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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.


show annotations for term's descendants           Sort by:
 
Vision Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: 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 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G ATXN7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chr20:27,226,957...27,335,327
Ensembl chr20:27,224,375...27,333,445
JBrowse link
G BEST1 bestrophin 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:21273940, PMID:30311386 NCBI chr18:54,468,844...54,483,565
Ensembl chr18:54,468,844...54,480,311
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 chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr  X:42,302,971...42,327,787
Ensembl chr  X:42,303,158...42,326,774
JBrowse link
G CDH3 cadherin 3 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 5:80,864,859...80,912,136
Ensembl chr 5:80,863,661...80,913,019
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 chr 4:32,435,364...32,459,181
Ensembl chr 4:32,439,148...32,459,192
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr29:11,115,865...11,284,713
Ensembl chr29:11,156,340...11,283,627
JBrowse link
G CLN6 CLN6 transmembrane ER protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23789114 NCBI chr30:32,246,394...32,264,251
Ensembl chr30:32,246,411...32,264,240
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit 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 chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL4A5 collagen type IV alpha 5 chain 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:81,982,119...82,248,428
Ensembl chr  X:81,982,275...82,247,679
JBrowse link
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935
JBrowse link
G CP ceruloplasmin ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr23:43,969,297...44,033,226
Ensembl chr23:43,969,435...44,030,369
JBrowse link
G CRB1 crumbs cell polarity complex component 1 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 7:5,277,394...5,490,542
Ensembl chr 7:5,277,394...5,490,470
JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 1:108,249,911...108,261,015
Ensembl chr 1:108,249,911...108,261,010
JBrowse link
G CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:28041643, PMID:28492532, PMID:30311386 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
JBrowse link
G EYS eyes shut homolog ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868, PMID:30311386 NCBI chr12:27,184,500...28,708,705 JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr  X:122,894,974...123,046,343
Ensembl chr  X:122,885,162...123,043,414
JBrowse link
G FZD4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr21:12,699,886...12,709,132
Ensembl chr21:12,699,774...12,724,923
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 chr16:22,640,912...22,683,733
Ensembl chr16:22,642,289...22,683,879
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 chr23:43,939,829...43,979,446
Ensembl chr23:43,939,824...43,988,555
JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr33:7,706,069...7,785,817
Ensembl chr33:7,709,683...7,785,309
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
JBrowse link
G MT-ND4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868 NCBI chr MT:10,201...11,578
Ensembl chr MT:10,201...11,578
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:24033266, PMID:30311386 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G NOTCH3 notch receptor 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 chr20:46,946,654...46,978,821
Ensembl chr20:46,937,485...46,978,219
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 chr30:35,375,181...35,382,398 JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 3:15,707,198...15,716,875
Ensembl chr 3:15,707,640...15,716,875
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 chr12:11,503,184...11,514,977
Ensembl chr12:11,503,240...11,514,929
JBrowse link
G PHF3 PHD finger protein 3 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868, PMID:30311386 NCBI chr12:27,104,504...27,181,657
Ensembl chr12:27,105,398...27,219,496
JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:28492532, PMID:30311386 NCBI chr15:14,176,932...14,187,181
Ensembl chr15:14,178,357...14,187,161
JBrowse link
G PRPF6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr24:47,439,210...47,483,531
Ensembl chr24:47,433,130...47,483,522
JBrowse link
G PRPF8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 9:45,797,882...45,827,365
Ensembl chr 9:45,797,959...45,828,071
JBrowse link
G PRSS23 serine protease 23 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr21:12,792,212...12,813,067
Ensembl chr21:12,793,373...12,803,136
JBrowse link
G RBP4 retinol binding protein 4 ISO retinol-binding protein deficiency;DNA:point mutation:exon:p.I41N, p.G75D (human) RGD PMID:9888420 RGD:1601613 NCBI chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750
JBrowse link
G RDH12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr 8:41,685,045...41,696,120
Ensembl chr 8:41,684,996...41,695,447
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 chr 4:32,489,964...32,499,393
Ensembl chr 4:32,490,220...32,499,098
JBrowse link
G RHO rhodopsin ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr20:5,630,735...5,638,906 JBrowse link
G RP1 RP1 axonemal microtubule associated ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:18791550, PMID:25741868, PMID:28492532 NCBI chr29:6,079,519...6,136,009
Ensembl chr29:6,079,377...6,136,009
JBrowse link
G RP1L1 RP1 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 chr25:27,317,102...27,332,075
Ensembl chr25:27,325,658...27,330,556
JBrowse link
G RPGRIP1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868 NCBI chr15:18,316,887...18,388,724
Ensembl chr15:18,316,887...18,387,735
JBrowse link
G SMAD4 SMAD family member 4 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:23,875,989...23,930,027
Ensembl chr 1:23,882,139...23,969,405
JBrowse link
