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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:blindness
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Accession:DOID:1432 term browser browse the term
Definition:The inability to see or the loss or absence of perception of visual stimuli. This condition may be the result of EYE DISEASES; OPTIC NERVE DISEASES; OPTIC CHIASM diseases; or BRAIN DISEASES affecting the VISUAL PATHWAYS or OCCIPITAL LOBE.
Synonyms:exact_synonym: Amaurosis;   Complete Blindness;   Hysterical Blindness;   Legal Blindness;   acquired blindness;   amauroses;   monocular blindness;   transient blindness;   vision impairment;   vision loss
 primary_id: MESH:D001766
 alt_id: RDO:0001207
 xref: ICD10CM:H54;   ICD9CM:369
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP ClinVar Annotator: match by term: Legal blindness
ClinVar Annotator: match by term: Vision loss
ClinVar PMID:9054934, PMID:9466990, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10711710, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11527935, PMID:11702214, PMID:12192456, PMID:12796258, PMID:15579991, PMID:16103129, PMID:16303926, PMID:19074458, PMID:19217903, PMID:21911583, PMID:22264887, PMID:22312191, PMID:22995991, PMID:23755871, PMID:23769331, PMID:23918662, PMID:24033266, PMID:24509150, PMID:24713488, PMID:25087612, PMID:25712131, PMID:25741868, PMID:26103963, PMID:26229699, PMID:26593885, PMID:27014590, PMID:27367509, PMID:27820952, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29114839, PMID:29186038, PMID:29847635, PMID:30311386, PMID:30718709 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 susceptibility IAGP RGD PMID:10873396 RGD:1599003 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
JBrowse link
G AQP4 aquaporin 4 IDA associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator IAGP ClinVar Annotator: match by term: Blindness ClinVar PMID:25558065, PMID:27270415 NCBI chr 1:230,979,082...231,000,733
Ensembl chr 1:230,978,981...231,000,733
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chr 2:215,311,974...215,359,745
Ensembl chr 2:215,311,956...215,349,773
JBrowse link
G CEP290 centrosomal protein 290 IAGP 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 chr12:88,049,013...88,142,216
Ensembl chr12:88,049,016...88,142,099
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CERKL ceramide kinase like IAGP ClinVar Annotator: match by term: Vision loss ClinVar PMID:14681825, PMID:21151602, PMID:22164218, PMID:24043777, PMID:24625443, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:221642182 NCBI chr 2:181,536,672...181,657,105
Ensembl chr 2:181,536,672...181,680,665
JBrowse link
G COL4A3 collagen type IV alpha 3 chain IAGP ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr 2:227,164,589...227,314,792
Ensembl chr 2:227,164,624...227,314,792
Ensembl chr 2:227,164,624...227,314,792
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr 2:55,865,967...55,924,163
Ensembl chr 2:55,865,967...55,924,139
JBrowse link
G LCA5 lebercilin LCA5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chr 6:79,484,991...79,537,430
Ensembl chr 6:79,484,991...79,537,458
JBrowse link
G LRRK2 leucine rich repeat kinase 2 IAGP ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr12:40,224,890...40,369,285
Ensembl chr12:40,196,744...40,369,285
JBrowse link
G MFF-DT MFF divergent transcript IAGP ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr 2:227,221,052...227,325,164
Ensembl chr 2:227,221,052...227,325,711
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: VISION LOSS ClinVar NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: VISION LOSS ClinVar PMID:21520333, PMID:28492532, PMID:30311386 NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724, PMID:16226919 NCBI chr 1:68,428,822...68,450,322
Ensembl chr 1:68,428,822...68,449,954
JBrowse link
G TSPAN12 tetraspanin 12 IAGP ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chr 7:120,787,320...120,858,337
Ensembl chr 7:120,787,320...120,858,402
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Legal blindness ClinVar PMID:15015129, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:18273898, PMID:20513143, PMID:21569298, PMID:24033266, PMID:24498627, PMID:24944099, PMID:25575603, PMID:25741868, PMID:26927203, PMID:27460420, PMID:28492532, PMID:30311386 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:23093773 RGD:11075234 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VSX2 visual system homeobox 2 susceptibility IAGP microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P RGD PMID:10932181 RGD:734779 NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738
JBrowse link
achromatopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:24033266, PMID:28041643 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,320...161,964,070
JBrowse link
G CABP4 calcium binding protein 4 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807, PMID:23714322, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chr11:67,452,403...67,461,774
Ensembl chr11:67,452,406...67,460,313
JBrowse link
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:28492532, PMID:30311386 NCBI chr12:1,791,963...1,922,606
Ensembl chr12:1,791,963...1,918,666
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20079539, PMID:20238023, PMID:20506298, PMID:20549516, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24903488, PMID:25168900, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26992781, PMID:27820752, PMID:28159970, PMID:28341476, PMID:28492532, PMID:28559085, PMID:29053603, PMID:30311386, PMID:30682209 NCBI chr 2:98,346,181...98,399,154
Ensembl chr 2:98,346,188...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967, PMID:1572225, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25558176, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:27479814, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709 NCBI chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,254...109,619,929
JBrowse link
G PDE6C phosphodiesterase 6C IAGP
ISS
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:10393054, PMID:18614542, PMID:19615668, PMID:19887631, PMID:23776498, PMID:25741868, PMID:26103963, PMID:28041643, PMID:28492532, PMID:28704108, PMID:30080950 NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
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 IAGP DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17693388, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24903488, PMID:25616768, PMID:25741868, PMID:25943428, PMID:26992781, PMID:28492532, PMID:30311386, PMID:30682209, PMID:18521937 RGD:9068452 NCBI chr 2:98,346,181...98,399,154
Ensembl chr 2:98,346,188...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 treatment IAGP
ISO
IMP
DNA:deletion: :c.1148delC (human)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25558176, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709, PMID:17265047, PMID:21576125, PMID:21576125 RGD:9068446, RGD:9068450, RGD:9068450 NCBI chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
achromatopsia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP ClinVar Annotator: match by term: Achromatopsia 2
ClinVar Annotator: match by term: Rod monochromacy 2
ClinVar
OMIM
PMID:9662398, PMID:11536077, PMID:14715947, PMID:14757870, PMID:15712225, PMID:15980212, PMID:16961972, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20079539, PMID:20238023, PMID:20549516, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24676353, PMID:24903488, PMID:24906859, PMID:25168900, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26106334, PMID:26407004, PMID:26992781, PMID:28041643, PMID:28159970, PMID:28492532, PMID:29099798, PMID:30289319, PMID:30311386, PMID:30337596, PMID:30682209 NCBI chr 2:98,346,181...98,399,154
