 death domain containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 5:62,968,999...63,045,661
Ensembl chr 5:62,969,017...63,045,651 		JBrowse link
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10369267 PMID:11384588 PMID:11389162 PMID:12242346 PMID:17666404 More... NCBI chr11:28,803,154...28,876,743
Ensembl chr11:28,803,204...28,876,743 		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:28492532 NCBI chr 9:83,660,745...83,688,358
Ensembl chr 9:83,660,745...83,688,330 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:139,079,898...139,106,046
Ensembl chr 4:139,079,898...139,106,041 		JBrowse link
G Fam161a family with sequence similarity 161, member A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10507729 PMID:20705278 PMID:20705279 PMID:23591405 PMID:24651477 More... NCBI chr11:22,956,725...22,995,743
Ensembl chr11:22,957,531...22,980,788 		JBrowse link
G Fbln5 fibulin 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr12:101,712,820...101,785,541
Ensembl chr12:101,712,824...101,785,314 		JBrowse link
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:25741868 PMID:26467025 More... NCBI chr 1:190,738,029...190,758,387
Ensembl chr 1:190,738,044...190,758,355 		JBrowse link
G Frmd7 FERM domain containing 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr  X:49,980,044...50,032,493
Ensembl chr  X:49,984,057...50,031,587 		JBrowse link
G Fscn2 fascin actin-bundling protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 PMID:16799052 More... NCBI chr11:120,250,991...120,258,999
Ensembl chr11:120,252,360...120,258,994 		JBrowse link
G Fth1 ferritin heavy polypeptide 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2133066 PMID:10788642 PMID:18985398 PMID:20927214 PMID:21273940 More... NCBI chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 7:89,053,574...89,062,341
Ensembl chr 7:89,053,563...89,062,342 		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 5:3,689,961...3,697,936
Ensembl chr 5:3,682,932...3,707,185 		JBrowse link
G Gigyf2 GRB10 interacting GYF protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 1:87,254,653...87,378,532
Ensembl chr 1:87,254,720...87,378,518 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:28492532 NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Gm53191 predicted gene, 53191 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 9:108,887,001...108,903,165
Ensembl chr 9:108,887,001...108,903,192 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 9:107,551,636...107,556,833
Ensembl chr 9:107,551,673...107,556,911 		JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 3:107,994,120...108,008,748
Ensembl chr 3:108,000,105...108,008,748 		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 chr12:78,264,099...78,731,546
Ensembl chr12:78,273,153...78,731,546 		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 chr11:97,222,935...97,243,182
Ensembl chr11:97,222,935...97,242,903 		JBrowse link
G Grm6 glutamate receptor, metabotropic 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11874764 PMID:15781871 PMID:16622103 PMID:19862333 PMID:22008250 More... NCBI chr11:50,741,205...50,757,035
Ensembl chr11:50,741,512...50,757,035 		JBrowse link
G Guca1a guanylate cyclase activator 1a (retina) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9425234 PMID:9651312 PMID:9702199 PMID:15735604 PMID:15790869 More... NCBI chr17:47,705,482...47,724,439
Ensembl chr17:47,705,483...47,711,509 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15452722 PMID:24352742 PMID:25741868 PMID:26161267 PMID:28492532 More... NCBI chr17:47,692,526...47,703,892
Ensembl chr17:47,696,318...47,703,892 		JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8554074 PMID:9618177 PMID:10676808 PMID:10766140 PMID:10951519 More... NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17033958 PMID:17397050 PMID:17576681 More... NCBI chr 8:26,432,495...26,466,704
Ensembl chr 8:26,434,481...26,466,781 		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 chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687 		JBrowse link
G Idh3b isocitrate dehydrogenase 3 (NAD+) beta ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 2:130,121,229...130,126,371
Ensembl chr 2:130,121,229...130,126,467 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:22282595 PMID:22503633 More... NCBI chr17:25,235,056...25,318,461
Ensembl chr17:25,235,059...25,318,469 		JBrowse link
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24140113 PMID:25741868 PMID:26893459 PMID:28492532 PMID:28559085 More... NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		JBrowse link
G Impdh1 inosine monophosphate dehydrogenase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:11875049 PMID:11875050 PMID:15851576 PMID:15882147 More... NCBI chr 6:29,200,435...29,216,363
Ensembl chr 6:29,200,433...29,216,363 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:23993198 PMID:25741868 PMID:28492532 More... NCBI chr 9:80,215,467...80,347,707
Ensembl chr 9:80,220,612...80,347,534 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:20673862 PMID:24876279 More... NCBI chr16:56,019,447...56,094,119
Ensembl chr16:56,024,676...56,094,119 		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 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		JBrowse link
G Iqcb1 IQ calmodulin-binding motif containing 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15723066 PMID:18076122 PMID:20881296 PMID:21220633 PMID:21245082 More... NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083 		JBrowse link
G Itga4 integrin alpha 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467 		JBrowse link
G Jag1 jagged 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11180599 PMID:28492532 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 1:87,312,299...87,322,451
Ensembl chr 1:87,314,085...87,322,451 		JBrowse link
G Kcnv2 potassium channel, subfamily V, member 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16909397 PMID:17896311 PMID:18235024 PMID:18400204 PMID:21558291 More... NCBI chr19:27,299,461...27,314,579
Ensembl chr19:27,299,988...27,314,579 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 PMID:30452590 NCBI chr19:37,364,830...37,410,311
Ensembl chr19:37,364,851...37,410,307 		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 2:146,697,743...146,812,018
Ensembl chr 2:146,697,784...146,812,017 		JBrowse link
G Klhl7 kelch-like 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19520207 PMID:21828050 PMID:25741868 PMID:28041643 PMID:28492532 More... NCBI chr 5:24,305,563...24,368,363
Ensembl chr 5:24,305,603...24,365,790 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:31,409,050...31,410,541
Ensembl chr 5:31,409,035...31,410,546 		JBrowse link
G Lca5 Leber congenital amaurosis 5 (human) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8571951 PMID:16199547 PMID:17546029 PMID:19503738 PMID:20301475 More... NCBI chr 9:83,273,408...83,325,047
Ensembl chr 9:83,272,346...83,323,180 		JBrowse link
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:82,799,889...82,811,281
Ensembl chr 3:82,799,886...82,811,280 		JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28041643 PMID:28492532 NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409 		JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11719191 PMID:16252235 PMID:25711638 PMID:25741868 PMID:27208204 More... NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564 		JBrowse link
G Mak male germ cell-associated kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:21148103 PMID:21825139 PMID:24938718 PMID:25324289 More... NCBI chr13:41,178,483...41,233,182
Ensembl chr13:41,178,484...41,233,182 		JBrowse link
G Mertk MER proto-oncogene tyrosine kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:11062461 PMID:11727200 PMID:15111602 PMID:16199547 More... NCBI chr 2:128,540,836...128,645,082
Ensembl chr 2:128,540,876...128,644,814 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12140190 PMID:12944416 PMID:15976030 PMID:16199547 PMID:20361016 More... NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19177532 PMID:25227500 PMID:25333361 PMID:25741868 PMID:28041643 More... NCBI chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		JBrowse link
G Mkks McKusick-Kaufman syndrome ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10802661 PMID:10973251 PMID:11567139 PMID:18094050 PMID:20177705 More... NCBI chr 2:136,715,700...136,733,422
Ensembl chr 2:136,715,700...136,733,309 		JBrowse link
G Mmachc methylmalonic aciduria cblC type, with homocystinuria ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16311595 PMID:19370762 PMID:24210589 PMID:25398587 PMID:25741868 More... NCBI chr 4:116,559,631...116,565,582
Ensembl chr 4:116,559,476...116,565,603 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:114,582,324...114,598,652
Ensembl chr 5:114,582,330...114,598,652 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 PMID:9259201 More... NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Nek2 NIMA (never in mitosis gene a)-related expressed kinase 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:191,553,622...191,565,161
Ensembl chr 1:191,553,556...191,565,162 		JBrowse link
G Neurod1 neurogenic differentiation 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:79,282,981...79,286,980
Ensembl chr 2:79,282,865...79,287,095 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 More... NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659 		JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:15776426 PMID:21068128 PMID:21546380 PMID:25741868 PMID:28492532 NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 PMID:15453866 More... NCBI chr 9:59,850,054...59,868,117
Ensembl chr 9:59,850,054...59,867,942 		JBrowse link
G Nrl neural retina leucine zipper gene ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11385710 PMID:11879142 PMID:15591106 PMID:15994872 PMID:17335001 More... NCBI chr14:55,756,973...55,762,438
Ensembl chr14:55,756,435...55,762,438 		JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11062471 PMID:19578023 PMID:25741868 PMID:28492532 NCBI chr  X:13,327,097...13,359,059
Ensembl chr  X:13,332,349...13,355,552 		JBrowse link
G Oat ornithine aminotransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1609808 PMID:1737786 PMID:3339136 PMID:16199547 PMID:22674428 More... NCBI chr 7:132,159,204...132,178,127
Ensembl chr 7:132,159,207...132,178,127 		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:165,171,503...165,223,704
Ensembl chr  X:165,173,029...165,223,700 		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:11440988 PMID:11440989 More... NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17541950 PMID:25741868 PMID:28492532 NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276 		JBrowse link
G Pax2 paired box 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28041643 PMID:28492532 NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,735,057...44,826,310 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20398886 PMID:20811058 PMID:21412943 PMID:23105016 PMID:24339724 More... NCBI chr17:72,050,919...72,059,904
Ensembl chr17:72,050,550...72,059,889 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11398101 PMID:11487575 PMID:14570705 PMID:22815625 PMID:23451239 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Pde6a phosphodiesterase 6A, cGMP-specific, rod, alpha ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7493036 PMID:9536098 PMID:10393062 PMID:16199547 PMID:17110911 More... NCBI chr18:61,353,546...61,426,698
Ensembl chr18:61,353,387...61,422,995 		JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:3203739 PMID:7724547 PMID:8394174 PMID:8595886 PMID:9238087 More... NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263 		JBrowse link
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:19887631 PMID:23776498 PMID:25741868 PMID:26103963 More... NCBI chr19:38,121,220...38,172,391
Ensembl chr19:38,121,229...38,172,406 		JBrowse link
G Pde6g phosphodiesterase 6G, cGMP-specific, rod, gamma ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr11:120,338,433...120,344,326
Ensembl chr11:120,338,431...120,344,326 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:10384394 More... NCBI chr 5:3,646,066...3,687,230
Ensembl chr 5:3,646,066...3,687,232 		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 chr17:47,022,402...47,036,469
Ensembl chr17:47,022,389...47,036,467 		JBrowse link
G Phf3 PHD finger protein 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 PMID:21069908 More... NCBI chr 1:30,841,417...30,912,989
Ensembl chr 1:30,841,420...30,913,002 		JBrowse link
G Phyh phytanoyl-CoA hydroxylase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9326940 PMID:10767344 PMID:11555634 PMID:14974078 PMID:16199547 More... NCBI chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr11:71,938,354...72,026,715
Ensembl chr11:71,938,354...72,026,604 		JBrowse link
G Pnpla6 patatin-like phospholipase domain containing 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267 		JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25018096 PMID:28492532 PMID:29220607 NCBI chr10:98,942,918...99,033,936
Ensembl chr10:98,942,898...99,033,936 		JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12588800 PMID:12849864 PMID:19299310 PMID:20816175 PMID:21447391 More... NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		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 chr11:116,544,603...116,559,224
Ensembl chr11:116,544,360...116,559,215 		JBrowse link
G Prdm13 PR domain containing 13 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 4:21,675,865...21,685,963
Ensembl chr 4:21,677,480...21,685,963 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Prpf3 pre-mRNA processing factor 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11773002 PMID:15085354 PMID:17932117 PMID:20309403 PMID:20811066 More... NCBI chr 3:95,737,436...95,763,197
Ensembl chr 3:95,737,436...95,763,197 		JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8808602 PMID:9536098 PMID:11545739 PMID:16199547 PMID:16708387 More... NCBI chr 7:3,632,984...3,645,484
Ensembl chr 7:3,632,984...3,645,485 		JBrowse link
G Prpf4 pre-mRNA processing factor 4 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 4:62,327,002...62,345,227
Ensembl chr 4:62,327,034...62,345,227 		JBrowse link
G Prpf6 pre-mRNA splicing factor 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:25356976 PMID:25741868 PMID:28492532 More... NCBI chr 2:181,243,112...181,297,454
Ensembl chr 2:181,233,661...181,297,453 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11468273 PMID:11910553 PMID:12714658 PMID:16799052 PMID:17061239 More... NCBI chr11:75,377,603...75,400,273
Ensembl chr11:75,377,642...75,400,275 		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:1427912 PMID:1684223 PMID:4142662 PMID:7493155 PMID:7519821 More... RGD:8553224 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24961627 PMID:25741868 PMID:28492532 PMID:28967191 PMID:32781272 NCBI chr  X:139,357,352...139,376,889
Ensembl chr  X:139,357,362...139,376,889 		JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr 7:89,156,988...89,176,399
Ensembl chr 7:89,156,991...89,176,395 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr 5:41,782,316...41,865,535
Ensembl chr 5:41,782,319...41,865,500 		JBrowse link
G Rbp3 retinol binding protein 3, interstitial ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9614228 PMID:19074801 PMID:23105016 PMID:24963161 PMID:25741868 More... NCBI chr14:33,675,960...33,686,176
Ensembl chr14:33,675,960...33,686,173 		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 chr12:79,255,687...79,269,438
Ensembl chr12:79,255,688...79,269,439 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:11675386 PMID:20829743 PMID:22815624 PMID:23462753 PMID:24603341 More... NCBI chr10:128,749,457...128,755,906
Ensembl chr10:128,749,462...128,758,757 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr10:80,165,831...80,172,275
Ensembl chr10:80,165,787...80,172,275 		JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10581022 PMID:25741868 PMID:27748892 PMID:28041643 PMID:28492532 NCBI chr14:36,756,866...36,770,971
Ensembl chr14:36,756,866...36,770,921 		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 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		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:36498982 NCBI chr 7:108,633,475...108,682,538
Ensembl chr 7:108,633,519...108,682,538 		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:25741868 PMID:27176872 More... NCBI chr 1:22,356,196...22,845,239
Ensembl chr 1:22,356,475...22,845,203 		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 7:79,024,613...79,041,989
Ensembl chr 7:79,024,618...79,036,796 		JBrowse link
G Rlig1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Rom1 rod outer segment membrane protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7904211 PMID:8202715 PMID:8595413 PMID:9331261 PMID:16799052 More... NCBI chr19:8,904,746...8,906,720
Ensembl chr19:8,904,755...8,906,720 		JBrowse link
G Rp1 retinitis pigmentosa 1 (human) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1783394 PMID:8931712 PMID:10391211 PMID:10391212 PMID:10401003 More... NCBI chr 1:4,185,896...4,479,508
Ensembl chr 1:4,069,780...4,479,464 		JBrowse link
G Rp1l1 retinitis pigmentosa 1 homolog like 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:20826268 PMID:22504327 PMID:23281133 PMID:23619761 PMID:23745001 More... NCBI chr14:64,229,880...64,270,955
Ensembl chr14:64,229,955...64,272,474 		JBrowse link
G Rp2 retinitis pigmentosa 2 homolog ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 More... NCBI chr  X:20,230,778...20,271,873
Ensembl chr  X:20,230,720...20,271,892 		JBrowse link
G Rp9 retinitis pigmentosa 9 (human) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:28492532 NCBI chr 9:22,359,607...22,379,652
Ensembl chr 9:22,322,343...22,381,039 		JBrowse link
G Rpe65 retinal pigment epithelium 65 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy		 CTD
ClinVar		 PMID:9326941 PMID:9501220 PMID:9536098 PMID:9843205 PMID:10766140 More... NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy		 CTD
ClinVar		 PMID:8673101 PMID:8817343 PMID:9326322 PMID:9399904 PMID:9536098 More... NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal dystrophy		 CTD
ClinVar		 PMID:11528500 PMID:12920076 PMID:15024725 PMID:16199547 PMID:23105016 More... NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:618178 PMID:9326935 PMID:9536098 PMID:9618178 PMID:9760195 More... NCBI chr  X:159,548,815...159,584,800
Ensembl chr  X:159,551,009...159,582,659 		JBrowse link
G Sag S-antigen, retina and pineal gland (arrestin) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:7670478 PMID:9452120 PMID:9501883 PMID:9565049 PMID:15234147 More... NCBI chr 1:87,731,402...87,772,880
Ensembl chr 1:87,731,402...87,772,880 		JBrowse link
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:26103963 PMID:28492532 PMID:32483926 NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		JBrowse link
G Sgsh N-sulfoglucosamine sulfohydrolase (sulfamidase) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9401012 PMID:15146460 PMID:18407553 PMID:21061399 PMID:21671382 More... NCBI chr11:119,234,315...119,246,336
Ensembl chr11:119,234,251...119,246,362 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
G Slc24a1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12037007 PMID:20850105 PMID:25741868 PMID:26822852 PMID:28492532 NCBI chr 9:64,830,143...64,858,902
Ensembl chr 9:64,830,143...64,858,889 		JBrowse link
G Slc7a14 solute carrier family 7 (cationic amino acid transporter, y+ system), member 14 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24670872 PMID:25741868 PMID:28492532 NCBI chr 3:31,257,003...31,364,712
Ensembl chr 3:31,257,007...31,364,527 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein 200 (U5) ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16612614 PMID:19878916 PMID:21618346 PMID:24302620 PMID:24319334 More... NCBI chr 2:127,050,306...127,082,373
Ensembl chr 2:127,050,306...127,082,371 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:19268277 PMID:20104588 PMID:20301475 PMID:21310915 PMID:21602930 More... NCBI chr12:98,594,169...98,636,078
Ensembl chr12:98,594,416...98,636,074 		JBrowse link
G Spp2 secreted phosphoprotein 2 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:88,334,688...88,356,022
Ensembl chr 1:88,334,683...88,354,160 		JBrowse link
G Syn3 synapsin III ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23023527 PMID:26493035 PMID:27601084 PMID:28492532 PMID:28559085 More... NCBI chr10:85,884,610...86,336,730
Ensembl chr10:85,890,989...86,334,760 		JBrowse link
G Tead3 TEA domain family member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9462750 PMID:25741868 PMID:26427415 PMID:28492532 PMID:32531858 NCBI chr17:28,550,645...28,569,779
Ensembl chr17:28,550,645...28,569,791 		JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23023527 PMID:26493035 PMID:27601084 PMID:28492532 PMID:28559085 More... NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370 		JBrowse link
G Topors topoisomerase I binding, arginine/serine-rich ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:17924349 PMID:18509552 PMID:22581970 PMID:23950152 PMID:25741868 More... NCBI chr 4:40,259,606...40,269,841
Ensembl chr 4:40,259,601...40,269,850 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 NCBI chr 9:108,887,000...108,888,791
Ensembl chr 9:108,887,001...108,888,802 		JBrowse link
G Trnt1 tRNA nucleotidyl transferase, CCA-adding, 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:25193871 PMID:25741868 PMID:27389523 PMID:27531075 More... NCBI chr 6:106,746,099...106,759,435
Ensembl chr 6:106,746,081...106,759,435 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16199547 PMID:19896109 PMID:19896113 PMID:19966281 PMID:20300565 More... NCBI chr 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523 		JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12588800 PMID:12849864 PMID:19299310 PMID:20816175 PMID:21447391 More... NCBI chr 4:116,019,078...116,024,818
Ensembl chr 4:116,019,066...116,024,798 		JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:17576681 PMID:20159112 PMID:21334594 PMID:28492532 NCBI chr 6:21,771,390...21,879,557
Ensembl chr 6:21,771,394...21,852,514 		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 2:66,014,131...66,087,144
Ensembl chr 2:66,014,671...66,086,961 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:16308660 PMID:17576681 PMID:20177705 PMID:21044901 More... NCBI chr12:98,886,796...98,949,509
Ensembl chr12:98,886,833...98,949,497 		JBrowse link
G Ttll5 tubulin tyrosine ligase-like family, member 5 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24791901 PMID:25741868 PMID:27162334 PMID:28173158 PMID:28492532 More... NCBI chr12:85,871,417...86,100,534
Ensembl chr12:85,871,433...86,108,667 		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:36498982 NCBI chr 7:108,610,087...108,633,666
Ensembl chr 7:108,549,545...108,633,667 		JBrowse link
G Tulp1 TUB like protein 1 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 More... NCBI chr17:28,570,489...28,584,190
Ensembl chr17:28,570,489...28,584,196 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Vcan versican ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:16043844 PMID:16877430 PMID:21738396 PMID:22739342 PMID:28492532 NCBI chr13:89,803,429...89,891,146
Ensembl chr13:89,803,431...89,890,628 		JBrowse link
G Vmn2r17 vomeronasal 2, receptor 17 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:2033377 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18836446 More... NCBI chr 5:109,567,879...109,601,253
Ensembl chr 5:109,567,554...109,606,325 		JBrowse link
G Vps13b vacuolar protein sorting 13B ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375 		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 chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:24033266 PMID:27208204 PMID:28492532 NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		JBrowse link
G Zdhhc24 zinc finger, DHHC domain containing 24 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:12920096 More... NCBI chr19:4,928,696...4,935,425
Ensembl chr19:4,928,696...4,935,425 		JBrowse link
G Zfp408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:23716654 PMID:25741868 PMID:25882705 PMID:28492532 PMID:29721947 More... NCBI chr 2:91,473,101...91,480,372
Ensembl chr 2:91,474,014...91,480,136 		JBrowse link
G Zfp454 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 chr11:50,763,545...50,778,463
Ensembl chr11:50,763,547...50,778,478 		JBrowse link
G Zfp513 zinc finger protein 513 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:31,356,325...31,360,007
Ensembl chr 5:31,356,325...31,359,647 		JBrowse link
G Zfyve26 zinc finger, FYVE domain containing 26 ISO ClinVar Annotator: match by term: Retinal dystrophy ClinVar PMID:9536098 PMID:15258582 PMID:15322982 PMID:16269441 PMID:17389517 More... NCBI chr12:79,279,120...79,343,102
