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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:Vision Disorders
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Accession:DOID:9000343 term browser browse the term
Definition:Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132).
Synonyms:exact_synonym: Day Blindness;   Hemeralopia;   Macropsia;   Macropsias;   Metamorphopsia;   Metamorphopsias;   Micropsia;   Micropsias;   Vision Disabilities;   Vision Disability;   Vision Disorder;   Visual Disorder;   hemeralopias;   visual disorders;   visual impairment;   visual impairments
 primary_id: MESH:D014786
For additional species annotation, visit the Alliance of Genome Resources.


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Vision Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:9054934, PMID:9295268, PMID:9466990, PMID:9666097, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10413692, PMID:10711710, PMID:10958761, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11379881, PMID:11527935, PMID:11702214, PMID:12192456, PMID:12796258, PMID:14517951, PMID:15579991, PMID:15614537, PMID:16103129, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:19217903, PMID:20696155, PMID:22264887, PMID:22312191, PMID:22328824, PMID:23443024, PMID:23591405, PMID:23695285, PMID:23755871, PMID:23769331, PMID:23918662, PMID:24033266, PMID:24265693, PMID:24509150, PMID:24713488, PMID:24938718, PMID:25082885, PMID:25087612, PMID:25097241, PMID:25283059, PMID:25312043, PMID:25412400, PMID:25525159, PMID:25712131, PMID:25741868, PMID:26092729, PMID:26103963, PMID:26161775, PMID:26229699, PMID:26261413, PMID:26593885, PMID:26780318, PMID:26872967, PMID:26976702, PMID:27367509, PMID:27739528, PMID:27775217, PMID:27820952, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28492532, PMID:28559085, PMID:29114839, PMID:29162642, PMID:29186038, PMID:29310964, PMID:29461686, PMID:29555955, PMID:29847635, PMID:29854428, PMID:29925512, PMID:30311386, PMID:30337596, PMID:30718709, PMID:31576780 NCBI chr 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123
JBrowse link
G Atxn7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chr14:13,961,283...14,107,316
Ensembl chr14:13,961,440...14,107,302
JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:21273940, PMID:30311386 NCBI chr19:9,985,172...10,001,633
Ensembl chr19:9,985,174...10,001,633
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:12404109, PMID:18305125, PMID:19249007, PMID:19685083, PMID:24429398, PMID:28492532, PMID:30311386 NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669
JBrowse link
G Braf Braf transforming gene ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 6:39,603,231...39,725,658
Ensembl chr 6:39,603,237...39,725,463
JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr  X:7,607,103...7,635,196
Ensembl chr  X:7,607,083...7,635,196
JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 8:106,510,852...106,556,911
Ensembl chr 8:106,510,891...106,557,297
JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:23591405, PMID:24033266, PMID:25741868, PMID:26766544, PMID:27353947, PMID:28041643, PMID:28224992, PMID:28492532, PMID:28765526, PMID:28885867, PMID:30311386, PMID:30718709 NCBI chr14:37,077,849...37,098,347
Ensembl chr14:37,077,857...37,098,347
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 4:8,690,402...8,868,449
Ensembl chr 4:8,690,406...8,867,659
JBrowse link
G Cln6 ceroid-lipofuscinosis, neuronal 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23789114 NCBI chr 9:62,838,785...62,852,006
Ensembl chr 9:62,838,785...62,852,006
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:17693388, PMID:23972307, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30682209 NCBI chr 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
G Col1a1 collagen, type I, alpha 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868, PMID:30311386 NCBI chr11:94,936,224...94,953,042
Ensembl chr11:94,936,224...94,953,042
JBrowse link
G Col4a5 collagen, type IV, alpha 5 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:9848783, PMID:11223851, PMID:17396119, PMID:19728970, PMID:19965530, PMID:20378821, PMID:21332469, PMID:24470729, PMID:25741868, PMID:26467025, PMID:26809805, PMID:26934356, PMID:28492532, PMID:28844315, PMID:29854973, PMID:30311386 NCBI chr  X:141,475,370...141,689,236
Ensembl chr  X:141,475,385...141,689,234
JBrowse link
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 9:108,953,586...108,984,875
Ensembl chr 9:108,953,586...108,984,875
JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 3:19,956,933...20,009,750
Ensembl chr 3:19,957,054...20,009,145
JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:10508521, PMID:15024725, PMID:20956273, PMID:22968130, PMID:23449718, PMID:24512366, PMID:24715753, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr 1:139,176,649...139,379,316
Ensembl chr 1:139,197,056...139,377,100
JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 7:15,865,947...15,879,955
Ensembl chr 7:15,865,947...15,879,968
JBrowse link
G Ctnna1 catenin (cadherin associated protein), alpha 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:28041643, PMID:28492532, PMID:30311386 NCBI chr18:35,118,902...35,254,776
Ensembl chr18:35,118,859...35,254,779
JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr  X:75,170,344...75,382,738
Ensembl chr  X:75,172,715...75,382,615
JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 7:89,404,366...89,410,110
Ensembl chr 7:89,404,355...89,413,134
JBrowse link
G Hgsnat heparan-alpha-glucosaminide N-acetyltransferase ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:17033958, PMID:19479962, PMID:20583299, PMID:25741868, PMID:25859010, PMID:28041643, PMID:28492532, PMID:30311386 NCBI chr 8:25,944,459...25,976,744
Ensembl chr 8:25,944,453...25,976,753
JBrowse link
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 3:19,995,945...20,035,334
Ensembl chr 3:19,995,945...20,035,315
JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr16:56,203,839...56,273,753
Ensembl chr16:56,204,313...56,273,756
JBrowse link
G Jag1 jagged 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 2:137,081,451...137,116,520
Ensembl chr 2:137,081,456...137,116,644
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868 NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544
JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386, PMID:31965079 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: Visual impairment ClinVar PMID:24033266, PMID:30311386 NCBI chr 7:98,051,054...98,119,522
Ensembl chr 7:98,051,060...98,119,524
JBrowse link
G Notch3 notch 3 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:9388399, PMID:10227618, PMID:10371548, PMID:10854111, PMID:10969905, PMID:11486103, PMID:11715067, PMID:11755616, PMID:11771160, PMID:12810003, PMID:15350543, PMID:15364702, PMID:15378071, PMID:16009764, PMID:19417009, PMID:19825845, PMID:20301673, PMID:22019870, PMID:22623959, PMID:25604251, PMID:25741868, PMID:25819272, PMID:26261665, PMID:26467025, PMID:30311386 NCBI chr17:32,120,820...32,166,896
Ensembl chr17:32,120,820...32,166,852
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr 9:59,942,771...59,960,834
Ensembl chr 9:59,942,771...59,960,659
JBrowse link
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr13:78,188,971...78,198,873
Ensembl chr13:78,188,973...78,199,757
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:19142205, PMID:19877282, PMID:22871920, PMID:24016303, PMID:25741868, PMID:27302843, PMID:28492532, PMID:30311386 NCBI chr17:46,711,476...46,725,543
Ensembl chr17:46,711,463...46,725,541
JBrowse link
G Phf3 PHD finger protein 3 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:30,802,342...30,873,922
Ensembl chr 1:30,802,339...30,873,921
JBrowse link
G Pomgnt1 protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:28492532, PMID:30311386 NCBI chr 4:116,150,498...116,159,844
Ensembl chr 4:116,123,840...116,159,849
JBrowse link
G Prpf6 pre-mRNA splicing factor 6 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 2:181,601,319...181,655,661
Ensembl chr 2:181,591,868...181,655,660
JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr11:75,486,777...75,509,447
Ensembl chr11:75,486,816...75,509,449
JBrowse link
G Prss23 protease, serine 23 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 7:89,507,783...89,527,187
Ensembl chr 7:89,507,783...89,527,187
JBrowse link
G Rbp4 retinol binding protein 4, plasma ISO retinol-binding protein deficiency;DNA:point mutation:exon:p.I41N, p.G75D (human) RGD PMID:9888420 RGD:1601613 NCBI chr19:38,116,620...38,125,321
Ensembl chr19:38,116,629...38,125,281
JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr12:79,208,913...79,222,664
Ensembl chr12:79,208,914...79,222,665
JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:10581022, PMID:25741868, PMID:27623334, PMID:28492532, PMID:30311386, PMID:30337596 NCBI chr14:37,034,909...37,049,014
Ensembl chr14:37,034,909...37,048,964
JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 6:115,926,754...115,940,038
Ensembl chr 6:115,931,748...115,940,036
JBrowse link
G Rp1 retinitis pigmentosa 1 (human) ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:18791550, PMID:25741868, PMID:28492532 NCBI chr 1:4,115,673...4,409,266
Ensembl chr 1:3,999,557...4,409,241
JBrowse link
G Rp1l1 retinitis pigmentosa 1 homolog like 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:20826268, PMID:22504327, PMID:23281133, PMID:23619761, PMID:23745001, PMID:25908487, PMID:26782618, PMID:27623337, PMID:30025130, PMID:30311386 NCBI chr14:63,992,431...64,033,506
Ensembl chr14:63,992,506...64,035,025
JBrowse link
G Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868 NCBI chr14:52,104,241...52,161,339
Ensembl chr14:52,110,704...52,163,546
JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr18:73,634,790...73,703,791
Ensembl chr18:73,639,009...73,703,780
JBrowse link
G Snrnp200 small nuclear ribonucleoprotein 200 (U5) ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 2:127,208,386...127,240,453
Ensembl chr 2:127,208,386...127,240,451
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:10508989, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:27491411, PMID:28492532, PMID:30311386 NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,355...12,090,020
JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 6:115,544,659...115,578,350
Ensembl chr 6:115,544,664...115,578,628
JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 7:3,693,087...3,701,035
Ensembl chr 7:3,692,863...3,701,024
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr11:115,813,728...115,823,102
Ensembl chr11:115,814,724...115,823,094
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:28492532, PMID:30311386 NCBI chr 4:116,161,881...116,167,621
Ensembl chr 4:116,161,869...116,167,601
JBrowse link
G Ttpa tocopherol (alpha) transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 4:20,007,894...20,030,822
Ensembl chr 4:20,007,938...20,030,785
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
JBrowse link
G Vmn2r17 vomeronasal 2, receptor 17 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:109,420,013...109,453,387
Ensembl chr 5:109,419,688...109,458,459
JBrowse link
achromatopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:24033266, PMID:28041643 NCBI chr 1:170,704,457...170,868,585
Ensembl chr 1:170,704,674...170,867,771
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807, PMID:23714322, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chr19:4,135,423...4,144,080
Ensembl chr19:4,135,423...4,144,033
JBrowse link
G Cacna2d4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:119,236,524...119,352,407
Ensembl chr 6:119,236,526...119,352,407
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20079539, PMID:20238023, PMID:20506298, PMID:20549516, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24903488, PMID:25168900, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26992781, PMID:27820752, PMID:28159970, PMID:28341476, PMID:28492532, PMID:28559085, PMID:29053603, PMID:30311386, PMID:30682209 NCBI chr 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967, PMID:1572225, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25558176, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:27479814, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709 NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
G Gnat2 guanine nucleotide binding protein, alpha transducing 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 3:108,086,788...108,101,432