Ensembl chr 2:98,346,188...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709 NCBI chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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 IAGP ClinVar Annotator: match by term: Achromatopsia 3
ClinVar Annotator: match by term: Total colorblindness with myopia
ClinVar
OMIM
PMID:1347967, PMID:1572225, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12357335, PMID:12815043, PMID:14757870, PMID:15223812, PMID:15459792, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:19592100, PMID:20079539, PMID:20574029, PMID:22264887, PMID:23776498, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25474149, PMID:25558076, PMID:25558176, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:26992781, PMID:27479814, PMID:27874104, PMID:28005958, PMID:28041643, PMID:28224992, PMID:28492532, PMID:28795510, PMID:29186038, PMID:29769798, PMID:30311386, PMID:30337596, PMID:30718709 NCBI chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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 IAGP ClinVar Annotator: match by term: Achromatopsia 4 ClinVar
OMIM
PMID:12077706, PMID:12205108, PMID:15557429, PMID:21107338, PMID:25741868, PMID:28492532 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,254...109,619,929
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE6C phosphodiesterase 6C IAGP ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19887631, PMID:25741868, PMID:30080950 NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
JBrowse link
achromatopsia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 IAGP ClinVar Annotator: match by term: Achromatopsia 7 ClinVar
OMIM
PMID:24824130, PMID:26029869, PMID:26063662 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,320...161,964,070
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 IDA RGD PMID:15073384 RGD:1582361 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chr19:48,872,392...48,876,062
Ensembl chr19:48,872,421...48,876,058
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 IAGP DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP ClinVar Annotator: match by term: Arts syndrome ClinVar
OMIM
PMID:8498830, PMID:17701896, PMID:22246954, PMID:24033266, PMID:24528855, PMID:25741868, PMID:28492532 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993
Ensembl chr  X:107,628,428...107,651,993
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 IAGP ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar
OMIM
PMID:10679252, PMID:11295831, PMID:12022290, PMID:15605410, PMID:16648378, PMID:17492394, PMID:18544103, PMID:19877185, PMID:20069065, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21538838, PMID:21917145, PMID:22238590, PMID:24033266, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:26467025, PMID:26875006, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044 NCBI chr 4:6,260,368...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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 IAGP ClinVar Annotator: match by term: Tritanopia ClinVar
OMIM
PMID:1386496, PMID:1531728, PMID:2937147, PMID:25605338, PMID:28492532 NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,491...128,775,790
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, long wave sensitive IAGP ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
ClinVar Annotator: match by term: Blue cone monochromacy
ClinVar
OMIM
PMID:1881435, PMID:8666378, PMID:8792812, PMID:15094734 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032
JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Cone dystrophy 5, X-linked
ClinVar Annotator: match by term: Blue cone monochromacy
ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
ClinVar
OMIM
PMID:1302020, PMID:2788922, PMID:8666378, PMID:11772996, PMID:15094734, PMID:19421413, PMID:20579627 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,320...161,964,070
JBrowse link
G BDNF brain derived neurotrophic factor susceptibility IAGP associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) RGD PMID:21640793 RGD:8655850 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP
EXP
ClinVar Annotator: match by term: Color vision defects
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Achromatopsia
ClinVar
CTD
PMID:9662398, PMID:11536077, PMID:14757870, PMID:17693388, PMID:23972307, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30418171, PMID:30682209, PMID:11536077 RGD:734792 NCBI chr 2:98,346,181...98,399,154
Ensembl chr 2:98,346,188...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 susceptibility IAGP
EXP
DNA:mutations
CTD Direct Evidence: marker/mechanism
CTD PMID:30418171, PMID:10958649 RGD:1600870 NCBI chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD PMID:12077706, PMID:12077706 RGD:1599034 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,254...109,619,929
JBrowse link
G NR2E3 nuclear receptor subfamily 2 group E member 3 IAGP 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 chr15:71,810,554...71,818,253
Ensembl chr15:71,792,638...71,818,259
JBrowse link
G PDE6B phosphodiesterase 6B IAGP ClinVar Annotator: match by term: Color vision defects ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chr 4:587,325...670,892
Ensembl chr 4:625,584...670,782
JBrowse link
G PDE6H phosphodiesterase 6H EXP CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865
JBrowse link
G RDH5 retinol dehydrogenase 5 IAGP ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chr12:55,720,393...55,724,705
Ensembl chr12:55,720,367...55,724,705
JBrowse link
G RP2 RP2 activator of ARL3 GTPase IAGP ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10937588, PMID:20669900, PMID:23150612, PMID:24940031, PMID:28209709, PMID:28492532, PMID:30311386 NCBI chr  X:46,837,043...46,882,358
Ensembl chr  X:46,837,043...46,882,358
JBrowse link
G RS1 retinoschisin 1 IAGP ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108
Ensembl chr  X:18,639,688...18,672,108
JBrowse link
G TTLL5 tubulin tyrosine ligase like 5 IAGP ClinVar Annotator: match by term: Color vision defects ClinVar PMID:28492532, PMID:30311386 NCBI chr14:75,661,246...75,955,079
Ensembl chr14:75,633,625...75,955,079
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 IAGP
EXP
DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)
ClinVar
CTD
OMIM
PMID:8841189, PMID:10878669, PMID:11405816, PMID:11601506, PMID:11803487, PMID:15037720, PMID:15710860, PMID:16411215, PMID:17851739, PMID:17936919, PMID:24033266, PMID:15710860, PMID:17471106, PMID:11601506 RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742
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 ISS
IAGP
OMIM:310600
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
MouseDO
ClinVar
PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria
ClinVar Annotator: match by term: Norrie Disease
ClinVar
OMIM
PMID:1303264, PMID:1307245, PMID:7814011, PMID:8069314, PMID:8240113, PMID:8268931, PMID:8790105, PMID:8990009, PMID:9143918, PMID:9382152, PMID:10484772, PMID:15776010, PMID:17334993, PMID:22563645, PMID:30311386 NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395
JBrowse link
G NDP-AS1 NDP antisense RNA 1 IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria
ClinVar Annotator: match by term: Norrie Disease