Ensembl chr12:79,279,120...79,343,078 		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 susceptibility ISO
IAGP
IMP		 ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome
DNA:frameshift mutations, nonsense mutations
OMIM:203800
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations, nonsense mutations, missense mutations:multiple
DNA:nonsense mutations, frameshift mutation, missense mutation:multiple		 OMIM
ClinVar
RGD
MouseDO
CTD		 PMID:9063741 PMID:9409865 PMID:9536098 PMID:11941369 PMID:11941370 More... RGD:1601169, RGD:8696018, RGD:1601169, RGD:8696016, RGD:8696015, RGD:8696013 NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735 		JBrowse link
G Cct7 chaperonin containing TCP1 subunit 7 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,428,487...85,445,459
Ensembl chr 6:85,428,496...85,445,457 		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 1:60,948,184...60,954,991
Ensembl chr 1:60,926,159...60,954,991 		JBrowse link
G Egr4 early growth response 4 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,488,103...85,490,571
Ensembl chr 6:85,488,103...85,490,571 		JBrowse link
G Emx1 empty spiracles homeobox 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,164,913...85,181,445
Ensembl chr 6:85,164,420...85,181,444 		JBrowse link
G Fbxo41 F-box protein 41 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,446,556...85,479,976
Ensembl chr 6:85,446,556...85,479,976 		JBrowse link
G Noto notochord homeobox ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,400,851...85,405,859
Ensembl chr 6:85,400,868...85,405,859 		JBrowse link
G Pradc1 protease-associated domain containing 1 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,423,767...85,428,969
Ensembl chr 6:85,423,792...85,428,952 		JBrowse link
G Rab11fip5 RAB11 family interacting protein 5 (class I) ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,311,944...85,351,663
Ensembl chr 6:85,311,944...85,351,616 		JBrowse link
G Sfxn5 sideroflexin 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,190,031...85,310,488
Ensembl chr 6:85,190,031...85,310,404 		JBrowse link
G Smyd5 SET and MYND domain containing 5 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,408,958...85,423,411
Ensembl chr 6:85,408,971...85,423,417 		JBrowse link
G Spr sepiapterin reductase ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:28492532 NCBI chr 6:85,110,662...85,114,746
Ensembl chr 6:85,107,158...85,114,748 		JBrowse link
G Tango2 transport and golgi organization 2 ISO ClinVar Annotator: match by term: Alstrom syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:18,118,689...18,165,962
Ensembl chr16:18,118,689...18,165,967 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Alstrom's syndrome ClinVar PMID:23975875 PMID:25589632 PMID:28492532 NCBI chr 2:76,534,324...76,812,901
Ensembl chr 2:76,534,324...76,812,891 		JBrowse link
Amaurosis Hypertrichosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin M4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845 		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: VRCP autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10798642 PMID:10854112 PMID:11585313 PMID:12543751 More... NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Fth1 ferritin heavy polypeptide 1 ISO ClinVar Annotator: match by term: Autosomal dominant vitreoretinochoroidopathy | ClinVar Annotator: match by term: VRCP autosomal dominant ClinVar PMID:14615048 PMID:25741868 PMID:28492532 PMID:28687848 NCBI chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462 		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
IAGP		 ClinVar Annotator: match by term: Bothnia retinal dystrophy | ClinVar Annotator: match by term: VASTERBOTTEN DYSTROPHY
CTD Direct Evidence: marker/mechanism
OMIM:607475		 OMIM
ClinVar
CTD
MouseDO		 PMID:10102298 PMID:10102299 PMID:11449319 PMID:12536144 PMID:15234312 More... NCBI chr 7:79,024,613...79,041,989
Ensembl chr 7:79,024,618...79,036,796 		JBrowse link
Boucher-Neuhauser syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcoln1 mucolipin 1 ISO ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:3,550,458...3,565,232
Ensembl chr 8:3,550,457...3,565,232 		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:3963113 PMID:8053762 PMID:9321767 PMID:16199547 PMID:18313024 More... NCBI chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267 		JBrowse link
Concentric Annular Macular Dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family 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 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		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 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Impg1 interphotoreceptor matrix proteoglycan 1 ISO ClinVar Annotator: match by term: Benign concentric annular macular dystrophy | ClinVar Annotator: match by term: IMPG1-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4412179 PMID:14691150 PMID:16199547 PMID:23993198 PMID:25741868 More... NCBI chr 9:80,215,467...80,347,707
Ensembl chr 9:80,220,612...80,347,534 		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, cGMP specific, cone, alpha prime 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:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chr19:38,121,220...38,172,391
Ensembl chr19:38,121,229...38,172,406 		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 M4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy amelogenesis imperfecta ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845 		JBrowse link
cone-rod dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 2700049A03Rik RIKEN cDNA 2700049A03 gene ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:20301500 PMID:24033266 PMID:25741868 PMID:25807282 PMID:26026149 More... NCBI chr12:71,183,627...71,356,273
Ensembl chr12:71,183,622...71,290,077 		JBrowse link
G Abca4 ATP-binding cassette, sub-family A member 4 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy
ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: 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:9054934 PMID:9295268 PMID:9466990 PMID:9536098 PMID:9666097 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Acbd5 acyl-Coenzyme A binding domain containing 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:28492532 NCBI chr 2:22,958,189...23,004,525
Ensembl chr 2:22,958,179...23,005,570 		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 chr 8:25,439,627...25,507,138
Ensembl chr 8:25,439,627...25,506,943 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:15322546 PMID:16155189 PMID:16453322 PMID:25525159 PMID:25616960 More... NCBI chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:17594715 PMID:25741868 PMID:26047050 PMID:26077327 PMID:28492532 More... NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735 		JBrowse link
G Arl6 ADP-ribosylation factor-like 6 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr16:59,433,312...59,459,772
Ensembl chr16:59,433,312...59,459,754 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		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 chr19:4,185,422...4,189,608
Ensembl chr19:4,185,422...4,194,032 		JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 PMID:30576320 PMID:30718709 PMID:36909829 NCBI chr  X:7,473,342...7,501,435
Ensembl chr  X:7,473,322...7,501,435 		JBrowse link
G Cacna2d4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 6:119,213,435...119,329,368
Ensembl chr 6:119,213,487...119,329,368 		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 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23044944 PMID:23233793 More... NCBI chr14:36,799,806...36,820,304
Ensembl chr14:36,799,814...36,820,304 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		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 chr19:15,933,134...15,962,396
Ensembl chr19:15,933,137...15,962,353 		JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:14681825 PMID:15708351 PMID:16199547 PMID:19578027 PMID:21151602 More... NCBI chr 2:79,162,835...79,259,332
Ensembl chr 2:79,160,887...79,287,129 		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 chr 8:96,146,867...96,161,716
Ensembl chr 8:96,146,877...96,161,497 		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 chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739 		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 4:10,874,249...10,899,425
Ensembl chr 4:10,874,498...10,899,425 		JBrowse link
G Cln3 CLN3 lysosomal/endosomal transmembrane protein, battenin ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr 7:126,170,571...126,184,991
Ensembl chr 7:126,170,379...126,184,989 		JBrowse link
G Cnga1 cyclic nucleotide gated channel alpha 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:7479749 PMID:24033266 PMID:24265693 PMID:25326637 PMID:25741868 More... NCBI chr 5:72,761,039...72,800,095
Ensembl chr 5:72,761,039...72,801,618 		JBrowse link
G Cnga3 cyclic nucleotide gated channel 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 1:37,257,317...37,302,465
Ensembl chr 1:37,253,515...37,302,465 		JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 More... NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated 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:36909829 PMID:23767994 RGD:13451130 NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		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 ClinVar PMID:9390563 PMID:9427255 PMID:10874321 PMID:10916183 PMID:11748859 More... NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Dram2 DNA-damage regulated autophagy modulator 2 ISO
IAGP		 ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar
MouseDO		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:36909829 NCBI chr 3:106,455,114...106,482,657
Ensembl chr 3:106,455,114...106,483,206 		JBrowse link
G Fam161a family with sequence similarity 161, member A ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:20705278 PMID:20705279 PMID:24651477 PMID:25097241 PMID:25525159 More... NCBI chr11:22,956,725...22,995,743
Ensembl chr11:22,957,531...22,980,788 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphotransferase, gamma subunit ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:15060128 PMID:19370764 PMID:20301784 PMID:25741868 PMID:28492532 NCBI chr17:25,451,324...25,459,302
Ensembl chr17:25,452,305...25,459,098 		JBrowse link
G Gphn gephyrin 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 chr12:78,264,099...78,731,546
Ensembl chr12:78,273,153...78,731,546 		JBrowse link
G Guca1a guanylate cyclase activator 1a (retina) 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 chr17:47,705,482...47,724,439
Ensembl chr17:47,705,483...47,711,509 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:24352742 PMID:25741868 NCBI chr17:47,692,526...47,703,892
Ensembl chr17:47,696,318...47,703,892 		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:24875811 More... NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G Ift122 intraflagellar transport 122 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:115,830,340...115,903,660
Ensembl chr 6:115,830,431...115,903,660 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr16:56,019,447...56,094,119
Ensembl chr16:56,024,676...56,094,119 		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 2:26,286,261...26,299,313
Ensembl chr 2:26,286,261...26,299,215 		JBrowse link
G Itga4 integrin alpha 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467 		JBrowse link
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 NCBI chr 3:82,799,889...82,811,281
Ensembl chr 3:82,799,886...82,811,280 		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 chr18:66,990,776...66,993,558
Ensembl chr18:66,990,775...66,993,577 		JBrowse link
G Mfsd8 major facilitator superfamily domain containing 8 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:36909829 NCBI chr 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		JBrowse link
G Mir103-2 microRNA 103-2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr 2:131,129,972...131,130,057
Ensembl chr 2:131,129,972...131,130,057 		JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969 		JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G mt-Co2 cytochrome c oxidase II, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696 		JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390 		JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
G mt-Nd2 NADH dehydrogenase 2, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,914...4,951
Ensembl chr MT:3,914...4,951 		JBrowse link
G mt-Nd3 NADH dehydrogenase 3, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,459...9,806
Ensembl chr MT:9,459...9,806 		JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544 		JBrowse link
G mt-Nd4l NADH dehydrogenase 4L, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,877...10,173
Ensembl chr MT:9,877...10,173 		JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565 		JBrowse link
G mt-Ta tRNA alanine, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,018...5,086
Ensembl chr MT:5,018...5,086 		JBrowse link
G mt-Tc tRNA cysteine, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,192...5,257
Ensembl chr MT:5,192...5,257 		JBrowse link
G mt-Td tRNA aspartic acid, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:6,942...7,011
Ensembl chr MT:6,942...7,011 		JBrowse link
G mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458 		JBrowse link
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
G mt-Ti tRNA isoleucine, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774 		JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764 		JBrowse link
G mt-Tm tRNA methionine, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,845...3,913
Ensembl chr MT:3,845...3,913 		JBrowse link
G mt-Tn tRNA asparagine, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,089...5,159
Ensembl chr MT:5,089...5,159 		JBrowse link
G mt-Tq tRNA glutamine, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,772...3,842
Ensembl chr MT:3,772...3,842 		JBrowse link
G mt-Tr tRNA arginine, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,808...9,875
Ensembl chr MT:9,808...9,875 		JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938 		JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671 		JBrowse link
G mt-Tw tRNA tryptophan, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,950...5,016
Ensembl chr MT:4,950...5,016 		JBrowse link
G mt-Ty tRNA tyrosine, mitochondrial ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326 		JBrowse link
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:26316326 PMID:28492532 NCBI chr 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659 		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 9:59,850,054...59,868,117
Ensembl chr 9:59,850,054...59,867,942 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		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 2:131,103,928...131,141,108
Ensembl chr 2:131,104,415...131,141,108 		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 chr17:72,050,919...72,059,904
Ensembl chr17:72,050,550...72,059,889 		JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:25741868 PMID:30718709 NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263 		JBrowse link
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:28492532 NCBI chr19:38,121,220...38,172,391
Ensembl chr19:38,121,229...38,172,406 		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, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy		 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:71,938,354...72,026,715
Ensembl chr11:71,938,354...72,026,604 		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 chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267 		JBrowse link
G Poc1b POC1 centriolar protein B ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 NCBI chr10:98,942,918...99,033,936
Ensembl chr10:98,942,898...99,033,936 		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:10205271 PMID:16199547 PMID:17605048 PMID:19718270 PMID:20042663 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		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:7493155 PMID:8015786 PMID:8111389 PMID:8302543 PMID:8485575 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		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 chr 5:41,782,316...41,865,535
Ensembl chr 5:41,782,319...41,865,500 		JBrowse link
G Rbp3 retinol binding protein 3, interstitial ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar NCBI chr14:33,675,960...33,686,176
Ensembl chr14:33,675,960...33,686,173 		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 chr12:79,255,687...79,269,438
Ensembl chr12:79,255,688...79,269,439 		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 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
G Rims1 regulating synaptic membrane exocytosis 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant ClinVar PMID:28492532 NCBI chr 1:22,356,196...22,845,239
Ensembl chr 1:22,356,475...22,845,203 		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 chr10:100,408,136...100,425,252
Ensembl chr10:100,408,127...100,426,285 		JBrowse link
G Rpe65 retinal pigment epithelium 65 ISO ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:32581362 NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:25741868 PMID:30718709 NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive | ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:11528500 PMID:16272259 PMID:23105016 PMID:25741868 PMID:28492532 More... NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		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 9:55,457,163...55,845,505
Ensembl chr 9:55,457,163...55,845,403 		JBrowse link
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ISO ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein 200 (U5) ISO ClinVar Annotator: match by term: Rod-cone dystrophy ClinVar PMID:23847139 PMID:25741868 PMID:27735924 PMID:28492532 PMID:28559085 NCBI chr 2:127,050,306...127,082,373
Ensembl chr 2:127,050,306...127,082,371 		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 6:40,448,302...40,458,757
Ensembl chr 6:40,448,286...40,461,634 		JBrowse link
G Tbx4 T-box 4 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:15106123 PMID:16199547 PMID:25741868 PMID:28492532 PMID:29631995 More... NCBI chr11:85,777,193...85,806,923
Ensembl chr11:85,777,248...85,806,923 		JBrowse link
G Tlcd3b TLC domain containing 3B IAGP MouseDO NCBI chr 7:126,413,213...126,429,391
Ensembl chr 7:126,396,840...126,429,391 		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 chr19:18,707,566...18,869,885
Ensembl chr19:18,727,347...18,869,875 		JBrowse link
G Ttll5 tubulin tyrosine ligase-like family, member 5 ISO ClinVar Annotator: match by term: Cone-rod dystrophy ClinVar PMID:16199547 PMID:24791901 PMID:25741868 PMID:27162334 PMID:28492532 More... NCBI chr12:85,871,417...86,100,534
Ensembl chr12:85,871,433...86,108,667 		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 chr11:78,234,321...78,239,990
Ensembl chr11:78,234,308...78,239,990 		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 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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		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, cGMP, rod receptor, beta polypeptide ISO Retinal atrophy - Cone-rod dystrophy 1 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:30050836 PMID:38028226 NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263 		JBrowse link
cone-rod dystrophy 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 10
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199541 PMID:22956603 PMID:23360997 PMID:24033266 PMID:25307848 More... NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		JBrowse link
cone-rod dystrophy 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 12 ClinVar PMID:25741868 PMID:31497877 NCBI chr 8:70,945,798...70,956,728
Ensembl chr 8:70,945,808...70,956,731 		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:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		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 chr14:52,435,608...52,495,499
Ensembl chr14:52,435,608...52,495,237 		JBrowse link
G Hnrnpc heterogeneous nuclear ribonucleoprotein C ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:28492532 NCBI chr14:52,310,834...52,341,462
Ensembl chr14:52,310,834...52,341,485 		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 chr14:52,532,298...52,548,555
Ensembl chr14:52,532,298...52,542,585 		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 chr14:52,499,216...52,516,852
Ensembl chr14:52,499,216...52,517,002 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11283794 PMID:11528500 PMID:12920076 PMID:14971589 More... NCBI chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		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 chr14:52,548,634...52,566,127
Ensembl chr14:52,548,629...52,566,219 		JBrowse link
G Supt16 SPT16, facilitates chromatin remodeling subunit ISO ClinVar Annotator: match by term: Cone-rod dystrophy 13 ClinVar PMID:11528500 PMID:23105016 PMID:28492532 NCBI chr14:52,397,876...52,434,696
Ensembl chr14:52,397,871...52,434,873 		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 chr14:52,516,603...52,532,966
Ensembl chr14:52,516,603...52,533,858 		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 channel, voltage-dependent, alpha 2/delta subunit 4 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 6:119,213,435...119,329,368
Ensembl chr 6:119,213,487...119,329,368 		JBrowse link
G Cimip3 ciliary microtubule inner protein 3 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:25741868 NCBI chr17:47,723,659...47,748,690
Ensembl chr17:47,723,659...47,748,301 		JBrowse link
G Guca1a guanylate cyclase activator 1a (retina) ISO ClinVar Annotator: match by term: Cone dystrophy 3 | ClinVar Annotator: match by term: Cone-rod dystrophy 14
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9425045 PMID:9425234 PMID:9651312 PMID:9702199 PMID:11146732 More... NCBI chr17:47,705,482...47,724,439
Ensembl chr17:47,705,483...47,711,509 		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 chr17:47,692,526...47,703,892
Ensembl chr17:47,696,318...47,703,892 		JBrowse link
G Kcnv2 potassium channel, subfamily V, member 2 ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar PMID:23885164 PMID:25741868 PMID:28492532 NCBI chr19:27,299,461...27,314,579
Ensembl chr19:27,299,988...27,314,579 		JBrowse link
G Pde6h phosphodiesterase 6H, cGMP-specific, cone, gamma ISO ClinVar Annotator: match by term: Cone dystrophy 3 ClinVar NCBI chr 6:136,929,216...136,940,483
Ensembl chr 6:136,900,830...136,945,863 		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 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		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 chr14:36,799,806...36,820,304
Ensembl chr14:36,799,814...36,820,304 		JBrowse link
G Rpe65 retinal pigment epithelium 65 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 15 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		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
IAGP		 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 4:10,874,249...10,899,425
Ensembl chr 4:10,874,498...10,899,425 		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
IAGP		 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 chr 5:41,782,316...41,865,535
Ensembl chr 5:41,782,319...41,865,500 		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 family, member 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 NCBI chr12:85,871,417...86,100,534
Ensembl chr12:85,871,433...86,108,667 		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 chr11:71,919,527...71,933,184
Ensembl chr11:71,918,789...71,928,335 		JBrowse link
G Crx cone-rod homeobox ISO
IAGP		 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:9390563 PMID:9427255 PMID:9792858 PMID:10766140 More... NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Iqcb1 IQ calmodulin-binding motif containing 1 ISO Retinal atrophy - Cone-rod dystrophy 2 OMIA PMID:15064680 PMID:22065099 PMID:24045995 PMID:27506978 PMID:30050836 More... NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083 		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 chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Rhox2a reproductive homeobox 2A ISO ClinVar Annotator: match by term: Cone-rod dystrophy 2 ClinVar NCBI chr  X:36,508,645...36,513,343
Ensembl chr  X:36,508,629...36,513,339 		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 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24945461 PMID:25018096 PMID:25044745 More... NCBI chr10:98,942,918...99,033,936
Ensembl chr10:98,942,898...99,033,936 		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 3:106,455,114...106,482,657
Ensembl chr 3:106,455,114...106,483,206 		JBrowse link
cone-rod dystrophy 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930451I11Rik RIKEN cDNA 4930451I11 gene ISO ClinVar Annotator: match by term: Cone-rod dystrophy 22 ClinVar PMID:33077892 NCBI chr 7:126,429,640...126,430,712
Ensembl chr 7:126,429,640...126,430,811 		JBrowse link
G Tlcd3b TLC domain containing 3B ISO ClinVar Annotator: match by term: Cone-rod dystrophy 22 OMIM