G SNRNP200 small nuclear ribonucleoprotein U5 subunit 200 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr17:34,472,638...34,505,332
Ensembl chr17:34,472,767...34,505,333
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 chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
JBrowse link
G TSEN2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr20:6,031,295...6,090,938
Ensembl chr20:6,050,357...6,207,981
JBrowse link
G TSEN34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 1:103,021,519...103,027,460
Ensembl chr 1:103,021,525...103,026,643
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483
JBrowse link
G TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:28492532, PMID:30311386 NCBI chr15:14,189,271...14,201,679
Ensembl chr15:14,189,658...14,200,245
JBrowse link
G TTPA alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr29:13,177,690...13,198,910
Ensembl chr29:13,182,308...13,192,553
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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 chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
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 chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit 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 chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit 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 chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:10393054, PMID:18614542, PMID:19615668, PMID:19887631, PMID:23776498, PMID:25741868, PMID:26103963, PMID:28041643, PMID:28492532, PMID:28704108, PMID:30080950 NCBI chr28:7,839,604...7,887,827
Ensembl chr28:7,839,847...7,887,776
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 subunit 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
RGD
ClinVar
PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17693388, PMID:18521937, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24903488, PMID:25616768, PMID:25741868, PMID:25943428, PMID:26992781, PMID:28492532, PMID:30311386, PMID:30682209 RGD:9068452 NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 treatment ISO ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
DNA:deletion: :c.1148delC (human)
RGD
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:21576125, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25558176, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709 RGD:9068446, RGD:9068450 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
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 subfamily A 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 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IEA
ISO
Achromatopsia-2 OMIA
OMIM
PMID:26407004 NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit 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 chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
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 subunit beta 3 ISO
IEA
Achromatopsia (cone degeneration, hemeralopia), GSPT
Achromatopsia (cone degeneration, hemeralopia), AMAL
OMIM
OMIA
PMID:5298491, PMID:12140185, PMID:16879359, PMID:20061167, PMID:20378608, PMID:22065099, PMID:23568263, PMID:23601474, PMID:25752464, PMID:29020838 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAT2 G protein subunit alpha transducin 2 ISO OMIM NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19887631, PMID:25741868, PMID:30080950 NCBI chr28:7,839,604...7,887,827
Ensembl chr28:7,839,847...7,887,776
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 OMIM NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
Amaurosis Fugax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:15073384 RGD:1582361 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chr 1:107,486,399...107,490,151
Ensembl chr 1:107,486,438...107,489,222
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 chr32:16,807,217...16,809,294
Ensembl chr32:16,807,336...16,808,406
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:30311386 NCBI chr  X:42,302,971...42,327,787
Ensembl chr  X:42,303,158...42,326,774
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 3:85,645,942...86,284,570
Ensembl chr 3:86,016,140...86,281,269
JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868 NCBI chr35:10,157,043...10,180,484
Ensembl chr35:10,157,882...10,180,270
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 chr 9:5,009,468...5,016,513
Ensembl chr 9:5,009,468...5,016,483
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 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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO OMIM NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689
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 OMIM NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
JBrowse link
blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: 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 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 susceptibility ISO RGD PMID:10873396 RGD:1599003 NCBI chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128
JBrowse link
G AQP4 aquaporin 4 ISO associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25558065, PMID:27270415 NCBI chr 4:8,409,039...8,424,776
Ensembl chr 4:8,409,484...8,424,644
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697
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 chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
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 chr36:24,708,109...24,839,240
Ensembl chr36:24,710,035...24,859,028
JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr25:39,975,547...40,106,833
Ensembl chr25:39,975,586...40,104,782
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187
JBrowse link
G LCA5 lebercilin LCA5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chr12:40,443,759...40,527,300
Ensembl chr12:40,444,617...40,527,292
JBrowse link
G LRRK2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr27:13,282,824...13,420,917
Ensembl chr27:13,283,756...13,420,870