ClinVar PMID:1303264, PMID:1307245, PMID:7814011, PMID:8069314, PMID:8240113, PMID:8268931, PMID:8990009, PMID:9143918, PMID:9382152, PMID:10484772, PMID:15776010, PMID:17334993, PMID:22563645, PMID:30311386 NCBI chr  X:43,949,732...43,971,552
Ensembl chr  X:43,949,732...43,971,582
JBrowse link
G PRSS23 serine protease 23 IAGP 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 chr11:86,791,071...86,952,910
Ensembl chr11:86,791,059...86,952,910
JBrowse link
G TSPAN12 tetraspanin 12 IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr 7:120,787,320...120,858,337
Ensembl chr 7:120,787,320...120,858,402
JBrowse link
red color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, long wave sensitive IAGP ClinVar Annotator: match by term: Protan defect OMIM
ClinVar
PMID:12051694 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032
JBrowse link
red-green color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Colorblindness, partial, deutan series
ClinVar Annotator: match by term: DEUTERANOPIA
ClinVar
OMIM
PMID:1302020, PMID:2788922, PMID:8666378, PMID:11772996, PMID:12051694, PMID:12626747, PMID:15094734, PMID:19421413 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507, PMID:16963483, PMID:18429043, PMID:19683999, PMID:21174530, PMID:21228398, PMID:21569298, PMID:22135276, PMID:22995991, PMID:24033266, PMID:25474345, PMID:25741868, PMID:26969326, PMID:27018795, PMID:28492532, PMID:30029624, PMID:30718709 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP ClinVar Annotator: match by term: Rp21 ClinVar PMID:9792552, PMID:10090882 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265
JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 NCBI chr11:77,128,192...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:53,802,771...55,629,182
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,325
JBrowse link
G USH1C USH1 protein network component harmonin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr11:17,493,895...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 1:216,193,337...216,238,036 JBrowse link
G VSIR V-set immunoregulatory receptor IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520
JBrowse link
G WHRN whirlin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30245029 NCBI chr 9:114,402,078...114,505,500
Ensembl chr 9:114,402,080...114,505,473
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 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar
OMIM
PMID:24781755, PMID:25558065, PMID:25741868, PMID:26463574 NCBI chr 5:141,515,016...141,619,055
Ensembl chr 5:141,515,016...141,619,055
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 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:14740321, PMID:15671307, PMID:24033266, PMID:24154662, PMID:25133751, PMID:25404053, PMID:25741868, PMID:26164827, PMID:26467025, PMID:27068579, PMID:27575413, PMID:28041643, PMID:28492532, PMID:29099798 NCBI chr 5:90,558,796...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
JBrowse link
G ARSG arylsulfatase G IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP 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 chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,057,482...220,089,916
Ensembl chr 1:220,057,482...220,090,462
JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12075507, PMID:15537665, PMID:18273900, PMID:21228398, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
JBrowse link
G C1orf115 chromosome 1 open reading frame 115 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,690,363...220,699,153
Ensembl chr 1:220,690,363...220,699,153
JBrowse link
G CDH23 cadherin related 23 TAS
IAGP
ClinVar Annotator: match by term: Hallgren syndrome
ClinVar Annotator: match by term: Usher syndrome
ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:16963483, PMID:17850630, PMID:18273900, PMID:18429043, PMID:19683999, PMID:21174530, PMID:21228398, PMID:21569298, PMID:22135276, PMID:22899989, PMID:22995991, PMID:24033266, PMID:25333064, PMID:25356970, PMID:25474345, PMID:25587757, PMID:25741868, PMID:26467025, PMID:26681316, PMID:26969326, PMID:27018795, PMID:28492532, PMID:28501645, PMID:30029624, PMID:30718709, PMID:20212494 RGD:8547536 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
JBrowse link
G CEP250 centrosomal protein 250 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881, PMID:25741868 NCBI chr20:35,455,137...35,519,280
Ensembl chr20:35,455,164...35,519,280
JBrowse link
G CLRN1 clarin 1 TAS RGD PMID:23701314 RGD:8547535 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,999
JBrowse link
G DUSP10 dual specificity phosphatase 10 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,701,424...221,742,091
Ensembl chr 1:221,701,424...221,742,089
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530
JBrowse link
G ESRRG estrogen related receptor gamma IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:216,503,246...217,137,702
Ensembl chr 1:216,503,246...217,137,755
JBrowse link
G GPATCH2 G-patch domain containing 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,426,992...217,631,090
Ensembl chr 1:217,426,992...217,631,090
JBrowse link
G GUCA1A guanylate cyclase activator 1A IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732, PMID:28492532, PMID:30718709 NCBI chr 6:42,173,364...42,180,056
Ensembl chr 6:42,155,406...42,180,049
Ensembl chr 6:42,155,406...42,180,049
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G HHIPL2 HHIP like 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,501,521...222,548,104
Ensembl chr 1:222,522,258...222,548,104
JBrowse link
G HLX H2.0 like homeobox IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,879,443...220,885,059
Ensembl chr 1:220,879,431...220,885,059
JBrowse link
G HLX-AS1 HLX antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,832,763...220,880,140
Ensembl chr 1:220,832,763...220,880,140
JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041
JBrowse link
G LINC00210 long intergenic non-protein coding RNA 210 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,892,900...217,920,804
Ensembl chr 1:217,892,900...217,920,804
JBrowse link
G LINC01352 long intergenic non-protein coding RNA 1352 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,829,255...220,832,429
Ensembl chr 1:220,829,255...220,832,429
JBrowse link
G LINC01653 long intergenic non-protein coding RNA 1653 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,043,505...218,059,140
Ensembl chr 1:218,043,505...218,059,140
JBrowse link
G LINC01655 long intergenic non-protein coding RNA 1655 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,827,666...221,840,666
Ensembl chr 1:221,819,842...221,840,717
JBrowse link
G LINC01710 long intergenic non-protein coding RNA 1710 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,912,757...218,918,511
Ensembl chr 1:218,912,757...218,918,714
JBrowse link
G LINC02257 long intergenic non-protein coding RNA 2257 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,913,645...221,978,520
Ensembl chr 1:221,880,981...221,978,523
JBrowse link
G LINC02474 long intergenic non-protein coding RNA 2474 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,966,410...221,984,964
Ensembl chr 1:221,966,341...221,984,964
JBrowse link
G LINC02779 long intergenic non-protein coding RNA 2779 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,483,165...220,487,618
Ensembl chr 1:220,485,104...220,487,558
JBrowse link
G LINC02817 long intergenic non-protein coding RNA 2817 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,329,928...221,336,296
Ensembl chr 1:221,330,080...221,336,489
JBrowse link