Ensembl chr 3:108,092,789...108,101,432
JBrowse link
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime ISO
IEA
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:10393054, PMID:18614542, PMID:19615668, PMID:19887631, PMID:23776498, PMID:25741868, PMID:26103963, PMID:28041643, PMID:28492532, PMID:28704108, PMID:30080950 NCBI chr19:38,132,781...38,183,955
Ensembl chr19:38,132,781...38,183,958
JBrowse link
Achromatopsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17693388, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24903488, PMID:25616768, PMID:25741868, PMID:25943428, PMID:26992781, PMID:28492532, PMID:30311386, PMID:30682209, PMID:18521937 RGD:9068452 NCBI chr 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 treatment ISO
IMP
DNA:deletion: :c.1148delC (human)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25558176, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709, PMID:17265047, PMID:21576125, PMID:21576125 RGD:9068446, RGD:9068450, RGD:9068450 NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
achromatopsia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 ISO ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO
IEA
ClinVar Annotator: match by term: Achromatopsia 2
ClinVar Annotator: match by term: Rod monochromacy 2
OMIM:216900
ClinVar Annotator: match by OMIM:216900
OMIM
ClinVar
MouseDO
PMID:9662398, PMID:11536077, PMID:14715947, PMID:14757870, PMID:15712225, PMID:15980212, PMID:16961972, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20079539, PMID:20238023, PMID:20549516, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24676353, PMID:24903488, PMID:24906859, PMID:25168900, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26106334, PMID:26407004, PMID:26992781, PMID:28041643, PMID:28159970, PMID:28492532, PMID:29099798, PMID:30289319, PMID:30311386, PMID:30337596, PMID:30682209 NCBI chr 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709 NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
achromatopsia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cngb3 cyclic nucleotide gated channel beta 3 ISO
IEA
ClinVar Annotator: match by term: Achromatopsia 3
ClinVar Annotator: match by term: Total colorblindness with myopia
OMIM:262300
ClinVar Annotator: match by term: ROD MONOCHROMATISM 1
ClinVar Annotator: match by OMIM:262300
OMIM
ClinVar
MouseDO
PMID:1347967, PMID:1572225, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12357335, PMID:12815043, PMID:14757870, PMID:15223812, PMID:15459792, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:19592100, PMID:20079539, PMID:20574029, PMID:22264887, PMID:23776498, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25474149, PMID:25558076, PMID:25558176, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:26992781, PMID:27479814, PMID:27874104, PMID:28005958, PMID:28041643, PMID:28224992, PMID:28492532, PMID:28795510, PMID:29186038, PMID:29769798, PMID:30311386, PMID:30337596, PMID:30718709 NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat2 guanine nucleotide binding protein, alpha transducing 2 ISO
IEA
ClinVar Annotator: match by term: Achromatopsia 4
OMIM:613856
ClinVar Annotator: match by OMIM:613856
OMIM
ClinVar
MouseDO
PMID:12077706, PMID:12205108, PMID:15557429, PMID:21107338, PMID:25741868, PMID:28492532 NCBI chr 3:108,086,788...108,101,432
Ensembl chr 3:108,092,789...108,101,432
JBrowse link
Achromatopsia 5 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: Achromatopsia 5 ClinVar PMID:19887631, PMID:25741868, PMID:30080950 NCBI chr19:38,132,781...38,183,955
Ensembl chr19:38,132,781...38,183,958
JBrowse link
achromatopsia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia 7 OMIM
ClinVar
PMID:24824130, PMID:26029869, PMID:26063662 NCBI chr 1:170,704,457...170,868,585
Ensembl chr 1:170,704,674...170,867,771
JBrowse link
Amaurosis Fugax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO RGD PMID:15073384 RGD:1582361 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A IEP mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chr 7:45,522,917...45,526,268
Ensembl chr 7:45,522,916...45,526,268
JBrowse link
amblyopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:64,729,125...64,731,245
Ensembl chr 6:64,729,125...64,731,245
JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:30311386 NCBI chr  X:7,607,103...7,635,196
Ensembl chr  X:7,607,083...7,635,196
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 5:51,454,249...52,115,853
Ensembl chr 5:51,454,250...51,567,726
JBrowse link
G Tfap2a transcription factor AP-2, alpha ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868 NCBI chr13:40,713,802...40,738,238
Ensembl chr13:40,715,302...40,738,376
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr11:115,813,728...115,823,102
Ensembl chr11:115,814,724...115,823,094
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain transcription factor 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome
ClinVar Annotator: match by OMIM:301835
OMIM
ClinVar
PMID:8498830, PMID:17701896, PMID:22246954, PMID:24033266, PMID:24528855, PMID:25741868, PMID:28492532 NCBI chr  X:140,456,603...140,476,140
Ensembl chr  X:140,456,613...140,476,140
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
PMID:10679252, PMID:11295831, PMID:12022290, PMID:15605410, PMID:16648378, PMID:17492394, PMID:18544103, PMID:19877185, PMID:20069065, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21538838, PMID:21917145, PMID:22238590, PMID:24033266, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:26467025, PMID:26875006, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044 NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 ISO ClinVar Annotator: match by term: Legal blindness
ClinVar Annotator: match by term: Vision loss
ClinVar PMID:9054934, PMID:9466990, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10711710, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11527935, PMID:11702214, PMID:12192456, PMID:12796258, PMID:15579991, PMID:16103129, PMID:16303926, PMID:19074458, PMID:19217903, PMID:21911583, PMID:22264887, PMID:22312191, PMID:22995991, PMID:23755871, PMID:23769331, PMID:23918662, PMID:24033266, PMID:24509150, PMID:24713488, PMID:25087612, PMID:25712131, PMID:25741868, PMID:26103963, PMID:26229699, PMID:26593885, PMID:27014590, PMID:27367509, PMID:27820952, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29114839, PMID:29186038, PMID:29847635, PMID:30311386, PMID:30718709 NCBI chr 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123
JBrowse link
G Aipl1 aryl hydrocarbon receptor-interacting protein-like 1 susceptibility ISO RGD PMID:10873396 RGD:1599003 NCBI chr11:72,028,717...72,042,460
Ensembl chr11:72,027,963...72,037,509
JBrowse link
G Aqp4 aquaporin 4 ISO associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chr18:15,389,394...15,410,982
Ensembl chr18:15,389,496...15,410,982
JBrowse link
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Legal blindness ClinVar PMID:25558065, PMID:27270415 NCBI chr 8:124,722,026...124,742,794
Ensembl chr 8:124,722,139...124,734,123
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chr 1:71,557,156...71,579,403
Ensembl chr 1:71,557,150...71,579,631
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:17345604, PMID:17564967, PMID:20683928, PMID:21866095, PMID:23188109, PMID:25741868, PMID:25920555, PMID:26092869, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Vision loss ClinVar PMID:14681825, PMID:21151602, PMID:22164218, PMID:24043777, PMID:24625443, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:221642182 NCBI chr 2:79,332,491...79,428,988
Ensembl chr 2:79,330,543...79,456,785
JBrowse link
G Col4a3 collagen, type IV, alpha 3 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr 1:82,586,921...82,722,059
Ensembl chr 1:82,586,921...82,722,059
JBrowse link
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr11:28,853,154...28,926,743
Ensembl chr11:28,853,204...28,926,743
JBrowse link
G Lca5 Leber congenital amaurosis 5 (human) ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chr 9:83,391,355...83,442,994
Ensembl chr 9:83,390,293...83,441,127
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr15:91,672,791...91,816,124
Ensembl chr15:91,673,175...91,816,120
JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: VISION LOSS ClinVar NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
G mt-Nd6 NADH dehydrogenase 6, mitochondrial ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr MT:13,552...14,070
Ensembl chr MT:13,552...14,070
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: VISION LOSS ClinVar PMID:21520333, PMID:28492532, PMID:30311386 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612
JBrowse link
G Rpe65 retinal pigment epithelium 65 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724, PMID:16226919 NCBI chr 3:159,599,075...159,625,307
Ensembl chr 3:159,599,175...159,625,321
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr 6:21,771,391...21,879,596
Ensembl chr 6:21,771,395...21,852,515
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Legal blindness ClinVar PMID:15015129, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:18273898, PMID:20513143, PMID:21569298, PMID:24033266, PMID:24498627, PMID:24944099, PMID:25575603, PMID:25741868, PMID:26927203, PMID:27460420, PMID:28492532, PMID:30311386 NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
JBrowse link
G Vegfa vascular endothelial growth factor A IMP RGD PMID:23093773 RGD:11075234 NCBI chr17:46,016,993...46,032,377
Ensembl chr17:46,016,993...46,032,369
JBrowse link
G Vsx2 visual system homeobox 2 susceptibility ISO microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P RGD PMID:10932181 RGD:734779 NCBI chr12:84,569,828...84,595,457
Ensembl chr12:84,569,762...84,595,457
JBrowse link
blue color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opn1sw opsin 1 (cone pigments), short-wave-sensitive (color blindness, tritan) ISO ClinVar Annotator: match by term: Tritanopia
ClinVar Annotator: match by OMIM:190900
OMIM
ClinVar
PMID:1386496, PMID:1531728, PMID:2937147, PMID:25605338, PMID:28492532 NCBI chr 6:29,376,671...29,380,513
Ensembl chr 6:29,376,671...29,388,468
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO
IEA
OMIM:303700
ClinVar Annotator: match by term: Blue cone monochromacy
ClinVar Annotator: match by OMIM:303700
OMIM
MouseDO
ClinVar
PMID:1881435, PMID:8666378, PMID:8792812, PMID:15094734 NCBI chr  X:74,127,466...74,150,756
Ensembl chr  X:74,127,464...74,150,760
JBrowse link
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emc1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
ClinVar Annotator: match by term: EMC1-Related Disorder
ClinVar Annotator: match by term: Cerebellar atrophy, visual impairment, and psychomotor retardation
ClinVar
OMIM
PMID:25741868, PMID:26942288, PMID:27657687, PMID:28492532 NCBI chr 4:139,352,587...139,378,735
Ensembl chr 4:139,352,587...139,378,730
JBrowse link
Cerebral Visual Impairment and Intellectual Disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4430402I18Rik RIKEN cDNA 4430402I18 gene ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr19:28,917,638...28,967,832
Ensembl chr19:28,893,042...28,967,800
JBrowse link
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 3:97,158,752...97,176,576
Ensembl chr 3:97,158,777...97,177,299
JBrowse link
G Ahdc1 AT hook, DNA binding motif, containing 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 4:133,011,265...133,078,110
Ensembl chr 4:133,011,260...133,078,110
JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr  X:145,446,424...145,505,966
Ensembl chr  X:145,446,425...145,505,181
JBrowse link
G Arhgef10l Rho guanine nucleotide exchange factor (GEF) 10-like ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 4:140,514,485...140,666,007
Ensembl chr 4:140,514,485...140,666,012
JBrowse link
G Atp6v1a ATPase, H+ transporting, lysosomal V1 subunit A ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr16:44,085,402...44,139,702
Ensembl chr16:44,085,402...44,139,705
JBrowse link
G Dcaf6 DDB1 and CUL4 associated factor 6 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 1:165,329,500...165,460,906
Ensembl chr 1:165,328,698...165,460,475
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515, PMID:27479843 NCBI chr11:70,017,203...70,045,535
Ensembl chr11:70,016,942...70,047,522
JBrowse link
G Gabrb2 gamma-aminobutyric acid (GABA) A receptor, subunit beta 2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr11:42,419,515...42,632,591
