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Usher Syndrome Type 1B - 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 1B
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Accession:DOID:9003365 term browser browse the term
Synonyms:exact_synonym: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS;   USH1A;   USH1B;   USHER SYNDROME, TYPE I, FRENCH VARIETY;   Usher Syndrome Type IA;   Usher Syndrome Type IB
 primary_id: MESH:C536485;   MESH:C564755
 alt_id: MIM:276900

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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
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
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
paths to the root