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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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Vision Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn7 ataxin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25664129 NCBI chrNW_004936637:2,422,260...2,508,681 JBrowse link
G Best1 bestrophin 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:21273940, PMID:30311386 NCBI chrNW_004936581:1,120,681...1,132,226 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 chrNW_004936697:1,054,237...1,061,468 JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936592:4,728,371...4,833,830 JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936721:1,078,570...1,106,153 JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936475:18,908,031...18,954,402 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 chrNW_004936767:805,910...829,838 JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936496:12,381,225...12,505,121 JBrowse link
G Cln6 CLN6 transmembrane ER protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:23789114 NCBI chrNW_004936471:28,069,058...28,084,607 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 chrNW_004936744:1,499,431...1,537,784 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936544:1,166,896...1,305,339 JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936490:11,448,552...11,465,836 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 chrNW_004936499:6,143,736...6,360,565 JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936529:348,938...381,701 JBrowse link
G Cp ceruloplasmin ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936519:6,431,156...6,473,183 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 chrNW_004936567:6,347,661...6,559,731 JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:28041643, PMID:28492532, PMID:30311386 NCBI chrNW_004936531:7,865,907...8,036,020 JBrowse link
G Eys eyes shut homolog ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936476:158,391...1,289,639 JBrowse link
G F8 coagulation factor VIII ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936927:189,359...301,791 JBrowse link
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936498:14,657,641...14,666,853 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 chrNW_004936570:257,636...297,797 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 chrNW_004936519:6,470,077...6,530,897 JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936630:1,982,860...2,069,472 JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936485:8,857,688...8,894,270 JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936474:767,754...795,258 JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:24033266, PMID:30311386 NCBI chrNW_004936498:5,758,572...5,824,526 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 chrNW_004936596:5,265,984...5,301,430 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 chrNW_004936471:31,229,322...31,236,093 JBrowse link
G Nr2f1 nuclear receptor subfamily 2 group F member 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936523:9,508,204...9,517,266 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 chrNW_004936476:16,948,137...16,963,601 JBrowse link
G Phf3 PHD finger protein 3 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936476:1,295,697...1,380,608 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 chrNW_004936474:27,229,262...27,239,034 JBrowse link
G Prpf6 pre-mRNA processing factor 6 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936514:11,175,410...11,220,928 JBrowse link
G Prpf8 pre-mRNA processing factor 8 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936538:7,780,022...7,814,575 JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936498:14,560,730...14,563,195 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 chrNW_004936601:1,401,215...1,410,195 JBrowse link
G Rdh12 retinol dehydrogenase 12 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936495:11,111,247...11,121,976 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 chrNW_004936767:855,811...866,941 JBrowse link
G Rho rhodopsin ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936602:896,730...901,480 JBrowse link
G Rp1 RP1 axonemal microtubule associated ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:18791550, PMID:25741868, PMID:28492532 NCBI chrNW_004936496:1,396,838...1,411,082 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 chrNW_004936675:2,527,406...2,564,464 JBrowse link
G Rpgrip1 RPGR interacting protein 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868 NCBI chrNW_004936880:440,900...511,503 JBrowse link
G Smad4 SMAD family member 4 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chrNW_004936497:12,242,869...12,278,012 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 chrNW_004936544:6,887,867...6,931,669 JBrowse link
G Tsen2 tRNA splicing endonuclease subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chrNW_004936602:1,163,927...1,195,163 JBrowse link
G Tsen34 tRNA splicing endonuclease subunit 34 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chrNW_004936994:296,012...300,958 JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18711368 NCBI chrNW_004936594:744,531...753,350 JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004936474:27,221,691...27,227,226 JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chrNW_004936496:10,409,948...10,466,722 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Visual impairment ClinVar PMID:30311386 NCBI chrNW_004936628:2,123,917...2,859,958 JBrowse link
achromatopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807, PMID:23714322, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chrNW_004936599:2,295,124...2,299,558 JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004936606:2,011,454...2,118,255 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 chrNW_004936744:1,499,431...1,537,784 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 chrNW_004936544:1,166,896...1,305,339 JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chrNW_004936704:1,079,255...1,093,732 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 chrNW_004936601:1,343,538...1,393,605 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 chrNW_004936744:1,499,431...1,537,784 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 chrNW_004936544:1,166,896...1,305,339 JBrowse link
achromatopsia 2 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 OMIM NCBI chrNW_004936744:1,499,431...1,537,784 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 chrNW_004936544:1,166,896...1,305,339 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 OMIM NCBI chrNW_004936544:1,166,896...1,305,339 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 chrNW_004936704:1,079,255...1,093,732 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 chrNW_004936601:1,343,538...1,393,605 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 chrNW_004936551:5,167,909...5,175,149 JBrowse link
G Ppp1r15a protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chrNW_004936664:2,910,609...2,914,205 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 chrNW_004936687:1,435,977...1,437,138 JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:30311386 NCBI chrNW_004936721:1,078,570...1,106,153 JBrowse link
G Ppargc1a PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chrNW_004936477:4,881,230...5,488,208 JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868 NCBI chrNW_004936534:2,481,804...2,518,573 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 chrNW_004936594:744,531...753,350 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 chrNW_004936563:1,713,294...1,732,431 JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO OMIM NCBI chrNW_004936499:7,114,838...7,136,468 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 chrNW_004936477:18,339,915...18,364,973 JBrowse link
blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aipl1 aryl hydrocarbon receptor interacting protein like 1 susceptibility ISO RGD PMID:10873396 RGD:1599003 NCBI chrNW_004936677:1,539,502...1,548,343 JBrowse link
G Aqp4 aquaporin 4 ISO associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chrNW_004936550:5,931,201...5,943,999 JBrowse link
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25558065, PMID:27270415 NCBI chrNW_004936484:19,551,293...19,562,132 JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chrNW_004936586:1,782,581...1,809,458 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 chrNW_004936507:5,223,756...5,305,392 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 chrNW_004936509:10,294,247...10,404,743 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chrNW_004936525:8,642,744...8,774,975 JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chrNW_004936491:2,159,654...2,214,480 JBrowse link
G Lca5 lebercilin LCA5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chrNW_004936510:10,652,378...10,702,761 JBrowse link
G Lrrk2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chrNW_004936607:628,469...761,117 JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: VISION LOSS ClinVar PMID:21520333, PMID:28492532, PMID:30311386 NCBI chrNW_004936538:3,394,623...3,596,025 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724, PMID:16226919 NCBI chrNW_004936591:3,347,346...3,368,062 JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chrNW_004936605:4,265,475...4,338,518 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 chrNW_004936628:2,123,917...2,859,958 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:23093773 RGD:11075234 NCBI chrNW_004936476:16,245,134...16,261,180 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 chrNW_004936488:3,487,718...3,507,802 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 chrNW_004936479:15,696,063...15,702,311 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 chrNW_004936474:5,512,100...5,539,198 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 chrNW_004936867:171,808...189,266 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 chrNW_004936474:11,824,692...11,846,355 JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004936499:2,594,190...2,661,307 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 chrNW_004936474:4,364,244...4,448,975 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 chrNW_004936536:1,257,801...1,314,770 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 chrNW_004936481:18,133,115...18,228,122 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 chrNW_004936595:487,918...513,843 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 chrNW_004936515:2,127,107...2,359,697 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 chrNW_004936475:17,746,121...17,776,537 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 chrNW_004936506:2,224,598...2,297,022 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 chrNW_004936623:2,678,627...2,942,387 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 chrNW_004936503:613,250...690,555 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 chrNW_004936521:9,793,088...9,834,972 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 chrNW_004936548:3,213,305...3,599,876 JBrowse link
G Spata6l spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004936503:555,168...600,347 JBrowse link