G LINC02869 long intergenic non-protein coding RNA 2869 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,510,095...218,525,978
Ensembl chr 1:218,459,265...218,525,978
JBrowse link
G LYPLAL1 lysophospholipase like 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,173,850...219,445,121
Ensembl chr 1:219,173,869...219,212,865
JBrowse link
G LYPLAL1-AS1 LYPLAL1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,435,158...219,557,324
Ensembl chr 1:219,409,039...219,459,369
JBrowse link
G LYPLAL1-DT LYPLAL1 divergent transcript IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,080,973...219,173,788
Ensembl chr 1:218,983,023...219,173,961
JBrowse link
G MARK1 microtubule affinity regulating kinase 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,528,136...220,664,461
Ensembl chr 1:220,528,183...220,664,461
Ensembl chr 1:220,528,183...220,664,461
JBrowse link
G MIR194-1 microRNA 194-1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,118,157...220,118,241
Ensembl chr 1:220,118,157...220,118,241
JBrowse link
G MIR215 microRNA 215 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,117,853...220,117,962
Ensembl chr 1:220,117,853...220,117,962
JBrowse link
G MIR548F1 microRNA 548f-1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:54,607,874...54,607,957
Ensembl chr10:54,607,874...54,607,957
JBrowse link
G MIR664A microRNA 664a IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,200,538...220,200,619
Ensembl chr 1:220,200,538...220,200,619
JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,786,697...220,819,659
Ensembl chr 1:220,786,913...220,819,659
JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,747,417...220,784,815
Ensembl chr 1:220,748,225...220,784,815
JBrowse link
G MYO7A myosin VIIA TAS
IAGP
EXP
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Hallgren syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3130723, PMID:7568224, PMID:7870171, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10425080, PMID:10447383, PMID:10930322, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15221449, PMID:15660226, PMID:15823922, PMID:15965244, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22690115, PMID:22898263, PMID:23208854, PMID:23237960, PMID:23451239, PMID:23591405, PMID:23770805, PMID:24033266, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24831256, PMID:24875298, PMID:25080338, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25472526, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26309859, PMID:26338283, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27208204, PMID:27344577, PMID:27460420, PMID:27583663, PMID:27610647, PMID:27743452, PMID:27957503, PMID:28000701, PMID:28041643, PMID:28439001, PMID:28472130, PMID:28492532, PMID:28944237, PMID:29142287, PMID:29196752, PMID:29490346, PMID:30245029, PMID:30303587, PMID:30311386, PMID:30459346, PMID:30718709, PMID:31479088, PMID:20212494 RGD:8547536 NCBI chr11:77,128,192...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G PCDH15 protocadherin related 15 TAS
IAGP
EXP
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:19309154, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28041643, PMID:28281779, PMID:28492532, PMID:20212494 RGD:8547536 NCBI chr10:53,802,771...55,629,182
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G PROM1 prominin 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 4:15,968,226...16,084,059
Ensembl chr 4:15,963,076...16,084,378
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Hallgren syndrome
ClinVar Annotator: match by term: Usher syndrome
ClinVar PMID:18429043, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,325
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,453
JBrowse link
G RRP15 ribosomal RNA processing 15 homolog IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,285,293...218,337,983
Ensembl chr 1:218,285,293...218,337,983
JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,910,395...219,959,098
Ensembl chr 1:219,685,427...219,958,647
JBrowse link
G SNORA36B small nucleolar RNA, H/ACA box 36B IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,200,546...220,200,676
Ensembl chr 1:220,200,546...220,200,676
JBrowse link
G SPATA17 spermatogenesis associated 17 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,631,333...217,871,696
Ensembl chr 1:217,631,324...217,871,696
JBrowse link
G SPATA17-AS1 SPATA17 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,781,198...217,785,120
Ensembl chr 1:217,781,198...217,785,120
JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,557,902...222,590,096
Ensembl chr 1:222,557,902...222,589,933
JBrowse link
G TAF1A-AS1 TAF1A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,589,920...222,592,633
Ensembl chr 1:222,589,825...222,593,843
JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGFB2-AS1 TGFB2 antisense RNA 1 (head to head) IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,344,196...218,345,678
Ensembl chr 1:218,344,196...218,345,678
JBrowse link
G TGFB2-OT1 TGFB2 overlapping transcript 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,442,626...218,443,995
Ensembl chr 1:218,442,626...218,443,996
JBrowse link
G TRT-TGT2-1 tRNA-Thr (anticodon TGT) 2-1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,465,005...222,465,077 JBrowse link
G USH1C USH1 protein network component harmonin treatment TAS
IAGP
IMP
ISO
ClinVar Annotator: match by term: Usher syndrome
DNA:mutations:cds:
ClinVar PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:21436283, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30718709, PMID:20212494, PMID:23380860, PMID:20095043, PMID:14519688, PMID:11139240 RGD:8547536, RGD:8695937, RGD:8695939, RGD:8694458, RGD:8694457 NCBI chr11:17,493,895...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
G USH1G USH1 protein network component sans TAS RGD PMID:20212494 RGD:8547536 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
JBrowse link
G USH2A usherin susceptibility TAS
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome
DNA:snps, insertion:exon, intron:multiple (human)
ClinVar PMID:1968399, PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12427073, PMID:12525556, PMID:14970843, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:15326663, PMID:15823922, PMID:16098008, PMID:16114888, PMID:16963483, PMID:17085681, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18463160, PMID:18641288, PMID:18665195, PMID:19023448, PMID:19129697, PMID:19683999, PMID:19737284, PMID:19881469, PMID:20052763, PMID:20145675, PMID:20301515, PMID:20507924, PMID:20591486, PMID:20596040, PMID:21151602, PMID:21174530, PMID:21234346, PMID:21569298, PMID:21686329, PMID:21738395, PMID:22004887, PMID:22009552, PMID:22135276, PMID:22334370, PMID:22495311, PMID:22581970, PMID:22681893, PMID:22952768, PMID:23352160, PMID:23591405, PMID:23737954, PMID:23804846, PMID:23924366, PMID:23940504, PMID:23991284, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24265693, PMID:24498627, PMID:24516651, PMID:24607488, PMID:24625443, PMID:24853665, PMID:24944099, PMID:25078356, PMID:25097241, PMID:25133613, PMID:25133751, PMID:25261458, PMID:25262649, PMID:25324289, PMID:25326637, PMID:25333064, PMID:25356976, PMID:25375654, PMID:25404053, PMID:25412400, PMID:25425308, PMID:25472526, PMID:25521520, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868, PMID:25823529, PMID:25910913, PMID:25991456, PMID:25999674, PMID:26310143, PMID:26338283, PMID:26633545, PMID:26667666, PMID:26764160, PMID:26766544, PMID:26806561, PMID:26872967, PMID:26927203, PMID:26969326, PMID:27157150, PMID:27160483, PMID:27208204, PMID:27318125, PMID:27460420, PMID:27596865, PMID:27624628, PMID:27957503, PMID:28041643, PMID:28130426, PMID:28157192, PMID:28492532, PMID:28512305, PMID:28559085, PMID:28653555, PMID:28894305, PMID:28944237, PMID:28981474, PMID:29074561, PMID:29142287, PMID:29196752, PMID:29293505, PMID:29343940, PMID:29490346, PMID:29625443, PMID:29767709, PMID:29912909, PMID:29953849, PMID:30190494, PMID:30245029, PMID:30311386, PMID:30337596, PMID:30543658, PMID:30718709, PMID:31877679, PMID:23701314, PMID:18452394 