ClinVar		 PMID:33077892 NCBI chr 7:126,413,213...126,429,391
Ensembl chr 7:126,396,840...126,429,391 		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 chr11:78,234,321...78,239,990
Ensembl chr11:78,234,308...78,239,990 		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, sub-family A member 4 ISO
IAGP		 ClinVar Annotator: match by term: Cone-rod dystrophy 3
CTD Direct Evidence: marker/mechanism
OMIM:604116		 OMIM
ClinVar
CTD
MouseDO		 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9490294 PMID:9503029 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO Retinal atrophy - Cone-rod dystrophy 3 OMIA PMID:20691256 PMID:20806078 PMID:22065099 NCBI chr 8:25,439,627...25,507,138
Ensembl chr 8:25,439,627...25,506,943 		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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		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 chr11:71,932,867...71,938,197
Ensembl chr11:71,932,858...71,938,196 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8586428 PMID:17377520 PMID:22405330 PMID:25472526 PMID:25741868 More... NCBI chr11:71,938,354...72,026,715
Ensembl chr11:71,938,354...72,026,604 		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 chr11:69,047,898...69,060,617
Ensembl chr11:69,047,815...69,060,618 		JBrowse link
G Alox8 arachidonate 8-lipoxygenase ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr11:69,074,711...69,088,669
Ensembl chr11:69,074,758...69,088,669 		JBrowse link
G Aloxe3 arachidonate lipoxygenase 3 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr11:69,016,243...69,039,941
Ensembl chr11:69,016,722...69,039,941 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Cntrob centrobin, centrosomal BRCA2 interacting protein ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr11:69,188,735...69,214,720
Ensembl chr11:69,190,313...69,214,601 		JBrowse link
G Gucy2e guanylate cyclase 2e ISO
IAGP		 ClinVar Annotator: match by term: Cone-rod dystrophy 6 | ClinVar Annotator: match by term: Retinal cone dystrophy 2
CTD Direct Evidence: marker/mechanism
OMIM:601777		 OMIM
ClinVar
CTD
MouseDO		 PMID:8554074 PMID:8944027 PMID:9536098 PMID:9618177 PMID:9683616 More... NCBI chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G Hes7 hes family bHLH transcription factor 7 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:28492532 NCBI chr11:69,009,778...69,014,880
Ensembl chr11:69,011,230...69,014,881 		JBrowse link
G Kcnv2 potassium channel, subfamily V, member 2 ISO ClinVar Annotator: match by term: Cone-rod dystrophy 6 ClinVar PMID:25741868 NCBI chr19:27,299,461...27,314,579
Ensembl chr19:27,299,988...27,314,579 		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 1:22,356,196...22,845,239
Ensembl chr 1:22,356,475...22,845,203 		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
IAGP		 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 chr 8:25,439,627...25,507,138
Ensembl chr 8:25,439,627...25,506,943 		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 NCBI chr19:15,933,134...15,962,396
Ensembl chr19:15,933,137...15,962,353 		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: Cone-rod dystrophy and hearing loss 1 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr19:15,933,134...15,962,396
Ensembl chr19:15,933,137...15,962,353 		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:28492532 More... NCBI chr 2:155,798,197...155,840,820
Ensembl chr 2:155,798,378...155,840,820 		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 chr15:39,061,681...39,547,768
Ensembl chr15:39,061,656...39,547,768 		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 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Vps13b vacuolar protein sorting 13B ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9536098 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15498460 More... NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375 		JBrowse link
fundus albipunctatus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd63 CD63 antigen 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 chr10:128,731,577...128,748,691
Ensembl chr10:128,736,858...128,748,691 		JBrowse link
G Mfrp membrane frizzled-related protein IAGP OMIM:136880 MouseDO NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
G Prph2 peripherin 2 ISO 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:8111389 PMID:8485575 PMID:8485576 PMID:8675410 PMID:8994365 More... RGD:8553223 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		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 chr10:128,749,457...128,755,906
Ensembl chr10:128,749,462...128,758,757 		JBrowse link
G Rho rhodopsin ISO 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:1484692 PMID:1833777 PMID:1862076 PMID:1882937 PMID:1924344 More... NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		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 7:79,024,613...79,041,989
Ensembl chr 7:79,024,618...79,036,796 		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:100,317,697...100,342,540
Ensembl chr  X:100,317,636...100,341,071 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28794130 PMID:32214227 NCBI chr 9:55,457,163...55,845,505
Ensembl chr 9:55,457,163...55,845,403 		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 9:44,184,485...44,199,953
Ensembl chr 9:44,184,485...44,199,912 		JBrowse link
G Apoa1 apolipoprotein A-I ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,139,928...46,141,767
Ensembl chr 9:46,139,878...46,141,764 		JBrowse link
G Apoa4 apolipoprotein A-IV ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,152,142...46,154,756
Ensembl chr 9:46,151,994...46,154,757 		JBrowse link
G Apoc3 apolipoprotein C-III ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:46,144,348...46,146,934
Ensembl chr 9:46,144,231...46,146,934 		JBrowse link
G Arcn1 archain 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,653,440...44,679,105
Ensembl chr 9:44,652,861...44,679,142 		JBrowse link
G Arhgef12 Rho guanine nucleotide exchange factor 12 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:42,875,138...43,017,069
Ensembl chr 9:42,875,138...43,018,534 		JBrowse link
G Atp5mg ATP synthase membrane subunit g ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,824,546...44,832,470
Ensembl chr 9:44,823,855...44,832,040 		JBrowse link
G Bace1 beta-site APP cleaving enzyme 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,749,878...45,775,694
Ensembl chr 9:45,749,878...45,775,697 		JBrowse link
G Bcl9l B cell CLL/lymphoma 9-like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,394,103...44,423,203
Ensembl chr 9:44,394,122...44,423,193 		JBrowse link
G C1qtnf5 C1q and tumor necrosis factor related protein 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:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,018,542...44,020,484 		JBrowse link
G C2cd2l C2 calcium-dependent domain containing 2-like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,220,534...44,231,579
Ensembl chr 9:44,220,534...44,231,582 		JBrowse link
G Cbl Casitas B-lineage lymphoma ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,054,273...44,145,556
Ensembl chr 9:44,054,273...44,145,346 		JBrowse link
G Ccdc153 coiled-coil domain containing 153 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,151,961...44,158,240
Ensembl chr 9:44,151,973...44,158,603 		JBrowse link
G Cd3d CD3 antigen, delta polypeptide ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,893,067...44,898,350
Ensembl chr 9:44,893,084...44,898,637 		JBrowse link
G Cd3e CD3 antigen, epsilon polypeptide ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,910,033...44,920,961
Ensembl chr 9:44,910,038...44,920,925 		JBrowse link
G Cd3g CD3 antigen, gamma polypeptide ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,880,870...44,891,729
Ensembl chr 9:44,880,870...44,891,729 		JBrowse link
G Cenatac centrosomal AT-AC splicing factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,321,456...44,329,390
Ensembl chr 9:44,321,456...44,329,866 		JBrowse link
G Cep164 centrosomal protein 164 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,678,244...45,739,984
Ensembl chr 9:45,678,244...45,739,989 		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 9:44,423,084...44,437,741
Ensembl chr 9:44,423,084...44,473,174 		JBrowse link
G Ddx6 DEAD-box helicase 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,514,113...44,552,028
Ensembl chr 9:44,516,189...44,552,028 		JBrowse link
G Dpagt1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,237,314...44,247,374
Ensembl chr 9:44,237,316...44,245,197 		JBrowse link
G Dscaml1 DS cell adhesion molecule like 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,338,735...45,665,011
Ensembl chr 9:45,337,926...45,665,010 		JBrowse link
G Foxr1 forkhead box R1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,345,531...44,352,165
Ensembl chr 9:44,345,070...44,352,433 		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 9:45,311,007...45,321,576
Ensembl chr 9:45,310,967...45,321,576 		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 9:45,280,768...45,307,457
Ensembl chr 9:45,281,483...45,307,457 		JBrowse link
G Grik4 glutamate receptor, ionotropic, kainate 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:42,431,708...42,856,296
Ensembl chr 9:42,429,431...42,855,789 		JBrowse link
G H2ax H2A.X variant histone ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,246,012...44,247,374
Ensembl chr 9:44,245,991...44,247,374 		JBrowse link
G Hinfp histone H4 transcription factor ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,201,509...44,217,003
Ensembl chr 9:44,203,737...44,216,968 		JBrowse link
G Hmbs hydroxymethylbilane synthase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,247,645...44,255,525
Ensembl chr 9:44,247,636...44,255,525 		JBrowse link
G Hyou1 hypoxia up-regulated 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,290,840...44,303,662
Ensembl chr 9:44,290,787...44,303,666 		JBrowse link
G Ift46 intraflagellar transport 46 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,683,074...44,704,011
Ensembl chr 9:44,679,205...44,704,744 		JBrowse link
G Il10ra interleukin 10 receptor, alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,165,135...45,180,447
Ensembl chr 9:45,165,135...45,180,447 		JBrowse link
G Jaml junction adhesion molecule like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,990,451...45,019,829
Ensembl chr 9:44,990,481...45,019,832 		JBrowse link
G Kmt2a lysine (K)-specific methyltransferase 2A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594 		JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,045,958...44,054,024
Ensembl chr 9:44,045,766...44,054,024 		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:9536098 PMID:12140190 PMID:15976030 PMID:16199547 More... RGD:11553925 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,951,595...44,965,341
Ensembl chr 9:44,951,097...44,965,313 		JBrowse link
G Mpzl3 myelin protein zero-like 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,966,479...44,988,735
Ensembl chr 9:44,966,484...44,988,734 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
G Nherf4 NHERF family PDZ scaffold protein 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,158,609...44,162,761
Ensembl chr 9:44,158,604...44,162,768 		JBrowse link
G Nlrx1 NLR family member X1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,164,010...44,179,896
Ensembl chr 9:44,164,014...44,179,896 		JBrowse link
G Oaf out at first homolog ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,132,575...43,151,113
Ensembl chr 9:43,132,532...43,151,208 		JBrowse link
G Pafah1b2 platelet-activating factor acetylhydrolase, isoform 1b, subunit 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,876,609...45,923,988
Ensembl chr 9:45,874,157...45,923,988 		JBrowse link
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,817,745...45,843,405
Ensembl chr 9:45,817,795...45,841,024 		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 9:44,597,605...44,649,800
Ensembl chr 9:44,597,601...44,646,495 		JBrowse link
G Pou2f3 POU domain, class 2, transcription factor 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,035,222...43,117,052
Ensembl chr 9:43,035,234...43,121,666 		JBrowse link
G Rnf214 ring finger protein 214 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,768,067...45,818,209
Ensembl chr 9:45,774,723...45,818,209 		JBrowse link
G Rnf26 ring finger protein 26 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,022,078...44,024,348
Ensembl chr 9:44,006,928...44,024,814
Ensembl chr 9:44,006,928...44,024,814 		JBrowse link
G Rps25 ribosomal protein S25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,319,011...44,321,703
Ensembl chr 9:44,318,436...44,321,724 		JBrowse link
G Sc5d sterol-C5-desaturase ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:42,162,888...42,175,607
Ensembl chr 9:42,162,891...42,175,552 		JBrowse link
G Scn2b sodium channel, voltage-gated, type II, beta ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,029,174...45,041,368
Ensembl chr 9:45,029,080...45,041,368 		JBrowse link
G Scn4b sodium channel, type IV, beta ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,049,922...45,065,453
Ensembl chr 9:45,049,693...45,065,450 		JBrowse link
G Sidt2 SID1 transmembrane family, member 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,849,155...45,869,299
Ensembl chr 9:45,849,155...45,866,556 		JBrowse link
G Sik3 SIK family kinase 3 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,924,099...46,135,492
Ensembl chr 9:45,924,118...46,135,492 		JBrowse link
G Slc37a4 solute carrier family 37 (glucose-6-phosphate transporter), member 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,308,243...44,314,263
Ensembl chr 9:44,308,149...44,314,265 		JBrowse link
G Sorl1 sortilin-related receptor, LDLR class A repeats-containing ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:41,876,005...42,035,593
Ensembl chr 9:41,876,016...42,035,593 		JBrowse link
G Tagln transgelin ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,840,926...45,847,356
Ensembl chr 9:45,840,917...45,847,356 		JBrowse link
G Tbcel tubulin folding cofactor E-like ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:42,323,612...42,383,534
Ensembl chr 9:42,323,612...42,419,105 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		JBrowse link
G Thy1 thymus cell antigen 1, theta ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,954,681...43,959,876
Ensembl chr 9:43,954,681...43,959,876 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,019,945...43,028,000
Ensembl chr 9:43,019,945...43,027,865 		JBrowse link
G Tmem25 transmembrane protein 25 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,705,069...44,710,821
Ensembl chr 9:44,705,066...44,710,604 		JBrowse link
G Tmprss13 transmembrane protease, serine 13 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,230,286...45,258,879
Ensembl chr 9:45,230,398...45,258,879 		JBrowse link
G Tmprss4 transmembrane protease, serine 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:45,084,024...45,115,417
Ensembl chr 9:45,084,024...45,115,390 		JBrowse link
G Trappc4 trafficking protein particle complex 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,315,057...44,318,629
Ensembl chr 9:44,314,995...44,318,897 		JBrowse link
G Treh trehalase (brush-border membrane glycoprotein) ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,584,530...44,597,602
Ensembl chr 9:44,584,530...44,597,602 		JBrowse link
G Trim29 tripartite motif-containing 29 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,222,012...43,247,422
Ensembl chr 9:43,222,145...43,247,412 		JBrowse link
G Ttc36 tetratricopeptide repeat domain 36 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,710,697...44,714,248
Ensembl chr 9:44,710,694...44,714,369 		JBrowse link
G Ube4a ubiquitination factor E4A ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,834,425...44,877,021
Ensembl chr 9:44,834,425...44,876,898 		JBrowse link
G Upk2 uroplakin 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,364,012...44,366,064
Ensembl chr 9:44,364,012...44,366,273 		JBrowse link
G Usp2 ubiquitin specific peptidase 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:43,978,318...44,006,924
Ensembl chr 9:43,978,318...44,006,924 		JBrowse link
G Vps11 VPS11, CORVET/HOPS core subunit ISO ClinVar Annotator: match by term: Isolated microphthalmia 5 ClinVar PMID:28492532 NCBI chr 9:44,259,046...44,272,970
Ensembl chr 9:44,259,046...44,272,967 		JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin M4 ISO ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845 		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 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:7979221 NCBI chr 2:129,206,490...129,213,059
Ensembl chr 2:129,206,490...129,213,059 		JBrowse link
G mt-Atp6 ATP synthase 6, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969 		JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390 		JBrowse link
G mt-Nd3 NADH dehydrogenase 3, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,459...9,806
Ensembl chr MT:9,459...9,806 		JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544 		JBrowse link
G mt-Nd4l NADH dehydrogenase 4L, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,877...10,173
Ensembl chr MT:9,877...10,173 		JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565 		JBrowse link
G mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458 		JBrowse link
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:25741868 PMID:31965079 NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764 		JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:11448301 PMID:20550934 NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		JBrowse link
G mt-Tl2 tRNA leucine 2, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,671...11,741
Ensembl chr MT:11,671...11,741 		JBrowse link
G mt-Tr tRNA arginine, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:9,808...9,875
Ensembl chr MT:9,808...9,875 		JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:20301382 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671 		JBrowse link
G mt-Ty tRNA tyrosine, mitochondrial ISO ClinVar Annotator: match by term: Kearns-Sayre syndrome ClinVar PMID:11594340 PMID:11756614 NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326 		JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha IMP RGD PMID:23406886 RGD:7241824 NCBI chr 5:51,611,591...52,273,316
Ensembl chr 5:51,611,592...51,725,068 		JBrowse link
G Tfam transcription factor A, mitochondrial IAGP OMIM:530000 MouseDO NCBI chr10:71,061,298...71,074,157
Ensembl chr10:71,061,294...71,074,110 		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, sub-family A member 4 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 14 ClinVar PMID:9973280 PMID:10958761 PMID:16546111 PMID:24938718 PMID:25312043 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-acyltransferase) ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:613341		 OMIM
ClinVar
CTD
MouseDO		 PMID:11381255 PMID:17011878 PMID:18055821 PMID:22025579 PMID:22559933 More... NCBI chr 3:82,799,889...82,811,281
Ensembl chr 3:82,799,886...82,811,280 		JBrowse link
Leber congenital amaurosis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eml5 echinoderm microtubule associated protein like 5 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,752,863...98,867,770
Ensembl chr12:98,753,064...98,867,743 		JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,168,543...98,226,565
Ensembl chr12:98,168,553...98,225,718 		JBrowse link
G Gpr65 G-protein coupled receptor 65 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,234,894...98,242,981
Ensembl chr12:98,234,894...98,242,903 		JBrowse link
G Kcnk10 potassium channel, subfamily K, member 10 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,395,691...98,544,472
Ensembl chr12:98,395,696...98,544,569 		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 chr12:98,643,000...98,703,664
Ensembl chr12:98,643,000...98,703,664 		JBrowse link
G Spata7 spermatogenesis associated 7 ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:604232		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19268277 PMID:20104588 More... NCBI chr12:98,594,169...98,636,078
Ensembl chr12:98,594,416...98,636,074 		JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,886,796...98,949,509
Ensembl chr12:98,886,833...98,949,497 		JBrowse link
G Zc3h14 zinc finger CCCH type containing 14 ISO ClinVar Annotator: match by term: Leber congenital amaurosis 3 ClinVar PMID:28492532 NCBI chr12:98,708,276...98,754,033
Ensembl chr12:98,713,223...98,754,012 		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 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		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 protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa with or without skeletal anomalies		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:10420199 PMID:17576681 PMID:25741868 PMID:28285769 More... NCBI chr13:104,767,648...104,953,649
Ensembl chr13:104,767,648...104,953,650 		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 ADP-ribosylation factor-like 2 ISO ClinVar Annotator: match by term: Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 OMIM
ClinVar		 PMID:30945270 NCBI chr19:6,184,419...6,191,167
Ensembl chr19:6,184,404...6,191,578 		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 2:164,339,461...164,350,221
Ensembl chr 2:164,339,440...164,350,221 		JBrowse link
Myoectodermal Gonadal Dysgenesis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam177a2 family with sequence similarity 177 member A2 ISO ClinVar Annotator: match by term: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy ClinVar PMID:8849014 PMID:30893644 PMID:34714774 PMID:34750818 PMID:35812758 NCBI chr12:55,246,377...55,263,953
Ensembl chr12:55,246,377...55,263,953 		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 chr12:55,327,594...55,350,024
Ensembl chr12:55,325,776...55,349,783 		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 chr12:55,349,422...55,429,276
Ensembl chr12:55,346,362...55,429,318 		JBrowse link
NARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Atp6 ATP synthase 6, mitochondrial ISO DNA:missense mutation:cds:m.8993T>G, p.L156R (human)
ClinVar Annotator: match by term: NARP syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:3612192 More... RGD:13825442 NCBI chr MT:7,927...8,607
Ensembl chr MT:7,927...8,607 		JBrowse link
G mt-Atp8 ATP synthase 8, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,766...7,969
Ensembl chr MT:7,766...7,969 		JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G mt-Co2 cytochrome c oxidase II, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,013...7,696
Ensembl chr MT:7,013...7,696 		JBrowse link
G mt-Co3 cytochrome c oxidase III, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:8,607...9,390
Ensembl chr MT:8,607...9,390 		JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
G mt-Nd2 NADH dehydrogenase 2, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,914...4,951
Ensembl chr MT:3,914...4,951 		JBrowse link
G mt-Nd3 NADH dehydrogenase 3, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,459...9,806
Ensembl chr MT:9,459...9,806 		JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544 		JBrowse link
G mt-Nd4l NADH dehydrogenase 4L, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,877...10,173
Ensembl chr MT:9,877...10,173 		JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565 		JBrowse link
G mt-Ta tRNA alanine, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,018...5,086
Ensembl chr MT:5,018...5,086 		JBrowse link
G mt-Tc tRNA cysteine, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,192...5,257
Ensembl chr MT:5,192...5,257 		JBrowse link
G mt-Td tRNA aspartic acid, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:6,942...7,011
Ensembl chr MT:6,942...7,011 		JBrowse link
G mt-Tg tRNA glycine, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,391...9,458
Ensembl chr MT:9,391...9,458 		JBrowse link
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
G mt-Ti tRNA isoleucine, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774 		JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764 		JBrowse link
G mt-Tm tRNA methionine, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,845...3,913
Ensembl chr MT:3,845...3,913 		JBrowse link
G mt-Tn tRNA asparagine, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,089...5,159
Ensembl chr MT:5,089...5,159 		JBrowse link
G mt-Tq tRNA glutamine, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:3,772...3,842
Ensembl chr MT:3,772...3,842 		JBrowse link
G mt-Tr tRNA arginine, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:9,808...9,875
Ensembl chr MT:9,808...9,875 		JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938 		JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671 		JBrowse link
G mt-Tw tRNA tryptophan, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:4,950...5,016
Ensembl chr MT:4,950...5,016 		JBrowse link