G Ufsp2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004936554:3,926,046...3,945,575 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 chrNW_004936831:680,929...701,804 JBrowse link
G Zfp30 ZFP30 zinc finger protein ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004936801:542,165...559,235 JBrowse link
color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain derived neurotrophic factor susceptibility ISO associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) RGD PMID:21640793 RGD:8655850 NCBI chrNW_004936540:5,530,081...5,582,765 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 chrNW_004936844:101,815...271,254 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 chrNW_004936744:1,499,431...1,537,784 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:mutations
CTD
RGD
PMID:10958649, PMID:30418171 RGD:1600870 NCBI chrNW_004936544:1,166,896...1,305,339 JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12077706 RGD:1599034 NCBI chrNW_004936704:1,079,255...1,093,732 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 chrNW_004936471:31,229,322...31,236,093 JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chrNW_004936477:22,418,037...22,472,251 JBrowse link
G Pde6h phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chrNW_004936587:2,505,755...2,514,103 JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chrNW_004936646:191,136...195,279 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 chrNW_004936502:12,656,187...12,701,689 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 chrNW_004936844:284,938...314,524 JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004936488:4,723,314...4,983,926 JBrowse link
congenital stationary night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar PMID:28492532 NCBI chrNW_004936599:2,295,124...2,299,558 JBrowse link
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO 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 Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
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 chrNW_004936721:1,078,570...1,106,153 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 chrNW_004936844:101,815...271,254 JBrowse link
G Dennd4a DENN domain containing 4A ISO ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive ClinVar NCBI chrNW_004936471:25,914,284...26,022,512 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 chrNW_004936529:1,735,258...1,740,297 JBrowse link
G Gnb3 G protein subunit beta 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936709:970,169...977,059 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 chrNW_004936490:13,801,514...13,818,666 JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30718709 NCBI chrNW_004936472:152,202...165,134 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 chrNW_004936739:1,726,382...1,742,937 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 chrNW_004936563:1,036,079...1,054,778 JBrowse link
G Nyx nyctalopin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital stationary night blindness, X-linked
CTD
ClinVar
NCBI chrNW_004936502:7,890,582...7,909,157 JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:7493036, PMID:30311386 NCBI chrNW_004936504:5,018,171...5,088,333 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 chrNW_004936477:22,418,037...22,472,251 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 chrNW_004936602:896,730...901,480 JBrowse link
G Rp1l1 RP1 like 1 ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:30311386 NCBI chrNW_004936675:2,527,406...2,564,464 JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Congenital stationary night blindness ClinVar PMID:28041643 NCBI chrNW_004936502:5,163,164...5,212,940 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 chrNW_004936844:284,938...314,524 JBrowse link
G Sag S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7670478 NCBI chrNW_004936525:3,932,118...3,965,651 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 chrNW_004936471:25,872,854...25,909,102 JBrowse link
G Trpm1 transient receptor potential cation channel subfamily M member 1 ISO DNA:mutations:exon, intron:multiple (human)
ClinVar Annotator: match by term: Congenital stationary night blindness
ClinVar Annotator: match by term: Congenital Stationary Night Blindness, Recessive
DNA:deletion, missense mutations:cds:multiple (human)
CTD Direct Evidence: marker/mechanism
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 chrNW_004936483:723,784...856,839 JBrowse link
G Trpv3 transient receptor potential cation channel subfamily V member 3 ISO DNA:mutations:multiple (human) RGD PMID:19878917 RGD:7175555 NCBI chrNW_004936677:239,133...270,512 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 chrNW_004936628:2,123,917...2,859,958 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 chrNW_004936502:7,890,582...7,909,157 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 chrNW_004936471:25,914,284...26,022,512 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chrNW_004936490:13,801,514...13,818,666 JBrowse link
G Grm6 glutamate metabotropic receptor 6 ISO OMIM NCBI chrNW_004936739:1,726,382...1,742,937 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 chrNW_004936471:25,872,854...25,909,102 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 chrNW_004936471:25,914,284...26,022,512 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chrNW_004936490:13,801,514...13,818,666 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 chrNW_004936471:25,872,854...25,909,102 JBrowse link