RGD:8547535, RGD:8547956 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:15325563, PMID:18641288, PMID:19881469, PMID:21569298, PMID:21738395, PMID:22135276, PMID:23924366, PMID:24033266, PMID:25472526, PMID:25741868, PMID:25991456, PMID:27208204, PMID:27460420, PMID:27624628, PMID:27957503, PMID:28041643, PMID:28492532, PMID:28512305, PMID:30718709 NCBI chr 1:216,193,337...216,238,036 JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:10729113, PMID:10909849, PMID:18641288, PMID:20507924, PMID:22135276, PMID:23737954, PMID:24033266, PMID:25356976, PMID:25525159, PMID:25649381, PMID:26310143, PMID:26338283, PMID:26667666, PMID:28041643, PMID:28492532, PMID:28944237, PMID:29625443 NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917
JBrowse link
G ZC3H11B zinc finger CCCH-type containing 11B IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,608,012...219,613,145
Ensembl chr 1:219,608,010...219,613,145
JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 IAGP 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 chr11:66,520,625...66,546,184
Ensembl chr11:66,520,637...66,546,235
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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298, PMID:24033266, PMID:28492532 NCBI chr 5:90,558,796...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:24033266, PMID:25741868 NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12075507, PMID:15537665, PMID:18273900, PMID:21228398, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:16679490, PMID:16963483, PMID:18273900, PMID:19683999, PMID:20613545, PMID:21228398, PMID:21569298, PMID:21738395, PMID:24033266, PMID:25468891, PMID:25741868, PMID:25788563, PMID:26467025, PMID:28492532 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:12075507, PMID:15537665 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
JBrowse link
G CIB2 calcium and integrin binding family member 2 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:18505454, PMID:23023331 NCBI chr15:78,104,606...78,131,976
Ensembl chr15:78,104,606...78,131,535
JBrowse link
G ESPN espin IAGP ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:29572253 NCBI chr 1:6,424,776...6,461,367
Ensembl chr 1:6,424,776...6,461,367
JBrowse link
G MYO7A myosin VIIA IAGP
ISS
IEA
DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
OMIM:276900
ClinVar
MouseDO
PMID:3130723, PMID:7568224, PMID:7870171, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10364543, PMID:10425080, PMID:10447383, PMID:10930322, PMID:12080385, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15121790, PMID:15221449, PMID:15606003, PMID:15660226, PMID:15823922, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:17960123, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20613545, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22690115, PMID:22785243, PMID:22898263, PMID:23226338, PMID:23237960, PMID:23451214, PMID:23451239, PMID:23591405, PMID:23770805, PMID:23804846, PMID:23882135, PMID:24033266, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24498627, PMID:24618850, PMID:24831256, PMID:24875298, PMID:25080338, PMID:25262649, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27208204, PMID:27344577, PMID:27440999, PMID:27460420, PMID:27583663, PMID:27610647, PMID:27743452, PMID:27766948, PMID:27957503, PMID:28008688, PMID:28041643, PMID:28472130, PMID:28492532, PMID:28944237, PMID:29142287, PMID:29490346, PMID:30245029, PMID:30311386, PMID:30459346, PMID:30718709, PMID:31479088, PMID:15592175 RGD:8694152 NCBI chr11:77,128,192...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G OTOP2 otopetrin 2 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298 NCBI chr17:74,922,955...74,933,913
Ensembl chr17:74,922,950...74,933,912
Ensembl chr17:74,922,950...74,933,912
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:16679490, PMID:20672374, PMID:21569298, PMID:22135276, PMID:22183965, PMID:22815625, PMID:23967202, PMID:24033266, PMID:24105371, PMID:24498627, PMID:24618850, PMID:24831256, PMID:25262649, PMID:25307757, PMID:25468891, PMID:25525159, PMID:25741868, PMID:26467025, PMID:27058588, PMID:27208204, PMID:27460420, PMID:27766948, PMID:27861356, PMID:28492532, PMID:30718709 NCBI chr10:53,802,771...55,629,182
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G USH1C USH1 protein network component harmonin onset IAGP
IEA
DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
OMIM:276900
DNA:mutation:cds: c.216G>A(human)
DNA:deletion:exon:c.1220delG(human)
ClinVar
MouseDO
PMID:9760205, PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:24498627, PMID:25356976, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30718709, PMID:21487335, PMID:17407589, PMID:23251578 RGD:8695918, RGD:8695921, RGD:8695919 NCBI chr11:17,493,895...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher Syndrome Type I
ClinVar PMID:11941484, PMID:12588794, PMID:21569298, PMID:25741868 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:21569298, PMID:24033266, PMID:26667666, PMID:28041643, PMID:28492532 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298, PMID:24033266, PMID:28041643, PMID:28492532 NCBI chr 1:216,193,337...216,238,036 JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA treatment IAGP
ISO
IDA
DNA:mutations: :multiple
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome, type 1B
DNA:nonsense mutation
ClinVar
OMIM
PMID:3130723, PMID:7568224, PMID:7870171, PMID:7951250, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:9843659, PMID:10094549, PMID:10425080, PMID:10447383, PMID:10930322, PMID:11391666, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15221449, PMID:15660226, PMID:15823922, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22690115, PMID:22898263, PMID:23237960, PMID:23451239, PMID:23591405, PMID:23770805, PMID:24033266, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24875298, PMID:25080338, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27208204, PMID:27460420, PMID:27583663, PMID:27610647, PMID:27743452, PMID:27957503, PMID:28041643, PMID:28472130, PMID:28492532, PMID:28944237, PMID:29142287, PMID:29490346, PMID:30245029, PMID:30311386, PMID:30459346, PMID:30718709, PMID:8900236, PMID:12112664, PMID:23991031, PMID:23991031, PMID:15965244 RGD:8694135, RGD:8694137, RGD:8694151, RGD:8694151, RGD:1581470 NCBI chr11:77,128,192...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chr10:53,802,771...55,629,182
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G USH1C USH1 protein network component harmonin EXP
IAGP
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 chr11:17,493,895...17,544,416
Ensembl chr11:17,493,895...17,544,416
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 IAGP
EXP
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)
ClinVar Annotator: match by term: Usher syndrome, type 1C