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: VISION LOSS ClinVar NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: VISION LOSS ClinVar PMID:21520333, PMID:28492532, PMID:30311386 NCBI chr 9:41,467,460...41,679,388
Ensembl chr 9:41,469,416...41,679,382
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724, PMID:16226919 NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131
JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr14:58,941,658...59,005,507
Ensembl chr14:58,941,551...59,005,463
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 chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:23093773 RGD:11075234 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 chr 8:47,455,337...47,473,786
Ensembl chr 8:47,455,340...47,473,684
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, short wave sensitive ISO OMIM NCBI chr14:7,865,370...7,869,516
Ensembl chr14:7,865,561...7,868,745
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, medium wave sensitive ISO OMIM NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418
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 OMIM NCBI chr 2:79,367,154...79,393,096
Ensembl chr 2:79,367,185...79,392,314
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 ACP6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr17:58,213,016...58,230,934
Ensembl chr17:58,193,586...58,230,491
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 2:72,711,626...72,762,802
Ensembl chr 2:72,747,701...72,752,605
JBrowse link
G AMOT angiomotin ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr  X:85,742,610...85,807,557
Ensembl chr  X:85,745,207...85,807,353
JBrowse link
G ARHGEF10L Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 2:80,666,992...80,827,032
Ensembl chr 2:80,642,298...80,808,567
JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr33:18,038,143...18,103,649
Ensembl chr33:18,038,801...18,101,435
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 7:30,413,441...30,544,421
Ensembl chr 7:30,413,553...30,544,260
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 chr 5:32,165,399...32,175,600
Ensembl chr 5:32,163,594...32,188,126
JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 4:49,342,527...49,579,697
Ensembl chr 4:49,342,508...49,578,092
JBrowse link
G KCTD19 potassium channel tetramerization domain containing 19 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 5:82,060,946...82,093,248
Ensembl chr 5:82,061,449...82,093,246
JBrowse link
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:25804403, PMID:26350515 NCBI chr37:6,430,344...6,499,310
Ensembl chr37:6,431,476...6,499,359
JBrowse link
G RERE arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515, PMID:27087320 NCBI chr 5:61,868,288...62,249,009
Ensembl chr 5:61,868,685...62,215,973
JBrowse link
G SLC1A1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 1:92,898,274...92,978,260
Ensembl chr 1:92,898,274...92,978,260
JBrowse link
G SLC25A16 solute carrier family 25 member 16 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 4:19,695,305...19,738,832
Ensembl chr 4:19,697,034...19,738,834
JBrowse link
G SOX5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr27:22,857,661...23,855,709
Ensembl chr27:23,452,985...23,851,380
JBrowse link
G SPATA6L spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 1:92,994,949...93,041,135
Ensembl chr 1:92,994,946...93,041,135
JBrowse link
G UFSP2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr16:45,208,741...45,230,041
Ensembl chr16:45,208,863...45,229,996
JBrowse link
G UHMK1 U2AF homology motif kinase 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr38:20,247,564...20,277,941
Ensembl chr38:20,190,375...20,277,923
JBrowse link
G ZFP30 ZFP30 zinc finger protein ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chr 1:115,744,884...115,804,289
Ensembl chr 1:115,787,186...115,803,956
Ensembl chr 1:115,787,186...115,803,956
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 chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
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 chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
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:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Color vision defects
ClinVar Annotator: match by term: Achromatopsia
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9662398, PMID:11536077, PMID:14757870, PMID:17693388, PMID:23972307, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30418171, PMID:30682209 RGD:734792 NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 susceptibility ISO DNA:mutations
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10958649, PMID:30418171 RGD:1600870 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12077706 RGD:1599034 NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
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 chr30:35,375,181...35,382,398 JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372
JBrowse link
G PDE6H phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr27:31,640,731...31,664,494
Ensembl chr27:31,640,737...31,664,401
JBrowse link
G RDH5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chr10:120,386...125,195
Ensembl chr10:120,057...125,197
JBrowse link
G RP2 RP2 activator of ARL3 GTPase 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:40,472,525...40,525,726
Ensembl chr  X:40,472,596...40,524,883
JBrowse link
G RS1 retinoschisin 1 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:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492
JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:48,651,766...48,920,733
Ensembl chr 8:48,651,814...48,920,039
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 subfamily A member 4 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:12515255, PMID:28041643 NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar PMID:28492532 NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A
DNA:mutation:cds: c.2941C>T (rat)
CTD
ClinVar
RGD
PMID:9662399, PMID:9662400, PMID:12111638, PMID:18246026, PMID:25307992, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:30825406 RGD:13782370, RGD:734671 NCBI chr  X:42,302,971...42,327,787