Ensembl chr11:42,419,757...42,629,028
JBrowse link
G Kctd19 potassium channel tetramerisation domain containing 19 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 8:105,382,801...105,413,502
Ensembl chr 8:105,382,807...105,413,502
JBrowse link
G Pgap1 post-GPI attachment to proteins 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:25804403, PMID:26350515 NCBI chr 1:54,473,000...54,557,684
Ensembl chr 1:54,472,994...54,557,684
JBrowse link
G Rere arginine glutamic acid dipeptide (RE) repeats ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515, PMID:27087320 NCBI chr 4:150,281,511...150,621,966
Ensembl chr 4:150,281,646...150,621,966
JBrowse link
G Slc1a1 solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr19:28,835,135...28,913,960
Ensembl chr19:28,835,049...28,913,960
JBrowse link
G Slc25a16 solute carrier family 25 (mitochondrial carrier, Graves disease autoantigen), member 16 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr10:62,920,632...62,946,494
Ensembl chr10:62,920,633...62,946,498
JBrowse link
G Sox5 SRY (sex determining region Y)-box 5 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 6:143,828,425...144,782,287
Ensembl chr 6:143,828,425...144,781,977
JBrowse link
G Ufsp2 UFM1-specific peptidase 2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 8:45,975,515...45,996,958
Ensembl chr 8:45,975,528...45,996,958
JBrowse link
G Uhmk1 U2AF homology motif (UHM) kinase 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 1:170,193,422...170,215,897
Ensembl chr 1:170,193,420...170,215,397
JBrowse link
G Zfp30 zinc finger protein 30 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 7:29,783,968...29,794,703
Ensembl chr 7:29,783,998...29,794,702
JBrowse link
color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr 1:170,704,457...170,868,585
Ensembl chr 1:170,704,674...170,867,771
JBrowse link
G Bdnf brain derived neurotrophic factor susceptibility ISO associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) RGD PMID:21640793 RGD:8655850 NCBI chr 2:109,674,700...109,727,043
Ensembl chr 2:109,674,700...109,727,007
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:160,784,308...160,994,681
Ensembl chr  X:160,771,923...160,994,704
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO ClinVar Annotator: match by term: Color vision defects
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Achromatopsia
ClinVar
CTD
PMID:9662398, PMID:11536077, PMID:14757870, PMID:17693388, PMID:23972307, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30418171, PMID:30682209, PMID:11536077 RGD:734792 NCBI chr 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 susceptibility ISO DNA:mutations
CTD Direct Evidence: marker/mechanism
CTD PMID:30418171, PMID:10958649 RGD:1600870 NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
G Gnat2 guanine nucleotide binding protein, alpha transducing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12077706, PMID:12077706 RGD:1599034 NCBI chr 3:108,086,788...108,101,432
Ensembl chr 3:108,092,789...108,101,432
JBrowse link
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chr 9:59,942,771...59,960,834
Ensembl chr 9:59,942,771...59,960,659
JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr 5:108,388,373...108,431,743
Ensembl chr 5:108,388,391...108,432,397
JBrowse link
G Pde6h phosphodiesterase 6H, cGMP-specific, cone, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr 6:136,952,218...136,963,485
Ensembl chr 6:136,923,832...136,968,865
JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chr10:128,913,588...128,920,037
Ensembl chr10:128,913,593...128,922,888
JBrowse link
G Rp2 retinitis pigmentosa 2 homolog ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10937588, PMID:20669900, PMID:23150612, PMID:24940031, PMID:28209709, PMID:28492532, PMID:30311386 NCBI chr  X:20,364,481...20,405,653
Ensembl chr  X:20,364,481...20,405,653
JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:160,765,819...160,799,663
Ensembl chr  X:160,768,013...160,799,663
JBrowse link
G Ttll5 tubulin tyrosine ligase-like family, member 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:28492532, PMID:30311386 NCBI chr12:85,824,693...86,053,760
Ensembl chr12:85,824,659...86,061,893
JBrowse link
congenital stationary night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:12515255, PMID:28041643 NCBI chr 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar PMID:28492532 NCBI chr19:4,135,423...4,144,080
Ensembl chr19:4,135,423...4,144,033
JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Congenital stationary night blindness
DNA:mutation:cds: c.2941C>T (rat)
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9662399, PMID:9662400, PMID:25307992, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:30825406, PMID:12111638, PMID:18246026 RGD:734671, RGD:13782370 NCBI chr  X:7,607,103...7,635,196
Ensembl chr  X:7,607,083...7,635,196
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:160,784,308...160,994,681
Ensembl chr  X:160,771,923...160,994,704
JBrowse link
G Dennd4a DENN/MADD domain containing 4A ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar NCBI chr 9:64,806,124...64,919,667
Ensembl chr 9:64,811,340...64,919,667
JBrowse link
G Gnat1 guanine nucleotide binding protein, alpha transducing 1 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr 9:107,674,437...107,679,634
Ensembl chr 9:107,674,474...107,679,712
JBrowse link
G Gnb3 guanine nucleotide binding protein (G protein), beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:124,834,240...124,840,275
Ensembl chr 6:124,834,240...124,840,275
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
ClinVar Annotator: match by term: Congenital stationary night blindness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22325361, PMID:22325362, PMID:24033266, PMID:28041643 NCBI chr11:97,332,109...97,352,356
Ensembl chr11:97,332,109...97,352,077
JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chr 8:13,405,081...13,421,951
Ensembl chr 8:13,405,081...13,421,951
JBrowse link
G Grm6 glutamate receptor, metabotropic 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
CTD
ClinVar
PMID:16249515, PMID:17405131, PMID:19666700, PMID:22008250, PMID:28041643, PMID:28492532, PMID:30718709 NCBI chr11:50,850,369...50,866,208
Ensembl chr11:50,850,685...50,866,208
JBrowse link
G Lrit3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 3:129,783,941...129,804,136
Ensembl chr 3:129,787,881...129,804,030
JBrowse link
G Nyx nyctalopin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness, X-linked
CTD
ClinVar
NCBI chr  X:13,461,090...13,492,820
Ensembl chr  X:13,466,110...13,489,313
JBrowse link
G Pde6a phosphodiesterase 6A, cGMP-specific, rod, alpha ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:7493036, PMID:30311386 NCBI chr18:61,220,474...61,289,750
Ensembl chr18:61,220,315...61,289,924
JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
PMID:8075643, PMID:30311386, PMID:30718709 NCBI chr 5:108,388,373...108,431,743
Ensembl chr 5:108,388,391...108,432,397
JBrowse link
G Rho rhodopsin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
PMID:8107847, PMID:8358437, PMID:28492532, PMID:30311386 NCBI chr 6:115,926,754...115,940,038
Ensembl chr 6:115,931,748...115,940,036
JBrowse link
G Rp1l1 retinitis pigmentosa 1 homolog like 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30311386 NCBI chr14:63,992,431...64,033,506
Ensembl chr14:63,992,506...64,035,025
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28041643 NCBI chr  X:10,158,216...10,216,795
Ensembl chr  X:10,073,621...10,216,920
JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:160,765,819...160,799,663
Ensembl chr  X:160,768,013...160,799,663
JBrowse link
G Sag S-antigen, retina and pineal gland (arrestin) ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chr 1:87,798,143...87,845,158
Ensembl chr 1:87,803,680...87,845,158
JBrowse link
G Slc24a1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28492532 NCBI chr 9:64,922,861...64,951,620
Ensembl chr 9:64,922,861...64,951,607
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO DNA:mutations:exon, intron:multiple (human)
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:deletion, missense mutations:cds:multiple (human)
ClinVar
CTD
PMID:19878917, PMID:19896113, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:19878917, PMID:19896113, PMID:19896109 RGD:7175555, RGD:7183085, RGD:7183084 NCBI chr 7:64,153,835...64,269,772
Ensembl chr 7:64,153,835...64,269,775
JBrowse link
G Trpv3 transient receptor potential cation channel, subfamily V, member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chr11:73,267,489...73,300,368
Ensembl chr11:73,267,388...73,300,363
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12525556, PMID:14970843, PMID:15025721, PMID:15325563, PMID:15326663, PMID:17296898, PMID:17405132, PMID:18641288, PMID:18665195, PMID:19881469, PMID:20145675, PMID:20301515, PMID:21174530, PMID:21234346, PMID:22495311, PMID:22581970, PMID:23352160, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24607488, PMID:24944099, PMID:25097241, PMID:25404053, PMID:25649381, PMID:25741868, PMID:26633545, PMID:26872967, PMID:28041643, PMID:28492532, PMID:29953849, PMID:30718709 NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
JBrowse link
congenital stationary night blindness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nyx nyctalopin ISO
IEA
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1A
OMIM:310500
ClinVar Annotator: match by OMIM:310500
OMIM
ClinVar
MouseDO
PMID:11062471, PMID:11062472, PMID:16670814, PMID:17392683, PMID:23406521, PMID:28492532 NCBI chr  X:13,461,090...13,492,820
Ensembl chr  X:13,466,110...13,489,313
JBrowse link
congenital stationary night blindness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN/MADD domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 9:64,806,124...64,919,667
Ensembl chr 9:64,811,340...64,919,667
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chr11:97,332,109...97,352,356
Ensembl chr11:97,332,109...97,352,077
JBrowse link
G Grm6 glutamate receptor, metabotropic 6 ISO
IEA
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1B
ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, COMPLETE, AUTOSOMAL RECESSIVE
OMIM:257270
ClinVar Annotator: match by OMIM:257270
OMIM
ClinVar
MouseDO
PMID:11874764, PMID:15781871, PMID:16249515, PMID:17405131, PMID:19666700, PMID:19862333, PMID:22008250, PMID:22735794, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30718709 NCBI chr11:50,850,369...50,866,208
Ensembl chr11:50,850,685...50,866,208
JBrowse link
G Slc24a1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chr 9:64,922,861...64,951,620
Ensembl chr 9:64,922,861...64,951,607
JBrowse link
congenital stationary night blindness 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN/MADD domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 9:64,806,124...64,919,667
Ensembl chr 9:64,811,340...64,919,667
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chr11:97,332,109...97,352,356
Ensembl chr11:97,332,109...97,352,077
JBrowse link
G Mir211 microRNA 211 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C ClinVar PMID:25741868 NCBI chr 7:64,205,806...64,205,911
Ensembl chr 7:64,205,806...64,205,911
JBrowse link
G Slc24a1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chr 9:64,922,861...64,951,620
Ensembl chr 9:64,922,861...64,951,607
JBrowse link
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C
ClinVar Annotator: match by OMIM:613216
OMIM
ClinVar
PMID:19436059, PMID:19878917, PMID:19896109, PMID:19896113, PMID:19966281, PMID:20300565, PMID:22277662, PMID:25307992, PMID:25741868, PMID:25999674, PMID:26493165, PMID:26872967, PMID:28492532, PMID:30718709 NCBI chr 7:64,153,835...64,269,772
Ensembl chr 7:64,153,835...64,269,775
JBrowse link
congenital stationary night blindness 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN/MADD domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 9:64,806,124...64,919,667
Ensembl chr 9:64,811,340...64,919,667
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chr11:97,332,109...97,352,356
Ensembl chr11:97,332,109...97,352,077
JBrowse link
G Slc24a1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 ISO
IEA
ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
OMIM:613830
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1D
ClinVar Annotator: match by OMIM:613830
OMIM
ClinVar
MouseDO
PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chr 9:64,922,861...64,951,620
Ensembl chr 9:64,922,861...64,951,607
JBrowse link
congenital stationary night blindness 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dennd4a DENN/MADD domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr 9:64,806,124...64,919,667
Ensembl chr 9:64,811,340...64,919,667
JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO
IEA
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1E
OMIM:614565
ClinVar Annotator: match by OMIM:614565
OMIM
ClinVar
MouseDO
PMID:22325361, PMID:22325362, PMID:24033266, PMID:25741868, PMID:28041643, PMID:30311386, PMID:30718709 NCBI chr11:97,332,109...97,352,356
Ensembl chr11:97,332,109...97,352,077
JBrowse link
G Slc24a1 solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chr 9:64,922,861...64,951,620
Ensembl chr 9:64,922,861...64,951,607
JBrowse link
congenital stationary night blindness 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrit3 leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 ISO
IEA
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1F
OMIM:615058
ClinVar Annotator: match by OMIM:615058
OMIM
ClinVar
MouseDO
PMID:22673519, PMID:23246293, PMID:28492532 NCBI chr 3:129,783,941...129,804,136
Ensembl chr 3:129,787,881...129,804,030
JBrowse link
congenital stationary night blindness 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 guanine nucleotide binding protein, alpha transducing 1 ISO ClinVar Annotator: match by term: Night blindness, congenital stationary, type 1g OMIM
ClinVar
PMID:22190596, PMID:25741868, PMID:26472407, PMID:28492532 NCBI chr 9:107,674,437...107,679,634
Ensembl chr 9:107,674,474...107,679,712
JBrowse link
congenital stationary night blindness 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca3 cell division cycle associated 3 ISO ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H ClinVar PMID:27063057 NCBI chr 6:124,829,530...124,833,701
Ensembl chr 6:124,829,547...124,833,701
JBrowse link
G Gnb3 guanine nucleotide binding protein (G protein), beta 3 ISO ClinVar Annotator: match by OMIM:617024 ClinVar
OMIM
PMID:27063057 NCBI chr 6:124,834,240...124,840,275
Ensembl chr 6:124,834,240...124,840,275
JBrowse link
Congenital Stationary Night Blindness 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I OMIM
ClinVar
PMID:10766140, PMID:16505055, PMID:17724218, PMID:20050595, PMID:23035049, PMID:25477517, PMID:25741868, PMID:26253563, PMID:26626312, PMID:28492532, PMID:29061346, PMID:29559409, PMID:30718709 NCBI chr11:69,218,117...69,237,279
Ensembl chr11:69,218,117...69,237,036
JBrowse link
congenital stationary night blindness 2A 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
IEA
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A
OMIM:300071
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A, severe
ClinVar Annotator: match by OMIM:300071
OMIM
ClinVar
MouseDO
PMID:9529339, PMID:9662399, PMID:9662400, PMID:12187427, PMID:12719097, PMID:15897456, PMID:24033266, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30576320, PMID:30718709 NCBI chr  X:7,607,103...7,635,196
Ensembl chr  X:7,607,083...7,635,196
JBrowse link
Congenital Stationary Night Blindness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 2B
ClinVar Annotator: match by OMIM:610427
OMIM
ClinVar
PMID:16960802, PMID:19074807, PMID:20157620, PMID:23099293, PMID:23714322, PMID:25258313, PMID:25741868, PMID:26234941, PMID:28041643, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chr19:4,135,423...4,144,080
Ensembl chr19:4,135,423...4,144,033
JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 2B ClinVar NCBI chr19:4,139,799...4,145,741
Ensembl chr19:4,139,787...4,145,740
JBrowse link
congenital stationary night blindness autosomal dominant 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rho rhodopsin ISO
IEA
ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 1
OMIM:610445
ClinVar Annotator: match by OMIM:610445
OMIM
ClinVar
MouseDO
PMID:1418997, PMID:1987955, PMID:1987956, PMID:2137202, PMID:2239971, PMID:2509724, PMID:7981701, PMID:8088850, PMID:8107847, PMID:8317502, PMID:8358437, PMID:9050844, PMID:9380676, PMID:9618546, PMID:9888392, PMID:10521250, PMID:11139241, PMID:11879142, PMID:12091393, PMID:12860986, PMID:12871954, PMID:14769795, PMID:14971589, PMID:15509574, PMID:16123440, PMID:16767206, PMID:17488458, PMID:19913029, PMID:20591486, PMID:21094163, PMID:21217109, PMID:21219898, PMID:22164218, PMID:22323724, PMID:22995991, PMID:24760071, PMID:24853414, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28492532, PMID:28559085, PMID:29847639, PMID:30240733, PMID:30311386, PMID:30718709 NCBI chr 6:115,926,754...115,940,038
Ensembl chr 6:115,931,748...115,940,036
JBrowse link
congenital stationary night blindness autosomal dominant 2 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
IEA
ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 2
OMIM:163500
ClinVar Annotator: match by OMIM:163500
OMIM
ClinVar
MouseDO
PMID:7724547, PMID:8075643, PMID:17044014, PMID:22334370, PMID:24033266, PMID:24938718, PMID:25472526, PMID:25741868, PMID:25999674, PMID:26667666, PMID:27588261, PMID:28041643, PMID:28492532, PMID:28912962, PMID:28981474, PMID:30029497, PMID:30311386, PMID:30718709 NCBI chr 5:108,388,373...108,431,743
Ensembl chr 5:108,388,391...108,432,397
JBrowse link
congenital stationary night blindness autosomal dominant 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat1 guanine nucleotide binding protein, alpha transducing 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, autosomal dominant 3
ClinVar Annotator: match by OMIM:610444
OMIM
ClinVar
PMID:8673138, PMID:17584859, PMID:25741868, PMID:26472407, PMID:28492532 NCBI chr 9:107,674,437...107,679,634
Ensembl chr 9:107,674,474...107,679,712
JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)
ClinVar
CTD
OMIM
PMID:8841189, PMID:10878669, PMID:11405816, PMID:11601506, PMID:11803487, PMID:15037720, PMID:15710860, PMID:16411215, PMID:17851739, PMID:17936919, PMID:24033266, PMID:15710860, PMID:17471106, PMID:11601506 RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:134,537,256...134,541,670
Ensembl chr  X:134,537,256...134,541,865
JBrowse link
Diplopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Double vision ClinVar PMID:9673985, PMID:20096397, PMID:21186264, PMID:21739273, PMID:21820307, PMID:22194990, PMID:22336395, PMID:22402862, PMID:22499103, PMID:22742934, PMID:22980763, PMID:23041008, PMID:23606453, PMID:23607914, PMID:24022920, PMID:24232312, PMID:24843231, PMID:25741868, PMID:25891276, PMID:26467025, PMID:27708273, PMID:28492532, PMID:30311386 NCBI chr 7:51,510,007...51,598,707
Ensembl chr 7:51,511,029...51,598,709
JBrowse link
Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmd dystrophin, muscular dystrophy ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave ClinVar PMID:8817332 NCBI chr  X:82,814,664...85,205,050
Ensembl chr  X:82,948,870...85,206,141
JBrowse link
enhanced S-cone syndrome 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
IEA
ClinVar Annotator: match by term: Enhanced s-cone syndrome
ClinVar Annotator: match by term: NR2E3-Related Disorders
OMIM:268100
ClinVar Annotator: match by OMIM:268100
OMIM
ClinVar
MouseDO
PMID:10655056, PMID:11071390, PMID:11773633, PMID:12963616, PMID:15453866, PMID:15459973, PMID:15689355, PMID:16024868, PMID:17438525, PMID:17564971, PMID:17601449, PMID:18294254, PMID:18436841, PMID:18835469, PMID:19006237, PMID:19139342, PMID:19273793, PMID:19718767, PMID:19823680, PMID:19898638, PMID:19933183, PMID:21217109, PMID:21364904, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24033266, PMID:24069298, PMID:24265693, PMID:24339724, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:25999674, PMID:26229699, PMID:26355662, PMID:26667666, PMID:26894784, PMID:27013732, PMID:27032803, PMID:27874104, PMID:28041643, PMID:28300834, PMID:28418496, PMID:28492532, PMID:28559085, PMID:28944237, PMID:30311386, PMID:30324420, PMID:30718709 NCBI chr 9:59,942,771...59,960,834
Ensembl chr 9:59,942,771...59,960,659
JBrowse link
G Nrl neural retina leucine zipper gene ISO
IEA
ClinVar Annotator: match by term: Enhanced s-cone syndrome
OMIM:268100
ClinVar
MouseDO
PMID:27732723 NCBI chr14:55,518,978...55,524,981
Ensembl chr14:55,518,978...55,524,981
JBrowse link
G Prph2 peripherin 2 IDA RGD PMID:23650562 RGD:8554862 NCBI chr17:46,910,478...46,924,933
Ensembl chr17:46,910,459...46,924,933
JBrowse link
hereditary night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Congenital night blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:160,784,308...160,994,681
Ensembl chr  X:160,771,923...160,994,704
JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oguchi's disease
CTD
ClinVar
PMID:25741868 NCBI chr 8:13,405,081...13,421,951
Ensembl chr 8:13,405,081...13,421,951
JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) ISO ClinVar Annotator: match by term: Congenital night blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:160,765,819...160,799,663
Ensembl chr  X:160,768,013...160,799,663
JBrowse link
G Sag S-antigen, retina and pineal gland (arrestin) ISO DNA:deletion:cds:p.N309fsX321 (human)
ClinVar Annotator: match by term: Oguchi's disease
ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1
ClinVar Annotator: match by OMIM:258100
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:7670478, PMID:9452120, PMID:9501883, PMID:9565049, PMID:15234147, PMID:15295660, PMID:17200654, PMID:18175313, PMID:20981092, PMID:21447990, PMID:21922265, PMID:21987685, PMID:22419846, PMID:22665972, PMID:22995991, PMID:24265693, PMID:25268133, PMID:25741868, PMID:28492532, PMID:30311386, PMID:7670478 RGD:734491 NCBI chr 1:87,798,143...87,845,158
Ensembl chr 1:87,803,680...87,845,158
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Congenital night blindness ClinVar PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12525556, PMID:14970843, PMID:15025721, PMID:15325563, PMID:15326663, PMID:17296898, PMID:17405132, PMID:18641288, PMID:18665195, PMID:19881469, PMID:20145675, PMID:20301515, PMID:21174530, PMID:21234346, PMID:22495311, PMID:22581970, PMID:23352160, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24607488, PMID:24944099, PMID:25097241, PMID:25404053, PMID:25649381, PMID:25741868, PMID:26633545, PMID:26872967, PMID:28041643, PMID:28492532, PMID:29953849, PMID:30718709 NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
JBrowse link
ichthyosis follicularis-alopecia-photophobia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome ClinVar PMID:25741868 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Mbtps2 membrane-bound transcription factor peptidase, site 2 ISO ClinVar Annotator: match by term: IFAP syndrome with or without BRESHECK syndrome
ClinVar Annotator: match by OMIM:308205
OMIM
ClinVar
PMID:10694306, PMID:19361614, PMID:21426410, PMID:22105905, PMID:24313295, PMID:25741868 NCBI chr  X:157,547,822...157,598,715
Ensembl chr  X:157,535,371...157,598,715
JBrowse link
night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:25741868, PMID:28118664, PMID:28446513, PMID:29971439, PMID:30311386 NCBI chr 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123
JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:30311386 NCBI chr  X:7,607,103...7,635,196
Ensembl chr  X:7,607,083...7,635,196
JBrowse link
G Cdkl5 cyclin-dependent kinase-like 5 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:160,784,308...160,994,681
Ensembl chr  X:160,771,923...160,994,704
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:20683928, PMID:25741868, PMID:28492532 NCBI chr10:100,487,548...100,575,671
Ensembl chr10:100,487,558...100,574,840
JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:30311386 NCBI chr19:15,955,768...15,985,700
Ensembl chr19:15,955,773...15,984,989
JBrowse link
G Chm choroidermia (RAB escort protein 1) ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:25741868 NCBI chr  X:113,040,592...113,185,539
Ensembl chr  X:113,040,593...113,185,517
JBrowse link
G Ctnna1 catenin (cadherin associated protein), alpha 1 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:28041643, PMID:28492532, PMID:30311386 NCBI chr18:35,118,902...35,254,776
Ensembl chr18:35,118,859...35,254,779
JBrowse link
G Gnat1 guanine nucleotide binding protein, alpha transducing 1 ISO RGD PMID:8673138 RGD:1599006 NCBI chr 9:107,674,437...107,679,634
Ensembl chr 9:107,674,474...107,679,712
JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO DNA:deletions, missense mutation, frameshift mutation RGD PMID:9020843 RGD:1600000 NCBI chr 8:13,405,081...13,421,951
Ensembl chr 8:13,405,081...13,421,951
JBrowse link
G Gucy2e guanylate cyclase 2e ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:30311386 NCBI chr11:69,218,117...69,237,279
Ensembl chr11:69,218,117...69,237,036
JBrowse link
G Nrl neural retina leucine zipper gene ISO CTD Direct Evidence: marker/mechanism CTD PMID:12796249, PMID:15591106 NCBI chr14:55,518,978...55,524,981
Ensembl chr14:55,518,978...55,524,981
JBrowse link
G Nyx nyctalopin susceptibility ISO Congenital stationary night blindness type1A, OMIM:310500;DNA:mutations RGD PMID:11062471 RGD:1601021 NCBI chr  X:13,461,090...13,492,820
Ensembl chr  X:13,466,110...13,489,313
JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:11487575, PMID:22981120, PMID:30311386 NCBI chr10:73,096,277...74,649,831
Ensembl chr10:73,099,342...74,649,737
JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr 5:108,388,373...108,431,743
Ensembl chr 5:108,388,391...108,432,397
JBrowse link
G Pde6h phosphodiesterase 6H, cGMP-specific, cone, gamma ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:22901948, PMID:27472364, PMID:30311386 NCBI chr 6:136,952,218...136,963,485
Ensembl chr 6:136,923,832...136,968,865
JBrowse link
G Polr2f polymerase (RNA) II (DNA directed) polypeptide F ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:30311386 NCBI chr15:79,141,325...79,151,774
Ensembl chr15:79,141,009...79,151,774
JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO fundus albipunctatus (congenital night-blindness disorder), OMIM:601617
ClinVar Annotator: match by term: Night-blindness
ClinVar PMID:30311386, PMID:30718709, PMID:10617778 RGD:1599416 NCBI chr10:128,913,588...128,920,037
Ensembl chr10:128,913,593...128,922,888
JBrowse link
G Rho rhodopsin ISO CSNBAD1,OMIM:610445;DNA:point mutation:exon:A292E
ClinVar Annotator: match by term: Night-blindness
ClinVar PMID:1862076, PMID:2215617, PMID:20555336, PMID:25221422, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:8358437 RGD:1601620 NCBI chr 6:115,926,754...115,940,038
Ensembl chr 6:115,931,748...115,940,036
JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO Fundus albipunctatus, OMIM:180090 RGD PMID:11453974 RGD:1599620 NCBI chr 7:79,374,865...79,392,250
Ensembl chr 7:79,374,870...79,387,048
JBrowse link
G Rp2 retinitis pigmentosa 2 homolog ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:10937588, PMID:20669900, PMID:23150612, PMID:24940031, PMID:28209709, PMID:28492532, PMID:30311386 NCBI chr  X:20,364,481...20,405,653
Ensembl chr  X:20,364,481...20,405,653
JBrowse link
G Rpe65 retinal pigment epithelium 65 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:9326941, PMID:9501220, PMID:18632300, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:159,599,075...159,625,307
Ensembl chr 3:159,599,175...159,625,321
JBrowse link
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:160,765,819...160,799,663
Ensembl chr  X:160,768,013...160,799,663
JBrowse link
G Sox10 SRY (sex determining region Y)-box 10 ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:30311386 NCBI chr15:79,154,913...79,164,490
Ensembl chr15:79,154,908...79,165,240
JBrowse link
G Ttc8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:16308660, PMID:21044901, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:98,920,537...98,983,250
Ensembl chr12:98,920,574...98,983,238
JBrowse link
G Ttll5 tubulin tyrosine ligase-like family, member 5 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:28492532, PMID:30311386 NCBI chr12:85,824,693...86,053,760
Ensembl chr12:85,824,659...86,061,893
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Nyctalopia
ClinVar Annotator: match by term: Night-blindness
ClinVar PMID:10729113, PMID:10775529, PMID:11311042, PMID:12525556, PMID:15015129, PMID:15325563, PMID:16963483, PMID:17296898, PMID:18273898, PMID:18463160, PMID:18641288, PMID:18665195, PMID:19683999, PMID:19881469, PMID:20145675, PMID:21174530, PMID:21234346, PMID:21569298, PMID:22135276, PMID:22495311, PMID:23352160, PMID:24033266, PMID:24160897, PMID:24944099, PMID:25262649, PMID:25333064, PMID:25575603, PMID:25649381, PMID:25741868, PMID:26927203, PMID:27460420, PMID:28041643, PMID:28492532, PMID:29293505, PMID:30311386, PMID:30718709 NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
JBrowse link
Norrie disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 IEA
ISO
OMIM:310600
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
MouseDO
ClinVar
PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chr 7:89,404,366...89,410,110
Ensembl chr 7:89,404,355...89,413,134
JBrowse link
G Ndp Norrie disease (pseudoglioma) (human) ISO
IEA
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
ClinVar Annotator: match by term: Norrie Disease
OMIM:310600
ClinVar Annotator: match by OMIM:310600
OMIM
ClinVar
MouseDO
PMID:1303264, PMID:1307245, PMID:7814011, PMID:8069314, PMID:8240113, PMID:8268931, PMID:8790105, PMID:8990009, PMID:9143918, PMID:9382152, PMID:10484772, PMID:15776010, PMID:17334993, PMID:22563645, PMID:30311386 NCBI chr  X:16,885,521...16,911,774
Ensembl chr  X:16,885,521...16,911,774
JBrowse link
G Prss23 protease, serine 23 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chr 7:89,507,783...89,527,187
Ensembl chr 7:89,507,783...89,527,187
JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr 6:21,771,391...21,879,596
Ensembl chr 6:21,771,395...21,852,515
JBrowse link
Oguchi disease-1 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: NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1 OMIM
ClinVar
PMID:7670478, PMID:9565049, PMID:15234147, PMID:15295660, PMID:17200654, PMID:21447990, PMID:21922265, PMID:21987685, PMID:25268133, PMID:25741868 NCBI chr 1:87,798,143...87,845,158
Ensembl chr 1:87,803,680...87,845,158
JBrowse link
Oguchi disease-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grk1 G protein-coupled receptor kinase 1 ISO
IEA
ClinVar Annotator: match by term: Oguchi disease 2
OMIM:613411
ClinVar
OMIM
MouseDO
PMID:9020843, PMID:9419375, PMID:16319817, PMID:17070587, PMID:17765441, PMID:19753316, PMID:22959359, PMID:26349155, PMID:27511724, PMID:28418496, PMID:28511019, PMID:30718709 NCBI chr 8:13,405,081...13,421,951
Ensembl chr 8:13,405,081...13,421,951
JBrowse link
Photophobia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123
JBrowse link
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr 1:170,704,457...170,868,585
Ensembl chr 1:170,704,674...170,867,771
JBrowse link
G Cdh23 cadherin 23 (otocadherin) ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:21436283, PMID:23804846, PMID:24033266, PMID:24875298, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
JBrowse link
G Cdhr1 cadherin-related family member 1 ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:23591405, PMID:24033266, PMID:25741868, PMID:26766544, PMID:27353947, PMID:28041643, PMID:28224992, PMID:28492532, PMID:28765526, PMID:28885867, PMID:30311386, PMID:30718709 NCBI chr14:37,077,849...37,098,347
Ensembl chr14:37,077,857...37,098,347
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:9662398, PMID:11536077, PMID:17693388, PMID:20238023, PMID:24504161, PMID:25637600, PMID:25741868, PMID:26992781, PMID:28492532, PMID:30311386 NCBI chr 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709 NCBI chr 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:30311386 NCBI chr16:56,203,839...56,273,753
Ensembl chr16:56,204,313...56,273,756
JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr 5:108,388,373...108,431,743
Ensembl chr 5:108,388,391...108,432,397
JBrowse link
G Rgr retinal G protein coupled receptor ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:10581022, PMID:25741868, PMID:27623334, PMID:28492532, PMID:30311386, PMID:30337596 NCBI chr14:37,034,909...37,049,014
Ensembl chr14:37,034,909...37,048,964
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:22135276, PMID:24033266, PMID:30311386 NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
JBrowse link
red color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) ISO ClinVar Annotator: match by term: Protan defect OMIM
ClinVar
PMID:12051694 NCBI chr  X:74,127,466...74,150,756
Ensembl chr  X:74,127,464...74,150,760
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 23 (otocadherin) ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507, PMID:16963483, PMID:18429043, PMID:19683999, PMID:21174530, PMID:21228398, PMID:21569298, PMID:22135276, PMID:22995991, PMID:24033266, PMID:25474345, PMID:25741868, PMID:26969326, PMID:27018795, PMID:28492532, PMID:30029624, PMID:30718709 NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
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 chr10:60,399,493...60,403,559
Ensembl chr10:60,399,726...60,403,559
JBrowse link
G Hars histidyl-tRNA synthetase ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr18:36,766,528...36,783,205
Ensembl chr18:36,766,528...36,783,205
JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: Rp21 ClinVar PMID:9792552, PMID:10090882 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 NCBI chr 7:98,051,054...98,119,522
Ensembl chr 7:98,051,060...98,119,524
JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:73,096,277...74,649,831
Ensembl chr10:73,099,342...74,649,737
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:60,277,628...60,302,600
Ensembl chr10:60,277,627...60,302,597
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 7:46,195,350...46,238,490
Ensembl chr 7:46,195,350...46,238,503
JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr11:115,315,192...115,333,736
Ensembl chr11:115,315,192...115,322,041
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:60,346,851...60,430,294
Ensembl chr10:60,346,851...60,372,684
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30245029 NCBI chr 4:63,414,908...63,496,083
Ensembl chr 4:63,414,910...63,495,991
JBrowse link
scotoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:9054934, PMID:9466990, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10711710, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11379881, PMID:11527935, PMID:12192456, PMID:12796258, PMID:15579991, PMID:16103129, PMID:16303926, PMID:18854780, PMID:19074458, PMID:19217903, PMID:22229821, PMID:22312191, PMID:23143460, PMID:23755871, PMID:23769331, PMID:23918662, PMID:24033266, PMID:24265693, PMID:24509150, PMID:24713488, PMID:25087612, PMID:25283059, PMID:25712131, PMID:25741868, PMID:25922843, PMID:26229699, PMID:26593885, PMID:27367509, PMID:27820952, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29114839, PMID:29186038, PMID:29847635, PMID:30311386, PMID:30718709 NCBI chr 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123
JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 (human) ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:15137946, PMID:21209035, PMID:28492532, PMID:30311386 NCBI chr 2:69,646,848...69,667,571
Ensembl chr 2:69,647,171...69,667,571
JBrowse link
G Cacna2d4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chr 6:119,236,524...119,352,407
Ensembl chr 6:119,236,526...119,352,407
JBrowse link
G Cdh23 cadherin 23 (otocadherin) ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
JBrowse link
G Cerkl ceramide kinase-like ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:14681825, PMID:21151602, PMID:22164218, PMID:24043777, PMID:24625443, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:221642182 NCBI chr 2:79,332,491...79,428,988
Ensembl chr 2:79,330,543...79,456,785
JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chr17:25,016,083...25,099,499
Ensembl chr17:25,016,085...25,099,495
JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chr 4:147,873,586...147,904,909
Ensembl chr 4:147,873,599...147,904,704
JBrowse link
G Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:108,388,373...108,431,743
Ensembl chr 5:108,388,391...108,432,397
JBrowse link
G Rp2 retinitis pigmentosa 2 homolog ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:10937588, PMID:20669900, PMID:23150612, PMID:24940031, PMID:28209709, PMID:28492532, PMID:30311386 NCBI chr  X:20,364,481...20,405,653
Ensembl chr  X:20,364,481...20,405,653
JBrowse link
G Topors topoisomerase I binding, arginine/serine-rich ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chr 4:40,259,606...40,269,841
Ensembl chr 4:40,259,601...40,269,850
JBrowse link
Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome
ClinVar Annotator: match by term: SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME
OMIM
ClinVar
PMID:24781755, PMID:25558065, PMID:25741868, PMID:26463574 NCBI chr18:37,843,601...37,935,622
Ensembl chr18:37,843,601...37,935,476
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: Usher syndrome ClinVar PMID:14740321, PMID:15671307, PMID:24033266, PMID:24154662, PMID:25133751, PMID:25404053, PMID:25741868, PMID:26164827, PMID:26467025, PMID:27068579, PMID:27575413, PMID:28041643, PMID:28492532, PMID:29099798 NCBI chr13:81,095,068...81,633,391
Ensembl chr13:81,095,068...81,633,154
JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr11:109,473,333...109,573,330
Ensembl chr11:109,473,374...109,573,330
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 (human) ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255, PMID:12524598, PMID:12677556, PMID:12837689, PMID:15314642, PMID:17980398, PMID:18032602, PMID:18669544, PMID:18766993, PMID:20498079, PMID:21052717, PMID:21642631, PMID:22581970, PMID:22940089, PMID:23143442, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26872967, PMID:27032803, PMID:27659767, PMID:28041643, PMID:28492532, PMID:29264490, PMID:30614526, PMID:30718709 NCBI chr19:4,886,878...4,906,653
Ensembl chr19:4,886,878...4,906,628
JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,329,428...185,357,777
Ensembl chr 1:185,332,149...185,357,777
JBrowse link
G C130074G19Rik RIKEN cDNA C130074G19 gene ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,871,926...184,883,036
Ensembl chr 1:184,871,926...184,883,218
JBrowse link
G Cdh23 cadherin 23 (otocadherin) ISO ClinVar Annotator: match by term: Hallgren syndrome
ClinVar Annotator: match by term: Usher syndrome
ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:16963483, PMID:17850630, PMID:18273900, PMID:18429043, PMID:19683999, PMID:21174530, PMID:21228398, PMID:21569298, PMID:22135276, PMID:22899989, PMID:22995991, PMID:24033266, PMID:25333064, PMID:25356970, PMID:25474345, PMID:25587757, PMID:25741868, PMID:26467025, PMID:26681316, PMID:26969326, PMID:27018795, PMID:28492532, PMID:28501645, PMID:30029624, PMID:30718709, PMID:20212494 RGD:8547536 NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881, PMID:25741868 NCBI chr 2:155,956,285...155,998,900
Ensembl chr 2:155,956,458...155,998,900
JBrowse link
G Clrn1 clarin 1 ISO RGD PMID:23701314 RGD:8547535 NCBI chr 3:58,844,028...58,885,212
Ensembl chr 3:58,844,028...58,885,340
JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,034,381...184,075,636
Ensembl chr 1:184,013,302...184,075,636
JBrowse link
G Eprs glutamyl-prolyl-tRNA synthetase ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,361,417...185,428,360
Ensembl chr 1:185,363,044...185,428,360
JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:187,608,510...188,214,885
Ensembl chr 1:187,608,791...188,214,885
JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12075507, PMID:15537665, PMID:18273900, PMID:21228398, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:60,399,493...60,403,559
Ensembl chr10:60,399,726...60,403,559
JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:187,214,606...187,371,645
Ensembl chr 1:187,215,508...187,351,704
JBrowse link
G Hars histidyl-tRNA synthetase ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr18:36,766,528...36,783,205
Ensembl chr18:36,766,528...36,783,205
JBrowse link
G Hhipl2 hedgehog interacting protein-like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:183,414,463...183,437,053
Ensembl chr 1:183,418,215...183,436,808
JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,727,143...184,732,493
Ensembl chr 1:184,727,140...184,732,619
JBrowse link
G Iars2 isoleucine-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,286,642...185,329,419
Ensembl chr 1:185,284,726...185,329,396
JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,087,732...186,117,310
Ensembl chr 1:186,087,731...186,117,310
JBrowse link
G Mark1 MAP/microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,896,424...184,999,954
Ensembl chr 1:184,896,789...184,999,570
JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,313,319...185,313,385
Ensembl chr 1:185,313,319...185,313,385
JBrowse link
G Mir215 microRNA 215 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,313,581...185,313,692
Ensembl chr 1:185,313,581...185,313,692
JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,786,767...184,811,743
Ensembl chr 1:184,786,767...184,811,313
JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,813,066...184,846,451
Ensembl chr 1:184,813,068...184,846,451
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Hallgren syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3130723, PMID:7568224, PMID:7870171, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10425080, PMID:10447383, PMID:10930322, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15221449, PMID:15660226, PMID:15823922, PMID:15965244, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22690115, PMID:22898263, PMID:23208854, PMID:23237960, PMID:23451239, PMID:23591405, PMID:23770805, PMID:24033266, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24831256, PMID:24875298, PMID:25080338, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25472526, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26309859, PMID:26338283, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27208204, PMID:27344577, PMID:27460420, PMID:27583663, PMID:27610647, PMID:27743452, PMID:27957503, PMID:28000701, PMID:28041643, PMID:28439001, PMID:28472130, PMID:28492532, PMID:28944237, PMID:29142287, PMID:29196752, PMID:29490346, PMID:30245029, PMID:30303587, PMID:30311386, PMID:30459346, PMID:30718709, PMID:31479088, PMID:20212494 RGD:8547536 NCBI chr 7:98,051,054...98,119,522
Ensembl chr 7:98,051,060...98,119,524
JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:19309154, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28041643, PMID:28281779, PMID:28492532, PMID:20212494 RGD:8547536 NCBI chr10:73,096,277...74,649,831
Ensembl chr10:73,099,342...74,649,737
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 5:43,993,621...44,102,047
Ensembl chr 5:43,993,620...44,102,032
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:18429043, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:60,277,628...60,302,600
Ensembl chr10:60,277,627...60,302,597
JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,204,088...185,286,756
Ensembl chr 1:185,204,117...185,286,759
JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,721,086...186,749,358
Ensembl chr 1:186,720,978...186,749,358
JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,454,848...185,468,762
Ensembl chr 1:185,454,848...185,468,762
JBrowse link
G Snora36b small nucleolar RNA, H/ACA box 36B ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,242,926...185,243,038
Ensembl chr 1:185,242,907...185,243,038
JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:187,009,614...187,215,511
Ensembl chr 1:187,044,648...187,215,465
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 1:183,388,885...183,410,201
Ensembl chr 1:183,388,981...183,410,198
JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,622,787...186,709,697
Ensembl chr 1:186,622,792...186,705,989
JBrowse link
G Ush1c USH1 protein network component harmonin treatment ISO
IMP
ClinVar Annotator: match by term: Usher syndrome
DNA:mutations:cds:
ClinVar PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:21436283, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30718709, PMID:20212494, PMID:23380860, PMID:20095043, PMID:14519688, PMID:11139240 RGD:8547536, RGD:8695937, RGD:8695939, RGD:8694458, RGD:8694457 NCBI chr 7:46,195,350...46,238,490
Ensembl chr 7:46,195,350...46,238,503
JBrowse link
G Ush1g USH1 protein network component sans ISO RGD PMID:20212494 RGD:8547536 NCBI chr11:115,315,192...115,333,736
Ensembl chr11:115,315,192...115,322,041
JBrowse link
G Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome
DNA:snps, insertion:exon, intron:multiple (human)
ClinVar PMID:1968399, PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12427073, PMID:12525556, PMID:14970843, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:15326663, PMID:15823922, PMID:16098008, PMID:16114888, PMID:16963483, PMID:17085681, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18463160, PMID:18641288, PMID:18665195, PMID:19023448, PMID:19129697, PMID:19683999, PMID:19737284, PMID:19881469, PMID:20052763, PMID:20145675, PMID:20301515, PMID:20507924, PMID:20591486, PMID:20596040, PMID:21151602, PMID:21174530, PMID:21234346, PMID:21569298, PMID:21686329, PMID:21738395, PMID:22004887, PMID:22009552, PMID:22135276, PMID:22334370, PMID:22495311, PMID:22581970, PMID:22681893, PMID:22952768, PMID:23352160, PMID:23591405, PMID:23737954, PMID:23804846, PMID:23924366, PMID:23940504, PMID:23991284, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24265693, PMID:24498627, PMID:24516651, PMID:24607488, PMID:24625443, PMID:24853665, PMID:24944099, PMID:25078356, PMID:25097241, PMID:25133613, PMID:25133751, PMID:25261458, PMID:25262649, PMID:25324289, PMID:25326637, PMID:25333064, PMID:25356976, PMID:25375654, PMID:25404053, PMID:25412400, PMID:25425308, PMID:25472526, PMID:25521520, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868, PMID:25823529, PMID:25910913, PMID:25991456, PMID:25999674, PMID:26310143, PMID:26338283, PMID:26633545, PMID:26667666, PMID:26764160, PMID:26766544, PMID:26806561, PMID:26872967, PMID:26927203, PMID:26969326, PMID:27157150, PMID:27160483, PMID:27208204, PMID:27318125, PMID:27460420, PMID:27596865, PMID:27624628, PMID:27957503, PMID:28041643, PMID:28130426, PMID:28157192, PMID:28492532, PMID:28512305, PMID:28559085, PMID:28653555, PMID:28894305, PMID:28944237, PMID:28981474, PMID:29074561, PMID:29142287, PMID:29196752, PMID:29293505, PMID:29343940, PMID:29490346, PMID:29625443, PMID:29767709, PMID:29912909, PMID:29953849, PMID:30190494, PMID:30245029, PMID:30311386, PMID:30337596, PMID:30543658, PMID:30718709, PMID:31877679, PMID:23701314, PMID:18452394 RGD:8547535, RGD:8547956 NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
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, PMID:17980398, PMID:18032602, PMID:18669544, PMID:18766993, PMID:20498079, PMID:21052717, PMID:21642631, PMID:22581970, PMID:22940089, PMID:23143442, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26872967, PMID:27032803, PMID:27659767, PMID:28041643, PMID:28492532, PMID:29264490, PMID:30614526, PMID:30718709 NCBI chr19:4,878,668...4,885,397
Ensembl chr19:4,878,668...4,885,397
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 chr13:81,095,068...81,633,391
Ensembl chr13:81,095,068...81,633,154
JBrowse link
G Cdh23 cadherin 23 (otocadherin) ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:16679490, PMID:16963483, PMID:18273900, PMID:19683999, PMID:20613545, PMID:21228398, PMID:21569298, PMID:21738395, PMID:24033266, PMID:25468891, PMID:25741868, PMID:25788563, PMID:26467025, PMID:28492532 NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
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:23023331 NCBI chr 9:54,544,794...54,560,190
Ensembl chr 9:54,544,794...54,560,218
JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:29572253 NCBI chr 4:152,120,331...152,152,414
Ensembl chr 4:152,120,331...152,152,371
JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12075507, PMID:15537665, PMID:18273900, PMID:21228398, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr10:60,399,493...60,403,559
Ensembl chr10:60,399,726...60,403,559
JBrowse link
G Myo7a myosin VIIA ISO
ISS
IEA
DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
OMIM:276900
ClinVar
MouseDO
PMID:3130723, PMID:7568224, PMID:7870171, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10364543, PMID:10425080, PMID:10447383, PMID:10930322, PMID:12080385, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15121790, PMID:15221449, PMID:15606003, PMID:15660226, PMID:15823922, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:17960123, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20613545, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22690115, PMID:22785243, PMID:22898263, PMID:23226338, PMID:23237960, PMID:23451214, PMID:23451239, PMID:23591405, PMID:23770805, PMID:23804846, PMID:23882135, PMID:24033266, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24498627, PMID:24618850, PMID:24831256, PMID:24875298, PMID:25080338, PMID:25262649, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27208204, PMID:27344577, PMID:27440999, PMID:27460420, PMID:27583663, PMID:27610647, PMID:27743452, PMID:27766948, PMID:27957503, PMID:28008688, PMID:28041643, PMID:28472130, PMID:28492532, PMID:28944237, PMID:29142287, PMID:29490346, PMID:30245029, PMID:30311386, PMID:30459346, PMID:30718709, PMID:31479088, PMID:15592175 RGD:8694152 NCBI chr 7:98,051,054...98,119,522