G mt-Ty tRNA tyrosine, mitochondrial ISO ClinVar Annotator: match by term: NARP syndrome ClinVar PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More... NCBI chr MT:5,260...5,326
Ensembl chr MT:5,260...5,326 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Newfoundland cone-rod dystrophy		 OMIM
CTD
ClinVar		 PMID:2392416 PMID:9536098 PMID:10102298 PMID:10102299 PMID:11301032 More... NCBI chr 7:79,024,613...79,041,989
Ensembl chr 7:79,024,618...79,036,796 		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 chr 8:3,565,341...3,594,267
Ensembl chr 8:3,565,384...3,594,267 		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 chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		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 7:130,537,933...130,587,388
Ensembl chr 7:130,537,841...130,587,390 		JBrowse link
G Mapkapk3 mitogen-activated protein kinase-activated protein kinase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:107,132,125...107,167,082
Ensembl chr 9:107,132,126...107,167,076 		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:7493155 PMID:7825692 PMID:7880786 More... RGD:8553221, RGD:8554864, RGD:8553238, RGD:8553236 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		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
IAGP		 ClinVar Annotator: match by term: Patterned macular dystrophy 1
OMIM:169150		 OMIM
ClinVar
MouseDO		 PMID:1427912 PMID:1684223 PMID:7493155 PMID:7710395 PMID:7825692 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		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 IAGP
ISO		 OMIM:608970
ClinVar Annotator: match by term: Patterned macular dystrophy 2		 MouseDO
ClinVar
OMIM		 PMID:5442145 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26691986 More... NCBI chr18:35,251,955...35,387,829
Ensembl chr18:35,251,912...35,387,832 		JBrowse link
patterned macular dystrophy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapkapk3 mitogen-activated protein kinase-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 9:107,132,125...107,167,082
Ensembl chr 9:107,132,126...107,167,076 		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 ISO
IAGP		 ClinVar Annotator: match by term: ABHD12-related condition | ClinVar Annotator: match by term: PHARC syndrome
CTD Direct Evidence: marker/mechanism
OMIM:612674		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:17576681 PMID:20797687 PMID:23806086 PMID:24088041 More... NCBI chr 2:150,674,413...150,746,705
Ensembl chr 2:150,674,413...150,746,661 		JBrowse link
Pigmentary Retinopathy and Sensorineural Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Pigmentary retinopathy and sensorineural deafness ClinVar PMID:12682337 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
Posterior Column Ataxia with Retinitis Pigmentosa term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 ISO ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9409377 PMID:9536098 PMID:9855554 PMID:17576681 PMID:21070897 More... NCBI chr 1:190,738,029...190,758,387
Ensembl chr 1:190,738,044...190,758,355 		JBrowse link
G Flvcr2 feline leukemia virus subgroup C cellular receptor 2 ISO ClinVar Annotator: match by term: Posterior column ataxia with retinitis pigmentosa ClinVar PMID:20206334 PMID:20518025 PMID:25741868 PMID:28492532 NCBI chr12:85,793,313...85,860,359
Ensembl chr12:85,793,313...85,860,359 		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 chr10:85,884,610...86,336,730
Ensembl chr10:85,890,989...86,334,760 		JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO ClinVar Annotator: match by term: Fundus dystrophy, pseudoinflammatory, recessive form ClinVar PMID:25741868 PMID:28492532 NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370 		JBrowse link
Reticular Dystrophy of Retinal Pigment Epithelium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba1 crystallin, beta A1 ISO mRNA:increased expression:retinal pigmented epithelium (rat) RGD PMID:21266465 RGD:126925759 NCBI chr11:77,609,440...77,616,119
Ensembl chr11:77,609,441...77,616,109 		JBrowse link
retinal cone dystrophy 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6h phosphodiesterase 6H, cGMP-specific, cone, gamma ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinal cone dystrophy 3A		 OMIM
CTD
ClinVar		 PMID:15629837 PMID:22901948 PMID:25741868 PMID:27472364 PMID:28492532 NCBI chr 6:136,929,216...136,940,483
Ensembl chr 6:136,900,830...136,945,863 		JBrowse link
G Runx2 runt related transcription factor 2 ISO ClinVar Annotator: match by term: Retinal cone dystrophy 3A ClinVar PMID:15629837 NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684 		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 channel, 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 chr19:27,299,461...27,314,579
Ensembl chr19:27,299,988...27,314,579 		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 channel, voltage-dependent, alpha 2/delta subunit 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 6:119,213,435...119,329,368
Ensembl chr 6:119,213,487...119,329,368 		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: Retinal dystrophy and iris coloboma with or without congenital cataract OMIM
ClinVar		 PMID:26056285 PMID:28492532 PMID:37321975 NCBI chr19:22,727,969...22,728,036
Ensembl chr19:22,727,969...22,728,036 		JBrowse link
G Trpm3 transient receptor potential cation channel, subfamily M, member 3 ISO ClinVar Annotator: match by term: Retinal dystrophy and iris coloboma with or without congenital cataract ClinVar PMID:26056285 PMID:28492532 PMID:37321975 NCBI chr19:22,114,789...22,972,774
Ensembl chr19:22,116,410...22,972,774 		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 chr19:11,752,482...11,798,933
Ensembl chr19:11,752,482...11,796,767 		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 7:108,633,475...108,682,538
Ensembl chr 7:108,633,519...108,682,538 		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 7:108,610,087...108,633,666
Ensembl chr 7:108,549,545...108,633,667 		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 IC ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 2:58,157,465...58,247,909
Ensembl chr 2:58,157,465...58,247,907 		JBrowse link
G Asns asparagine synthetase ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 6:7,675,169...7,693,209
Ensembl chr 6:7,675,169...7,693,254 		JBrowse link
G Bard1 BRCA1 associated RING domain 1 ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 1:71,066,694...71,142,300
Ensembl chr 1:71,066,657...71,142,305 		JBrowse link
G Card9 caspase recruitment domain family, member 9 ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 2:26,242,199...26,250,957
Ensembl chr 2:26,242,188...26,250,930 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Crh corticotropin releasing hormone ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 3:19,747,565...19,749,560
Ensembl chr 3:19,747,565...19,749,560 		JBrowse link
G Fcgr1 Fc receptor, IgG, high affinity I ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 3:96,190,225...96,201,285
Ensembl chr 3:96,190,225...96,201,285 		JBrowse link
G Inhba inhibin beta-A ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr13:16,178,841...16,206,194
Ensembl chr13:16,186,436...16,206,206 		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 chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729 		JBrowse link
G Kcnh8 potassium voltage-gated channel, subfamily H (eag-related), member 8 ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr17:52,909,535...53,286,892
Ensembl chr17:52,909,737...53,286,222 		JBrowse link
G Lck lymphocyte protein tyrosine kinase ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 4:129,442,142...129,467,415
Ensembl chr 4:129,442,137...129,467,434 		JBrowse link
G Pf4 platelet factor 4 ISO associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 5:90,920,362...90,921,242
Ensembl chr 5:90,920,294...90,921,242 		JBrowse link
G Phlda1 pleckstrin homology like domain, family A, member 1 ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr10:111,342,147...111,344,510
Ensembl chr10:111,342,147...111,344,506 		JBrowse link
G Ptprc protein tyrosine phosphatase receptor type C ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 1:137,990,601...138,103,491
Ensembl chr 1:137,990,599...138,103,446 		JBrowse link
G Sh3rf1 SH3 domain containing ring finger 1 ISO associated with hyperaldosterone; mRNA:decreased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 8:61,677,117...61,918,327
Ensembl chr 8:61,676,906...61,849,105 		JBrowse link
G Tbx5 T-box 5 ISO associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr 5:119,934,581...120,023,285
Ensembl chr 5:119,970,733...120,023,284 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor ISO associated with hyperaldosterone; mRNA:increased expression:retina (rat) RGD PMID:29713904 RGD:152025547 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		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 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ISO 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:25741868 PMID:26908610 PMID:27486781 PMID:28492532 PMID:31494449 NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714 		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:9536098 PMID:11702989 PMID:16199547 PMID:17576681 PMID:21910225 More... NCBI chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739 		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, sub-family A member 4 ISO ClinVar Annotator: match by term: Retinal dystrophy, early-onset severe ClinVar PMID:9973280 PMID:10958761 PMID:16546111 PMID:24938718 PMID:25312043 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated 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 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735 		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 chr19:38,085,527...38,102,711
Ensembl chr19:38,085,519...38,102,711 		JBrowse link
G Rbp4 retinol binding protein 4, plasma 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 chr19:38,105,068...38,113,769
Ensembl chr19:38,105,077...38,113,729 		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: Retinal dystrophy, juvenile cataracts, and short stature syndrome ClinVar PMID:24916380 PMID:25741868 PMID:28492532 NCBI chr12:78,264,099...78,731,546
Ensembl chr12:78,273,153...78,731,546 		JBrowse link
G Rdh11 retinol dehydrogenase 11 ISO ClinVar Annotator: match by term: Retinal dystrophy, juvenile cataracts, and short stature syndrome OMIM
ClinVar		 PMID:24916380 PMID:25741868 PMID:28492532 NCBI chr12:79,221,007...79,238,629
Ensembl chr12:79,221,111...79,239,067 		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 3:127,460,367...127,574,195
Ensembl chr 3:127,463,959...127,574,176 		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, sub-family 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
CTD Direct Evidence: marker/mechanism		 ClinVar
RGD
CTD		 PMID:248200 PMID:9054934 PMID:9295268 PMID:9466990 PMID:9536098 More... RGD:1598552, RGD:8547535 NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Acan aggrecan treatment IMP RGD PMID:25646031 RGD:11570529 NCBI chr 7:78,702,974...78,764,847
Ensembl chr 7:78,703,231...78,764,847 		JBrowse link
G Adam9 ADAM metallopeptidase domain 9 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:26261414 PMID:28492532 PMID:31456290 NCBI chr 8:25,439,627...25,507,138
Ensembl chr 8:25,439,627...25,506,943 		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 NCBI chr 8:114,423,755...114,575,975
Ensembl chr 8:114,423,758...114,575,370 		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:26355662 PMID:28492532 PMID:30718709 NCBI chr 5:50,117,293...50,216,338
Ensembl chr 5:50,117,298...50,216,348 		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 chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Agbl5 ATP/GTP binding protein-like 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 5:31,045,321...31,064,008
Ensembl chr 5:31,046,038...31,064,309 		JBrowse link
G Agtpbp1 ATP/GTP binding protein 1 IAGP OMIM:268000 MouseDO NCBI chr13:59,597,348...59,705,184
Ensembl chr13:59,593,556...59,733,041 		JBrowse link
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:15322546 PMID:16453322 PMID:21866095 PMID:24033266 PMID:25445212 More... NCBI chr10:20,827,274...20,956,328
Ensembl chr10:20,828,446...20,956,328 		JBrowse link
G Aifm1 apoptosis-inducing factor, mitochondrion-associated 1 treatment ISO protein:increased expression:nucleus: RGD PMID:23951212 RGD:10053563 NCBI chr  X:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 treatment IMP
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:10615133 PMID:10873396 PMID:11139241 PMID:12881340 PMID:14611946 More... RGD:8696011 NCBI chr11:71,919,527...71,933,184
Ensembl chr11:71,918,789...71,928,335 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:17594715 PMID:25706677 PMID:25741868 PMID:25846608 PMID:28492532 More... NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735 		JBrowse link
G Arhgef18 Rho/Rac guanine nucleotide exchange factor 18 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:28492532 NCBI chr 8:3,403,339...3,506,601
Ensembl chr 8:3,403,415...3,506,601 		JBrowse link
G Arl2bp ADP-ribosylation factor-like 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 chr 8:95,393,228...95,401,085
Ensembl chr 8:95,393,228...95,401,053 		JBrowse link
G Arl3 ADP-ribosylation factor-like 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:33748123 NCBI chr19:46,519,548...46,561,621
Ensembl chr19:46,519,535...46,561,637 		JBrowse link
G Arl6 ADP-ribosylation factor-like 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 chr16:59,433,312...59,459,772
Ensembl chr16:59,433,312...59,459,754 		JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr 1:170,532,026...170,696,414
Ensembl chr 1:170,532,243...170,695,340 		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 chr 5:108,581,112...108,582,265
Ensembl chr 5:108,581,110...108,582,314 		JBrowse link
G B3gat3 beta-1,3-glucuronyltransferase 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:20335603 PMID:25741868 PMID:28492532 NCBI chr19:8,897,740...8,904,600
Ensembl chr19:8,897,738...8,904,600 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 More... NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656 		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 chr10:111,134,540...111,137,597
Ensembl chr10:111,134,540...111,137,588 		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 3:37,366,695...37,383,334
Ensembl chr 3:37,366,703...37,375,602 		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 chr 8:94,794,580...94,825,997
Ensembl chr 8:94,794,582...94,825,556 		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 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791 		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 3:36,627,291...36,667,639
Ensembl chr 3:36,627,291...36,667,626 		JBrowse link
G Bbs9 Bardet-Biedl syndrome 9 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr 9:22,386,819...22,799,579
Ensembl chr 9:22,387,011...22,799,576 		JBrowse link
G Bcan brevican severity ISO RGD PMID:29150673 RGD:14392802 NCBI chr 3:87,894,839...87,908,458
Ensembl chr 3:87,894,838...87,907,537 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa		 ClinVar
RGD		 PMID:9536098 PMID:10453731 PMID:10798642 PMID:10854112 PMID:11713080 More... RGD:8547535 NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 PMID:34906470 NCBI chr  X:7,473,342...7,501,435
Ensembl chr  X:7,473,322...7,501,435 		JBrowse link
G Cacna2d4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:32531858 NCBI chr 6:119,213,435...119,329,368
Ensembl chr 6:119,213,487...119,329,368 		JBrowse link
G Car4 carbonic anhydrase 4 susceptibility 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
RGD		 PMID:7581389 PMID:9385361 PMID:9536098 PMID:15090652 PMID:15295099 More... RGD:1600730 NCBI chr11:84,848,580...84,856,880
Ensembl chr11:84,848,612...84,856,870 		JBrowse link
G Casp7 caspase 7 IMP RGD PMID:23470535 RGD:8548491 NCBI chr19:56,382,640...56,430,780
Ensembl chr19:56,385,561...56,430,776 		JBrowse link
G Cat catalase ISO RGD PMID:19293779 RGD:8158049 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Ccdc66 coiled-coil domain containing 66 IAGP OMIM:268000 MouseDO NCBI chr14:27,203,047...27,230,467
Ensembl chr14:27,203,047...27,230,417 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 More... RGD:8547536 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:26306921 PMID:28492532 PMID:30718709 NCBI chr 8:107,237,484...107,283,543
Ensembl chr 8:107,237,523...107,283,929 		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 chr14:36,799,806...36,820,304
Ensembl chr14:36,799,814...36,820,304 		JBrowse link
G Cep250 centrosomal protein 250 IAGP MouseDO NCBI chr 2:155,798,197...155,840,820
Ensembl chr 2:155,798,378...155,840,820 		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 chr10:100,323,410...100,409,527
Ensembl chr10:100,323,420...100,410,702 		JBrowse link
G Cerkl ceramide kinase-like susceptibility ISO DNA:mutation:exon
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: 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		 RGD
ClinVar		 PMID:9536098 PMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 More... RGD:1600829 NCBI chr 2:79,162,835...79,259,332
Ensembl chr 2:79,160,887...79,287,129 		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 chr10:77,814,364...77,821,272
Ensembl chr10:77,814,358...77,822,739 		JBrowse link
G Cfap418 cilia and flagella associated protein 418 ISO
IAGP		 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
OMIM:268000		 CTD
ClinVar
MouseDO		 PMID:22177090 PMID:25515582 PMID:25741868 PMID:25802487 PMID:26355662 More... NCBI chr 4:10,874,249...10,899,425
Ensembl chr 4:10,874,498...10,899,425 		JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9067750 PMID:19422966 PMID:23811034 PMID:25741868 PMID:28492532 More... NCBI chr  X:111,950,289...112,095,236
Ensembl chr  X:111,950,290...112,095,214 		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 7:126,170,571...126,184,991
Ensembl chr 7:126,170,379...126,184,989 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: 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:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:15521980 More... RGD:8547535 NCBI chr 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		JBrowse link
G Cnga1 cyclic nucleotide gated channel alpha 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:7479749 PMID:12362048 PMID:16199547 PMID:18310263 PMID:23462753 More... RGD:8547535, RGD:1300380 NCBI chr 5:72,761,039...72,800,095
Ensembl chr 5:72,761,039...72,801,618 		JBrowse link
G Cngb1 cyclic nucleotide gated channel beta 1 ISO
IAGP		 ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
OMIM:268000
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:11379879 PMID:15557452 PMID:16199547 PMID:17032466 More... RGD:8547535, RGD:734793 NCBI chr 8:95,965,671...96,033,213
Ensembl chr 8:95,965,673...96,033,213 		JBrowse link
G Cngb3 cyclic nucleotide gated channel 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 PMID:1347967 PMID:10888875 PMID:10958649 PMID:11124331 PMID:12815043 More... NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623 		JBrowse link
G Cnnm4 cyclin M4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30718709 More... NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845 		JBrowse link
G Cntf ciliary neurotrophic factor disease_progression ISO associated with lens injury RGD PMID:24558606 RGD:40818112 NCBI chr19:12,740,892...12,742,996
Ensembl chr19:12,741,024...12,742,996 		JBrowse link
G Col18a1 collagen, type XVIII, alpha 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Coq8b coenzyme Q8B ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:33084234 NCBI chr 7:26,928,112...26,957,374
Ensembl chr 7:26,932,448...26,957,375 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated 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:9536098 PMID:10508521 PMID:11231775 PMID:11389483 PMID:12700176 More... RGD:1600966, RGD:8552697 NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Crb2 crumbs family member 2 IMP
IAGP		 OMIM:268000 MouseDO
RGD		 PMID:24493795 RGD:8552786 NCBI chr 2:37,666,238...37,689,115
Ensembl chr 2:37,666,261...37,689,115 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9427255 PMID:9792858 PMID:10766140 PMID:10916183 PMID:11139241 More... RGD:8547535 NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Crygs crystallin, gamma S ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16141006 PMID:25741868 NCBI chr16:22,623,953...22,630,160
Ensembl chr16:22,623,953...22,630,327 		JBrowse link
G Cwc27 CWC27 spliceosome-associated protein IAGP MouseDO NCBI chr13:104,767,648...104,953,649
Ensembl chr13:104,767,648...104,953,650 		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 chr11:116,536,421...116,544,887
Ensembl chr11:116,536,421...116,545,139 		JBrowse link
G Cyp4v3 cytochrome P450, family 4, subfamily v, polypeptide 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24480711 PMID:28041643 PMID:28051075 PMID:28492532 PMID:33090715 NCBI chr 8:45,758,838...45,786,200
Ensembl chr 8:45,757,981...45,786,253 		JBrowse link
G D630045J12Rik RIKEN cDNA D630045J12 gene ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 6:38,100,109...38,231,074
Ensembl chr 6:38,100,109...38,230,944 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:21295282 PMID:21295283 PMID:22110072 PMID:23590195 PMID:24033266 More... NCBI chr 4:133,696,339...133,728,267
Ensembl chr 4:133,696,339...133,728,229 		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 chr 8:110,274,631...110,292,493
Ensembl chr 8:110,274,643...110,292,493 		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 NCBI chr 9:6,928,550...7,177,619
Ensembl chr 9:6,928,503...7,184,446 		JBrowse link
G Edn1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:20005906 RGD:8661800 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		JBrowse link
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive
ClinVar Annotator: match by term: Retinitis pigmentosa		 ClinVar PMID:23105016 PMID:25741868 PMID:28492532 NCBI chr 4:139,079,898...139,106,046
Ensembl chr 4:139,079,898...139,106,041 		JBrowse link
G Eml3 echinoderm microtubule associated protein like 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr19:8,904,584...8,918,946
Ensembl chr19:8,906,916...8,918,946 		JBrowse link
G Epg5 ectopic P-granules 5 autophagy tethering factor IAGP
ISO		 ClinVar Annotator: match by term: Syndromic retinitis pigmentosa MouseDO
ClinVar		 NCBI chr18:77,981,618...78,080,539
Ensembl chr18:77,981,680...78,078,228 		JBrowse link
G Fam161a family with sequence similarity 161, member 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: Tapetoretinal degeneration ClinVar PMID:10507729 PMID:20705278 PMID:20705279 PMID:23167750 PMID:23591405 More... NCBI chr11:22,956,725...22,995,743
Ensembl chr11:22,957,531...22,980,788 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 treatment ISO RGD PMID:11319911 RGD:12801430 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Flvcr1 feline leukemia virus subgroup C cellular receptor 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:9536098 PMID:17576681 PMID:23591405 PMID:25741868 PMID:26467025 More... NCBI chr 1:190,738,029...190,758,387
Ensembl chr 1:190,738,044...190,758,355 		JBrowse link
G Fscn2 fascin actin-bundling protein 2 ISO RGD PMID:11527955 RGD:1598962 NCBI chr11:120,250,991...120,258,999
Ensembl chr11:120,252,360...120,258,994 		JBrowse link
G Fth1 ferritin heavy polypeptide 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 chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462 		JBrowse link
G Gldc glycine decarboxylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:26179960 PMID:27362913 PMID:28492532 NCBI chr19:30,075,847...30,152,829
Ensembl chr19:30,075,847...30,152,829 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 PMID:34906470 NCBI chr 9:107,551,636...107,556,833
Ensembl chr 9:107,551,673...107,556,911 		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: 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 chr12:78,264,099...78,731,546
Ensembl chr12:78,273,153...78,731,546 		JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28492532 PMID:30718709 NCBI chr11:97,222,935...97,243,182
Ensembl chr11:97,222,935...97,242,903 		JBrowse link
G Grin2b glutamate receptor, ionotropic, NMDA2B (epsilon 2) ISO protein:decreased expression:outer plexiform layer of retina (rat) RGD PMID:11925013 RGD:13432034 NCBI chr 6:135,690,219...136,150,658
Ensembl chr 6:135,690,231...136,150,509 		JBrowse link
G Guca1a guanylate cyclase activator 1a (retina) 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 chr17:47,705,482...47,724,439
Ensembl chr17:47,705,483...47,711,509 		JBrowse link
G Guca1b guanylate cyclase activator 1B ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:15452722 PMID:15505030 PMID:22025579 PMID:25741868 PMID:26161267 More... RGD:8547535 NCBI chr17:47,692,526...47,703,892
