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Usher syndrome type 1 - Ontology Report - Rat Genome Database

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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:Usher syndrome type 1
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Accession:DOID:0110826 term browser browse the term
Definition:An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. (DO)
Synonyms:exact_synonym: US1;   USH1;   Usher Syndrome, Type I
 xref: NCI:C126327;   ORDO:231169

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Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chrNW_004624743:9,849,070...10,292,392 JBrowse link
G G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504 		JBrowse link
G P ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748 		JBrowse link
G S Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chrNW_004936469:8,653,031...9,209,840 JBrowse link
G D ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532 		JBrowse link
G B ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477 		JBrowse link
G C Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chrNW_004955418:20,603,323...21,039,891 JBrowse link
G R Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G M Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G H 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 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G H AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051 		JBrowse link
G H C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G P C14H10orf105 chromosome 14 C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		JBrowse link
G R C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr20:28,876,519...28,880,120
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G D C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G B C8H10orf105 chromosome 8 C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr10:68,182,453...68,190,718 JBrowse link
G N Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004624754:5,356,006...5,725,774
Ensembl chrNW_004624754:5,393,733...5,724,876 		JBrowse link
G P CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G D CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G C Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G R Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G M Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G H CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G H CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:16199547 PMID:18429043 More... NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G N Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chrNW_004624894:2,688,784...2,704,742
Ensembl chrNW_004624894:2,688,814...2,704,747 		JBrowse link
G G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr26:5,222,657...5,248,133
Ensembl chr26:5,222,902...5,248,191 		JBrowse link
G P CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399 		JBrowse link
G S Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		JBrowse link
G D CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331
G B CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr15:57,033,782...57,060,650
Ensembl chr15:75,998,797...76,025,485 		JBrowse link
G C Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chrNW_004955450:660,655...674,726
Ensembl chrNW_004955450:659,383...675,634 		JBrowse link
G R Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr 8:63,826,410...63,843,301 JBrowse link
G M Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		JBrowse link
G H CIB2 calcium and integrin binding family member 2 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535 		JBrowse link
G N CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chrNW_004624754:5,630,802...5,635,649
Ensembl chrNW_004624754:5,630,673...5,635,688 		JBrowse link
G G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		JBrowse link
G S CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G C CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chrNW_004955437:19,767,395...19,772,447
Ensembl chrNW_004955437:19,767,395...19,772,447 		JBrowse link
G N Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chrNW_004624818:5,015,275...5,042,862
Ensembl chrNW_004624818:5,016,019...5,042,724 		JBrowse link
G G ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr20:125,282,283...125,320,436
Ensembl chr20:125,278,313...125,320,365 		JBrowse link
G P ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591 		JBrowse link
G S Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993 		JBrowse link
G D ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676 		JBrowse link
G B ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 1:5,184,666...5,222,473 JBrowse link
G C Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chrNW_004955486:6,130,190...6,156,859 JBrowse link
G R Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
G M Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828 		JBrowse link
G H ESPN espin IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
G M Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G B LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G S LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G G LOC103216037 cadherin-23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G H LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11138009 PMID:16199547 PMID:21940737 PMID:24033266 PMID:25741868 More... NCBI chr10:71,805,832...71,806,126 JBrowse link
G N Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chrNW_004624863:205,468...283,840
Ensembl chrNW_004624863:205,478...283,839 		JBrowse link
G G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G P MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		JBrowse link
G S Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G D MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G B MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752 		JBrowse link
G C Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chrNW_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500 		JBrowse link
G R Myo7a myosin VIIA ISO
ISS		 DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
OMIM:276900		 ClinVar
MouseDO
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694152 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G M Myo7a myosin VIIA ISO
IAGP		 DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
OMIM:276900		 ClinVar
MouseDO
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694152 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G H MYO7A myosin VIIA IAGP
ISS		 DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
OMIM:276900		 ClinVar
MouseDO
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694152 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G N Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004624791:9,042,311...9,992,341
Ensembl chrNW_004624791:9,195,902...9,990,131 		JBrowse link
G G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G P PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr14:95,530,168...96,388,032 JBrowse link
G S Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G D PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G B PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