Ensembl chr 7:98,051,060...98,119,524
JBrowse link
G Otop2 otopetrin 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298 NCBI chr11:115,307,163...115,332,306
Ensembl chr11:115,307,163...115,332,303
JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:16679490, PMID:20672374, PMID:21569298, PMID:22135276, PMID:22183965, PMID:22815625, PMID:23967202, PMID:24033266, PMID:24105371, PMID:24498627, PMID:24618850, PMID:24831256, PMID:25262649, PMID:25307757, PMID:25468891, PMID:25525159, PMID:25741868, PMID:26467025, PMID:27058588, PMID:27208204, PMID:27460420, PMID:27766948, PMID:27861356, PMID:28492532, PMID:30718709 NCBI chr10:73,096,277...74,649,831
Ensembl chr10:73,099,342...74,649,737
JBrowse link
G Ush1c USH1 protein network component harmonin onset ISO
ISS
DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
OMIM:276900
DNA:mutation:cds: c.216G>A(human)
DNA:deletion:exon:c.1220delG(human)
ClinVar
MouseDO
PMID:9760205, PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:24498627, PMID:25356976, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30718709, PMID:21487335, PMID:17407589, PMID:23251578 RGD:8695918, RGD:8695921, RGD:8695919 NCBI chr 7:46,195,350...46,238,490
Ensembl chr 7:46,195,350...46,238,503
JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher Syndrome Type I
ClinVar PMID:11941484, PMID:12588794, PMID:21569298, PMID:25741868 NCBI chr11:115,315,192...115,333,736
Ensembl chr11:115,315,192...115,322,041
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:21569298, PMID:24033266, PMID:26667666, PMID:28041643, PMID:28492532 NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA treatment ISO
IMP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome, type 1B
ClinVar Annotator: match by null
DNA:nonsense mutation
DNA:mutations: :multiple
OMIM
ClinVar
PMID:3130723, PMID:7568224, PMID:7870171, PMID:7951250, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:9843659, PMID:10094549, PMID:10425080, PMID:10447383, PMID:10930322, PMID:11391666, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15221449, PMID:15660226, PMID:15823922, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22690115, PMID:22898263, PMID:23237960, PMID:23451239, PMID:23591405, PMID:23770805, PMID:24033266, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24875298, PMID:25080338, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27208204, PMID:27460420, PMID:27583663, PMID:27610647, PMID:27743452, PMID:27957503, PMID:28041643, PMID:28472130, PMID:28492532, PMID:28944237, PMID:29142287, PMID:29490346, PMID:30245029, PMID:30311386, PMID:30459346, PMID:30718709, PMID:15965244, PMID:23991031, PMID:23991031, PMID:12112664, PMID:8900236 RGD:1581470, RGD:8694151, RGD:8694151, RGD:8694137, RGD:8694135 NCBI chr 7:98,051,054...98,119,522
Ensembl chr 7:98,051,060...98,119,524
JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chr10:73,096,277...74,649,831
Ensembl chr10:73,099,342...74,649,737
JBrowse link
G Ush1c USH1 protein network component harmonin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD
ClinVar
PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:21436283, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30718709 NCBI chr 7:46,195,350...46,238,490
Ensembl chr 7:46,195,350...46,238,503
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
IEA
ClinVar Annotator: match by term: Usher syndrome, type 1C
OMIM:276904
ClinVar Annotator: match by OMIM:276904
CTD Direct Evidence: marker/mechanism
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)
OMIM
ClinVar
MouseDO
CTD
PMID:9760205, PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:20146813, PMID:20301442, PMID:20671281, PMID:21203349, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:22581970, PMID:23251578, PMID:23380860, PMID:23967202, PMID:24033266, PMID:24154662, PMID:24416283, PMID:24498627, PMID:24618850, PMID:25262649, PMID:25333064, PMID:25356976, PMID:25468891, PMID:25525159, PMID:25560255, PMID:25741868, PMID:25788563, PMID:26445815, PMID:26467025, PMID:26944241, PMID:26969326, PMID:27208204, PMID:27440999, PMID:27460420, PMID:27743452, PMID:27957503, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30245029, PMID:30718709, PMID:10973247 RGD:1600453 NCBI chr 7:46,195,350...46,238,490
Ensembl chr 7:46,195,350...46,238,503
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 23 (otocadherin) ISO
IEA
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
OMIM:601067
ClinVar Annotator: match by OMIM:601067
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:2289998, PMID:2706105, PMID:11090341, PMID:11138009, PMID:11857743, PMID:12075507, PMID:12522556, PMID:15353998, PMID:15537665, PMID:15660226, PMID:16679490, PMID:17407589, PMID:17850630, PMID:18273900, PMID:18323324, PMID:18348277, PMID:18429043, PMID:19375528, PMID:19683999, PMID:20146813, PMID:20513143, PMID:20613545, PMID:20844544, PMID:21228398, PMID:21436283, PMID:21569298, PMID:21940737, PMID:22135276, PMID:22443853, PMID:22607986, PMID:22899989, PMID:22995991, PMID:23451239, PMID:23591405, PMID:23757202, PMID:23804846, PMID:23967202, PMID:24033266, PMID:24416283, PMID:24498627, PMID:24618850, PMID:24767429, PMID:24875298, PMID:25262649, PMID:25279224, PMID:25333064, PMID:25356970, PMID:25404053, PMID:25468891, PMID:25472526, PMID:25474345, PMID:25587757, PMID:25741868, PMID:25788563, PMID:25963016, PMID:25991456, PMID:26264712, PMID:26467025, PMID:26633542, PMID:26763877, PMID:26969326, PMID:27068579, PMID:27460420, PMID:27583405, PMID:27743452, PMID:27792758, PMID:27884173, PMID:28492532, PMID:28912962, PMID:30029624, PMID:30123251, PMID:30245029, PMID:30311386, PMID:30718709, PMID:30774966, PMID:11138008 RGD:8662279 NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by null
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:11090341, PMID:11138009, PMID:12075507, PMID:15537665, PMID:15660226, PMID:17850630, PMID:18273900, PMID:18429043, PMID:20146813, PMID:21228398, PMID:21569298, PMID:21940737, PMID:22135276, PMID:22899989, PMID:24033266, PMID:24875298, PMID:25468891, PMID:25741868, PMID:25991456, PMID:26467025, PMID:28492532 NCBI chr10:60,399,493...60,403,559
Ensembl chr10:60,399,726...60,403,559
JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar Annotator: match by OMIM:601067
OMIM
ClinVar
PMID:12711741, PMID:14570705, PMID:15028842, PMID:16679490, PMID:18484607, PMID:18719945, PMID:19375528, PMID:21436283, PMID:21569298, PMID:22815625, PMID:24033266, PMID:24105371, PMID:24618850, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:26872967, PMID:27460420, PMID:28492532 NCBI chr10:73,096,277...74,649,831
Ensembl chr10:73,099,342...74,649,737
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr10:60,277,628...60,302,600
Ensembl chr10:60,277,627...60,302,597
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
IEA
ClinVar Annotator: match by term: Usher syndrome type 1F
ClinVar Annotator: match by term: Usher syndrome, type 1F
OMIM:602083
ClinVar Annotator: match by OMIM:602083
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:11398101, PMID:11487575, PMID:12711741, PMID:14570705, PMID:15028842, PMID:15537665, PMID:15660226, PMID:16679490, PMID:16963483, PMID:18484607, PMID:18719945, PMID:19375528, PMID:19683999, PMID:21436283, PMID:21569298, PMID:22135276, PMID:22815625, PMID:22952768, PMID:22981120, PMID:23451239, PMID:23462753, PMID:23591405, PMID:23767834, PMID:23967202, PMID:24033266, PMID:24105371, PMID:24498627, PMID:24618850, PMID:24705292, PMID:24831256, PMID:24853665, PMID:24940003, PMID:25262649, PMID:25307757, PMID:25404053, PMID:25425308, PMID:25525159, PMID:25575603, PMID:25741868, PMID:25999675, PMID:26166082, PMID:26346818, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27058588, PMID:27068579, PMID:27208204, PMID:27440999, PMID:27460420, PMID:27610647, PMID:27743452, PMID:27766948, PMID:28000701, PMID:28281779, PMID:28492532, PMID:28900111, PMID:28968992, PMID:30311386, PMID:30459346 NCBI chr10:73,096,277...74,649,831
Ensembl chr10:73,099,342...74,649,737
JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otop2 otopetrin 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar PMID:15660226, PMID:17896313, PMID:22135276, PMID:24033266, PMID:25741868, PMID:28224992, PMID:28492532 NCBI chr11:115,307,163...115,332,306
Ensembl chr11:115,307,163...115,332,303
JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar PMID:12711741, PMID:15028842, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chr10:73,096,277...74,649,831
Ensembl chr10:73,099,342...74,649,737
JBrowse link
G Ush1g USH1 protein network component sans ISO
IEA
ClinVar Annotator: match by term: Usher syndrome, type 1G
ClinVar Annotator: match by term: USH1G-Related Disorders
OMIM:606943
OMIM
ClinVar
MouseDO
PMID:11941484, PMID:12588794, PMID:15660226, PMID:17896313, PMID:21044053, PMID:22135276, PMID:23591405, PMID:24033266, PMID:25255398, PMID:25741868, PMID:26467025, PMID:26878454, PMID:27068579, PMID:27353947, PMID:28224992, PMID:28492532 NCBI chr11:115,315,192...115,333,736
Ensembl chr11:115,315,192...115,322,041
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:614869
OMIM
CTD
ClinVar
PMID:18505454, PMID:23023331 NCBI chr 9:54,544,794...54,560,190
Ensembl chr 9:54,544,794...54,560,218
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:29572253 NCBI chr 4:152,120,331...152,152,414
Ensembl chr 4:152,120,331...152,152,371
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:19357117, PMID:22135276, PMID:22147658, PMID:24033266, PMID:24123792, PMID:25741868, PMID:28492532 NCBI chr13:81,095,068...81,633,391
Ensembl chr13:81,095,068...81,633,154
JBrowse link
G Cdh23 cadherin 23 (otocadherin) ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 7:98,051,054...98,119,522
Ensembl chr 7:98,051,060...98,119,524
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 7:46,195,350...46,238,490
Ensembl chr 7:46,195,350...46,238,503
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 PMID:10729113, PMID:10738000, PMID:10775529, PMID:10909849, PMID:11311042, PMID:12525556, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18452394, PMID:18463160, PMID:18641288, PMID:18665195, PMID:19683999, PMID:19881469, PMID:20052763, PMID:20145675, PMID:20507924, PMID:20513143, PMID:21174530, PMID:21234346, PMID:21569298, PMID:21686329, PMID:22004887, PMID:22009552, PMID:22135276, PMID:22495311, PMID:23352160, PMID:23591405, PMID:23924366, PMID:24033266, PMID:24160897, PMID:24498627, PMID:24938718, PMID:24944099, PMID:25078356, PMID:25097241, PMID:25211151, PMID:25262649, PMID:25324289, PMID:25333064, PMID:25356976, PMID:25404053, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868, PMID:26310143, PMID:26338283, PMID:26927203, PMID:27032803, PMID:27160483, PMID:27318125, PMID:27344577, PMID:27460420, PMID:28041643, PMID:28130426, PMID:28492532, PMID:28653555, PMID:28894305, PMID:28944237, PMID:28981474, PMID:29142287, PMID:29293505, PMID:29490346, PMID:29625443, PMID:29899460, PMID:30245029, PMID:30311386, PMID:30718709, PMID:30948794, PMID:15025721, PMID:12112664, PMID:22009552, PMID:18665195, PMID:17405132 RGD:8547952, RGD:8694137, RGD:8547985, RGD:8547965, RGD:8547962 NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
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 chr13:81,095,068...81,633,391
Ensembl chr13:81,095,068...81,633,154
JBrowse link
G Cdh23 cadherin 23 (otocadherin) ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA ClinVar PMID:2706105, PMID:12075507, PMID:12522556, PMID:15353998, PMID:21940737, PMID:24033266, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
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 1:188,971,095...189,007,898
Ensembl chr 1:188,971,095...189,007,841
JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2A OMIM
ClinVar
PMID:20440071, PMID:25741868, PMID:28492532, PMID:29048736 NCBI chr19:45,026,907...45,058,633
Ensembl chr19:45,026,906...45,045,717
JBrowse link
G Ush2a usherin susceptibility ISO
IEA
ClinVar Annotator: match by term: Usher syndrome, type 2A
OMIM:276901
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:276901
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human)
OMIM
ClinVar
MouseDO
CTD