Ensembl chr17:47,696,318...47,703,892 		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 chr11:69,108,943...69,128,083
Ensembl chr11:69,108,943...69,127,862 		JBrowse link
G Hgf hepatocyte growth factor ISO protein:increased expression:vitreous humor: RGD PMID:20053975 RGD:8548602 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		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 chr 8:26,432,495...26,466,704
Ensembl chr 8:26,434,481...26,466,781 		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:25190649 RGD:13673896 NCBI chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687 		JBrowse link
G Idh3a isocitrate dehydrogenase 3 (NAD+) alpha ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28058510 PMID:28412069 PMID:28492532 PMID:31456290 More... NCBI chr 9:54,493,795...54,511,946
Ensembl chr 9:54,493,618...54,511,945 		JBrowse link
G Idh3b isocitrate dehydrogenase 3 (NAD+) beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa		 CTD
ClinVar		 PMID:16199547 PMID:18806796 PMID:25741868 PMID:28492532 NCBI chr 2:130,121,229...130,126,371
Ensembl chr 2:130,121,229...130,126,467 		JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:16199547 PMID:22503633 PMID:23418020 PMID:24009529 PMID:25741868 More... NCBI chr17:25,235,056...25,318,461
Ensembl chr17:25,235,059...25,318,469 		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 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		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, 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 6:29,200,435...29,216,363
Ensembl chr 6:29,200,433...29,216,363 		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 9:80,215,467...80,347,707
Ensembl chr 9:80,220,612...80,347,534 		JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration		 ClinVar PMID:9536098 PMID:17576681 PMID:20673862 PMID:22277662 PMID:24876279 More... NCBI chr16:56,019,447...56,094,119
Ensembl chr16:56,024,676...56,094,119 		JBrowse link
G Iqcb1 IQ calmodulin-binding motif containing 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:22261762 PMID:22773737 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083 		JBrowse link
G Itga4 integrin 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 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467 		JBrowse link
G Itprid2 ITPR interacting domain containing 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28041643 NCBI chr 2:79,419,207...79,503,310
Ensembl chr 2:79,465,696...79,503,310 		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 chr19:37,364,830...37,410,311
Ensembl chr19:37,364,851...37,410,307 		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 2:146,697,743...146,812,018
Ensembl chr 2:146,697,784...146,812,017 		JBrowse link
G Kl klotho IEP
ISO		 protein:increased expression:retina,photoreceptor,nucleus: RGD PMID:23796581 PMID:23796581 RGD:10403060, RGD:10403060 NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282 		JBrowse link
G Klb klotho beta IEP protein:increased expression:outer nuclear layer: RGD PMID:23796581 RGD:10403060 NCBI chr 5:65,505,754...65,544,300
Ensembl chr 5:65,505,657...65,541,350 		JBrowse link
G Klhl7 kelch-like 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:19520207 PMID:21828050 PMID:25741868 PMID:27160483 PMID:28041643 More... NCBI chr 5:24,305,563...24,368,363
Ensembl chr 5:24,305,603...24,365,790 		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 5:31,409,050...31,410,541
Ensembl chr 5:31,409,035...31,410,546 		JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr 8:73,541,227...74,080,164
Ensembl chr 8:73,541,227...74,080,168 		JBrowse link
G Lca5 Leber congenital amaurosis 5 (human) ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:17546029 PMID:23946133 PMID:24265693 PMID:25741868 PMID:28492532 More... NCBI chr 9:83,273,408...83,325,047
Ensembl chr 9:83,272,346...83,323,180 		JBrowse link
G Lrat lecithin-retinol acyltransferase (phosphatidylcholine-retinol-O-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 | ClinVar Annotator: match by term: Tapetoretinal degeneration
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 3:82,799,889...82,811,281
Ensembl chr 3:82,799,886...82,811,280 		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 chr13:41,178,483...41,233,182
Ensembl chr13:41,178,484...41,233,182 		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, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa		 CTD
ClinVar		 PMID:9536098 PMID:11062461 PMID:11592982 PMID:15111602 PMID:16199547 More... NCBI chr 2:128,540,836...128,645,082
Ensembl chr 2:128,540,876...128,644,814 		JBrowse link
G Mfrp membrane frizzled-related protein ISO DNA:deletio:exon:c.498delC(P.166PfsX26)(human) RGD PMID:22605927 RGD:11553921 NCBI chr 9:44,013,067...44,020,484
Ensembl chr 9:44,013,026...44,020,484 		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 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr11:87,744,007...87,754,629
Ensembl chr11:87,744,041...87,754,629 		JBrowse link
G Mt2 metallothionein 2 IEP
ISO		 mRNA:increased expression:retina (mouse)
mRNA:increased expression:retina (rat)		 RGD PMID:20357188 PMID:20357188 RGD:6483819, RGD:6483819 NCBI chr 8:94,899,246...94,900,195
Ensembl chr 8:94,899,292...94,900,196 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:8900236 PMID:10094549 PMID:19074810 PMID:24033266 PMID:25404053 More... RGD:8547536 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Neurod1 neurogenic differentiation 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:28041643 NCBI chr 2:79,282,981...79,286,980
Ensembl chr 2:79,282,865...79,287,095 		JBrowse link
G Ngf nerve growth factor ISO protein:decreased expression:lacrimal gland RGD PMID:20595895 RGD:4891133 NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329 		JBrowse link
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:34906470 NCBI chr 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		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
RGD		 PMID:9536098 PMID:10655056 PMID:11071390 PMID:11773633 PMID:12963616 More... RGD:8547535 NCBI chr 9:59,850,054...59,868,117
Ensembl chr 9:59,850,054...59,867,942 		JBrowse link
G Nrl neural retina leucine zipper gene ISO DNA:missense mutation:cds:p.S50L (human)
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10192380 PMID:12796249 PMID:15591106 PMID:17335001 PMID:23534816 More... RGD:1580991 NCBI chr14:55,756,973...55,762,438
Ensembl chr14:55,756,435...55,762,438 		JBrowse link
G Nyx nyctalopin ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr  X:13,327,097...13,359,059
Ensembl chr  X:13,332,349...13,355,552 		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:165,171,503...165,223,704
Ensembl chr  X:165,173,029...165,223,700 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		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 chr16:25,778,034...25,924,563
Ensembl chr16:25,778,038...25,924,534 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:11479594 PMID:12510040 PMID:15659606 PMID:15834858 PMID:16272150 More... NCBI chr 2:131,103,928...131,141,108
Ensembl chr 2:131,104,415...131,141,108 		JBrowse link
G Pcare photoreceptor cilium actin regulator ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa		 ClinVar PMID:20398884 PMID:20398886 PMID:20811058 PMID:21412943 PMID:23105016 More... NCBI chr17:72,050,919...72,059,904
Ensembl chr17:72,050,550...72,059,889 		JBrowse link
G Pcdh15 protocadherin 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 chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Pde6a phosphodiesterase 6A, cGMP-specific, rod, alpha ISO
IAGP		 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
OMIM:268000		 ClinVar
CTD
MouseDO
RGD		 PMID:7493036 PMID:10393062 PMID:16199547 PMID:17110911 PMID:18723146 More... RGD:8547535 NCBI chr18:61,353,546...61,426,698
Ensembl chr18:61,353,387...61,422,995 		JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide IAGP
ISO		 ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: 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
OMIM:268000
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:3203739 PMID:7724547 PMID:8394174 PMID:8595886 PMID:9238087 More... RGD:8657407, RGD:40924664 NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263 		JBrowse link
G Pde6g phosphodiesterase 6G, cGMP-specific, rod, gamma ISO
IAGP		 ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
OMIM:268000
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:20655036 PMID:25741868 PMID:28492532 PMID:23701314 RGD:8547535 NCBI chr11:120,338,433...120,344,326
Ensembl chr11:120,338,431...120,344,326 		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:18976725 PMID:20237254 PMID:20333770 PMID:20537394 PMID:21069908 More... NCBI chr 1:30,841,417...30,912,989
Ensembl chr 1:30,841,420...30,913,002 		JBrowse link
G Phyh phytanoyl-CoA hydroxylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:1155634 PMID:9326939 PMID:9326940 PMID:9657395 PMID:10767344 More... NCBI chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541 		JBrowse link
G Pitpnm3 PITPNM family member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:8586428 PMID:17377520 PMID:22405330 PMID:25472526 PMID:25741868 More... NCBI chr11:71,938,354...72,026,715
Ensembl chr11:71,938,354...72,026,604 		JBrowse link
G Poc5 POC5 centriolar protein ISO ClinVar Annotator: match by term: Syndromic retinitis pigmentosa ClinVar PMID:29272404 NCBI chr13:96,524,767...96,553,719
Ensembl chr13:96,524,802...96,554,245 		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 4:122,729,879...122,752,968
Ensembl chr 4:122,730,035...122,752,968 		JBrowse link
G Prcd photoreceptor disc component ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:9536098 PMID:16199547 PMID:16938425 PMID:17576681 PMID:20507925 More... NCBI chr11:116,544,603...116,559,224
Ensembl chr11:116,544,360...116,559,215 		JBrowse link
G Prkcg protein kinase C, gamma IMP RGD PMID:9545390 RGD:737791 NCBI chr 7:3,352,038...3,379,615
Ensembl chr 7:3,337,704...3,379,615 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa		 ClinVar PMID:9634506 PMID:10205271 PMID:12657606 PMID:12659814 PMID:15665353 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		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 3:95,737,436...95,763,197
Ensembl chr 3:95,737,436...95,763,197 		JBrowse link
G Prpf31 pre-mRNA processing factor 31 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa		 ClinVar
RGD		 PMID:3071870 PMID:16199547 PMID:16799052 PMID:18317597 PMID:19506198 More... RGD:8547535 NCBI chr 7:3,632,984...3,645,484
Ensembl chr 7:3,632,984...3,645,485 		JBrowse link
G Prpf6 pre-mRNA splicing factor 6 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:181,243,112...181,297,454
Ensembl chr 2:181,233,661...181,297,453 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa		 ClinVar
RGD		 PMID:9536098 PMID:11468273 PMID:12714658 PMID:16799052 PMID:17576681 More... RGD:1599210, RGD:8547535 NCBI chr11:75,377,603...75,400,273
Ensembl chr11:75,377,642...75,400,275 		JBrowse link
G Prph2 peripherin 2 ISO
IMP		 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:7493155 PMID:7754251 PMID:8015786 More... RGD:8547535, RGD:8554861, RGD:8554860, RGD:8553237, RGD:8553235, RGD:8553234, RGD:8553222, RGD:8553218, RGD:8553216, RGD:8553188 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO DNA:missense mutation:exon:p.S16P (human) RGD PMID:25491489 RGD:11056008 NCBI chr  X:139,357,352...139,376,889
Ensembl chr  X:139,357,362...139,376,889 		JBrowse link
G Pten phosphatase and tensin homolog onset ISO mRNA:increased expression:retina (rat) RGD PMID:22432009 RGD:12802340 NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560 		JBrowse link
G Rab28 RAB28, member RAS oncogene family ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:30718709 NCBI chr 5:41,782,316...41,865,535
Ensembl chr 5:41,782,319...41,865,500 		JBrowse link
G Rbp3 retinol binding protein 3, interstitial 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 chr14:33,675,960...33,686,176
Ensembl chr14:33,675,960...33,686,173 		JBrowse link
G Rcbtb1 regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:27486781 PMID:28492532 NCBI chr14:59,438,471...59,474,716
Ensembl chr14:59,438,658...59,474,714 		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 chr12:79,255,687...79,269,438
Ensembl chr12:79,255,688...79,269,439 		JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr10:128,749,457...128,755,906
Ensembl chr10:128,749,462...128,758,757 		JBrowse link
G Reep6 receptor accessory protein 6 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:29120066 NCBI chr10:80,165,831...80,172,275
Ensembl chr10:80,165,787...80,172,275 		JBrowse link
G Rgr retinal G protein coupled receptor 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:10581022 PMID:16199547 PMID:16968212 PMID:24265693 PMID:25741868 More... RGD:1599623 NCBI chr14:36,756,866...36,770,971
Ensembl chr14:36,756,866...36,770,921 		JBrowse link
G Rho rhodopsin treatment ISO
IMP
IAGP		 DNA:point mutation:exon:P23H, P347L, P347S, T58R
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
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: 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 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		JBrowse link
G Rhox2a reproductive homeobox 2A ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr  X:36,508,645...36,513,343
Ensembl chr  X:36,508,629...36,513,339 		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 1:22,356,196...22,845,239
Ensembl chr 1:22,356,475...22,845,203 		JBrowse link
G Ripk1 receptor (TNFRSF)-interacting serine-threonine kinase 1 IMP RGD PMID:22908283 RGD:7777166 NCBI chr13:34,181,072...34,219,153
Ensembl chr13:34,186,346...34,221,130 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 IMP RGD PMID:22908283 RGD:7777166 NCBI chr14:56,022,452...56,026,314
Ensembl chr14:56,022,452...56,026,322 		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
RGD		 PMID:9326942 PMID:10102298 PMID:10102299 PMID:11449319 PMID:11453974 More... RGD:1599618, RGD:8547535 NCBI chr 7:79,024,613...79,041,989
Ensembl chr 7:79,024,618...79,036,796 		JBrowse link
G Rom1 rod outer segment membrane protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa		 CTD
ClinVar		 PMID:7904211 PMID:8202715 PMID:8595413 PMID:9187681 PMID:9331261 More... NCBI chr19:8,904,746...8,906,720
Ensembl chr19:8,904,755...8,906,720 		JBrowse link
G Rp1 retinitis pigmentosa 1 (human) ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar 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:10484783 PMID:10845615 PMID:11095597 PMID:11139241 More... RGD:8547535 NCBI chr 1:4,185,896...4,479,508
Ensembl chr 1:4,069,780...4,479,464 		JBrowse link
G Rp1l1 retinitis pigmentosa 1 homolog like 1 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:22277662 PMID:25324289 PMID:26355662 PMID:28492532 NCBI chr14:64,229,880...64,270,955
Ensembl chr14:64,229,955...64,272,474 		JBrowse link
G Rp2 retinitis pigmentosa 2 homolog 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 | ClinVar Annotator: match by term: Tapetoretinal degeneration		 ClinVar PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 PMID:10862093 More... NCBI chr  X:20,230,778...20,271,873
Ensembl chr  X:20,230,720...20,271,892 		JBrowse link
G Rp9 retinitis pigmentosa 9 (human) ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:1479605 PMID:12032732 PMID:15474994 PMID:15541726 PMID:16671097 More... NCBI chr 9:22,359,607...22,379,652
Ensembl chr 9:22,322,343...22,381,039 		JBrowse link
G Rpe65 retinal pigment epithelium 65 treatment ISO
IMP		 ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, 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 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:7611300 PMID:8673101 PMID:8817343 PMID:9399904 PMID:9536098 More... RGD:1599605, RGD:8547535, RGD:1599602, RGD:1599600 NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator 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 chr14:52,341,698...52,398,796
Ensembl chr14:52,348,161...52,401,003 		JBrowse link
G Sag S-antigen, retina and pineal gland (arrestin) ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9452120 PMID:9501883 PMID:9536098 PMID:9565049 PMID:15234147 More... RGD:8547535 NCBI chr 1:87,731,402...87,772,880
Ensembl chr 1:87,731,402...87,772,880 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:34906470 NCBI chr 4:156,331,423...156,342,409
Ensembl chr 4:156,331,423...156,340,717 		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 9:55,457,163...55,845,505
Ensembl chr 9:55,457,163...55,845,403 		JBrowse link
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration ClinVar PMID:16199541 PMID:23360997 PMID:24033266 PMID:25307848 PMID:25741868 More... NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		JBrowse link
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 treatment ISO human gene in a rat model RGD PMID:18837062 RGD:8554900 NCBI chr11:75,300,855...75,313,449
Ensembl chr11:75,300,595...75,313,527 		JBrowse link
G Slc19a1 solute carrier family 19 (folate transporter), member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr10:76,868,103...76,886,266
Ensembl chr10:76,868,075...76,896,836 		JBrowse link
G Slc24a1 solute carrier family 24 (sodium/potassium/calcium exchanger), 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 NCBI chr 9:64,830,143...64,858,902
Ensembl chr 9:64,830,143...64,858,889 		JBrowse link
G Slc6a6 solute carrier family 6 (neurotransmitter transporter, taurine), member 6 IAGP OMIM:268000 MouseDO NCBI chr 6:91,661,031...91,736,044
Ensembl chr 6:91,661,034...91,736,047 		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 4:40,269,579...40,270,228
Ensembl chr 4:40,269,579...40,270,940 		JBrowse link
G Snrnp200 small nuclear ribonucleoprotein 200 (U5) 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, 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 2:127,050,306...127,082,373
Ensembl chr 2:127,050,306...127,082,371 		JBrowse link
G Snx17 sorting nexin 17 ISO ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 NCBI chr 5:31,350,634...31,356,244
Ensembl chr 5:31,350,571...31,356,487 		JBrowse link
G Sod1 superoxide dismutase 1, soluble severity IMP
ISO		 human gene in a mouse model RGD PMID:21736939 PMID:19293779 RGD:8655617, RGD:8158049 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial IDA RGD PMID:19293779 RGD:8158049 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		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 chr12:98,594,169...98,636,078
Ensembl chr12:98,594,416...98,636,074 		JBrowse link
G Tfpt TCF3 (E2A) fusion partner ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant ClinVar PMID:25741868 NCBI chr 7:3,623,323...3,632,911
Ensembl chr 7:3,623,323...3,632,928 		JBrowse link
G Topors topoisomerase I binding, arginine/serine-rich 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 4:40,259,606...40,269,841
Ensembl chr 4:40,259,601...40,269,850 		JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr 7:63,803,583...63,923,630
Ensembl chr 7:63,803,583...63,919,523 		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 chr12:98,886,796...98,949,509
Ensembl chr12:98,886,833...98,949,497 		JBrowse link
G Ttll5 tubulin tyrosine ligase-like family, member 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:24791901 PMID:25741868 PMID:27162334 PMID:28492532 PMID:32531858 NCBI chr12:85,871,417...86,100,534
Ensembl chr12:85,871,433...86,108,667 		JBrowse link
G Ttpa tocopherol (alpha) transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 4:20,007,889...20,030,823
Ensembl chr 4:20,007,938...20,030,785 		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 chr17:28,570,489...28,584,190
Ensembl chr17:28,570,489...28,584,196 		JBrowse link
G Unc119 unc-119 lipid binding chaperone ISO CTD Direct Evidence: marker/mechanism CTD PMID:11006213 NCBI chr11:78,234,321...78,239,990
Ensembl chr11:78,234,308...78,239,990 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar
RGD		 PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... RGD:8547536 NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G Ush1g USH1 protein network component sans ISO RGD PMID:20212494 RGD:8547536 NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		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, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal 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:9536098 PMID:9624053 More... RGD:8547535, RGD:8547967, RGD:8547966, RGD:8547963 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:eye: RGD PMID:18326689 RGD:7483592 NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295 		JBrowse link
G Vmn2r17 vomeronasal 2, receptor 17 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
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/Recessive | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration
ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Syndromic retinitis pigmentosa		 CTD
ClinVar		 PMID:287049 PMID:2033377 PMID:9536098 PMID:9585594 PMID:16199547 More... NCBI chr 5:109,567,879...109,601,253
Ensembl chr 5:109,567,554...109,606,325 		JBrowse link
G Vps13b vacuolar protein sorting 13B ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar PMID:15141358 PMID:16648375 PMID:20461111 PMID:25741868 PMID:26467025 More... NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa ClinVar NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		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 chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		JBrowse link
G Zdhhc24 zinc finger, DHHC domain 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 chr19:4,928,696...4,935,425
Ensembl chr19:4,928,696...4,935,425 		JBrowse link
G Zfp408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa ClinVar PMID:28095122 NCBI chr 2:91,473,101...91,480,372
Ensembl chr 2:91,474,014...91,480,136 		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 5:31,356,325...31,360,007
Ensembl chr 5:31,356,325...31,359,647 		JBrowse link
G Zfyve26 zinc finger, FYVE domain 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 chr12:79,279,120...79,343,102
Ensembl chr12:79,279,120...79,343,078 		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, sub-family 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 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Rp1 retinitis pigmentosa 1 (human) ISO
IAGP		 ClinVar Annotator: match by term: RP1-related retinal dystrophy | ClinVar Annotator: match by term: Retinitis pigmentosa 1
CTD Direct Evidence: marker/mechanism
OMIM:180100		 OMIM
ClinVar
CTD
MouseDO		 PMID:1783394 PMID:8931712 PMID:9536098 PMID:10391211 PMID:10391212 More... NCBI chr 1:4,185,896...4,479,508
Ensembl chr 1:4,069,780...4,479,464 		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:11875049 PMID:11875050 PMID:15851576 PMID:15882147 PMID:16384941 More... NCBI chr 6:29,200,435...29,216,363
Ensembl chr 6:29,200,433...29,216,363 		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
IAGP		 ClinVar Annotator: match by term: Retinitis pigmentosa 11
CTD Direct Evidence: marker/mechanism
OMIM:600138		 OMIM
ClinVar
CTD
MouseDO		 PMID:5764686 PMID:8004108 PMID:8025041 PMID:8808602 PMID:9345108 More... NCBI chr 7:3,632,984...3,645,484
Ensembl chr 7:3,632,984...3,645,485 		JBrowse link
retinitis pigmentosa 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspm abnormal spindle microtubule assembly ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chr 1:139,381,450...139,421,826
Ensembl chr 1:139,382,510...139,421,829 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO
IAGP		 ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM | ClinVar Annotator: match by term: Retinitis pigmentosa 12
CTD Direct Evidence: marker/mechanism
OMIM:600105		 OMIM
ClinVar
CTD
MouseDO		 PMID:1389483 PMID:1427914 PMID:2906847 PMID:8069649 PMID:9536098 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		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 chr 1:138,891,447...139,103,781
Ensembl chr 1:138,891,173...139,106,698 		JBrowse link
G F13b coagulation factor XIII, beta subunit ISO ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar PMID:10508521 PMID:17964524 PMID:22065545 PMID:23379534 PMID:25412400 More... NCBI chr 1:139,429,285...139,451,496
Ensembl chr 1:139,429,440...139,451,490 		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 chr 1:139,349,916...139,380,743
Ensembl chr 1:139,350,026...139,380,743 		JBrowse link
retinitis pigmentosa 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Retinitis pigmentosa 13 ClinVar PMID:16936081 PMID:25741868 PMID:26355662 PMID:28492532 NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO
IAGP		 ClinVar Annotator: match by term: Retinitis pigmentosa 13
CTD Direct Evidence: marker/mechanism
OMIM:600059		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11468273 PMID:11910553 PMID:12714658 PMID:16799052 More... NCBI chr11:75,377,603...75,400,273
Ensembl chr11:75,377,642...75,400,275 		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 chr11:75,377,603...75,400,273
Ensembl chr11:75,377,642...75,400,275 		JBrowse link