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9760205, PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:20146813, PMID:20301442, PMID:20671281, PMID:21203349, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:22581970, PMID:23251578, PMID:23380860, PMID:23967202, PMID:24033266, PMID:24154662, PMID:24416283, PMID:24498627, PMID:24618850, PMID:25262649, PMID:25333064, PMID:25356976, PMID:25468891, PMID:25525159, PMID:25560255, PMID:25741868, PMID:25788563, PMID:26445815, PMID:26467025, PMID:26944241, PMID:26969326, PMID:27208204, PMID:27440999, PMID:27460420, PMID:27743452, PMID:27957503, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30245029, PMID:30718709, PMID:10973247 RGD:1600453 NCBI chr11:17,493,895...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP 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 chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
JBrowse link
G CDH23 cadherin related 23 ISO
IAGP
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar
OMIM
PMID:2289998, PMID:2706105, PMID:11090341, PMID:11138009, PMID:11857743, PMID:12075507, PMID:12522556, PMID:15353998, PMID:15537665, PMID:15660226, PMID:16679490, PMID:17407589, PMID:17850630, PMID:18273900, PMID:18323324, PMID:18348277, PMID:18429043, PMID:19375528, PMID:19683999, PMID:20146813, PMID:20513143, PMID:20613545, PMID:20844544, PMID:21228398, PMID:21436283, PMID:21569298, PMID:21940737, PMID:22135276, PMID:22443853, PMID:22607986, PMID:22899989, PMID:22995991, PMID:23451239, PMID:23591405, PMID:23757202, PMID:23804846, PMID:23967202, PMID:24033266, PMID:24416283, PMID:24498627, PMID:24618850, PMID:24767429, PMID:24875298, PMID:25262649, PMID:25279224, PMID:25333064, PMID:25356970, PMID:25404053, PMID:25468891, PMID:25472526, PMID:25474345, PMID:25587757, PMID:25741868, PMID:25788563, PMID:25963016, PMID:25991456, PMID:26264712, PMID:26467025, PMID:26633542, PMID:26763877, PMID:26969326, PMID:27068579, PMID:27460420, PMID:27583405, PMID:27743452, PMID:27792758, PMID:27884173, PMID:28492532, PMID:28912962, PMID:30029624, PMID:30123251, PMID:30245029, PMID:30311386, PMID:30718709, PMID:30774966, PMID:11138008 RGD:8662279 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar PMID:12075507, PMID:15537665, PMID:24033266, PMID:24416283, PMID:25741868, PMID:28492532, PMID:30718709 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar
OMIM
PMID:12711741, PMID:14570705, PMID:15028842, PMID:16679490, PMID:18484607, PMID:18719945, PMID:19375528, PMID:21436283, PMID:21569298, PMID:22815625, PMID:24033266, PMID:24105371, PMID:24618850, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:26872967, PMID:27460420, PMID:28492532 NCBI chr10:53,802,771...55,629,182
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,325
JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1F ClinVar PMID:26166082 NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1F
ClinVar Annotator: match by term: Usher syndrome type 1F
ClinVar
OMIM
PMID:11398101, PMID:11487575, PMID:12711741, PMID:14570705, PMID:15028842, PMID:15537665, PMID:15660226, PMID:16679490, PMID:16963483, PMID:18484607, PMID:18719945, PMID:19375528, PMID:19683999, PMID:21436283, PMID:21569298, PMID:22135276, PMID:22815625, PMID:22952768, PMID:22981120, PMID:23451239, PMID:23462753, PMID:23591405, PMID:23767834, PMID:23967202, PMID:24033266, PMID:24105371, PMID:24498627, PMID:24618850, PMID:24705292, PMID:24831256, PMID:24853665, PMID:24940003, PMID:25262649, PMID:25307757, PMID:25404053, PMID:25425308, PMID:25525159, PMID:25575603, PMID:25741868, PMID:25999675, PMID:26166082, PMID:26346818, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27058588, PMID:27068579, PMID:27208204, PMID:27440999, PMID:27460420, PMID:27610647, PMID:27743452, PMID:27766948, PMID:28000701, PMID:28281779, PMID:28492532, PMID:28900111, PMID:28968992, PMID:30311386, PMID:30459346 NCBI chr10:53,802,771...55,629,182
Ensembl chr10:53,802,771...55,627,942
JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOP2 otopetrin 2 IAGP 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 chr17:74,922,955...74,933,913
Ensembl chr17:74,922,950...74,933,912
Ensembl chr17:74,922,950...74,933,912
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar PMID:12711741, PMID:15028842, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chr10:53,802,771...55,629,182
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Usher syndrome, type 1G
ClinVar Annotator: match by term: USH1G-Related Disorders
OMIM
ClinVar
PMID:11941484, PMID:12588794, PMID:15660226, PMID:17896313, PMID:21044053, PMID:22135276, PMID:23591405, PMID:24033266, PMID:25255398, PMID:25741868, PMID:26467025, PMID:26878454, PMID:27068579, PMID:27353947, PMID:28224992, PMID:28492532 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
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 IAGP
EXP
ClinVar Annotator: match by term: Usher syndrome, type 1J
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:18505454, PMID:23023331 NCBI chr15:78,104,606...78,131,976
Ensembl chr15:78,104,606...78,131,535
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 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE 1M OMIM
ClinVar
PMID:29572253 NCBI chr 1:6,424,776...6,461,367
Ensembl chr 1:6,424,776...6,461,367
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 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:19357117, PMID:22135276, PMID:22147658, PMID:24033266, PMID:24123792, PMID:25741868, PMID:28492532 NCBI chr 5:90,558,796...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr11:77,128,192...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G USH1C USH1 protein network component harmonin IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr11:17,493,895...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
G USH2A usherin susceptibility IAGP DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:mutations: :multiple
DNA:snp:intron:c.7595-2144A>G (human)
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human)
ClinVar PMID:10729113, PMID:10738000, PMID:10775529, PMID:10909849, PMID:11311042, PMID:12525556, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18452394, PMID:18463160, PMID:18641288, PMID:18665195, PMID:19683999, PMID:19881469, PMID:20052763, PMID:20145675, PMID:20507924, PMID:20513143, PMID:21174530, PMID:21234346, PMID:21569298, PMID:21686329, PMID:22004887, PMID:22009552, PMID:22135276, PMID:22495311, PMID:23352160, PMID:23591405, PMID:23924366, PMID:24033266, PMID:24160897, PMID:24498627, PMID:24938718, PMID:24944099, PMID:25078356, PMID:25097241, PMID:25211151, PMID:25262649, PMID:25324289, PMID:25333064, PMID:25356976, PMID:25404053, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868, PMID:26310143, PMID:26338283, PMID:26927203, PMID:27032803, PMID:27160483, PMID:27318125, PMID:27344577, PMID:27460420, PMID:28041643, PMID:28130426, PMID:28492532, PMID:28653555, PMID:28894305, PMID:28944237, PMID:28981474, PMID:29142287, PMID:29293505, PMID:29490346, PMID:29625443, PMID:29899460, PMID:30245029, PMID:30311386, PMID:30718709, PMID:30948794, PMID:15025721, PMID:12112664, PMID:22009552, PMID:18665195, PMID:17405132 RGD:8547952, RGD:8694137, RGD:8547985, RGD:8547965, RGD:8547962 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:216,193,337...216,238,036 JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:18273898, PMID:18641288, PMID:19683999, PMID:23591405, PMID:24033266, PMID:24944099, PMID:25097241, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868 NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917
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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar NCBI chr 5:90,558,796...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA ClinVar PMID:2706105, PMID:12075507, PMID:12522556, PMID:15353998, PMID:21940737, PMID:24033266, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar PMID:21681106 NCBI chr 1:215,567,304...215,621,807