Ensembl chr  X:42,303,158...42,326,774
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:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233
JBrowse link
G DENND4A DENN domain containing 4A ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar NCBI chr30:29,999,192...30,138,163
Ensembl chr30:29,996,743...30,089,242
JBrowse link
G GNAT1 G protein subunit alpha transducin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Dominant
CTD
ClinVar
NCBI chr20:39,128,244...39,133,280
Ensembl chr20:39,128,244...39,133,280
JBrowse link
G GNB3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr27:38,175,928...38,182,473
Ensembl chr27:38,175,931...38,181,763
JBrowse link
G GPR179 G protein-coupled receptor 179 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
ClinVar Annotator: match by term: Congenital stationary night blindness
CTD
ClinVar
PMID:22325361, PMID:22325362, PMID:24033266, PMID:28041643 NCBI chr 9:23,810,560...23,827,684
Ensembl chr 9:23,810,474...23,826,087
JBrowse link
G GRK1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chr22:60,911,953...60,929,330
Ensembl chr22:60,911,953...60,926,146
JBrowse link
G GRM6 glutamate metabotropic receptor 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 chr11:2,577,988...2,598,893
Ensembl chr11:2,577,988...2,597,575
JBrowse link
G LRIT3 leucine rich repeat, Ig-like and transmembrane domains 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD
ClinVar
PMID:28492532 NCBI chr32:30,024,765...30,044,845
Ensembl chr32:30,026,897...30,041,996
JBrowse link
G NYX nyctalopin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital stationary night blindness, X-linked
CTD
ClinVar
NCBI chr  X:35,849,190...35,868,048 JBrowse link
G PDE6A phosphodiesterase 6A ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:7493036, PMID:30311386 NCBI chr 4:59,103,965...59,163,857
Ensembl chr 4:59,103,945...59,163,857
JBrowse link
G PDE6B phosphodiesterase 6B 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 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372
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 chr20:5,630,735...5,638,906 JBrowse link
G RP1L1 RP1 like 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30311386 NCBI chr25:27,317,102...27,332,075
Ensembl chr25:27,325,658...27,330,556
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28041643 NCBI chr  X:33,056,371...33,105,036
Ensembl chr  X:32,745,020...33,330,841
JBrowse link
G RS1 retinoschisin 1 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:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492
JBrowse link
G SAG S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chr25:44,800,141...44,843,580
Ensembl chr25:44,812,362...44,843,579
JBrowse link
G SLC24A1 solute carrier family 24 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
CTD
ClinVar
PMID:28492532 NCBI chr30:29,967,762...29,996,762
Ensembl chr30:29,967,762...29,995,005
JBrowse link
G TRPM1 transient receptor potential cation channel subfamily M member 1 ISO DNA:deletion, missense mutations:cds: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:exon, intron:multiple (human)
DNA:mutations:multiple (human)
RGD
ClinVar
CTD
PMID:19878917, PMID:19896109, PMID:19896113, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386 RGD:7175555, RGD:7183084, RGD:7183085 NCBI chr 3:37,860,730...37,949,108
Ensembl chr 3:37,817,339...37,949,108
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chr 9:47,365,275...47,398,198
Ensembl chr 9:47,368,544...47,401,362
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 chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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 OMIM NCBI chr  X:35,849,190...35,868,048 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 domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr30:29,999,192...30,138,163
Ensembl chr30:29,996,743...30,089,242
JBrowse link
G GPR179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chr 9:23,810,560...23,827,684
Ensembl chr 9:23,810,474...23,826,087
JBrowse link
G GRM6 glutamate metabotropic receptor 6 ISO OMIM NCBI chr11:2,577,988...2,598,893
Ensembl chr11:2,577,988...2,597,575
JBrowse link
G SLC24A1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chr30:29,967,762...29,996,762
Ensembl chr30:29,967,762...29,995,005
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 domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C
ClinVar NCBI chr30:29,999,192...30,138,163
Ensembl chr30:29,996,743...30,089,242
JBrowse link
G GPR179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chr 9:23,810,560...23,827,684
Ensembl chr 9:23,810,474...23,826,087
JBrowse link
G MIR211 microRNA mir-211 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C ClinVar PMID:25741868 NCBI chr 3:37,882,660...37,882,759
Ensembl chr 3:37,882,660...37,882,759
JBrowse link
G SLC24A1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1C
ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chr30:29,967,762...29,996,762
Ensembl chr30:29,967,762...29,995,005
JBrowse link
G TRPM1 transient receptor potential cation channel subfamily M member 1 ISO OMIM NCBI chr 3:37,860,730...37,949,108
Ensembl chr 3:37,817,339...37,949,108
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 domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr30:29,999,192...30,138,163
Ensembl chr30:29,996,743...30,089,242
JBrowse link
G GPR179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chr 9:23,810,560...23,827,684
Ensembl chr 9:23,810,474...23,826,087
JBrowse link
G SLC24A1 solute carrier family 24 member 1 ISO OMIM NCBI chr30:29,967,762...29,996,762
Ensembl chr30:29,967,762...29,995,005
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 domain containing 4A ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar NCBI chr30:29,999,192...30,138,163
Ensembl chr30:29,996,743...30,089,242
JBrowse link
G GPR179 G protein-coupled receptor 179 ISO OMIM NCBI chr 9:23,810,560...23,827,684
Ensembl chr 9:23,810,474...23,826,087
JBrowse link