G C Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004955425:8,443,523...9,203,177
Ensembl chrNW_004955425:8,428,680...8,899,028 		JBrowse link
G R Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G M Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G H PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G N Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004624754:5,725,697...5,753,575
Ensembl chrNW_004624754:5,726,681...5,753,575 		JBrowse link
G G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 9:59,440,327...59,474,773
Ensembl chr 9:59,440,311...59,474,986 		JBrowse link
G P PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763 		JBrowse link
G S Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
G D PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848 		JBrowse link
G B PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781 		JBrowse link
G C Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
G R Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G M Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G H PSAP prosaposin IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G N Ush1c USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1		 RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chrNW_004624766:9,097,466...9,153,602
Ensembl chrNW_004624766:9,105,990...9,153,663 		JBrowse link
G G USH1C USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1		 RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
G P USH1C USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1		 RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		JBrowse link
G S Ush1c USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1		 RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
G D USH1C USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1		 RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
G B USH1C USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1		 RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256 		JBrowse link
G C Ush1c USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1		 RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chrNW_004955414:32,303,045...32,351,401
Ensembl chrNW_004955414:32,298,759...32,351,505 		JBrowse link
G R Ush1c USH1 protein network component harmonin onset ISO DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
ClinVar Annotator: match by term: Usher syndrome type 1
DNA:mutation:cds: c.216G>A(human)
DNA:deletion:exon:c.1220delG(human)		 ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695918, RGD:8695921, RGD:8695919 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G M Ush1c USH1 protein network component harmonin onset ISO DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
ClinVar Annotator: match by term: Usher syndrome type 1
DNA:mutation:cds: c.216G>A(human)
DNA:deletion:exon:c.1220delG(human)		 ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695918, RGD:8695921, RGD:8695919 NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G H USH1C USH1 protein network component harmonin onset IAGP DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
ClinVar Annotator: match by term: Usher syndrome type 1
DNA:mutation:cds: c.216G>A(human)
DNA:deletion:exon:c.1220delG(human)		 ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695918, RGD:8695921, RGD:8695919 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G N Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chrNW_004624801:4,747,260...4,761,223
Ensembl chrNW_004624801:4,755,688...4,761,180 		JBrowse link
G G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682 		JBrowse link
G P USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361 		JBrowse link
G S Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		JBrowse link
G D USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		JBrowse link
G B USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr17:68,861,622...68,868,822
Ensembl chr17:74,419,769...74,424,794 		JBrowse link
G C Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chrNW_004955553:1,788,443...1,795,139
Ensembl chrNW_004955553:1,788,401...1,796,441 		JBrowse link
G R Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:100,557,629...100,563,590 		JBrowse link
G M Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
G H USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		JBrowse link
G N Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chrNW_004624835:48,213...758,640
Ensembl chrNW_004624835:49,877...758,640 		JBrowse link
G G USH2A usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		JBrowse link
G P USH2A usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr10:5,825,591...6,662,733 JBrowse link
G S Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
G D USH2A usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
G B USH2A usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216 		JBrowse link
G C Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chrNW_004955406:1,837,831...2,499,664
Ensembl chrNW_004955406:1,838,885...2,496,980 		JBrowse link
G R Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr13:102,368,783...103,035,230
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G M Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G H USH2A usherin IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G H USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26927203 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,238,122 		JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G P C14H10orf105 chromosome 14 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		JBrowse link
G R C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr20:28,876,519...28,880,120
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G D C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G B C8H10orf105 chromosome 8 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:68,182,453...68,190,718 JBrowse link
G N Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004624754:5,356,006...5,725,774
Ensembl chrNW_004624754:5,393,733...5,724,876 		JBrowse link
G P CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G D CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G C Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G R Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G M Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G H CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G H CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:21940737 PMID:24033266 More... NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G N CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chrNW_004624754:5,630,802...5,635,649
Ensembl chrNW_004624754:5,630,673...5,635,688 		JBrowse link
G G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		JBrowse link
G S CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G C CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chrNW_004955437:19,767,395...19,772,447
Ensembl chrNW_004955437:19,767,395...19,772,447 		JBrowse link
G M Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G B LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G S LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G G LOC103216037 cadherin-23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G H LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,805,832...71,806,126 JBrowse link