G Tead3 TEA domain family member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 14 ClinVar PMID:9462750 PMID:25741868 PMID:26427415 PMID:28492532 PMID:32531858 NCBI chr17:28,550,645...28,569,779
Ensembl chr17:28,550,645...28,569,791 		JBrowse link
G Tulp1 TUB like protein 1 ISO
IAGP		 ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, JUVENILE, TULP1-RELATED | ClinVar Annotator: match by term: Retinitis pigmentosa 14
CTD Direct Evidence: marker/mechanism
OMIM:600132		 OMIM
ClinVar
CTD
MouseDO		 PMID:8606774 PMID:9462750 PMID:9462751 PMID:9536098 PMID:9660588 More... NCBI chr17:28,570,489...28,584,190
Ensembl chr17:28,570,489...28,584,196 		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: Retinitis pigmentosa 17 ClinVar PMID:7581389 PMID:9385361 PMID:15090652 PMID:15295099 PMID:15563508 More... NCBI chr11:84,848,580...84,856,880
Ensembl chr11:84,848,612...84,856,870 		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
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 18
OMIM:601414		 OMIM
CTD
ClinVar
MouseDO		 PMID:11773002 PMID:15085354 PMID:16799052 PMID:17517693 PMID:17932117 More... NCBI chr 3:95,737,436...95,763,197
Ensembl chr 3:95,737,436...95,763,197 		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, sub-family A member 4 ISO
IAGP		 ClinVar Annotator: match by term: Retinitis pigmentosa 19
CTD Direct Evidence: marker/mechanism
OMIM:601718		 OMIM
ClinVar
CTD
MouseDO		 PMID:9054934 PMID:9070931 PMID:9295268 PMID:9425888 PMID:9466990 More... NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
retinitis pigmentosa 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ADP-ribosylation factor-like 3 IAGP OMIM:312600 MouseDO NCBI chr19:46,519,548...46,561,621
Ensembl chr19:46,519,535...46,561,637 		JBrowse link
G Rp2 retinitis pigmentosa 2 homolog ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 2
OMIM:312600		 OMIM
CTD
ClinVar
MouseDO		 PMID:9536098 PMID:9697692 PMID:10053026 PMID:10090907 PMID:10520237 More... NCBI chr  X:20,230,778...20,271,873
Ensembl chr  X:20,230,720...20,271,892 		JBrowse link
retinitis pigmentosa 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinal pigment epithelium 65 ISO
IAGP		 ClinVar Annotator: match by term: RPE65-related disorder | ClinVar Annotator: match by term: Retinitis pigmentosa 20
CTD Direct Evidence: marker/mechanism
OMIM:613794		 OMIM
ClinVar
CTD
MouseDO		 PMID:4492281 PMID:9326927 PMID:9326941 PMID:9501220 PMID:9536098 More... NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		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 OMIM
ClinVar		 PMID:10892847 PMID:22619378 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr  X:165,171,503...165,223,704
Ensembl chr  X:165,173,029...165,223,700 		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:17011488 PMID:18976725 PMID:20237254 PMID:20333770 PMID:20537394 More... NCBI chr 1:30,841,417...30,912,989
Ensembl chr 1:30,841,420...30,913,002 		JBrowse link
G Vmn2r17 vomeronasal 2, receptor 17 ISO ClinVar Annotator: match by term: EYS-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 25
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2033377 PMID:9536098 PMID:9585594 PMID:16199547 PMID:17011488 More... NCBI chr 5:109,567,879...109,601,253
Ensembl chr 5:109,567,554...109,606,325 		JBrowse link
retinitis pigmentosa 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cerkl ceramide kinase-like ISO
IAGP		 ClinVar Annotator: match by term: Retinitis pigmentosa 26
CTD Direct Evidence: marker/mechanism
OMIM:608380		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:14681825 PMID:15708351 PMID:16199547 PMID:17576681 More... NCBI chr 2:79,162,835...79,259,332
Ensembl chr 2:79,160,887...79,287,129 		JBrowse link
G Itga4 integrin alpha 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 26 ClinVar PMID:24938718 PMID:25741868 PMID:28492532 PMID:29555955 PMID:31736247 NCBI chr 2:79,084,767...79,163,458
Ensembl chr 2:79,085,770...79,163,467 		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 gene ISO 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 chr14:55,756,973...55,762,438
Ensembl chr14:55,756,435...55,762,438 		JBrowse link
G Pck2 phosphoenolpyruvate carboxykinase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Retinitis pigmentosa 27 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:55,777,721...55,787,477
Ensembl chr14:55,777,723...55,788,699 		JBrowse link
retinitis pigmentosa 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam161a family with sequence similarity 161, member A ISO
IAGP		 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 chr11:22,956,725...22,995,743
Ensembl chr11:22,957,531...22,980,788 		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:78,310,164...78,560,957
Ensembl chr  X:78,310,165...78,560,891 		JBrowse link
G Cybb cytochrome b-245, beta polypeptide ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:9,301,493...9,354,005
Ensembl chr  X:9,301,491...9,354,010 		JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:9,520,509...9,529,222
Ensembl chr  X:9,520,506...9,529,242 		JBrowse link
G Fam47c family with sequence similarity 47, member C ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:77,781,369...77,783,016
Ensembl chr  X:77,781,369...77,783,007 		JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:9,713,186...9,713,739
Ensembl chr  X:9,713,167...9,713,747 		JBrowse link
G Iqcb1 IQ calmodulin-binding motif containing 1 severity ISO RGD PMID:22183348 PMID:21857984 RGD:11352374, RGD:11537386 NCBI chr16:36,648,722...36,694,044
Ensembl chr16:36,648,747...36,693,083 		JBrowse link
G Lancl3 LanC lantibiotic synthetase component C-like 3 (bacterial) ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:9,066,212...9,134,324
Ensembl chr  X:9,066,141...9,134,324 		JBrowse link
G Mageb16-ps1 MAGE family member B16, pseudogene 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:143,335,754...143,339,235
Ensembl chr  X:143,338,207...143,339,333 		JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:10,118,584...10,187,275
Ensembl chr  X:10,118,544...10,187,263 		JBrowse link
G Prrg1 proline rich Gla (G-carboxyglutamic acid) 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:77,493,216...77,627,539
Ensembl chr  X:77,493,219...77,627,502 		JBrowse link
G Rp2 retinitis pigmentosa 2 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar PMID:9536098 PMID:17576681 PMID:20625056 PMID:23150612 PMID:25741868 More... NCBI chr  X:20,230,778...20,271,873
Ensembl chr  X:20,230,720...20,271,892 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO
IAGP
IMP		 ClinVar Annotator: match by term: Retinitis pigmentosa 3
CTD Direct Evidence: marker/mechanism
OMIM:300029
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
CTD
MouseDO
RGD		 PMID:7611300 PMID:8673101 PMID:8817343 PMID:9326322 PMID:9399904 More... RGD:8553233, RGD:8553228, RGD:8553210, RGD:8553208, RGD:8553206, RGD:8553204, RGD:8553202, RGD:8553198, RGD:8553196, RGD:8553229 NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G Rpgrip1l Rpgrip1-like severity ISO DNA:polymorphism:cds:p.R744Q (rs2302677)(human) RGD PMID:22183348 RGD:11352374 NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890 		JBrowse link
G Srpx sushi-repeat-containing protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:9,904,216...9,983,879
Ensembl chr  X:9,904,216...9,983,948 		JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:9,613,851...9,871,268
Ensembl chr  X:9,751,861...9,860,782 		JBrowse link
G Tspan7 tetraspanin 7 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:10,351,355...10,462,843
Ensembl chr  X:10,351,397...10,462,844 		JBrowse link
G Xk X-linked Kx blood group ISO ClinVar Annotator: match by term: Retinitis pigmentosa 3 ClinVar NCBI chr  X:9,139,023...9,179,484
Ensembl chr  X:9,138,995...9,179,489 		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 ISO
IAGP		 ClinVar Annotator: match by term: Retinitis pigmentosa 30
CTD Direct Evidence: marker/mechanism
OMIM:607921		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11527955 PMID:14609921 PMID:15994872 PMID:16280978 More... NCBI chr11:120,250,991...120,258,999
Ensembl chr11:120,252,360...120,258,994 		JBrowse link
retinitis pigmentosa 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Topors topoisomerase I binding, arginine/serine-rich 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 4:40,259,606...40,269,841
Ensembl chr 4:40,259,601...40,269,850 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 32		 OMIM
CTD
ClinVar		 PMID:16189710 PMID:28492532 PMID:30157172 NCBI chr 3:108,561,194...108,586,156
Ensembl chr 3:108,561,229...108,586,156 		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 200 (U5) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 33		 OMIM
CTD
ClinVar		 PMID:16612614 PMID:19710410 PMID:19878916 PMID:21618346 PMID:23029027 More... NCBI chr 2:127,050,306...127,082,373
Ensembl chr 2:127,050,306...127,082,371 		JBrowse link
retinitis pigmentosa 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A ISO ClinVar Annotator: match by term: Retinitis pigmentosa 35
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199541 PMID:22956603 PMID:23360997 PMID:24033266 PMID:25307848 More... NCBI chr 3:88,343,266...88,368,500
Ensembl chr 3:88,343,266...88,368,489 		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 chr11:116,536,421...116,544,887
Ensembl chr11:116,536,421...116,545,139 		JBrowse link
G Prcd photoreceptor disc component ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 36		 OMIM
CTD
ClinVar		 PMID:16938425 PMID:20507925 PMID:23661369 PMID:23805042 PMID:24992209 More... NCBI chr11:116,544,603...116,559,224
Ensembl chr11:116,544,360...116,559,215 		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: NR2E3-related disorder | 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 9:59,850,054...59,868,117
Ensembl chr 9:59,850,054...59,867,942 		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: Retinitis pigmentosa 38 OMIM
ClinVar		 PMID:9536098 PMID:11062461 PMID:11727200 PMID:15111602 PMID:16199547 More... NCBI chr 2:128,540,836...128,645,082
Ensembl chr 2:128,540,876...128,644,814 		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:9536098 PMID:9624053 More... NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		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
IAGP		 ClinVar Annotator: match by term: Retinitis pigmentosa 4 | ClinVar Annotator: match by term: Retinitis pigmentosa 4, autosomal recessive
CTD Direct Evidence: marker/mechanism
OMIM:613731		 OMIM
ClinVar
CTD
MouseDO		 PMID:1301135 PMID:1302614 PMID:1303237 PMID:1356370 PMID:1418997 More... NCBI chr 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		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 chr 5:108,581,112...108,582,265
Ensembl chr 5:108,581,110...108,582,314 		JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO
IAGP		 ClinVar Annotator: match by term: PDE6B-related disorder | ClinVar Annotator: match by term: Retinitis pigmentosa 40
OMIM:613801		 OMIM
ClinVar
MouseDO		 PMID:7599633 PMID:7724547 PMID:8394174 PMID:8595886 PMID:9536098 More... NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263 		JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 40 ClinVar NCBI chr 5:108,588,920...108,598,631
Ensembl chr 5:108,588,920...108,596,966 		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
IAGP		 ClinVar Annotator: match by term: Retinitis pigmentosa 41
CTD Direct Evidence: marker/mechanism
OMIM:612095		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10205271 PMID:10587575 PMID:16199547 PMID:17576681 More... NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		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 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:19520207 PMID:21828050 More... NCBI chr 5:24,305,563...24,368,363
Ensembl chr 5:24,305,603...24,365,790 		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, cGMP-specific, rod, alpha ISO ClinVar Annotator: match by term: Retinitis pigmentosa 43 OMIM
ClinVar		 PMID:7493036 PMID:9536098 PMID:10393062 PMID:16199547 PMID:17110911 More... NCBI chr18:61,353,546...61,426,698
Ensembl chr18:61,353,387...61,422,995 		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: Retinitis pigmentosa 44 OMIM
ClinVar		 PMID:9536098 PMID:10581022 PMID:17576681 PMID:25741868 PMID:27623334 More... NCBI chr14:36,756,866...36,770,971
Ensembl chr14:36,756,866...36,770,921 		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 beta 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 45 OMIM
ClinVar		 PMID:9536098 PMID:11379879 PMID:15557452 PMID:16199547 PMID:17032466 More... NCBI chr 8:95,965,671...96,033,213
Ensembl chr 8:95,965,673...96,033,213 		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 3 (NAD+) beta ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 46		 OMIM
CTD
ClinVar		 PMID:18806796 PMID:25741868 PMID:28492532 PMID:31736247 NCBI chr 2:130,121,229...130,126,371
Ensembl chr 2:130,121,229...130,126,467 		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, retina and pineal gland (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 1:87,731,402...87,772,880
Ensembl chr 1:87,731,402...87,772,880 		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 chr17:47,692,526...47,703,892
Ensembl chr17:47,696,318...47,703,892 		JBrowse link
retinitis pigmentosa 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 49 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878 		JBrowse link
G Cnga1 cyclic nucleotide gated channel alpha 1 ISO
IAGP		 ClinVar Annotator: match by term: Retinitis pigmentosa 49
OMIM:613756		 OMIM
ClinVar
MouseDO		 PMID:7479749 PMID:12362048 PMID:15570217 PMID:18310263 PMID:23462753 More... NCBI chr 5:72,761,039...72,800,095
Ensembl chr 5:72,761,039...72,801,618 		JBrowse link
G Cngb1 cyclic nucleotide gated channel beta 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 49 ClinVar PMID:23661369 PMID:24938718 PMID:25741868 PMID:28492532 NCBI chr 8:95,965,671...96,033,213
Ensembl chr 8:95,965,673...96,033,213 		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 OMIM
ClinVar		 PMID:9700209 PMID:19853238 PMID:21330666 PMID:24560797 PMID:25741868 More... NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Fth1 ferritin heavy polypeptide 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 50 ClinVar PMID:25741868 PMID:28492532 NCBI chr19:9,957,964...9,962,475
Ensembl chr19:9,957,962...9,962,462 		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 chr12:98,886,796...98,949,509
Ensembl chr12:98,886,833...98,949,497 		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
IAGP		 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 chr17:72,050,919...72,059,904
Ensembl chr17:72,050,550...72,059,889 		JBrowse link
retinitis pigmentosa 55 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl6 ADP-ribosylation factor-like 6 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 55 OMIM
ClinVar		 PMID:15258860 PMID:17160889 PMID:19858128 PMID:19956407 PMID:20142850 More... NCBI chr16:59,433,312...59,459,772
Ensembl chr16:59,433,312...59,459,754 		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
IAGP		 ClinVar Annotator: match by term: Retinitis pigmentosa 56
OMIM:613581		 OMIM
ClinVar
MouseDO		 PMID:20673862 PMID:24876279 PMID:25741868 PMID:28492532 PMID:28559085 More... NCBI chr16:56,019,447...56,094,119
Ensembl chr16:56,024,676...56,094,119 		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, cGMP-specific, rod, gamma ISO ClinVar Annotator: match by term: Retinitis pigmentosa 57 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20655036 PMID:25741868 PMID:28492532 NCBI chr11:120,338,433...120,344,326
Ensembl chr11:120,338,431...120,344,326 		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 5:31,356,325...31,360,007
Ensembl chr 5:31,356,325...31,359,647 		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 4:133,406,319...133,484,682
Ensembl chr 4:133,406,319...133,484,080 		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 4:134,238,310...134,251,233
Ensembl chr 4:134,238,310...134,251,238 		JBrowse link
G Catsper4 cation channel, sperm associated 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,939,276...133,954,743
Ensembl chr 4:133,939,281...133,954,694 		JBrowse link
G Cd52 CD52 antigen ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,820,849...133,822,384
Ensembl chr 4:133,809,759...133,822,393 		JBrowse link
G Cep85 centrosomal protein 85 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,857,169...133,914,420
Ensembl chr 4:133,857,169...133,914,423 		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 4:133,955,352...133,965,737
Ensembl chr 4:133,955,352...133,965,710 		JBrowse link
G Crybg2 crystallin beta-gamma domain containing 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,788,042...133,819,815
Ensembl chr 4:133,788,126...133,819,815 		JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase ISO
IAGP		 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 4:133,696,339...133,728,267
Ensembl chr 4:133,696,339...133,728,229 		JBrowse link
G Extl1 exostosin-like glycosyltransferase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:134,083,684...134,099,893
Ensembl chr 4:134,083,683...134,111,161 		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 4:133,978,413...133,993,528
Ensembl chr 4:133,978,421...133,981,417 		JBrowse link
G Gpatch3 G patch domain containing 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,302,056...133,311,553
Ensembl chr 4:133,302,056...133,311,554 		JBrowse link
G Gpn2 GPN-loop GTPase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,311,684...133,319,046
Ensembl chr 4:133,311,673...133,319,046 		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 4:133,692,050...133,695,302
Ensembl chr 4:133,692,049...133,695,961 		JBrowse link
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,246,274...133,258,101
Ensembl chr 4:133,246,274...133,258,101 		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 4:134,468,865...134,495,342
Ensembl chr 4:134,468,865...134,495,335 		JBrowse link
G Lin28a lin-28 homolog A ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,730,641...133,746,504
Ensembl chr 4:133,730,641...133,746,152 		JBrowse link
G Man1c1 mannosidase, alpha, class 1C, member 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:134,289,001...134,432,987
Ensembl chr 4:134,289,001...134,431,601 		JBrowse link
G Mtfr1l mitochondrial fission regulator 1-like ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:134,252,866...134,262,698
Ensembl chr 4:134,252,861...134,262,698 		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 4:133,280,687...133,283,997
Ensembl chr 4:133,280,687...133,283,847 		JBrowse link
G Nudc nudC nuclear distribution protein ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,259,853...133,273,338
Ensembl chr 4:133,259,853...133,273,307 		JBrowse link
G Pafah2 platelet-activating factor acetylhydrolase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:134,123,631...134,154,723
Ensembl chr 4:134,123,631...134,154,724 		JBrowse link
G Paqr7 progestin and adipoQ receptor family member VII ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:134,224,315...134,237,548
Ensembl chr 4:134,224,008...134,237,546 		JBrowse link
G Pdik1l PDLIM1 interacting kinase 1 like ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:134,002,313...134,015,157
Ensembl chr 4:134,002,313...134,015,206 		JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,387,071...133,401,498
Ensembl chr 4:133,387,698...133,399,958 		JBrowse link
G Rps6ka1 ribosomal protein S6 kinase polypeptide 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,574,601...133,615,466
Ensembl chr 4:133,574,601...133,615,108 		JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:134,265,203...134,279,477
Ensembl chr 4:134,265,203...134,279,477 		JBrowse link
G Sfn stratifin ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,327,867...133,329,163
Ensembl chr 4:133,327,867...133,329,479 		JBrowse link
G Sh3bgrl3 SH3 domain binding glutamic acid-rich protein-like 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,854,717...133,856,044
Ensembl chr 4:133,854,717...133,856,100 		JBrowse link
G Slc30a2 solute carrier family 30 (zinc transporter), member 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:134,070,357...134,081,795
Ensembl chr 4:134,070,492...134,081,795 		JBrowse link
G Stmn1 stathmin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:134,195,631...134,201,154
Ensembl chr 4:134,195,631...134,201,154 		JBrowse link
G Trim63 tripartite motif-containing 63 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:134,042,431...134,056,940
Ensembl chr 4:134,042,431...134,056,940 		JBrowse link
G Ubxn11 UBX domain protein 11 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,829,811...133,854,095
Ensembl chr 4:133,829,881...133,854,904 		JBrowse link
G Zdhhc18 zinc finger, DHHC domain containing 18 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,331,969...133,360,801
Ensembl chr 4:133,332,610...133,377,465 		JBrowse link
G Zfp593 zinc finger protein 593 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,970,617...133,972,902
Ensembl chr 4:133,970,600...133,972,903 		JBrowse link
G Zfp683 zinc finger protein 683 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 59 ClinVar PMID:28492532 NCBI chr 4:133,778,506...133,786,252
Ensembl chr 4:133,781,149...133,786,307 		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:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		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 splicing factor 6 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 60 OMIM
ClinVar		 PMID:21549338 PMID:25741868 PMID:28492532 NCBI chr 2:181,243,112...181,297,454
Ensembl chr 2:181,233,661...181,297,453 		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 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		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: Retinitis pigmentosa 62 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21148103 PMID:21825139 More... NCBI chr13:41,178,483...41,233,182
Ensembl chr13:41,178,484...41,233,182 		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, interstitial ISO ClinVar Annotator: match by term: Retinitis pigmentosa 66 OMIM
ClinVar		 PMID:9614228 PMID:19074801 PMID:21067480 PMID:23105016 PMID:23486466 More... NCBI chr14:33,675,960...33,686,176
Ensembl chr14:33,675,960...33,686,173 		JBrowse link
retinitis pigmentosa 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nek2 NIMA (never in mitosis gene a)-related expressed kinase 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 67 OMIM
ClinVar		 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:191,553,622...191,565,161
Ensembl chr 1:191,553,556...191,565,162 		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 (cationic amino acid transporter, y+ system), member 14 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 68 OMIM
ClinVar		 PMID:24670872 PMID:25741868 PMID:28492532 PMID:32036094 NCBI chr 3:31,257,003...31,364,712
Ensembl chr 3:31,257,007...31,364,527 		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: Retinitis pigmentosa 69 OMIM
ClinVar		 PMID:24680887 PMID:25741868 PMID:28492532 PMID:28837078 PMID:29057815 More... NCBI chr 2:146,697,743...146,812,018
Ensembl chr 2:146,697,784...146,812,017 		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
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:608133		 OMIM
ClinVar
CTD
MouseDO		 PMID:1684223 PMID:7493155 PMID:7825692 PMID:7880786 PMID:7904791 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
G Rom1 rod outer segment membrane protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 7 | ClinVar Annotator: match by term: Retinitis pigmentosa 7, digenic		 OMIM
CTD
ClinVar		 PMID:7904211 PMID:8202715 PMID:16799052 PMID:25741868 PMID:28492532 NCBI chr19:8,904,746...8,906,720
Ensembl chr19:8,904,755...8,906,720 		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 processing factor 4 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 70 OMIM
ClinVar		 PMID:8090199 PMID:9536098 PMID:17576681 PMID:24419317 PMID:25741868 More... NCBI chr 4:62,327,002...62,345,227
Ensembl chr 4:62,327,034...62,345,227 		JBrowse link
retinitis pigmentosa 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ift172 intraflagellar transport 172 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 71 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24140113 PMID:25168386 More... NCBI chr 5:31,410,623...31,448,458
Ensembl chr 5:31,410,621...31,448,460 		JBrowse link
G Krtcap3 keratinocyte associated protein 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 71 ClinVar PMID:9536098 PMID:17576681 PMID:25168386 PMID:25741868 PMID:28492532 NCBI chr 5:31,409,050...31,410,541
Ensembl chr 5:31,409,035...31,410,546 		JBrowse link
retinitis pigmentosa 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp408 zinc finger protein 408 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 72 OMIM
ClinVar		 PMID:25741868 PMID:25882705 PMID:28492532 NCBI chr 2:91,473,101...91,480,372
Ensembl chr 2:91,474,014...91,480,136 		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 chr 8:26,432,495...26,466,704