Ensembl chr 1:215,567,304...215,621,807
JBrowse link
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2A OMIM
ClinVar
PMID:20440071, PMID:25741868, PMID:28492532, PMID:29048736 NCBI chr10:101,007,679...101,031,145
Ensembl chr10:101,007,679...101,032,295
JBrowse link
G USH2A usherin susceptibility IAGP
EXP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Usher syndrome, type 2A
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
ClinVar
CTD
OMIM
PMID:1968399, PMID:9624053, PMID:10090909, PMID:10729113, PMID:10738000, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12427073, PMID:12525556, PMID:12786748, PMID:14676276, PMID:14970843, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:15326663, PMID:15671307, PMID:15823922, PMID:16098008, PMID:16114888, PMID:16963483, PMID:17085681, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18281613, PMID:18452394, PMID:18463160, PMID:18484607, PMID:18641288, PMID:18665192, PMID:18665195, PMID:19023448, PMID:19129697, PMID:19683999, PMID:19737284, PMID:19788668, PMID:19881469, PMID:20052763, PMID:20145675, PMID:20301515, PMID:20309401, PMID:20440071, PMID:20497194, PMID:20507924, PMID:20513143, PMID:20591486, PMID:20596040, PMID:20613545, PMID:20801516, PMID:21147909, PMID:21151602, PMID:21174530, PMID:21228398, PMID:21234346, PMID:21569298, PMID:21593743, PMID:21681106, PMID:21686329, PMID:21738395, PMID:21909055, PMID:22004887, PMID:22009552, PMID:22135276, PMID:22334370, PMID:22495311, PMID:22563300, PMID:22581970, PMID:22681893, PMID:22952768, PMID:23352160, PMID:23591405, PMID:23661368, PMID:23737954, PMID:23755871, PMID:23767834, PMID:23804846, PMID:23924366, PMID:23940504, PMID:23967202, PMID:23991284, PMID:24033266, PMID:24043777, PMID:24088041, PMID:24154662, PMID:24160897, PMID:24164807, PMID:24265693, PMID:24498627, PMID:24516651, PMID:24603341, PMID:24607488, PMID:24625443, PMID:24853665, PMID:24875298, PMID:24901346, PMID:24938718, PMID:24944099, PMID:25078356, PMID:25097241, PMID:25133613, PMID:25133751, PMID:25211151, PMID:25252889, PMID:25261458, PMID:25262649, PMID:25268133, PMID:25324289, PMID:25326637, PMID:25333064, PMID:25356976, PMID:25366773, PMID:25373420, PMID:25375654, PMID:25388789, PMID:25404053, PMID:25412400, PMID:25425308, PMID:25445212, PMID:25468891, PMID:25472526, PMID:25474345, PMID:25521520, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868, PMID:25804404, PMID:25823529, PMID:25910913, PMID:25991456, PMID:25999674, PMID:26075083, PMID:26164827, PMID:26310143, PMID:26338283, PMID:26346818, PMID:26352687, PMID:26377068, PMID:26416264, PMID:26467025, PMID:26496393, PMID:26633545, PMID:26654877, PMID:26667666, PMID:26747767, PMID:26764160, PMID:26766544, PMID:26806561, PMID:26856745, PMID:26872967, PMID:26927203, PMID:26969326, PMID:26992781, PMID:27032803, PMID:27057829, PMID:27145477, PMID:27157150, PMID:27160483, PMID:27208204, PMID:27318125, PMID:27344577, PMID:27353947, PMID:27460420, PMID:27583663, PMID:27596865, PMID:27624628, PMID:27957503, PMID:28000701, PMID:28005958, PMID:28041643, PMID:28127548, PMID:28157192, PMID:28181551, PMID:28224992, PMID:28281779, PMID:28492532, PMID:28512305, PMID:28559085, PMID:28653555, PMID:28761320, PMID:28838317, PMID:28894305, PMID:28944237, PMID:28981474, PMID:28984810, PMID:29074561, PMID:29142287, PMID:29196752, PMID:29293505, PMID:29343940, PMID:29490346, PMID:29551606, PMID:29588463, PMID:29625443, PMID:29641573, PMID:29767709, PMID:29899460, PMID:29912909, PMID:29953849, PMID:29986705, PMID:30029497, PMID:30190494, PMID:30245029, PMID:30280194, PMID:30311386, PMID:30459346, PMID:30543658, PMID:30718709, PMID:30948794, PMID:31877679, PMID:10729113, PMID:9624053 RGD:8547961, RGD:8547987 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar PMID:9624053, PMID:10729113, PMID:10909849, PMID:11311042, PMID:15241801, PMID:15325563, PMID:15823922, PMID:16963483, PMID:18641288, PMID:19683999, PMID:19737284, PMID:19881469, PMID:20507924, PMID:20591486, PMID:20613545, PMID:21147909, PMID:21569298, PMID:21738395, PMID:22004887, PMID:22009552, PMID:22135276, PMID:22952768, PMID:23591405, PMID:23924366, PMID:23967202, PMID:24033266, PMID:24154662, PMID:24160897, PMID:24265693, PMID:24944099, PMID:25078356, PMID:25468891, PMID:25472526, PMID:25525159, PMID:25649381, PMID:25741868, PMID:25804404, PMID:25991456, PMID:26075083, PMID:26467025, PMID:26856745, PMID:26927203, PMID:26969326, PMID:27208204, PMID:27318125, PMID:27460420, PMID:27624628, PMID:27957503, PMID:28041643, PMID:28492532, PMID:28512305, PMID:30718709 NCBI chr 1:216,193,337...216,238,036 JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar PMID:10729113, PMID:10909849, PMID:18273898, PMID:18641288, PMID:19683999, PMID:20507924, PMID:22004887, PMID:22135276, PMID:22334370, PMID:23591405, PMID:23737954, PMID:24033266, PMID:24938718, PMID:24944099, PMID:25097241, PMID:25356976, PMID:25388789, PMID:25404053, PMID:25412400, PMID:25425308, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868, PMID:26310143, PMID:26338283, PMID:26667666, PMID:26747767, PMID:26927203, PMID:26969326, PMID:27318125, PMID:27460420, PMID:27957503, PMID:28000701, PMID:28041643, PMID:28224992, PMID:28492532, PMID:28512305, PMID:28944237, PMID:29588463, PMID:29625443, PMID:30718709 NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917
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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2C
ClinVar Annotator: match by term: Usher syndrome type 2c, GPR98/PDZD digenic
ClinVar
OMIM
PMID:10234513, PMID:14740321, PMID:15671307, PMID:18414213, PMID:18854872, PMID:19357116, PMID:19357117, PMID:20440071, PMID:21569298, PMID:21946352, PMID:22135276, PMID:22147658, PMID:22334370, PMID:22952768, PMID:23441107, PMID:23767834, PMID:23967202, PMID:24033266, PMID:24123792, PMID:24154662, PMID:24498627, PMID:25133751, PMID:25262649, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25741868, PMID:25741869, PMID:26164827, PMID:26338283, PMID:26467025, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27108799, PMID:27460420, PMID:27575413, PMID:27884173, PMID:28041643, PMID:28492532, PMID:29142287, PMID:29261713 NCBI chr 5:90,558,796...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: Usher syndrome type 2c, GPR98/PDZD digenic
ClinVar Annotator: match by term: Usher syndrome, type 2C
ClinVar
OMIM
PMID:20440071, PMID:25741868 NCBI chr10:101,007,679...101,031,145
Ensembl chr10:101,007,679...101,032,295
JBrowse link
G SLC4A7 solute carrier family 4 member 7 ISS OMIM:605472 MouseDO NCBI chr 3:27,372,721...27,484,420
Ensembl chr 3:27,372,721...27,484,420
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 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID
ClinVar Annotator: match by term: Usher syndrome, type 2D
ClinVar
OMIM
PMID:15841483, PMID:17171570, PMID:20352026, PMID:21569298, PMID:21654738, PMID:22135276, PMID:22147658, PMID:23804846, PMID:24033266, PMID:25262649, PMID:25404053, PMID:25468891, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30245029 NCBI chr 9:114,402,078...114,505,500
Ensembl chr 9:114,402,080...114,505,473
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 IAGP ClinVar Annotator: match by term: Usher Syndrome, Type III
ClinVar Annotator: match by term: Usher syndrome, type 3