PMID:1968399, PMID:9624053, PMID:10090909, PMID:10729113, PMID:10738000, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12427073, PMID:12525556, PMID:12786748, PMID:14676276, PMID:14970843, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:15326663, PMID:15671307, PMID:15823922, PMID:16098008, PMID:16114888, PMID:16963483, PMID:17085681, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18281613, PMID:18452394, PMID:18463160, PMID:18484607, PMID:18641288, PMID:18665192, PMID:18665195, PMID:19023448, PMID:19129697, PMID:19683999, PMID:19737284, PMID:19788668, PMID:19881469, PMID:20052763, PMID:20145675, PMID:20301515, PMID:20309401, PMID:20440071, PMID:20497194, PMID:20507924, PMID:20513143, PMID:20591486, PMID:20596040, PMID:20613545, PMID:20801516, PMID:21147909, PMID:21151602, PMID:21174530, PMID:21228398, PMID:21234346, PMID:21569298, PMID:21593743, PMID:21681106, PMID:21686329, PMID:21738395, PMID:21909055, PMID:22004887, PMID:22009552, PMID:22135276, PMID:22334370, PMID:22495311, PMID:22563300, PMID:22581970, PMID:22681893, PMID:22952768, PMID:23352160, PMID:23591405, PMID:23661368, PMID:23737954, PMID:23755871, PMID:23767834, PMID:23804846, PMID:23924366, PMID:23940504, PMID:23967202, PMID:23991284, PMID:24033266, PMID:24043777, PMID:24088041, PMID:24154662, PMID:24160897, PMID:24164807, PMID:24265693, PMID:24498627, PMID:24516651, PMID:24603341, PMID:24607488, PMID:24625443, PMID:24853665, PMID:24875298, PMID:24901346, PMID:24938718, PMID:24944099, PMID:25078356, PMID:25097241, PMID:25133613, PMID:25133751, PMID:25211151, PMID:25252889, PMID:25261458, PMID:25262649, PMID:25268133, PMID:25324289, PMID:25326637, PMID:25333064, PMID:25356976, PMID:25366773, PMID:25373420, PMID:25375654, PMID:25388789, PMID:25404053, PMID:25412400, PMID:25425308, PMID:25445212, PMID:25468891, PMID:25472526, PMID:25474345, PMID:25521520, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868, PMID:25804404, PMID:25823529, PMID:25910913, PMID:25991456, PMID:25999674, PMID:26075083, PMID:26164827, PMID:26310143, PMID:26338283, PMID:26346818, PMID:26352687, PMID:26377068, PMID:26416264, PMID:26467025, PMID:26496393, PMID:26633545, PMID:26654877, PMID:26667666, PMID:26747767, PMID:26764160, PMID:26766544, PMID:26806561, PMID:26856745, PMID:26872967, PMID:26927203, PMID:26969326, PMID:26992781, PMID:27032803, PMID:27057829, PMID:27145477, PMID:27157150, PMID:27160483, PMID:27208204, PMID:27318125, PMID:27344577, PMID:27353947, PMID:27460420, PMID:27583663, PMID:27596865, PMID:27624628, PMID:27957503, PMID:28000701, PMID:28005958, PMID:28041643, PMID:28127548, PMID:28157192, PMID:28181551, PMID:28224992, PMID:28281779, PMID:28492532, PMID:28512305, PMID:28559085, PMID:28653555, PMID:28761320, PMID:28838317, PMID:28894305, PMID:28944237, PMID:28981474, PMID:28984810, PMID:29074561, PMID:29142287, PMID:29196752, PMID:29293505, PMID:29343940, PMID:29490346, PMID:29551606, PMID:29588463, PMID:29625443, PMID:29641573, PMID:29767709, PMID:29899460, PMID:29912909, PMID:29953849, PMID:29986705, PMID:30029497, PMID:30190494, PMID:30245029, PMID:30280194, PMID:30311386, PMID:30459346, PMID:30543658, PMID:30718709, PMID:30948794, PMID:31877679, PMID:9624053, PMID:10729113 RGD:8547987, RGD:8547961 NCBI chr 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
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
IEA
ClinVar Annotator: match by term: Usher syndrome, type 2C
OMIM:605472
ClinVar Annotator: match by OMIM:605472
ClinVar Annotator: match by term: Usher syndrome type 2c, GPR98/PDZD digenic
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:10234513, PMID:14740321, PMID:15671307, PMID:18414213, PMID:18854872, PMID:19357116, PMID:19357117, PMID:20440071, PMID:21569298, PMID:21946352, PMID:22135276, PMID:22147658, PMID:22334370, PMID:22952768, PMID:23441107, PMID:23767834, PMID:23967202, PMID:24033266, PMID:24123792, PMID:24154662, PMID:24498627, PMID:25133751, PMID:25262649, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25741868, PMID:25741869, PMID:26164827, PMID:26338283, PMID:26467025, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27108799, PMID:27460420, PMID:27575413, PMID:27884173, PMID:28041643, PMID:28492532, PMID:29142287, PMID:29261713 NCBI chr13:81,095,068...81,633,391
Ensembl chr13:81,095,068...81,633,154
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 2c, GPR98/PDZD digenic
OMIM
ClinVar
PMID:20440071, PMID:25741868 NCBI chr19:45,026,907...45,058,633
Ensembl chr19:45,026,906...45,045,717
JBrowse link
G Slc4a7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 IEA OMIM:605472 MouseDO NCBI chr14:14,703,011...14,799,944
Ensembl chr14:14,702,279...14,799,940
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
IEA
ClinVar Annotator: match by term: Usher syndrome, type 2D
OMIM:611383
ClinVar Annotator: match by OMIM:611383
OMIM
ClinVar
MouseDO
PMID:15841483, PMID:17171570, PMID:20352026, PMID:21569298, PMID:21654738, PMID:22135276, PMID:22147658, PMID:23804846, PMID:24033266, PMID:25262649, PMID:25404053, PMID:25468891, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30245029 NCBI chr 4:63,414,908...63,496,083
Ensembl chr 4:63,414,910...63,495,991
JBrowse link
Usher syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Usher Syndrome, Type III
ClinVar Annotator: match by term: Usher syndrome, type 3
ClinVar PMID:7407589, PMID:11524702, PMID:12080385, PMID:12145752, PMID:14569126, PMID:15521980, PMID:16028794, PMID:17407589, PMID:18281613, PMID:19423712, PMID:19753315, PMID:20717163, PMID:21675857, PMID:22681893, PMID:22787034, PMID:23304067, PMID:24033266, PMID:24596593, PMID:25741868, PMID:26180195, PMID:27460420, PMID:28041643, PMID:28492532, PMID:29490346, PMID:30311386 NCBI chr 3:58,844,028...58,885,212
Ensembl chr 3:58,844,028...58,885,340
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
IEA
ClinVar Annotator: match by term: Usher syndrome, type 3A
OMIM:276902
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA
ClinVar Annotator: match by OMIM:276902
ClinVar
MouseDO
OMIM
PMID:7407589, PMID:11524702, PMID:12080385, PMID:12145752, PMID:14569126, PMID:15521980, PMID:16028794, PMID:17407589, PMID:17893653, PMID:18281613, PMID:19423712, PMID:19753315, PMID:20717163, PMID:21675857, PMID:22135276, PMID:22681893, PMID:22787034, PMID:22952768, PMID:23304067, PMID:24033266, PMID:24596593, PMID:25268133, PMID:25741868, PMID:26180195, PMID:26338283, PMID:27460420, PMID:27610647, PMID:28041643, PMID:28471114, PMID:28492532, PMID:29490346, PMID:30311386, PMID:12145752 RGD:634439 NCBI chr 3:58,844,028...58,885,212
Ensembl chr 3:58,844,028...58,885,340
JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars histidyl-tRNA synthetase ISO ClinVar Annotator: match by term: Usher syndrome, type 3B OMIM
ClinVar
PMID:22279524, PMID:22279824, PMID:22930593, PMID:24033266, PMID:25741868, PMID:26072516, PMID:27353947, PMID:28492532, PMID:28632987, PMID:29235198, PMID:29790872 NCBI chr18:36,766,528...36,783,205
Ensembl chr18:36,766,528...36,783,205
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: USHER SYNDROME, TYPE IV ClinVar
OMIM
PMID:29300381 NCBI chr11:109,473,333...109,573,330
Ensembl chr11:109,473,374...109,573,330
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:22135276, PMID:24033266, PMID:25741868, PMID:26164827, PMID:26338283, PMID:27575413, PMID:28041643 NCBI chr13:81,095,068...81,633,391
Ensembl chr13:81,095,068...81,633,154
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 23 (otocadherin) ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:24033266 NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
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 chr10:73,096,277...74,649,831
Ensembl chr10:73,099,342...74,649,737
JBrowse link
visual impairment and progressive phthisis bulbi term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mark3 MAP/microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI ClinVar
OMIM
PMID:29771303 NCBI chr12:111,574,505...111,656,227
Ensembl chr12:111,574,523...111,656,221
JBrowse link
Webb-Dattani Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Webb-Dattani syndrome ClinVar
OMIM
PMID:24022475 NCBI chr 7:84,246,274...84,411,741
Ensembl chr 7:84,246,278...84,410,176
JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005, PMID:25741868, PMID:29760529, PMID:29892088, PMID:30345613 NCBI chr 5:33,820,676...33,897,966
Ensembl chr 5:33,820,725...33,897,975
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by OMIM:222300
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9771706, PMID:9817917, PMID:9856492, PMID:10521293, PMID:10679252, PMID:10760554, PMID:11161832, PMID:11244483, PMID:11260218, PMID:11295831, PMID:11317350, PMID:12022290, PMID:12107816, PMID:12754709, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:16151413, PMID:17492394, PMID:17517145, PMID:17568405, PMID:17603484, PMID:18040659, PMID:18414213, PMID:18806274, PMID:19042979, PMID:19344068, PMID:19877185, PMID:20738327, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21446023, PMID:21538838, PMID:21602428, PMID:22226368, PMID:22238590, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23981289, PMID:23990876, PMID:24033266, PMID:24088041, PMID:24705017, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26025012, PMID:26435059, PMID:26467025, PMID:26633545, PMID:26875006, PMID:27185633, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044, PMID:30014265, PMID:30311386, PMID:9771706 RGD:1599813 NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein IEA
ISO
OMIM:222300
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1
MouseDO
ClinVar
OMIM
PMID:10679252, PMID:10760554, PMID:11161832, PMID:11317350, PMID:12107816, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:17492394, PMID:17517145, PMID:18414213, PMID:20738327, PMID:21446023, PMID:21602428, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23990876, PMID:24033266, PMID:25133958, PMID:25388789, PMID:25741868, PMID:27185633, PMID:28492532, PMID:28590052 NCBI chr 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO
IEA
IMP
ClinVar Annotator: match by term: Wolfram syndrome 2
OMIM:604928
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar Annotator: match by OMIM:604928
OMIM
ClinVar
MouseDO
CTD
PMID:10739754, PMID:17846994, PMID:24705017, PMID:25056293, PMID:25371195, PMID:29237418, PMID:17846994, PMID:19451219 RGD:10045603, RGD:10045601 NCBI chr 3:135,406,412...135,424,039
Ensembl chr 3:135,406,412...135,423,925
JBrowse link
G Slc9b1 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754, PMID:17846994, PMID:25056293 NCBI chr 3:135,347,993...135,397,827
Ensembl chr 3:135,348,029...135,397,827
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13332
    sensory system disease 4966
      eye disease 2564
        Vision Disorders 199
          Alice in Wonderland Syndrome 0
          Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
          Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 1
          Cerebral Visual Impairment and Intellectual Disability 18
          Creutzfeldt-Jakob Disease, Heidenhain Variant 0
          Diplopia 1
          Hemianopsia 0
          Low Vision 0
          Photophobia + 12
          Siegler Brewer Carey Syndrome 0
          Spatial Visualization, Aptitude For 0
          Susac Syndrome 0
          amblyopia + 5
          blindness + 98
          enhanced S-cone syndrome 3
          nerve fibre bundle defect 0
          night blindness + 43
          scotoma + 10
Path 2
Term Annotations click to browse term
  disease 13332
    disease of anatomical entity 12813
      nervous system disease 10373
        sensory system disease 4966
          eye disease 2564
            Vision Disorders 199
              Alice in Wonderland Syndrome 0
              Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction 0
              Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation 1
              Cerebral Visual Impairment and Intellectual Disability 18
              Creutzfeldt-Jakob Disease, Heidenhain Variant 0
              Diplopia 1
              Hemianopsia 0
              Low Vision 0
              Photophobia + 12
              Siegler Brewer Carey Syndrome 0
              Spatial Visualization, Aptitude For 0
              Susac Syndrome 0
              amblyopia + 5
              blindness + 98
              enhanced S-cone syndrome 3
              nerve fibre bundle defect 0
              night blindness + 43
              scotoma + 10
paths to the root

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