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Usher syndrome type 2A - 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 2A
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Accession:DOID:0110838 term browser browse the term
Definition:An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. (DO)
Synonyms:exact_synonym: USH2A;   Usher syndrome, type IIA
 broad_synonym: USH2A-RELATED CONDITION;   USH2A-related disorder
 primary_id: MESH:C536490
 alt_id: MIM:276901
 xref: GARD:5440

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Usher syndrome type 2A 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 2A ClinVar 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 2A ClinVar 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 2A ClinVar 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 2A ClinVar 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 2A ClinVar 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 2A ClinVar 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 2A ClinVar 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 2A ClinVar NCBI chr 2:11,331,434...11,911,713
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 2A ClinVar 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 2A ClinVar NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G N Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chrNW_004624754:5,356,006...5,725,774
Ensembl chrNW_004624754:5,393,733...5,724,876 		JBrowse link
G G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G P CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 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 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 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 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 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 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr20:28,240,643...28,622,490
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 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 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 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G N Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chrNW_004624835:11,110...46,480 JBrowse link
G G KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr25:13,951,569...14,008,370
Ensembl chr25:13,950,775...14,008,338 		JBrowse link
G P KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr10:5,754,180...5,815,126
Ensembl chr10:5,754,156...5,815,086 		JBrowse link
G S Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chrNW_004936628:2,862,536...2,912,784
Ensembl chrNW_004936628:2,862,617...2,912,790 		JBrowse link
G D KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr38:11,016,344...11,059,843
Ensembl chr38:11,008,857...11,084,871 		JBrowse link
G B KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr 1:191,138,755...191,193,352
Ensembl chr 1:195,992,842...196,051,606 		JBrowse link
G C Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chrNW_004955406:2,500,619...2,539,123
Ensembl chrNW_004955406:2,501,083...2,540,125 		JBrowse link
G R Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718 		JBrowse link
G M Kctd3 potassium channel tetramerisation domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr 1:188,703,292...188,740,095
Ensembl chr 1:188,703,292...188,740,038 		JBrowse link
G H KCTD3 potassium channel tetramerization domain containing 3 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr 1:215,567,304...215,621,807
Ensembl chr 1:215,567,304...215,621,807 		JBrowse link
G B LOC100983880 cadherin-23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 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 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G H LOC122152296 OCT4-NANOG hESC enhancer GRCh37_chr1:216419825-216420431 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A 		ClinVar PMID:10729113 PMID:10909849 PMID:15241801 PMID:16098008 PMID:16199547 More... NCBI chr 1:216,246,483...216,247,089 JBrowse link
G H LOC126806009 MED14-independent group 3 enhancer GRCh37_chr1:216230868-216232067 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chr 1:216,057,526...216,058,725 JBrowse link
G H LOC132088648 Neanderthal introgressed variant-containing enhancer experimental_4209 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chr 1:216,249,415...216,249,584 JBrowse link
G N Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chrNW_004624831:608,270...624,679
Ensembl chrNW_004624831:608,970...624,617 		JBrowse link
G G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr 9:94,026,036...94,049,043 JBrowse link
G P PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr14:112,088,332...112,111,348 JBrowse link
G S Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107 		JBrowse link
G D PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784 		JBrowse link
G B PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr10:97,608,969...97,632,508
Ensembl chr10:101,085,370...101,107,034 		JBrowse link
G C Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chrNW_004955485:9,166,721...9,183,129
Ensembl chrNW_004955485:9,166,745...9,182,427 		JBrowse link
G R Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
G M Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		JBrowse link
G H PDZD7 PDZ domain containing 7 IAGP
EXP 		ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		JBrowse link
G N Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:mutations:multiple (human)
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human) 		OMIM
ClinVar
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547961 RGD:8547987 NCBI chrNW_004624835:48,213...758,640
Ensembl chrNW_004624835:49,877...758,640 		JBrowse link
G G USH2A usherin susceptibility ISO ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:mutations:multiple (human)
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human) 		OMIM
ClinVar
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547961 RGD:8547987 NCBI chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		JBrowse link
G P USH2A usherin susceptibility ISO ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:mutations:multiple (human)
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human) 		OMIM
ClinVar
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547961 RGD:8547987 NCBI chr10:5,825,591...6,662,733 JBrowse link
G S Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human) 		OMIM
ClinVar
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547961 RGD:8547987 NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
G D USH2A usherin susceptibility ISO ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human) 		OMIM
ClinVar
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547961 RGD:8547987 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444 		JBrowse link
G B USH2A usherin susceptibility ISO ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:mutations:multiple (human)
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human) 		OMIM
ClinVar
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547961 RGD:8547987 NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216 		JBrowse link
G C Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human) 		OMIM
ClinVar
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547961 RGD:8547987 NCBI chrNW_004955406:1,837,831...2,499,664
Ensembl chrNW_004955406:1,838,885...2,496,980 		JBrowse link
G R Ush2a usherin susceptibility ISO
ISS 		ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
OMIM:276901
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547987, RGD:8547961 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G M Ush2a usherin susceptibility ISO
IAGP 		ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
OMIM:276901
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547987, RGD:8547961 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G H USH2A usherin susceptibility IAGP
ISS
EXP 		DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA
OMIM:276901
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547961, RGD:8547987 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G H USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A 		ClinVar PMID:3196484 PMID:3203739 PMID:3258136 PMID:9536098 PMID:9624053 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,238,122 		JBrowse link
G H USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A 		ClinVar PMID:9536098 PMID:10729113 PMID:10909849 PMID:16199547 PMID:17085681 More... NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,454...216,086,917 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 292310
    syndrome 133617
      Usher syndrome 805
        Usher syndrome type 2 143
          Usher syndrome type 2A 55
Path 2
Term Annotations click to browse term
  disease 292310
    Pathological Conditions, Signs and Symptoms 179680
      Signs and Symptoms 137794
        Neurologic Manifestations 126897
          sensory system disease 89675
            Otorhinolaryngologic Diseases 19661
              auditory system disease 11217
                Hearing Disorders 8890
                  Hearing Loss 8836
                    Deafness 4100
                      Deaf-Blind Disorders 962
                        Usher syndrome 805
                          Usher syndrome type 2 143
                            Usher syndrome type 2A 55
paths to the root