G N Myo7a myosin VIIA treatment ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety OMIM
ClinVar
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694151 NCBI chrNW_004624863:205,468...283,840
Ensembl chrNW_004624863:205,478...283,839 		JBrowse link
G G MYO7A myosin VIIA treatment ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety OMIM
ClinVar
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694151 NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G P MYO7A myosin VIIA treatment ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety OMIM
ClinVar
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694151 NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		JBrowse link
G S Myo7a myosin VIIA treatment ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety OMIM
ClinVar
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694151 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G D MYO7A myosin VIIA treatment ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety OMIM
ClinVar
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694151 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279 		JBrowse link
G B MYO7A myosin VIIA treatment ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety OMIM
ClinVar
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694151 NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752 		JBrowse link
G C Myo7a myosin VIIA treatment ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety OMIM
ClinVar
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694151 NCBI chrNW_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500 		JBrowse link
G R Myo7a myosin VIIA treatment ISO
IAGP		 ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation
DNA:mutations: :multiple		 OMIM
ClinVar
CTD
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:1581470, RGD:8694151, RGD:8694151, RGD:8694137, RGD:8694135 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G M Myo7a myosin VIIA treatment ISO
IMP		 ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
CTD Direct Evidence: marker/mechanism
DNA:mutations: :multiple
DNA:nonsense mutation		 OMIM
ClinVar
CTD
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694135, RGD:8694137, RGD:8694151, RGD:8694151, RGD:1581470 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G H MYO7A myosin VIIA treatment IAGP
EXP
ISO
IDA		 DNA:mutations: :multiple
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation		 ClinVar
CTD
OMIM
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694135, RGD:1581470, RGD:8694151, RGD:8694151, RGD:8694137 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G N Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004624791:9,042,311...9,992,341
Ensembl chrNW_004624791:9,195,902...9,990,131 		JBrowse link
G G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G P PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr14:95,530,168...96,388,032 JBrowse link
G S Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G D PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G B PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
G C Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004955425:8,443,523...9,203,177
Ensembl chrNW_004955425:8,428,680...8,899,028 		JBrowse link
G R Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G M Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G H PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G N Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004624754:5,725,697...5,753,575
Ensembl chrNW_004624754:5,726,681...5,753,575 		JBrowse link
G G PSAP prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 9:59,440,327...59,474,773
Ensembl chr 9:59,440,311...59,474,986 		JBrowse link
G P PSAP prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763 		JBrowse link
G S Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
G D PSAP prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848 		JBrowse link
G B PSAP prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781 		JBrowse link
G C Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
G R Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G M Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G H PSAP prosaposin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G N Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chrNW_004624766:9,097,466...9,153,602
Ensembl chrNW_004624766:9,105,990...9,153,663 		JBrowse link
G G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
G P USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		JBrowse link
G S Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
G D USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
G B USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256 		JBrowse link
G C Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chrNW_004955414:32,303,045...32,351,401
Ensembl chrNW_004955414:32,298,759...32,351,505 		JBrowse link
G R Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G M Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G H USH1C USH1 protein network component harmonin IAGP
EXP		 ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr11:17,493,900...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 N Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chrNW_004624766:9,097,466...9,153,602
Ensembl chrNW_004624766:9,105,990...9,153,663 		JBrowse link
G G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
G P USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		JBrowse link
G S Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
G D USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430 		JBrowse link
G B USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256 		JBrowse link
G C Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chrNW_004955414:32,303,045...32,351,401
Ensembl chrNW_004955414:32,298,759...32,351,505 		JBrowse link
G R Ush1c USH1 protein network component harmonin ISO
ISS		 ClinVar Annotator: match by term: Usher syndrome type 1C
CTD Direct Evidence: marker/mechanism
OMIM:276904
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:1600453 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G M Ush1c USH1 protein network component harmonin ISO
IAGP		 ClinVar Annotator: match by term: Usher syndrome type 1C
CTD Direct Evidence: marker/mechanism
OMIM:276904
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:1600453 NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G H USH1C USH1 protein network component harmonin IAGP
EXP
ISS		 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
OMIM:276904		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:1600453 NCBI chr11:17,493,900...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 H AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:25741868 NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051 		JBrowse link
G H 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 ID | ClinVar Annotator: match by term: Usher syndrome type 1D		 ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G P C14H10orf105 chromosome 14 C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		JBrowse link
G R C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr20:28,876,519...28,880,120