G Trpm1 transient receptor potential cation channel subfamily M member 1 ISO OMIM NCBI chrNW_004936483:723,784...856,839 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 chrNW_004936471:25,914,284...26,022,512 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO ClinVar Annotator: match by term: CSNB, COMPLETE, AUTOSOMAL RECESSIVE ClinVar PMID:30311386 NCBI chrNW_004936490:13,801,514...13,818,666 JBrowse link
G Slc24a1 solute carrier family 24 member 1 ISO OMIM NCBI chrNW_004936471:25,872,854...25,909,102 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 chrNW_004936471:25,914,284...26,022,512 JBrowse link
G Gpr179 G protein-coupled receptor 179 ISO OMIM NCBI chrNW_004936490:13,801,514...13,818,666 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 chrNW_004936471:25,872,854...25,909,102 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 chrNW_004936563:1,036,079...1,054,778 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 chrNW_004936529:1,735,258...1,740,297 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 chrNW_004936709:966,559...969,667 JBrowse link
G Gnb3 G protein subunit beta 3 ISO OMIM NCBI chrNW_004936709:970,169...977,059 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 chrNW_004936595:1,235,747...1,250,294 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 chrNW_004936721:1,078,570...1,106,153 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 chrNW_004936599:2,295,124...2,299,558 JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Congenital stationary night blindness, type 2B ClinVar NCBI chrNW_004936599:2,301,232...2,303,547 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 chrNW_004936602:896,730...901,480 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 chrNW_004936477:22,418,037...22,472,251 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 chrNW_004936529:1,735,258...1,740,297 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 chrNW_004936813:425,613...428,722 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 chrNW_004936654:2,891,019...2,976,465 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 chrNW_004936553:7,157,526...7,943,703 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 chrNW_004936471:31,229,322...31,236,093 JBrowse link
G Nrl neural retina leucine zipper ISO ClinVar Annotator: match by term: Enhanced s-cone syndrome ClinVar PMID:27732723 NCBI chrNW_004936722:448,006...454,064 JBrowse link
G Prph2 peripherin 2 ISO RGD PMID:23650562 RGD:8554862 NCBI chrNW_004936476:17,159,756...17,174,226 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 chrNW_004936844:101,815...271,254 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 chrNW_004936472:152,202...165,134 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 chrNW_004936844:284,938...314,524 JBrowse link
G Sag S-antigen visual arrestin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oguchi's disease
ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, OGUCHI TYPE 1
DNA:deletion:cds:p.N309fsX321 (human)
CTD
ClinVar
RGD
PMID:7670478, PMID:9452120, PMID:9501883, PMID:9565049, PMID:15234147, PMID:15295660, PMID:17200654, PMID:18175313, PMID:20981092, PMID:21447990, PMID:21922265, PMID:21987685, PMID:22419846, PMID:22665972, PMID:22995991, PMID:24265693, PMID:25268133, PMID:25741868, PMID:28492532, PMID:30311386 RGD:734491 NCBI chrNW_004936525:3,932,118...3,965,651 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 chrNW_004936628:2,123,917...2,859,958 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 chrNW_004936720:1,528,205...1,530,296 JBrowse link
G Mbtps2 membrane bound transcription factor peptidase, site 2 ISO OMIM NCBI chrNW_004936624:2,464,152...2,510,984 JBrowse link
night blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1f calcium voltage-gated channel subunit alpha1 F ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:30311386 NCBI chrNW_004936721:1,078,570...1,106,153 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 chrNW_004936844:101,815...271,254 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:20683928, PMID:25741868, PMID:28492532 NCBI chrNW_004936507:5,223,756...5,305,392 JBrowse link
G Chm CHM Rab escort protein ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:25741868 NCBI chrNW_004936547:6,368,941...6,533,199 JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:28041643, PMID:28492532, PMID:30311386 NCBI chrNW_004936531:7,865,907...8,036,020 JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO RGD PMID:8673138 RGD:1599006 NCBI chrNW_004936529:1,735,258...1,740,297 JBrowse link
G Grk1 G protein-coupled receptor kinase 1 ISO DNA:deletions, missense mutation, frameshift mutation RGD PMID:9020843 RGD:1600000 NCBI chrNW_004936472:152,202...165,134 JBrowse link
G Gucy2d guanylate cyclase 2D, retinal ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:30311386 NCBI chrNW_004936595:1,235,747...1,250,294 JBrowse link
G LOC101965031 protocadherin-15 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:11487575, PMID:22981120, PMID:30311386 NCBI chrNW_004936910:233,800...602,145 JBrowse link
G Nrl neural retina leucine zipper ISO CTD Direct Evidence: marker/mechanism CTD PMID:12796249, PMID:15591106 NCBI chrNW_004936722:448,006...454,064 JBrowse link
G Nyx nyctalopin susceptibility ISO Congenital stationary night blindness type1A, OMIM:310500;DNA:mutations RGD PMID:11062471 RGD:1601021 NCBI chrNW_004936502:7,890,582...7,909,157 JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chrNW_004936477:22,418,037...22,472,251 JBrowse link