ClinVar PMID:7407589, PMID:11524702, PMID:12080385, PMID:12145752, PMID:14569126, PMID:15521980, PMID:16028794, PMID:17407589, PMID:18281613, PMID:19423712, PMID:19753315, PMID:20717163, PMID:21675857, PMID:22681893, PMID:22787034, PMID:23304067, PMID:24033266, PMID:24596593, PMID:25741868, PMID:26180195, PMID:27460420, PMID:28041643, PMID:28492532, PMID:29490346, PMID:30311386 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,999
JBrowse link
G CLRN1-AS1 CLRN1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher Syndrome, Type III ClinVar PMID:12080385, PMID:12145752, PMID:14569126, PMID:16028794, PMID:18281613, PMID:19423712, PMID:19753315, PMID:22787034, PMID:24033266, PMID:25741868, PMID:26180195, PMID:28041643, PMID:28492532 NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726
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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 3A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA
ClinVar
OMIM
PMID:7407589, PMID:11524702, PMID:12080385, PMID:12145752, PMID:14569126, PMID:15521980, PMID:16028794, PMID:17407589, PMID:17893653, PMID:18281613, PMID:19423712, PMID:19753315, PMID:20717163, PMID:21675857, PMID:22135276, PMID:22681893, PMID:22787034, PMID:22952768, PMID:23304067, PMID:24033266, PMID:24596593, PMID:25268133, PMID:25741868, PMID:26180195, PMID:26338283, PMID:27460420, PMID:27610647, PMID:28041643, PMID:28471114, PMID:28492532, PMID:29490346, PMID:30311386, PMID:12145752 RGD:634439 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,999
JBrowse link
G CLRN1-AS1 CLRN1 antisense RNA 1 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA
ClinVar Annotator: match by term: Usher syndrome, type 3A
ClinVar PMID:12080385, PMID:12145752, PMID:14569126, PMID:16028794, PMID:18281613, PMID:19423712, PMID:19753315, PMID:22135276, PMID:22787034, PMID:24033266, PMID:25741868, PMID:26180195, PMID:28041643, PMID:28492532 NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726
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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 3B ClinVar
OMIM
PMID:22279524, PMID:22279824, PMID:22930593, PMID:24033266, PMID:25741868, PMID:26072516, PMID:27353947, PMID:28492532, PMID:28632987, PMID:29235198, PMID:29790872 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
Ensembl chr 5:140,673,035...140,691,537
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 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE IV ClinVar
OMIM
PMID:29300381 NCBI chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731
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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:14740321, PMID:15671307, PMID:22135276, PMID:24033266, PMID:25741868, PMID:26164827, PMID:26338283, PMID:27575413, PMID:28041643 NCBI chr 5:90,558,796...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:24033266 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:12075507, PMID:15537665 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665, PMID:15660226, PMID:24033266 NCBI chr10:53,802,771...55,629,182
Ensembl chr10:53,802,771...55,627,942
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 IAGP ClinVar Annotator: match by term: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI ClinVar
OMIM
PMID:29771303 NCBI chr14:103,385,394...103,503,831
Ensembl chr14:103,385,392...103,503,831
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 IAGP ClinVar Annotator: match by term: Webb-Dattani syndrome ClinVar
OMIM
PMID:24022475 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
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 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005, PMID:25741868, PMID:29760529, PMID:29892088, PMID:30345613 NCBI chr 4:1,871,393...1,982,207
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP
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
ClinVar
CTD
PMID:9771706, PMID:9817917, PMID:9856492, PMID:10521293, PMID:10679252, PMID:10760554, PMID:11161832, PMID:11244483, PMID:11260218, PMID:11295831, PMID:11317350, PMID:12022290, PMID:12107816, PMID:12754709, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:16151413, PMID:17492394, PMID:17517145, PMID:17568405, PMID:17603484, PMID:18040659, PMID:18414213, PMID:18806274, PMID:19042979, PMID:19344068, PMID:19877185, PMID:20738327, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21446023, PMID:21538838, PMID:21602428, PMID:22226368, PMID:22238590, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23981289, PMID:23990876, PMID:24033266, PMID:24088041, PMID:24705017, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26025012, PMID:26435059, PMID:26467025, PMID:26633545, PMID:26875006, PMID:27185633, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044, PMID:30014265, PMID:30311386, PMID:9771706 RGD:1599813 NCBI chr 4:6,260,368...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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 IAGP ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 OMIM
ClinVar
PMID:10679252, PMID:10760554, PMID:11161832, PMID:11317350, PMID:12107816, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:17492394, PMID:17517145, PMID:18414213, PMID:20738327, PMID:21446023, PMID:21602428, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23990876, PMID:24033266, PMID:25133958, PMID:25388789, PMID:25741868, PMID:27185633, PMID:28492532, PMID:28590052 NCBI chr 4:6,260,368...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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
IAGP
EXP
ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar
CTD
OMIM
PMID:10739754, PMID:17846994, PMID:24705017, PMID:25056293, PMID:25371195, PMID:29237418, PMID:19451219, PMID:17846994 RGD:10045601, RGD:10045603 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807
JBrowse link
G SLC9B1 solute carrier family 9 member B1 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754, PMID:17846994, PMID:25056293 NCBI chr 4:102,885,049...103,019,705
Ensembl chr 4:102,885,048...103,019,719
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17777
    sensory system disease 5474
      eye disease 2813
        blindness 128
          Amaurosis Fugax 2
          Deaf-Blind Disorders + 82
          Hemianopsia 0
          Microcephaly Microphthalmos Blindness 0
          Norrie disease 5
          Polycystic Kidney, Cataract, and Congenital Blindness 0
          Retinal Aplasia 0
          Rodrigues Blindness 0
          Scoliosis, Arachnodactyly, and Blindness 0
          Webb-Dattani Syndrome 1
          Yemenite Deaf-Blind Hypopigmentation Syndrome 0
          color blindness + 20
          cortical blindness + 1
          visual impairment and progressive phthisis bulbi 1
Path 2
Term Annotations click to browse term
  disease 17777
    disease of anatomical entity 16339
      nervous system disease 12617
        Neurologic Manifestations 4573
          Sensation Disorders 1168
            Vision Disorders 234
              blindness 128
                Amaurosis Fugax 2
                Deaf-Blind Disorders + 82
                Hemianopsia 0
                Microcephaly Microphthalmos Blindness 0
                Norrie disease 5
                Polycystic Kidney, Cataract, and Congenital Blindness 0
                Retinal Aplasia 0
                Rodrigues Blindness 0
                Scoliosis, Arachnodactyly, and Blindness 0
                Webb-Dattani Syndrome 1
                Yemenite Deaf-Blind Hypopigmentation Syndrome 0
                color blindness + 20
                cortical blindness + 1
                visual impairment and progressive phthisis bulbi 1
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.