Ensembl chr 8:26,434,481...26,466,781 		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 chr 8:94,794,580...94,825,997
Ensembl chr 8:94,794,582...94,825,556 		JBrowse link
retinitis pigmentosa 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl5 ATP/GTP binding protein-like 5 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 75 OMIM
ClinVar		 PMID:25741868 PMID:26355662 PMID:26720455 PMID:28492532 NCBI chr 5:31,045,321...31,064,008
Ensembl chr 5:31,046,038...31,064,309 		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 beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Retinitis pigmentosa 76 OMIM
ClinVar		 PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046 		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 4:116,019,078...116,024,818
Ensembl chr 4:116,019,066...116,024,798 		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 IAGP
ISO		 OMIM:617304
ClinVar Annotator: match by term: REEP6-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 77		 MouseDO
ClinVar
OMIM		 PMID:25741868 PMID:27889058 PMID:28369466 PMID:28475715 PMID:28492532 More... NCBI chr10:80,165,831...80,172,275
Ensembl chr10:80,165,787...80,172,275 		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: Retinitis pigmentosa 78 OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:28132693 PMID:28492532 PMID:32581362 NCBI chr 8:3,403,339...3,506,601
Ensembl chr 8:3,403,415...3,506,601 		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 chr10:62,104,634...62,215,699
Ensembl chr10:62,104,634...62,215,687 		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 chr17:25,235,056...25,318,461
Ensembl chr17:25,235,059...25,318,469 		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 chr12:86,129,335...86,209,233
Ensembl chr12:86,129,315...86,209,233 		JBrowse link
retinitis pigmentosa 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arl3 ADP-ribosylation factor-like 3 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 83 OMIM
ClinVar		 PMID:25741868 PMID:26964041 PMID:28492532 PMID:30932721 NCBI chr19:46,519,548...46,561,621
Ensembl chr19:46,519,535...46,561,637 		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: Retinitis pigmentosa 84 OMIM
ClinVar		 PMID:24737827 PMID:25741868 PMID:28492532 PMID:30208423 NCBI chr 8:110,274,631...110,292,493
Ensembl chr 8:110,274,643...110,292,493 		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: Retinitis pigmentosa 85 OMIM
ClinVar		 PMID:29726989 NCBI chr12:35,547,978...35,584,988
Ensembl chr12:35,547,973...35,585,037 		JBrowse link
retinitis pigmentosa 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G D630045J12Rik RIKEN cDNA D630045J12 gene ISO ClinVar Annotator: match by term: Retinitis pigmentosa 86 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30120214 NCBI chr 6:38,100,109...38,231,074
Ensembl chr 6:38,100,109...38,230,944 		JBrowse link
retinitis pigmentosa 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpe65 retinal pigment epithelium 65 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 87 with choroidal involvement OMIM
ClinVar		 PMID:9326941 PMID:9501220 PMID:9536098 PMID:9843205 PMID:10090910 More... NCBI chr 3:159,304,712...159,330,944
Ensembl chr 3:159,304,812...159,330,958 		JBrowse link
retinitis pigmentosa 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp1l1 retinitis pigmentosa 1 homolog like 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa 88 OMIM
ClinVar		 PMID:20826268 PMID:22504327 PMID:23281133 PMID:23619761 PMID:23745001 More... NCBI chr14:64,229,880...64,270,955
Ensembl chr14:64,229,955...64,272,474 		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 2:153,132,028...153,175,310
Ensembl chr 2:153,133,333...153,175,310 		JBrowse link
retinitis pigmentosa 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rp9 retinitis pigmentosa 9 (human) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa 9		 OMIM
CTD
ClinVar		 PMID:1479605 PMID:8025041 PMID:8513323 PMID:12032732 PMID:15474994 More... NCBI chr 9:22,359,607...22,379,652
Ensembl chr 9:22,322,343...22,381,039 		JBrowse link
retinitis pigmentosa 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Idh3a isocitrate dehydrogenase 3 (NAD+) alpha ISO ClinVar Annotator: match by term: Retinitis pigmentosa 90 OMIM
ClinVar		 PMID:25741868 PMID:28058510 PMID:28412069 PMID:28492532 PMID:30058936 More... NCBI chr 9:54,493,795...54,511,946
Ensembl chr 9:54,493,618...54,511,945 		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 chr10:62,218,916...62,259,490
Ensembl chr10:62,218,916...62,258,270 		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:28492532 PMID:30267408 NCBI chr 5:43,819,715...43,898,317
Ensembl chr 5:43,819,688...43,898,314 		JBrowse link
Retinitis Pigmentosa 96 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sag S-antigen, retina and pineal gland (arrestin) ISO OMIM NCBI chr 1:87,731,402...87,772,880
Ensembl chr 1:87,731,402...87,772,880 		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 chr14:79,086,489...79,439,750
Ensembl chr14:79,086,492...79,439,750 		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, CCA-adding, 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and erythrocytic microcytosis OMIM
ClinVar		 PMID:24033266 PMID:25193871 PMID:25652405 PMID:25741868 PMID:26494905 More... NCBI chr 6:106,746,099...106,759,435
Ensembl chr 6:106,746,081...106,759,435 		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 ADP-ribosylation factor-like 2 binding protein ISO
IAGP		 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 chr 8:95,393,228...95,401,085
Ensembl chr 8:95,393,228...95,401,053 		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 chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:9792552 PMID:10090882 PMID:32906214 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671 		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 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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 chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr10:60,182,630...60,266,073
Ensembl chr10:60,182,630...60,208,463 		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 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		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: RHYNS syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa syndrome OMIM
ClinVar		 PMID:2929661 PMID:9375913 PMID:17377820 PMID:17397051 PMID:18327255 More... NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020 		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 M2 B (TP53 inducible) 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 chr15:37,924,196...37,961,562
Ensembl chr15:37,924,196...37,961,562 		JBrowse link
Senior-Loken Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) 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 4:152,561,163...152,647,641
Ensembl chr 4:152,561,163...152,647,640 		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: 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:24447024 PMID:25741868 PMID:26843489 More... NCBI chr 2:31,560,727...31,571,593
Ensembl chr 2:31,560,727...31,571,361 		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 1700037C18Rik RIKEN cDNA 1700037C18 gene ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,723,662...3,726,553
Ensembl chr16:3,713,043...3,726,553 		JBrowse link
G 4930562C15Rik RIKEN cDNA 4930562C15 gene ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,653,280...4,685,555
Ensembl chr16:4,653,280...4,685,550 		JBrowse link
G Abca3 ATP-binding cassette, sub-family A member 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,570,997...24,629,178
Ensembl chr17:24,570,924...24,629,175 		JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,102,750...4,255,094
Ensembl chr16:4,105,393...4,238,362 		JBrowse link
G Amdhd2 amidohydrolase domain containing 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,374,807...24,382,752
Ensembl chr17:24,374,807...24,382,740 		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 chr16:4,759,290...4,783,362
Ensembl chr16:4,759,300...4,782,069 		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 chr17:26,009,474...26,011,761
Ensembl chr17:26,009,054...26,011,875 		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 chr17:26,418,157...26,420,324
Ensembl chr17:26,418,157...26,426,760 		JBrowse link
G Art2b ADP-ribosyltransferase 2b ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr 7:101,224,936...101,234,790
Ensembl chr 7:101,226,177...101,234,807 		JBrowse link
G Atp6v0c ATPase, H+ transporting, lysosomal V0 subunit C ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,382,839...24,388,652
Ensembl chr17:24,382,840...24,388,676 		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 chr17:26,350,294...26,414,784
Ensembl chr17:26,357,662...26,414,785 		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 chr17:25,461,633...25,475,255
Ensembl chr17:25,461,633...25,475,338 		JBrowse link
G Bicdl2 BICD family like cargo adaptor 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,863,663...23,887,595
Ensembl chr17:23,879,480...23,887,595 		JBrowse link
G Bricd5 BRICHOS domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,692,858...24,694,443
Ensembl chr17:24,692,858...24,694,443 		JBrowse link
G Cacna1h calcium channel, voltage-dependent, T type, alpha 1H subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,593,259...25,655,308
Ensembl chr17:25,593,259...25,652,759 		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 chr17:26,177,338...26,204,753
Ensembl chr17:26,177,338...26,204,770 		JBrowse link
G Caskin1 CASK interacting protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,706,871...24,727,883
Ensembl chr17:24,707,575...24,727,645 		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 chr17:25,381,142...25,390,887
Ensembl chr17:25,381,435...25,390,887 		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 chr17:26,005,554...26,009,487
Ensembl chr17:26,005,554...26,009,487 		JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,441,518...24,470,333
Ensembl chr17:24,441,172...24,470,458 		JBrowse link
G Cdip1 cell death inducing Trp53 target 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,583,325...4,608,156
Ensembl chr16:4,568,212...4,608,156 		JBrowse link
G Chtf18 CTF18, 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 chr17:25,938,004...25,946,409
Ensembl chr17:25,937,900...25,946,393 		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 chr17:25,992,750...26,002,306
Ensembl chr17:25,992,750...26,002,306 		JBrowse link
G Clcn7 chloride channel, voltage-sensitive 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078 		JBrowse link
G Cldn6 claudin 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,898,345...23,901,417
Ensembl chr17:23,898,223...23,901,420 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,901,558...23,903,000
Ensembl chr17:23,901,558...23,903,000 		JBrowse link
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,725,058...3,760,163
Ensembl chr16:3,726,665...3,759,011 		JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,444,748...4,497,584
Ensembl chr16:4,443,997...4,497,641 		JBrowse link
G Cramp1 cramped chromatin regulator 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,180,200...25,234,819
Ensembl chr17:25,180,200...25,234,762 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861 		JBrowse link
G Decr2 2-4-dienoyl-Coenzyme A reductase 2, peroxisomal ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,300,182...26,309,096
Ensembl chr17:26,300,182...26,309,311 		JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,782,152...4,796,827
Ensembl chr16:4,782,090...4,796,826
Ensembl chr16:4,782,090...4,796,826 		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 chr16:4,501,934...4,525,559
Ensembl chr16:4,457,853...4,525,559 		JBrowse link
G Dnase1 deoxyribonuclease I ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,855,007...3,857,888
Ensembl chr16:3,854,806...3,857,888 		JBrowse link
G Dnase1l2 deoxyribonuclease 1-like 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,659,054...24,662,075
Ensembl chr17:24,659,055...24,662,079 		JBrowse link
G E4f1 E4F transcription factor 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,662,752...24,674,366
Ensembl chr17:24,662,752...24,689,287 		JBrowse link
G Eci1 enoyl-Coenzyme A delta isomerase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,645,657...24,658,290
Ensembl chr17:24,645,615...24,658,322 		JBrowse link
G Elob elongin B ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,043,714...24,048,083
Ensembl chr17:24,043,712...24,048,110 		JBrowse link
G Eme2 essential meiotic structure-specific endonuclease subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,111,126...25,114,061
Ensembl chr17:25,107,460...25,114,061 		JBrowse link
G Fahd1 fumarylacetoacetate hydrolase domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,067,866...25,069,276
Ensembl chr17:25,067,866...25,069,338 		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 chr17:26,431,673...26,463,216
Ensembl chr17:26,430,796...26,463,216 		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 chr17:26,027,435...26,040,236
Ensembl chr17:26,028,059...26,040,229 		JBrowse link
G Flywch1 FLYWCH-type zinc finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,971,767...23,993,504
Ensembl chr17:23,971,767...23,990,576 		JBrowse link
G Flywch2 FLYWCH family member 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,995,888...24,005,190
Ensembl chr17:23,995,890...24,005,055 		JBrowse link
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,503 		JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,412,217...4,443,076
Ensembl chr16:4,412,577...4,442,788 		JBrowse link
G Gm41409 predicted gene, 41409 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,593,606...3,596,221
Ensembl chr16:3,588,318...3,603,593 		JBrowse link
G Gng13 guanine nucleotide binding protein (G protein), gamma 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,936,146...25,938,076
Ensembl chr17:25,936,145...25,938,380 		JBrowse link
G Gnptg N-acetylglucosamine-1-phosphotransferase, gamma subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,451,324...25,459,302
Ensembl chr17:25,452,305...25,459,098 		JBrowse link
G Hagh hydroxyacyl glutathione hydrolase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,056,863...25,083,424
Ensembl chr17:25,059,117...25,083,424 		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 chr17:25,998,817...26,004,560
Ensembl chr17:25,998,817...26,004,647 		JBrowse link
G Hcfc1r1 host cell factor C1 regulator 1 (XPO1-dependent) ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,892,570...23,894,499
Ensembl chr17:23,892,570...23,894,201 		JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,544,225...4,584,606
Ensembl chr16:4,544,225...4,584,606 		JBrowse link
G Hs3st6 heparan sulfate (glucosamine) 3-O-sulfotransferase 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,971,565...24,977,664
Ensembl chr17:24,971,962...24,977,658 		JBrowse link
G Ift140 intraflagellar transport 140 ISO
IAGP		 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:20301784 More... NCBI chr17:25,235,056...25,318,461
Ensembl chr17:25,235,059...25,318,469 		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 chr17:25,096,818...25,100,985
Ensembl chr17:25,084,971...25,100,984 		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 chr17:26,048,017...26,050,817
Ensembl chr17:26,047,841...26,050,817 		JBrowse link
G Jpt2 Jupiter microtubule associated homolog 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,161,444...25,179,597
Ensembl chr17:25,156,393...25,179,663 		JBrowse link
G Kctd5 potassium channel tetramerisation domain containing 5 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,266,694...24,292,459
Ensembl chr17:24,266,708...24,292,459 		JBrowse link
G Kremen2 kringle containing transmembrane protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,960,173...23,965,305
Ensembl chr17:23,960,171...23,964,807 		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 chr17:25,798,143...25,886,381
Ensembl chr17:25,798,059...25,881,800 		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 chr17:26,471,874...26,504,484
Ensembl chr17:26,471,870...26,504,478 		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 chr17:25,116,480...25,155,951
Ensembl chr17:25,111,127...25,155,942 		JBrowse link
G Mcrip2 MAPK regulated corepressor interacting protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,082,672...26,087,738
Ensembl chr17:26,082,672...26,087,738 		JBrowse link
G Mefv Mediterranean fever ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,524,838...3,536,073
Ensembl chr16:3,525,082...3,535,961 		JBrowse link
G Meiob meiosis specific with OB domains ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,023,275...25,058,762
Ensembl chr17:25,023,263...25,058,762 		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 chr17:26,013,545...26,016,019
Ensembl chr17:26,012,195...26,016,057 		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 chr17:26,094,474...26,096,137
Ensembl chr17:26,094,048...26,096,143 		JBrowse link
G Mgrn1 mahogunin, ring finger 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,703,964...4,756,160
Ensembl chr16:4,704,113...4,756,160 		JBrowse link
G Mlst8 MTOR associated protein, LST8 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,692,524...24,698,722
Ensembl chr17:24,692,525...24,698,052 		JBrowse link
G Mmp25 matrix metallopeptidase 25 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,847,289...23,864,006
Ensembl chr17:23,847,285...23,864,251 		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 chr17:26,342,477...26,345,587
Ensembl chr17:26,342,474...26,345,587 		JBrowse link
G Mrps34 mitochondrial ribosomal protein S34 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,114,094...25,115,263
Ensembl chr17:25,114,090...25,116,476 		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 chr17:25,967,587...25,973,352
Ensembl chr17:25,967,587...25,973,352 		JBrowse link
G Msrb1 methionine sulfoxide reductase B1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,955,567...24,961,752
Ensembl chr17:24,955,616...24,961,752 		JBrowse link
G Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,690,365...3,722,645
Ensembl chr16:3,690,239...3,722,634 		JBrowse link
G Ndufb10 NADH:ubiquinone oxidoreductase subunit B10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,941,034...24,943,397
Ensembl chr17:24,941,034...24,943,452 		JBrowse link
G Nherf2 NHERF family PDZ scaffold protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,858,255...24,869,279
Ensembl chr17:24,858,260...24,869,301 		JBrowse link
G Nhlrc4 NHL repeat containing 4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,161,207...26,163,905
Ensembl chr17:26,161,207...26,163,935 		JBrowse link
G Nlrc3 NLR family, CARD domain containing 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,762,871...3,796,881
Ensembl chr16:3,762,871...3,794,496 		JBrowse link
G Nme3 NME/NM23 nucleoside diphosphate kinase 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,115,474...25,116,505
Ensembl chr17:25,115,474...25,116,496 		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 chr17:26,310,708...26,314,650
Ensembl chr17:26,310,708...26,314,576 		JBrowse link
G Nmral1 NmrA-like family domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,529,181...4,537,220
Ensembl chr16:4,527,923...4,537,220 		JBrowse link
G Noxo1 NADPH oxidase organizer 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,915,208...24,919,504
Ensembl chr17:24,915,208...24,919,503 		JBrowse link
G Npw neuropeptide W ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,876,303...24,877,526
Ensembl chr17:24,876,304...24,877,431 		JBrowse link
G Nthl1 nth (endonuclease III)-like 1 (E.coli) ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,851,656...24,857,812
Ensembl chr17:24,851,654...24,857,811 		JBrowse link
G Ntn3 netrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,422,805...24,428,361
Ensembl chr17:24,422,822...24,428,505 		JBrowse link
G Nubp2 nucleotide binding protein 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:25,101,585...25,105,423
Ensembl chr17:25,101,585...25,105,323 		JBrowse link
G Nudt16l1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,756,975...4,758,892
Ensembl chr16:4,756,625...4,758,896 		JBrowse link
G Or1f19 olfactory receptor family 1 subfamily F member 19 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,410,262...3,411,203
Ensembl chr16:3,408,906...3,417,187 		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 chr16:3,656,839...3,657,777
Ensembl chr16:3,648,742...3,662,611 		JBrowse link
G Pam16 presequence translocase-asssociated motor 16 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,434,330...4,442,810
Ensembl chr16:4,434,328...4,442,852 		JBrowse link
G Paqr4 progestin and adipoQ receptor family member IV ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,955,160...23,959,873
Ensembl chr17:23,955,160...23,959,841 		JBrowse link
G Pdia2 protein disulfide isomerase associated 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,414,973...26,418,108
Ensembl chr17:26,414,973...26,418,061 		JBrowse link
G Pdpk1 3-phosphoinositide dependent protein kinase 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,292,654...24,370,957
Ensembl chr17:24,292,654...24,369,898 		JBrowse link
G Pgap6 post-glycosylphosphatidylinositol 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 chr17:26,332,290...26,342,228
Ensembl chr17:26,332,273...26,342,228 		JBrowse link
G Pgp phosphoglycolate phosphatase ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,689,400...24,692,084
Ensembl chr17:24,689,366...24,692,084 		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 chr17:26,145,398...26,161,855
Ensembl chr17:26,145,395...26,163,910 		JBrowse link
G Pkd1 polycystin 1, transient receptor potential channel interacting ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,767,657...24,815,457
Ensembl chr17:24,768,808...24,815,482 		JBrowse link
G Pkmyt1 protein kinase, membrane associated tyrosine/threonine 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,945,385...23,955,709
Ensembl chr17:23,945,310...23,955,709 		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 chr17:26,165,353...26,171,539
Ensembl chr17:26,165,361...26,171,539 		JBrowse link
G Prss21 serine protease 21 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,087,046...24,092,087
Ensembl chr17:24,087,030...24,092,088 		JBrowse link
G Prss22 serine protease 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,212,508...24,219,696
Ensembl chr17:24,212,508...24,217,074 		JBrowse link
G Prss27 serine protease 27 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,257,217...24,264,923
Ensembl chr17:24,257,118...24,264,928 		JBrowse link
G Prss33 serine protease 33 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,052,312...24,055,667
Ensembl chr17:24,052,321...24,055,030 		JBrowse link
G Prss41 serine protease 41 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,055,759...24,063,190
Ensembl chr17:24,055,759...24,063,146 		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 chr17:25,339,328...25,344,256
Ensembl chr17:25,339,734...25,344,266 		JBrowse link
G Rab11fip3 RAB11 family interacting protein 3 (class II) ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:26,208,010...26,289,010
Ensembl chr17:26,208,010...26,288,529 		JBrowse link
G Rab26 RAB26, member RAS oncogene family ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,748,038...24,752,696
Ensembl chr17:24,746,215...24,753,184 		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 chr17:26,101,088...26,138,688
Ensembl chr17:26,101,088...26,138,701 		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 chr17:26,421,500...26,430,295
Ensembl chr17:26,421,925...26,430,298 		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 chr17:26,053,439...26,056,101
Ensembl chr17:26,053,439...26,056,269 		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 chr17:26,057,431...26,063,499
Ensembl chr17:26,057,431...26,063,825 		JBrowse link
G Rnf151 ring finger protein 151 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,934,813...24,937,031
Ensembl chr17:24,934,813...24,937,037 		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 chr17:24,633,620...24,644,872
Ensembl chr17:24,633,539...24,644,875 		JBrowse link
G Rogdi rogdi homolog ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,826,593...4,831,438
Ensembl chr16:4,826,594...4,831,417 		JBrowse link
G Rpl3l ribosomal protein L3-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,946,800...24,955,117
Ensembl chr17:24,946,794...24,955,117 		JBrowse link
G Rps2 ribosomal protein S2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,939,037...24,940,901
Ensembl chr17:24,937,090...24,940,903 		JBrowse link
G Rpusd1 RNA pseudouridylate 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 chr17:25,943,758...25,950,438
Ensembl chr17:25,946,644...25,950,438 		JBrowse link