G SLC24A1 solute carrier family 24 member 1 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:12037007, PMID:20850105, PMID:25741868, PMID:26822852, PMID:28492532 NCBI chr30:29,967,762...29,996,762
Ensembl chr30:29,967,762...29,995,005
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, Ig-like and transmembrane domains 3 ISO OMIM NCBI chr32:30,024,765...30,044,845
Ensembl chr32:30,026,897...30,041,996
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 G protein subunit alpha transducin 1 ISO OMIM NCBI chr20:39,128,244...39,133,280
Ensembl chr20:39,128,244...39,133,280
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 chr27:38,172,717...38,174,963
Ensembl chr27:38,172,988...38,176,548
JBrowse link
G GNB3 G protein subunit beta 3 ISO OMIM NCBI chr27:38,175,928...38,182,473
Ensembl chr27:38,175,931...38,181,763
JBrowse link
Congenital Stationary Night Blindness 1I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GUCY2D guanylate cyclase 2D, retinal ISO OMIM NCBI chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687
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 voltage-gated channel subunit alpha1 F ISO OMIM NCBI chr  X:42,302,971...42,327,787
Ensembl chr  X:42,303,158...42,326,774
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 OMIM NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854
JBrowse link
G GPR152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 2B ClinVar NCBI chr18:50,019,898...50,022,587
Ensembl chr18:50,020,286...50,021,695
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 OMIM NCBI chr20:5,630,735...5,638,906 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 ISO OMIM NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372
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 G protein subunit alpha transducin 1 ISO OMIM NCBI chr20:39,128,244...39,133,280
Ensembl chr20:39,128,244...39,133,280
JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TIMM8A translocase of inner mitochondrial membrane 8A ISO OMIM NCBI chr  X:75,267,437...75,270,288
Ensembl chr  X:75,267,450...75,270,288
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 chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822
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 ISO ClinVar Annotator: match by term: Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave ClinVar PMID:8817332 NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
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 OMIM NCBI chr30:35,375,181...35,382,398 JBrowse link
G NRL neural retina leucine zipper ISO ClinVar Annotator: match by term: Enhanced s-cone syndrome ClinVar PMID:27732723 NCBI chr 8:4,086,487...4,090,373
Ensembl chr 8:4,086,508...4,089,216
JBrowse link
G PRPH2 peripherin 2 ISO RGD PMID:23650562 RGD:8554862 NCBI chr12:11,299,236...11,316,175
Ensembl chr12:11,299,236...11,316,175
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:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233
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 chr22:60,911,953...60,929,330
Ensembl chr22:60,911,953...60,926,146
JBrowse link
G RS1 retinoschisin 1 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:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492
JBrowse link
G SAG S-antigen visual arrestin IEA Progressive retinal atrophy, Basenji OMIA PMID:16859891, PMID:24019744 NCBI chr25:44,800,141...44,843,580
Ensembl chr25:44,812,362...44,843,579
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 chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
ichthyosis follicularis-alopecia-photophobia syndrome 1 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 chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chr  X:17,655,295...17,718,960
Ensembl chr  X:17,655,363...17,710,288
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 subfamily A member 4 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:25741868, PMID:28118664, PMID:28446513, PMID:29971439, PMID:30311386 NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:30311386 NCBI chr  X:42,302,971...42,327,787
Ensembl chr  X:42,303,158...42,326,774
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:14,512,226...14,725,348
Ensembl chr  X:14,512,178...14,725,233
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:20683928, PMID:25741868, PMID:28492532 NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
JBrowse link
G CEP78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:30311386 NCBI chr 1:80,437,902...80,469,383
Ensembl chr 1:80,438,695...80,469,350
JBrowse link
G CHM CHM Rab escort protein ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:25741868 NCBI chr  X:66,636,003...66,880,256
Ensembl chr  X:66,639,095...66,880,209
JBrowse link
G CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:28041643, PMID:28492532, PMID:30311386 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
JBrowse link
G GNAT1 G protein subunit alpha transducin 1 ISO RGD PMID:8673138 RGD:1599006 NCBI chr20:39,128,244...39,133,280
Ensembl chr20:39,128,244...39,133,280
JBrowse link
G GRK1 G protein-coupled receptor kinase 1 ISO DNA:deletions, missense mutation, frameshift mutation RGD PMID:9020843 RGD:1600000 NCBI chr22:60,911,953...60,929,330
Ensembl chr22:60,911,953...60,926,146
JBrowse link
G GUCY2D guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:30311386 NCBI chr 5:32,844,033...32,859,263
Ensembl chr 5:32,844,033...32,857,687
JBrowse link
G NRL neural retina leucine zipper ISO CTD Direct Evidence: marker/mechanism CTD PMID:12796249, PMID:15591106 NCBI chr 8:4,086,487...4,090,373
Ensembl chr 8:4,086,508...4,089,216
JBrowse link
G NYX nyctalopin susceptibility ISO Congenital stationary night blindness type1A, OMIM:310500;DNA:mutations RGD PMID:11062471 RGD:1601021 NCBI chr  X:35,849,190...35,868,048 JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:11487575, PMID:22981120, PMID:30311386 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372
JBrowse link
G PDE6H phosphodiesterase 6H ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:22901948, PMID:27472364, PMID:30311386 NCBI chr27:31,640,731...31,664,494