G Pde6h phosphodiesterase 6H ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:22901948, PMID:27472364, PMID:30311386 NCBI chrNW_004936587:2,505,755...2,514,103 JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:30311386 NCBI chrNW_004936492:3,186,930...3,196,738 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 chrNW_004936646:191,136...195,279 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 chrNW_004936602:896,730...901,480 JBrowse link
G Rlbp1 retinaldehyde binding protein 1 ISO Fundus albipunctatus, OMIM:180090 RGD PMID:11453974 RGD:1599620 NCBI chrNW_004936483:15,086,485...15,097,980 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 chrNW_004936502:12,656,187...12,701,689 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 chrNW_004936591:3,347,346...3,368,062 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 chrNW_004936844:284,938...314,524 JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Nyctalopia ClinVar PMID:30311386 NCBI chrNW_004936492:3,173,770...3,183,423 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 chrNW_004936488:16,258,247...16,306,077 JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Night-blindness ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004936488:4,723,314...4,983,926 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Night-blindness
ClinVar Annotator: match by term: Nyctalopia
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 chrNW_004936628:2,123,917...2,859,958 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 chrNW_004936498:14,657,641...14,666,853 JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO OMIM NCBI chrNW_004936502:10,080,169...10,105,155 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 chrNW_004936498:14,560,730...14,563,195 JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chrNW_004936605:4,265,475...4,338,518 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 chrNW_004936525:3,932,118...3,965,651 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 chrNW_004936472:152,202...165,134 JBrowse link
Photophobia 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: Photophobia ClinVar PMID:21436283, PMID:23804846, PMID:24033266, PMID:24875298, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chrNW_004936521:7,078,874...7,285,361 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 chrNW_004936767:805,910...829,838 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 chrNW_004936744:1,499,431...1,537,784 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 chrNW_004936544:1,166,896...1,305,339 JBrowse link
G Impg2 interphotoreceptor matrix proteoglycan 2 ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:30311386 NCBI chrNW_004936630:1,982,860...2,069,472 JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chrNW_004936477:22,418,037...22,472,251 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 chrNW_004936767:855,811...866,941 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Photophobia ClinVar PMID:22135276, PMID:24033266, PMID:30311386 NCBI chrNW_004936628:2,123,917...2,859,958 JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 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 chrNW_004936521:7,078,874...7,285,361 JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004936521:7,095,044...7,095,497 JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004936531:9,610,335...9,625,203 JBrowse link
G LOC101965031 protocadherin-15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004936910:233,800...602,145 JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 NCBI chrNW_004936498:5,758,572...5,824,526 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 chrNW_004936521:6,975,844...7,009,460 JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004936528:1,552,175...1,594,740 JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004936594:258,115...262,739 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004936628:2,123,917...2,859,958 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 chrNW_004936487:3,668,465...3,748,234 JBrowse link
scotoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:15137946, PMID:21209035, PMID:28492532, PMID:30311386 NCBI chrNW_004936509:25,263...45,113 JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chrNW_004936606:2,011,454...2,118,255 JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chrNW_004936521:7,078,874...7,285,361 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 chrNW_004936509:10,294,247...10,404,743 JBrowse link
G Ift140 intraflagellar transport 140 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chrNW_004936694:2,344,448...2,419,396 JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:30311386 NCBI chrNW_004936474:767,754...795,258 JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Central scotoma ClinVar PMID:25741868, PMID:30311386 NCBI chrNW_004936477:22,418,037...22,472,251 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 chrNW_004936588:2,133,398...2,135,329 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 chrNW_004936502:12,656,187...12,701,689 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 chrNW_004936524:1,219,101...1,229,937 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 chrNW_004936504:12,548,452...12,645,236 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 chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chrNW_004936541:7,664,241...7,782,762 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 chrNW_004936599:3,059,274...3,076,853 JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,113,933...2,138,487 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 chrNW_004936521:7,078,874...7,285,361 JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881, PMID:25741868 NCBI chrNW_004936561:5,283,258...5,331,688 JBrowse link