G Sbpl spermine binding protein-like ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,172,059...24,174,247
Ensembl chr17:24,172,058...24,174,248 		JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,804,722...4,815,716
Ensembl chr16:4,804,722...4,815,716 		JBrowse link
G Slx4 SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634 		JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,825,152...4,826,173
Ensembl chr16:4,825,152...4,826,173 		JBrowse link
G Snhg9 small nucleolar RNA host gene 9 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,938,505...24,938,939
Ensembl chr17:24,938,495...24,939,471 		JBrowse link
G Sox8 SRY (sex determining region Y)-box 8 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,784,865...25,789,666
Ensembl chr17:25,784,634...25,789,726 		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 chr17:25,104,956...25,111,124
Ensembl chr17:25,105,617...25,111,126 		JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,294,843...4,359,772
Ensembl chr16:4,298,080...4,359,680 		JBrowse link
G Srrm2 serine/arginine repetitive matrix 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,009,501...24,043,715
Ensembl chr17:24,009,506...24,043,715 		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 chr17:25,708,849...25,716,262
Ensembl chr17:25,708,847...25,733,577 		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 chr17:26,049,608...26,051,893
Ensembl chr17:26,049,479...26,052,378 		JBrowse link
G Syngr3 synaptogyrin 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,904,066...24,908,923
Ensembl chr17:24,904,066...24,908,929 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536 		JBrowse link
G Tbl3 transducin (beta)-like 3 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,919,627...24,926,627
Ensembl chr17:24,916,923...24,926,634 		JBrowse link
G Tedc2 tubulin epsilon and delta complex 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,434,028...24,439,825
Ensembl chr17:24,434,028...24,439,825 		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 chr17:25,318,543...25,334,951
Ensembl chr17:25,318,544...25,334,941 		JBrowse link
G Tfap4 transcription factor AP4 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,362,525...4,378,625
Ensembl chr16:4,362,525...4,377,718 		JBrowse link
G Thoc6 THO complex 6 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,887,592...23,892,891
Ensembl chr17:23,887,588...23,892,856 		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 chr17:25,276,676...25,300,088
Ensembl chr17:25,276,676...25,302,565 		JBrowse link
G Tnfrsf12a tumor necrosis factor receptor superfamily, member 12a ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,894,419...23,896,423
Ensembl chr17:23,894,419...23,896,442 		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 chr17:25,562,219...25,564,536
Ensembl chr17:25,562,212...25,564,541 		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 chr17:25,585,282...25,587,070
Ensembl chr17:25,585,170...25,588,079 		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 chr17:25,588,169...25,593,416
Ensembl chr17:25,588,235...25,593,417 		JBrowse link
G Traf7 TNF receptor-associated factor 7 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,727,824...24,746,912
Ensembl chr17:24,727,536...24,746,912 		JBrowse link
G Trap1 TNF receptor-associated protein 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,857,835...3,895,704
Ensembl chr16:3,857,835...3,895,691 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604 		JBrowse link
G Tsr3 TSR3 20S rRNA accumulation ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:19370764 PMID:20301784 PMID:22503633 PMID:23418020 PMID:24009529 More... NCBI chr17:25,459,120...25,461,773
Ensembl chr17:25,459,141...25,461,773 		JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,692,641...4,698,190
Ensembl chr16:4,692,642...4,698,179 		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 chr17:25,479,484...25,494,965
Ensembl chr17:25,479,482...25,493,856 		JBrowse link
G Unkl unkempt family 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 chr17:25,407,336...25,453,417
Ensembl chr17:25,407,371...25,453,417 		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 chr17:25,403,535...25,406,636
Ensembl chr17:25,403,528...25,406,636 		JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:4,457,809...4,469,030
Ensembl chr16:4,457,805...4,468,666 		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 chr 5:65,357,039...65,417,758
Ensembl chr 5:65,357,039...65,417,758 		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 chr17:26,042,601...26,047,704
Ensembl chr17:26,042,601...26,047,704 		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 chr17:26,063,708...26,080,489
Ensembl chr17:26,063,745...26,080,475 		JBrowse link
G Wfikkn1 WAP, FS, Ig, KU, and NTR-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 chr17:26,096,602...26,099,832
Ensembl chr17:26,096,602...26,099,832 		JBrowse link
G Zfp13 zinc finger protein 13 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,788,820...23,818,729
Ensembl chr17:23,794,818...23,818,461 		JBrowse link
G Zfp174 zinc finger protein 174 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,665,105...3,691,751
Ensembl chr16:3,665,132...3,676,744 		JBrowse link
G Zfp213 zinc finger protein 213 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,775,741...23,783,200
Ensembl chr17:23,775,741...23,783,212 		JBrowse link
G Zfp263 zinc finger protein 263 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,561,883...3,568,654
Ensembl chr16:3,561,957...3,568,654 		JBrowse link
G Zfp597 zinc finger protein 597 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr16:3,679,408...3,702,241
Ensembl chr16:3,676,185...3,702,425 		JBrowse link
G Zfp598 zinc finger protein 598 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:24,888,661...24,900,997
Ensembl chr17:24,888,661...24,900,990 		JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Saldino-Mainzer syndrome ClinVar PMID:28492532 NCBI chr17:23,819,800...23,829,993
Ensembl chr17:23,819,830...23,829,993 		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 PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr10:85,884,610...86,336,730
Ensembl chr10:85,890,989...86,334,760 		JBrowse link
G Timp3 tissue inhibitor of metalloproteinase 3 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sorsby fundus dystrophy
OMIM:136900		 OMIM
CTD
ClinVar
MouseDO		 PMID:7148944 PMID:7894485 PMID:8634721 PMID:8639088 PMID:8919688 More... NCBI chr10:86,136,276...86,185,369
Ensembl chr10:86,136,236...86,185,370 		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 1, choline, alpha isoform ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome		 OMIM
CTD
ClinVar		 PMID:15326626 PMID:21412974 PMID:24387990 PMID:24387991 PMID:25741868 More... NCBI chr16:32,249,739...32,293,883
Ensembl chr16:32,249,739...32,293,888 		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, sub-family A member 4 susceptibility
treatment		 ISO
IMP		 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:8533764 PMID:9054934 PMID:9295268 PMID:9466990 More... RGD:7829716, RGD:7815046, RGD:7815046, RGD:7815045 NCBI chr 3:121,837,547...121,973,719
Ensembl chr 3:121,838,092...121,973,772 		JBrowse link
G Abcb4 ATP-binding cassette, sub-family B member 4 ISO ClinVar Annotator: match by term: Stargardt disease 1 ClinVar PMID:12891548 PMID:18482588 PMID:19467940 PMID:20537830 PMID:23022423 More... NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231 		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 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602 		JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:10854112 PMID:16754206 PMID:18179881 PMID:21192766 PMID:21273940 More... NCBI chr19:9,962,536...9,978,997
Ensembl chr19:9,962,538...9,978,997 		JBrowse link
G Cngb3 cyclic nucleotide gated channel 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 PMID:1347967 PMID:10888875 PMID:10958649 PMID:12815043 PMID:14757870 More... NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623 		JBrowse link
G Kcnv2 potassium channel, subfamily V, member 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus ClinVar PMID:8333273 PMID:18235024 PMID:30718709 NCBI chr19:27,299,461...27,314,579
Ensembl chr19:27,299,988...27,314,579 		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 3:40,772,500...40,801,322
Ensembl chr 3:40,772,538...40,801,321 		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 chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		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 chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt disease 1
ClinVar Annotator: match by term: Fundus flavimaculatus | ClinVar Annotator: match by term: Stargardt Disease, Recessive | ClinVar Annotator: match by term: Stargardt disease 1		 ClinVar PMID:279751 PMID:4142662 PMID:7493155 PMID:7519821 PMID:7825692 More... NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		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 6:115,903,741...115,916,999
Ensembl chr 6:115,908,709...115,916,997 		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:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More... NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr11:109,364,159...109,464,156
Ensembl chr11:109,364,200...109,464,156 		JBrowse link
G Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 6:83,719,999...83,735,837
Ensembl chr 6:83,719,972...83,735,837 		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 chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,061,619...185,089,974
Ensembl chr 1:185,064,346...185,089,974 		JBrowse link
G C130074G19Rik RIKEN cDNA C130074G19 gene ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,604,123...184,615,233
Ensembl chr 1:184,604,123...184,615,415 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:4,185,422...4,189,608
Ensembl chr19:4,185,422...4,194,032 		JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) 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:9536098 PMID:11090341 PMID:11138009 More... RGD:8547536 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 NCBI chr 2:155,798,197...155,840,820
Ensembl chr 2:155,798,378...155,840,820 		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 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD		 PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 More... RGD:8547535 NCBI chr 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554 		JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 5:108,794,910...108,808,696
Ensembl chr 5:108,794,559...108,817,538 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:183,766,575...183,807,833
Ensembl chr 1:183,745,499...183,807,833 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,093,614...185,160,557
Ensembl chr 1:185,095,241...185,160,557 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:187,340,707...187,947,082
Ensembl chr 1:187,340,988...187,947,082 		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 6:38,511,796...38,516,384
Ensembl chr 6:38,510,437...38,516,384 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Dystrophia retinae pigmentosa-dysostosis syndrome | ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:28041643 NCBI chr 1:186,946,855...187,103,839
Ensembl chr 1:186,947,705...187,083,901 		JBrowse link
G Guca1a guanylate cyclase activator 1a (retina) ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chr17:47,705,482...47,724,439
Ensembl chr17:47,705,483...47,711,509 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr  X:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		JBrowse link
G Hhipl2 hedgehog interacting protein-like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:183,195,395...183,217,962
Ensembl chr 1:183,199,147...183,217,717 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,459,340...184,464,690
Ensembl chr 1:184,459,337...184,464,816 		JBrowse link
G Iars2 isoleucine-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,018,839...185,061,615
Ensembl chr 1:185,016,923...185,061,593 		JBrowse link
G Luc7l2 LUC7-like 2 (S. cerevisiae) ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 6:38,522,996...38,586,888
Ensembl chr 6:38,528,269...38,586,405 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,819,929...185,849,507
Ensembl chr 1:185,819,928...185,849,507 		JBrowse link
G Mark1 MAP/microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,628,621...184,732,152
Ensembl chr 1:184,628,986...184,731,767 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,045,516...185,045,582
Ensembl chr 1:185,045,516...185,045,582 		JBrowse link
G Mir215 microRNA 215 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,045,778...185,045,889
Ensembl chr 1:185,045,778...185,045,889 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,518,964...184,543,622
Ensembl chr 1:184,518,964...184,543,394 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,545,263...184,579,266
Ensembl chr 1:184,545,265...184,578,648 		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: 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:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... RGD:8547536 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:120,682,647...120,762,316
Ensembl chr 7:120,680,873...120,762,320 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pcdh15 protocadherin 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 chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Pde6a phosphodiesterase 6A, cGMP-specific, rod, alpha ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chr18:61,353,546...61,426,698
Ensembl chr18:61,353,387...61,422,995 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		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 chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,453,283...186,481,555
Ensembl chr 1:186,453,175...186,481,555 		JBrowse link
G Serpinb6a serine (or cysteine) peptidase inhibitor, clade B, member 6a ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr13:34,101,901...34,186,777
Ensembl chr13:34,101,901...34,186,777 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,187,045...185,200,959
Ensembl chr 1:185,187,045...185,200,959 		JBrowse link
G Snora36b small nucleolar RNA, H/ACA box 36B ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,975,123...184,975,235
Ensembl chr 1:184,975,104...184,975,235 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,741,811...186,947,705
Ensembl chr 1:186,776,845...186,947,662 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I, A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:183,170,251...183,195,776
Ensembl chr 1:183,170,325...183,191,020 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
G Ush1c USH1 protein network component harmonin treatment ISO
IMP		 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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		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 chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		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:9536098 PMID:9624053 More... RGD:8547535, RGD:8547956 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		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 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		JBrowse link
G Zdhhc24 zinc finger, DHHC domain containing 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr19:4,928,696...4,935,425
Ensembl chr19:4,928,696...4,935,425 		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 chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		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 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Myo7a myosin VIIA ISO
IAGP		 DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
OMIM:276900		 ClinVar
MouseDO
RGD		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... RGD:8694152 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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 chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		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 chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (otocadherin) 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:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Myo7a myosin VIIA treatment ISO
IMP		 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:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... RGD:1581470, RGD:8694151, RGD:8694151, RGD:8694137, RGD:8694135 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Pcdh15 protocadherin 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 I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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 chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		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
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Usher syndrome type 1C
OMIM:276904
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)		 OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:1600453 NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (otocadherin) ISO
IAGP		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism
OMIM:601067		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:2289998 PMID:9536098 PMID:11090341 PMID:11138009 PMID:11857743 More... RGD:8662279 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Gm17455 predicted gene, 17455 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:15537665 PMID:15660226 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Pcdh15 protocadherin 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 chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D		 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr10:60,182,630...60,266,073
Ensembl chr10:60,182,630...60,208,463 		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 15 ISO
IAGP		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F
CTD Direct Evidence: marker/mechanism
OMIM:602083		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Ush1g USH1 protein network component sans ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G
OMIM:606943		 OMIM
CTD
ClinVar
MouseDO		 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		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:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 More... NCBI chr 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		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: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828 		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 chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 PMID:32531858 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		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 chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Kctd3 potassium channel tetramerisation domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr 1:188,703,292...188,740,095
Ensembl chr 1:188,703,292...188,740,038 		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:25741868 PMID:26849169 PMID:28492532 PMID:29048736 More... NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		JBrowse link
G Ush2a usherin susceptibility ISO
IAGP		 ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
OMIM:276901
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... RGD:8547987, RGD:8547961 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		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
IAGP		 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:605472		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		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 4:133,955,352...133,965,737
Ensembl chr 4:133,955,352...133,965,710 		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 1:65,110,684...65,112,691
Ensembl chr 1:65,110,684...65,112,848 		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 chr 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587 		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:25741868 PMID:26416264 PMID:26467025 More... NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		JBrowse link
G Slc4a7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 IAGP OMIM:605472 MouseDO NCBI chr14:7,669,819...7,766,808
Ensembl chr14:7,669,823...7,767,484 		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 chr18:32,970,241...33,000,008
Ensembl chr18:32,970,278...33,000,647 		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
IAGP		 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:17171570 PMID:17576681 More... NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		JBrowse link
Usher syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO
IAGP		 ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar
MouseDO		 PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		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
IAGP		 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 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		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 chr18:36,896,724...36,899,267
Ensembl chr18:36,896,724...36,899,267 		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 chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr18:36,916,257...36,925,615
Ensembl chr18:36,916,061...36,925,615 		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 chr11:109,364,159...109,464,156
Ensembl chr11:109,364,200...109,464,156 		JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, 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 chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482 		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:19357117 PMID:22135276 PMID:22147658 More... NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		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 chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		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 chr18:32,970,241...33,000,008
Ensembl chr18:32,970,278...33,000,647 		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 (otocadherin) 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 chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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 pre B cell leukemia homeobox 3 ISO ClinVar Annotator: match by term: X-linked cone-rod dystrophy ClinVar NCBI chr 2:34,061,469...34,264,168
Ensembl chr 2:34,061,469...34,263,154 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO
IAGP
IMP		 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:10937588 PMID:11857109 More... RGD:8553225, RGD:8553232, RGD:8553227 NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		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 channel, voltage-dependent, alpha 1F subunit 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:7,473,342...7,501,435
Ensembl chr  X:7,473,322...7,501,435 		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:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16184
    sensory system disease 7050
      eye disease 3716
        fundus dystrophy 726
          Bothnia retinal dystrophy 1
          Boucher-Neuhauser syndrome 2
          Ghose Sachdev Kumar Syndrome 0
          Myoectodermal Gonadal Dysgenesis Syndrome 3
          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 Dystrophy of Retinal Pigment Epithelium 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 + 12
          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 + 124
          dominant pericentral pigmentary retinopathy 0
          dystrophies primarily involving the retinal pigment epithelium + 5
          fundus albipunctatus 6
          hereditary retinal dystrophy + 4
          retinal dystrophies primarily involving Bruch's membrane 0
          retinal dystrophy in systemic or cerebroretinal lipidoses 0
          retinitis pigmentosa + 625
          vitreoretinal dystrophy 0
Path 2
Term Annotations click to browse term
  disease 16184
    disease of anatomical entity 15800
      nervous system disease 13698
        Neurologic Manifestations 10079
          sensory system disease 7050
            eye disease 3716
              retinal disease 1413
                retinal degeneration 866
                  fundus dystrophy 726
                    Bothnia retinal dystrophy 1
                    Boucher-Neuhauser syndrome 2
                    Ghose Sachdev Kumar Syndrome 0
                    Myoectodermal Gonadal Dysgenesis Syndrome 3
                    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 Dystrophy of Retinal Pigment Epithelium 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 + 12
                    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 + 124
                    dominant pericentral pigmentary retinopathy 0
                    dystrophies primarily involving the retinal pigment epithelium + 5
                    fundus albipunctatus 6
                    hereditary retinal dystrophy + 4
                    retinal dystrophies primarily involving Bruch's membrane 0
                    retinal dystrophy in systemic or cerebroretinal lipidoses 0
                    retinitis pigmentosa + 625
                    vitreoretinal dystrophy 0
paths to the root