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G D C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G B C8H10orf105 chromosome 8 C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr10:68,182,453...68,190,718 JBrowse link
G N Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004624754:5,356,006...5,725,774
Ensembl chrNW_004624754:5,393,733...5,724,876 		JBrowse link
G P CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G D CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G C Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G R Cdh23 cadherin-related 23 ISO
ISS		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
OMIM:601067
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... RGD:8662279 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G M Cdh23 cadherin related 23 (otocadherin) ISO
IAGP		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism
OMIM:601067		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... RGD:8662279 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G H CDH23 cadherin related 23 ISO
IAGP
ISS
EXP		 ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
OMIM:601067
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... RGD:8662279 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G H CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D		 ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:21940737 PMID:24033266 More... NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G N CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chrNW_004624754:5,630,802...5,635,649
Ensembl chrNW_004624754:5,630,673...5,635,688 		JBrowse link
G G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		JBrowse link
G S CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G C CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chrNW_004955437:19,767,395...19,772,447
Ensembl chrNW_004955437:19,767,395...19,772,447 		JBrowse link
G M Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G B LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G S LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G G LOC103216037 cadherin-23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G H LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID		 ClinVar PMID:11138009 PMID:19888295 PMID:21917145 PMID:21940737 PMID:24006325 More... NCBI chr10:71,805,832...71,806,126 JBrowse link
G N Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004624791:9,042,311...9,992,341
Ensembl chrNW_004624791:9,195,902...9,990,131 		JBrowse link
G G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G P PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr14:95,530,168...96,388,032 JBrowse link
G S Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G D PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G B PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
G C Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004955425:8,443,523...9,203,177
Ensembl chrNW_004955425:8,428,680...8,899,028 		JBrowse link
G R Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G M Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G H PCDH15 protocadherin related 15 IAGP
EXP		 ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G N Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004624754:5,725,697...5,753,575
Ensembl chrNW_004624754:5,726,681...5,753,575 		JBrowse link
G G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 9:59,440,327...59,474,773
Ensembl chr 9:59,440,311...59,474,986 		JBrowse link
G P PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763 		JBrowse link
G S Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
G D PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848 		JBrowse link
G B PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781 		JBrowse link
G C Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
G R Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G M Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G H PSAP prosaposin IAGP ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G N Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chrNW_004624754:5,664,899...5,686,675
Ensembl chrNW_004624754:5,665,445...5,686,692 		JBrowse link
G G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr 9:59,516,012...59,538,628
Ensembl chr 9:59,516,073...59,542,242 		JBrowse link
G P VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr14:74,667,081...74,693,347
Ensembl chr14:74,666,624...74,693,281 		JBrowse link
G D VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687 		JBrowse link
G B VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr10:68,218,230...68,243,687
Ensembl chr10:70,742,062...70,767,613 		JBrowse link
G C Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chrNW_004955437:19,716,466...19,743,428 JBrowse link
G R Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr20:28,824,493...28,850,175
Ensembl chr20:28,281,596...28,303,878 		JBrowse link
G M Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr10:60,182,630...60,266,073
Ensembl chr10:60,182,630...60,208,463 		JBrowse link
G H VSIR V-set immunoregulatory receptor IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520 		JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1F ClinVar PMID:11398101 PMID:11487575 PMID:14570705 PMID:24033266 PMID:25741868 More... NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051 		JBrowse link
G N Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004624791:9,042,311...9,992,341
Ensembl chrNW_004624791:9,195,902...9,990,131 		JBrowse link
G G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G P PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr14:95,530,168...96,388,032 JBrowse link
G S Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G D PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G B PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
G C Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004955425:8,443,523...9,203,177
Ensembl chrNW_004955425:8,428,680...8,899,028 		JBrowse link
G R Pcdh15 protocadherin related 15 ISO
ISS		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F
OMIM:602083
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G M Pcdh15 protocadherin 15 ISO
IAGP		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F
CTD Direct Evidence: marker/mechanism
OMIM:602083		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G H PCDH15 protocadherin related 15 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Usher syndrome type 1F
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F
OMIM:602083
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
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 H LOC130061627 ATAC-STARR-seq lymphoblastoid active region 12722 IAGP ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:12588794 PMID:22219650 PMID:28492532 PMID:28944237 NCBI chr17:74,919,520...74,919,569 JBrowse link
G N Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chrNW_004624791:9,042,311...9,992,341
Ensembl chrNW_004624791:9,195,902...9,990,131 		JBrowse link
G G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G P PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr14:95,530,168...96,388,032 JBrowse link
G S Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G D PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G B PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