G CUNH10orf105 chromosome unknown 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 chrNW_004936521:7,095,044...7,095,497 JBrowse link
G CUNH1orf115 chromosome unknown C1orf115 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,575,098...1,586,515 JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:679,650...718,867 JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,145,614...2,219,812 JBrowse link
G Esrrg estrogen related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:1,635,161...2,058,198 JBrowse link
G Gpatch2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:1,006,216...1,181,124 JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732, PMID:28492532, PMID:30718709 NCBI chrNW_004936476:17,690,484...17,701,288 JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chrNW_004936531:9,610,335...9,625,203 JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:10,986...33,985 JBrowse link
G Hlx H2.0 like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,416,825...1,422,595 JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,056,921...2,112,487 JBrowse link
G LOC101965031 protocadherin-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 chrNW_004936910:233,800...602,145 JBrowse link
G LOC101973086 uncharacterized LOC101973086 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:7...6,758 JBrowse link
G LOC101974965 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,506,471...1,543,532 JBrowse link
G Lyplal1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,933,661...2,960,558 JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,607,480...1,672,591 JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,477,138...1,504,501 JBrowse link
G Myo7a myosin VIIA ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome
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 chrNW_004936498:5,758,572...5,824,526 JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chrNW_004936477:11,878,261...12,017,228 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 chrNW_004936521:6,975,844...7,009,460 JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,944,291...2,054,847 JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:408,854...456,464 JBrowse link
G Slc30a10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,252,554...2,267,990 JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:813,437...1,006,000 JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:310,720...394,002 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 chrNW_004936528:1,552,175...1,594,740 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 chrNW_004936628:2,123,917...2,859,958 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 chrNW_004936599:3,047,011...3,054,512 JBrowse link
Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298, PMID:24033266, PMID:28492532 NCBI chrNW_004936469:8,653,031...9,209,840 JBrowse link
G 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 chrNW_004936521:7,078,874...7,285,361 JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:18505454, PMID:23023331 NCBI chrNW_004936471:36,859,018...36,879,170 JBrowse link
G CUNH10orf105 chromosome unknown 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 chrNW_004936521:7,095,044...7,095,497 JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:29572253 NCBI chrNW_004936623:1,220,435...1,249,743 JBrowse link
G LOC101965031 protocadherin-15 ISO ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:16679490, PMID:20672374, PMID:21569298, PMID:22135276, PMID:22183965, PMID:22815625, PMID:23967202, PMID:24033266, PMID:24105371, PMID:24498627, PMID:24618850, PMID:24831256, PMID:25262649, PMID:25307757, PMID:25468891, PMID:25525159, PMID:25741868, PMID:26467025, PMID:27058588, PMID:27208204, PMID:27460420, PMID:27766948, PMID:27861356, PMID:28492532, PMID:30718709 NCBI chrNW_004936910:233,800...602,145 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 chrNW_004936498:5,758,572...5,824,526 JBrowse link
G Otop2 otopetrin 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298 NCBI chrNW_004936594:264,064...271,726 JBrowse link
G Ush1c USH1 protein network component harmonin onset ISO DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
DNA:deletion:exon:c.1220delG(human)
DNA:mutation:cds: c.216G>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 chrNW_004936528:1,552,175...1,594,740 JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher Syndrome Type I
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar PMID:11941484, PMID:12588794, PMID:21569298, PMID:25741868 NCBI chrNW_004936594:258,115...262,739 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 chrNW_004936628:2,123,917...2,859,958 JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101965031 protocadherin-15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chrNW_004936910:233,800...602,145 JBrowse link
G Myo7a myosin VIIA treatment ISO OMIM
RGD
PMID:23991031 RGD:8694151 NCBI chrNW_004936498:5,758,572...5,824,526 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 chrNW_004936528:1,552,175...1,594,740 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 chrNW_004936528:1,552,175...1,594,740 JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO OMIM NCBI chrNW_004936521:7,078,874...7,285,361 JBrowse link
G CUNH10orf105 chromosome unknown 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 chrNW_004936521:7,095,044...7,095,497 JBrowse link
G LOC101965031 protocadherin-15 ISO OMIM NCBI chrNW_004936910:233,800...602,145 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 chrNW_004936521:6,975,844...7,009,460 JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101965031 protocadherin-15 ISO OMIM NCBI chrNW_004936910:233,800...602,145 JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101965031 protocadherin-15 ISO ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar PMID:12711741, PMID:15028842, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chrNW_004936910:233,800...602,145 JBrowse link