Ensembl chr27:31,640,737...31,664,401
JBrowse link
G POLR2F RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:30311386 NCBI chr10:26,694,895...26,707,451
Ensembl chr10:26,691,256...26,707,507
JBrowse link
G RDH5 retinol dehydrogenase 5 ISO fundus albipunctatus (congenital night-blindness disorder), OMIM:601617 Gly238Trp, Arg280His, Ala294Pro
ClinVar Annotator: match by term: Night-blindness
RGD
ClinVar
PMID:10617778, PMID:30311386, PMID:30718709 RGD:1599416 NCBI chr10:120,386...125,195
Ensembl chr10:120,057...125,197
JBrowse link
G RHO rhodopsin ISO CSNBAD1,OMIM:610445;DNA:point mutation:exon:A292E
ClinVar Annotator: match by term: Night-blindness
RGD
ClinVar
PMID:1862076, PMID:2215617, PMID:8358437, PMID:20555336, PMID:25221422, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386 RGD:1601620 NCBI chr20:5,630,735...5,638,906 JBrowse link
G RLBP1 retinaldehyde binding protein 1 ISO Fundus albipunctatus, OMIM:180090 RGD PMID:11453974 RGD:1599620 NCBI chr 3:52,260,872...52,282,532
Ensembl chr 3:52,260,944...52,282,134
JBrowse link
G RP2 RP2 activator of ARL3 GTPase 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:40,472,525...40,525,726
Ensembl chr  X:40,472,596...40,524,883
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:9326941, PMID:9501220, PMID:18632300, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131
JBrowse link
G RS1 retinoschisin 1 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:14,727,016...14,749,674
Ensembl chr  X:14,727,062...14,749,492
JBrowse link
G SOX10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:30311386 NCBI chr10:26,680,441...26,690,530
Ensembl chr10:26,681,122...26,689,882
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 chr 8:60,061,670...60,115,464
Ensembl chr 8:60,061,732...60,115,075
JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:28492532, PMID:30311386 NCBI chr 8:48,651,766...48,920,733
Ensembl chr 8:48,651,814...48,920,039
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 chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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 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 chr21:12,699,886...12,709,132
Ensembl chr21:12,699,774...12,724,923
JBrowse link
G NDP norrin cystine knot growth factor NDP ISO OMIM NCBI chr  X:37,949,560...37,975,573
Ensembl chr  X:37,950,489...37,975,346
JBrowse link
G PRSS23 serine protease 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 chr21:12,792,212...12,813,067
Ensembl chr21:12,793,373...12,803,136
JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr14:58,941,658...59,005,507
Ensembl chr14:58,941,551...59,005,463
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 visual arrestin ISO OMIM NCBI chr25:44,800,141...44,843,580
Ensembl chr25:44,812,362...44,843,579
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 OMIM NCBI chr22:60,911,953...60,929,330
Ensembl chr22:60,911,953...60,926,146
JBrowse link
Photophobia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: 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 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G ATF6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:21436283, PMID:23804846, PMID:24033266, PMID:24875298, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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 chr 4:32,435,364...32,459,181
Ensembl chr 4:32,439,148...32,459,192
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit 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 chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit 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 chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
G IMPG2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:30311386 NCBI chr33:7,706,069...7,785,817
Ensembl chr33:7,709,683...7,785,309
JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372
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 chr 4:32,489,964...32,499,393
Ensembl chr 4:32,490,220...32,499,098
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:22135276, PMID:24033266, PMID:30311386 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
red color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, medium wave sensitive ISO OMIM NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418
JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507, PMID:16963483, PMID:18429043, PMID:19683999, PMID:21174530, 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 chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
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 chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687
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 chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
JBrowse link
scotoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: 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 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G BBS5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:15137946, PMID:21209035, PMID:28492532, PMID:30311386 NCBI chr36:14,206,917...14,233,726 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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 chr36:24,708,109...24,839,240
Ensembl chr36:24,710,035...24,859,028
JBrowse link
G IFT140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chr 6:39,262,887...39,308,912
Ensembl chr 6:39,295,045...39,308,758
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chr 2:84,284,719...84,310,715
Ensembl chr 2:84,284,719...84,308,225
JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372
JBrowse link
G RAX2 retina and anterior neural fold homeobox 2 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:28492532, PMID:30311386 NCBI chr20:55,706,422...55,709,141
Ensembl chr20:55,707,126...55,708,225
JBrowse link
G RP2 RP2 activator of ARL3 GTPase 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:40,472,525...40,525,726
Ensembl chr  X:40,472,596...40,524,883
JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chr11:49,809,156...49,821,224
Ensembl chr11:49,809,465...49,821,075
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 OMIM NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320
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 chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G ARSG arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr 9:15,048,563...15,115,095
Ensembl chr 9:15,048,588...15,115,101
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255, PMID:12524598, PMID:12677556, PMID:12837689, PMID:15314642, 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 chr18:50,816,126...50,835,354 JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,834,642...14,857,242
Ensembl chr38:14,834,643...14,857,227
JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog 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 chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 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 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G CEP250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881, PMID:25741868 NCBI chr24:24,411,882...24,461,916
Ensembl chr24:24,418,859...24,461,640
JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:16,196,354...16,233,640
Ensembl chr38:16,196,635...16,231,315
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621
JBrowse link
G ESRRG estrogen related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:11,825,055...12,439,143
Ensembl chr38:11,823,520...12,256,028
JBrowse link
G GPATCH2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:12,682,263...12,850,587
Ensembl chr38:12,685,619...12,850,529
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G HHIPL2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:16,791,695...16,818,482
Ensembl chr38:16,791,695...16,818,411
JBrowse link
G HLX H2.0 like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,538,744...15,543,686
Ensembl chr38:15,539,029...15,542,152
JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635
JBrowse link
G LYPLAL1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,100,818...14,137,292
Ensembl chr38:14,100,698...14,268,481
JBrowse link
G MARK1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,270,523...15,341,934
Ensembl chr38:15,273,004...15,340,448
JBrowse link
G MIR194 microRNA mir-194 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,895,401...14,895,458
Ensembl chr38:14,895,401...14,895,458
JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,460,548...15,490,941
Ensembl chr38:15,463,548...15,532,241
JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,426,884...15,451,701
Ensembl chr38:15,426,666...15,451,136
JBrowse link
G MYO7A myosin VIIA ISO CTD Direct Evidence: marker/mechanism
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
ClinVar
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 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G PCDH15 protocadherin related 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD
ClinVar
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 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Hallgren syndrome
ClinVar Annotator: match by term: Usher syndrome
ClinVar PMID:18429043, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,927,670...15,025,554
Ensembl chr38:14,928,628...15,025,865
JBrowse link
G RRP15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:13,377,518...13,416,809
Ensembl chr38:13,377,571...13,421,810
JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540
JBrowse link
G SPATA17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:12,850,773...13,058,137
Ensembl chr38:12,850,469...13,146,096
JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:16,827,853...16,858,506
Ensembl chr38:16,828,205...16,858,432
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242
JBrowse link
G USH1C USH1 protein network component harmonin treatment ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Usher syndrome
RGD
ClinVar
PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12630964, PMID:12702164, PMID:14519688, 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 RGD:8694457, RGD:8694458, RGD:8695937, RGD:8695939 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G USH2A usherin susceptibility ISO DNA:snps, insertion:exon, intron:multiple (human)
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome
RGD
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:18452394, 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 RGD:8547956 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255, PMID:12524598, PMID:12677556, PMID:12837689, PMID:15314642, 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 chr18:50,801,179...50,808,480
Ensembl chr18:50,801,303...50,806,877
JBrowse link
Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298, PMID:24033266, PMID:28492532 NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog 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 chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 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 chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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
G ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:29572253 NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
JBrowse link
G MYO7A myosin VIIA ISO 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
RGD
ClinVar
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:15592175, 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 RGD:8694152 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G OTOP2 otopetrin 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298 NCBI chr 9:5,518,178...5,527,783
Ensembl chr 9:5,518,578...5,536,725
JBrowse link
G PCDH15 protocadherin related 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 chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G USH1C USH1 protein network component harmonin onset ISO DNA:mutation:cds: c.216G>A(human)
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
DNA:deletion:exon:c.1220delG(human)
DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
RGD
ClinVar
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:23251578, PMID:23380860, PMID:24033266, PMID:24498627, PMID:25356976, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30718709 RGD:8695918, RGD:8695919, RGD:8695921 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
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 chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
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 chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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 OMIM
RGD
PMID:23991031 RGD:8694151 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G PCDH15 protocadherin related 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 chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
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 chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
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 OMIM NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1D
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 chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO OMIM NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G PCDH15 protocadherin related 15 ISO OMIM NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
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 chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO OMIM NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
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 chr 9:5,518,178...5,527,783
Ensembl chr 9:5,518,578...5,536,725
JBrowse link
G PCDH15 protocadherin related 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 chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G USH1G USH1 protein network component sans ISO OMIM NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
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 OMIM
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESPN espin ISO OMIM NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
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 chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G USH2A usherin susceptibility ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human)
DNA:snp:intron:c.7595-2144A>G (human)
DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
RGD
ClinVar
PMID:10729113, PMID:10738000, PMID:10775529, PMID:10909849, PMID:11311042, PMID:12112664, 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 RGD:8547952, RGD:8547962, RGD:8547965, RGD:8547985, RGD:8694137 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
Usher syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G CDH23 cadherin related 23 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 chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar PMID:21681106 NCBI chr38:11,016,344...11,059,843
Ensembl chr38:11,008,857...11,084,871
JBrowse link
G PDZD7 PDZ domain containing 7 ISO OMIM NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784
JBrowse link
G USH2A usherin susceptibility ISO DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human)
OMIM
RGD
PMID:9624053, PMID:10729113 RGD:8547961, RGD:8547987 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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 OMIM NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G PDZD7 PDZ domain containing 7 ISO OMIM NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784
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 OMIM NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
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 chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178
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 OMIM NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178
JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HARS1 histidyl-tRNA synthetase 1 ISO OMIM NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
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 OMIM NCBI chr 9:15,048,563...15,115,095
Ensembl chr 9:15,048,588...15,115,101
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 chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:24033266 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665, PMID:15660226, PMID:24033266 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
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 microtubule affinity regulating kinase 3 ISO OMIM NCBI chr 8:71,148,263...71,269,717
Ensembl chr 8:71,102,690...71,270,399
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 OMIM NCBI chr 3:57,005,106...57,139,585
Ensembl chr 3:57,008,570...57,159,713
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 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar
RGD
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 RGD:1599813 NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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 ISO OMIM NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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 OMIM NCBI chr32:24,257,909...24,274,732
Ensembl chr32:24,257,994...24,274,064
JBrowse link
G SLC9B1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754, PMID:17846994, PMID:25056293 NCBI chr32:24,292,961...24,352,795
Ensembl chr32:24,272,035...24,352,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12677
    sensory system disease 4763
      eye disease 2450
        Vision Disorders 194
          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 + 92
          enhanced S-cone syndrome 3
          nerve fibre bundle defect 0
          night blindness + 43
          scotoma + 10
Path 2
Term Annotations click to browse term
  disease 12677
    disease of anatomical entity 12216
      nervous system disease 9962
        sensory system disease 4763
          eye disease 2450
            Vision Disorders 194
              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 + 92
              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.