G C Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chrNW_004955425:8,443,523...9,203,177
Ensembl chrNW_004955425:8,428,680...8,899,028 		JBrowse link
G R Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G M Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G H PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G N Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chrNW_004624801:4,747,260...4,761,223
Ensembl chrNW_004624801:4,755,688...4,761,180 		JBrowse link
G G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682 		JBrowse link
G P USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361 		JBrowse link
G S Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		JBrowse link
G D USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900 		JBrowse link
G B USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chr17:68,861,622...68,868,822
Ensembl chr17:74,419,769...74,424,794 		JBrowse link
G C Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chrNW_004955553:1,788,443...1,795,139
Ensembl chrNW_004955553:1,788,401...1,796,441 		JBrowse link
G R Ush1g USH1 protein network component sans ISO
ISS		 ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G
CTD Direct Evidence: marker/mechanism
OMIM:606943		 OMIM
ClinVar
CTD
MouseDO		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chr10:101,055,923...101,062,753
Ensembl chr10:100,557,629...100,563,590 		JBrowse link
G M Ush1g USH1 protein network component sans ISO
IAGP		 ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G
CTD Direct Evidence: marker/mechanism
OMIM:606943		 OMIM
ClinVar
CTD
MouseDO		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
G H USH1G USH1 protein network component sans IAGP
EXP
ISS		 ClinVar Annotator: match by term: Usher syndrome type 1G
ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G
CTD Direct Evidence: marker/mechanism
OMIM:606943		 OMIM
ClinVar
CTD
MouseDO		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... 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 N Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chrNW_004624894:2,688,784...2,704,742
Ensembl chrNW_004624894:2,688,814...2,704,747 		JBrowse link
G G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chr26:5,222,657...5,248,133
Ensembl chr26:5,222,902...5,248,191 		JBrowse link
G P CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399 		JBrowse link
G S Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		JBrowse link
G D CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More...
G B CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chr15:57,033,782...57,060,650
Ensembl chr15:75,998,797...76,025,485 		JBrowse link
G C Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chrNW_004955450:660,655...674,726
Ensembl chrNW_004955450:659,383...675,634 		JBrowse link
G R Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chr 8:63,826,410...63,843,301 JBrowse link
G M Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chr 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		JBrowse link
G H CIB2 calcium and integrin binding family member 2 IAGP ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chr15:78,104,606...78,131,535
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 N Espn espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004624818:5,015,275...5,042,862
Ensembl chrNW_004624818:5,016,019...5,042,724 		JBrowse link
G G ESPN espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr20:125,282,283...125,320,436
Ensembl chr20:125,278,313...125,320,365 		JBrowse link
G P ESPN espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591 		JBrowse link
G S Espn espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993 		JBrowse link
G D ESPN espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676 		JBrowse link
G B ESPN espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:5,184,666...5,222,473 JBrowse link
G C Espn espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004955486:6,130,190...6,156,859 JBrowse link
G R Espn espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
G M Espn espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828 		JBrowse link
G H ESPN espin IAGP ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chrNW_004624754:5,356,006...5,725,774
Ensembl chrNW_004624754:5,393,733...5,724,876 		JBrowse link
G P CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G D CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131 		JBrowse link
G C Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G R Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G M Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G H CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G H CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:21940737 PMID:25741868 More... NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G B LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G S LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G G LOC103216037 cadherin-23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G N Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chrNW_004624791:9,042,311...9,992,341
Ensembl chrNW_004624791:9,195,902...9,990,131 		JBrowse link
G G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G P PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr14:95,530,168...96,388,032 JBrowse link
G S Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G D PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017 		JBrowse link
G B PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
G C Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chrNW_004955425:8,443,523...9,203,177
Ensembl chrNW_004955425:8,428,680...8,899,028 		JBrowse link
G R Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G M Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G H 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...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      Usher syndrome 813
        Usher syndrome type 1 124
          Usher Syndrome Type 1B 62
          Usher Syndrome Type 1M 10
          Usher syndrome type 1C 10
          Usher syndrome type 1D + 52
          Usher syndrome type 1E 0
          Usher syndrome type 1F + 22
          Usher syndrome type 1G 21
          Usher syndrome type 1H 0
          Usher syndrome type 1J 10
          Usher syndrome type 1K 0
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            Otorhinolaryngologic Diseases 19638
              auditory system disease 11215
                Hearing Disorders 8892
                  Hearing Loss 8838
                    Deafness 4116
                      Deaf-Blind Disorders 980
                        Usher syndrome 813
                          Usher syndrome type 1 124
                            Usher Syndrome Type 1B 62
                            Usher Syndrome Type 1M 10
                            Usher syndrome type 1C 10
                            Usher syndrome type 1D + 52
                            Usher syndrome type 1E 0
                            Usher syndrome type 1F + 22
                            Usher syndrome type 1G 21
                            Usher syndrome type 1H 0
                            Usher syndrome type 1J 10
                            Usher syndrome type 1K 0
paths to the root