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 chrNW_004936594:264,064...271,726 JBrowse link
G Ush1g USH1 protein network component sans ISO OMIM NCBI chrNW_004936594:258,115...262,739 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 NCBI chrNW_004936471:36,859,018...36,879,170 JBrowse link
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO OMIM NCBI chrNW_004936623:1,220,435...1,249,743 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 chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chrNW_004936521:7,078,874...7,285,361 JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chrNW_004936498:5,758,572...5,824,526 JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chrNW_004936528:1,552,175...1,594,740 JBrowse link
G Ush2a usherin susceptibility ISO DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:mutations:multiple (human)
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations: :multiple
DNA:snp:intron:c.7595-2144A>G (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 chrNW_004936628:2,123,917...2,859,958 JBrowse link
Usher syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar NCBI chrNW_004936469:8,653,031...9,209,840 JBrowse link
G 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 chrNW_004936521:7,078,874...7,285,361 JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar PMID:21681106 NCBI chrNW_004936628:2,862,536...2,912,784 JBrowse link
G Pdzd7 PDZ domain containing 7 ISO OMIM NCBI chrNW_004936600:4,660,211...4,678,911 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 chrNW_004936628:2,123,917...2,859,958 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 chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Pdzd7 PDZ domain containing 7 ISO OMIM NCBI chrNW_004936600:4,660,211...4,678,911 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 chrNW_004936487:3,668,465...3,748,234 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 chrNW_004936758:1,250,831...1,286,016 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 chrNW_004936758:1,250,831...1,286,016 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 chrNW_004936531:9,610,335...9,625,203 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 chrNW_004936541:7,664,241...7,782,762 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 chrNW_004936469:8,653,031...9,209,840 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 chrNW_004936521:7,078,874...7,285,361 JBrowse link
G LOC101965031 protocadherin-15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665, PMID:15660226, PMID:24033266 NCBI chrNW_004936910:233,800...602,145 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 chrNW_004936621:1,627,846...1,733,041 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 chrNW_004936483:20,041,712...20,218,853 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 chrNW_004936477:21,460,442...21,531,563 JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: Wolfram syndrome
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9771706, PMID:9817917, PMID:9856492, PMID:10521293, PMID:10679252, PMID:10760554, PMID:11161832, PMID:11244483, PMID:11260218, PMID:11295831, PMID:11317350, PMID:12022290, PMID:12107816, PMID:12754709, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:16151413, PMID:17492394, PMID:17517145, PMID:17568405, PMID:17603484, PMID:18040659, PMID:18414213, PMID:18806274, PMID:19042979, PMID:19344068, PMID:19877185, PMID:20738327, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21446023, PMID:21538838, PMID:21602428, PMID:22226368, PMID:22238590, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23981289, PMID:23990876, PMID:24033266, PMID:24088041, PMID:24705017, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26025012, PMID:26435059, PMID:26467025, PMID:26633545, PMID:26875006, PMID:27185633, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044, PMID:30014265, PMID:30311386 RGD:1599813 NCBI chrNW_004936477:18,339,915...18,364,973 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 chrNW_004936477:18,339,915...18,364,973 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 chrNW_004936520:514,747...527,576 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 chrNW_004936520:405,239...466,280 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11938
    sensory system disease 4559
      eye disease 2345
        Vision Disorders 185
          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 + 10
          Siegler Brewer Carey Syndrome 0
          Spatial Visualization, Aptitude For 0
          Susac Syndrome 0
          amblyopia + 5
          blindness + 88
          enhanced S-cone syndrome 3
          nerve fibre bundle defect 0
          night blindness + 40
          scotoma + 10
Path 2
Term Annotations click to browse term
  disease 11938
    disease of anatomical entity 11499
      nervous system disease 9416
        sensory system disease 4559
          eye disease 2345
            Vision Disorders 185
              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 + 10
              Siegler Brewer Carey Syndrome 0
              Spatial Visualization, Aptitude For 0
              Susac Syndrome 0
              amblyopia + 5
              blindness + 88
              enhanced S-cone syndrome 3
              nerve fibre bundle defect 0
              night blindness + 40
              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.