Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
Accession:DOID:0050439 term browser browse the term
Definition:A syndrome characterized by a combination of hearing loss and visual impairment. (DO)
Synonyms:exact_synonym: Graefe Usher syndrome;   Hallgren syndrome;   Usher syndromes;   Usher's syndrome;   Ushers syndrome;   dystrophia retinae pigmentosa dysostosis syndrome;   retinitis pigmentosa and congenital deafness
 primary_id: MESH:D052245
 xref: GARD:7843;   NCI:C85217;   OMIM:PS276900;   ORDO:886


show annotations for term's descendants           Sort by:
Usher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More... NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr11:109,364,159...109,464,156
Ensembl chr11:109,364,200...109,464,156 		JBrowse link
G Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 6:83,719,999...83,735,837
Ensembl chr 6:83,719,972...83,735,837 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,061,619...185,089,974
Ensembl chr 1:185,064,346...185,089,974 		JBrowse link
G C130074G19Rik RIKEN cDNA C130074G19 gene ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,604,123...184,615,233
Ensembl chr 1:184,604,123...184,615,415 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:4,185,422...4,189,608
Ensembl chr19:4,185,422...4,194,032 		JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... RGD:8547536 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 NCBI chr 2:155,798,197...155,840,820
Ensembl chr 2:155,798,378...155,840,820 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 More... NCBI chr 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD		 PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 More... RGD:8547535 NCBI chr 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554 		JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 5:108,794,910...108,808,696
Ensembl chr 5:108,794,559...108,817,538 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:183,766,575...183,807,833
Ensembl chr 1:183,745,499...183,807,833 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,093,614...185,160,557
Ensembl chr 1:185,095,241...185,160,557 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:187,340,707...187,947,082
Ensembl chr 1:187,340,988...187,947,082 		JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 6:38,511,796...38,516,384
Ensembl chr 6:38,510,437...38,516,384 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Dystrophia retinae pigmentosa-dysostosis syndrome | ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome		 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 Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,946,855...187,103,839
Ensembl chr 1:186,947,705...187,083,901 		JBrowse link
G Guca1a guanylate cyclase activator 1a (retina) ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chr17:47,705,482...47,724,439
Ensembl chr17:47,705,483...47,711,509 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr  X:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		JBrowse link
G Hhipl2 hedgehog interacting protein-like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:183,195,395...183,217,962
Ensembl chr 1:183,199,147...183,217,717 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,459,340...184,464,690
Ensembl chr 1:184,459,337...184,464,816 		JBrowse link
G Iars2 isoleucine-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,018,839...185,061,615
Ensembl chr 1:185,016,923...185,061,593 		JBrowse link
G Luc7l2 LUC7-like 2 (S. cerevisiae) ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 6:38,522,996...38,586,888
Ensembl chr 6:38,528,269...38,586,405 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,819,929...185,849,507
Ensembl chr 1:185,819,928...185,849,507 		JBrowse link
G Mark1 MAP/microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,628,621...184,732,152
Ensembl chr 1:184,628,986...184,731,767 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,045,516...185,045,582
Ensembl chr 1:185,045,516...185,045,582 		JBrowse link
G Mir215 microRNA 215 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,045,778...185,045,889
Ensembl chr 1:185,045,778...185,045,889 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,518,964...184,543,622
Ensembl chr 1:184,518,964...184,543,394 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,545,263...184,579,266
Ensembl chr 1:184,545,265...184,578,648 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... RGD:8547536 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:120,682,647...120,762,316
Ensembl chr 7:120,680,873...120,762,320 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... RGD:8547536 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Pde6a phosphodiesterase 6A, cGMP-specific, rod, alpha ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chr18:61,353,546...61,426,698
Ensembl chr18:61,353,387...61,422,995 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 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 Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,453,283...186,481,555
Ensembl chr 1:186,453,175...186,481,555 		JBrowse link
G Serpinb6a serine (or cysteine) peptidase inhibitor, clade B, member 6a ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr13:34,101,901...34,186,777
Ensembl chr13:34,101,901...34,186,777 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,187,045...185,200,959
Ensembl chr 1:185,187,045...185,200,959 		JBrowse link
G Snora36b small nucleolar RNA, H/ACA box 36B ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,975,123...184,975,235
Ensembl chr 1:184,975,104...184,975,235 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,741,811...186,947,705
Ensembl chr 1:186,776,845...186,947,662 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I, A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:183,170,251...183,195,776
Ensembl chr 1:183,170,325...183,191,020 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
G Ush1c USH1 protein network component harmonin treatment ISO
IMP		 ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
DNA:mutations:cds:		 ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8547536, RGD:8695937, RGD:8695939, RGD:8694458, RGD:8694457 NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:20212494 RGD:8547536 NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
G Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
DNA:snps, insertion:exon, intron:multiple (human)		 ClinVar
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... RGD:8547535, RGD:8547956 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11973626 PMID:12833159 PMID:15841483 PMID:21569298 PMID:22147658 More... NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		JBrowse link
G Zdhhc24 zinc finger, DHHC domain containing 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr19:4,928,696...4,935,425
Ensembl chr19:4,928,696...4,935,425 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:9792552 PMID:10090882 PMID:32906214 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:60,182,630...60,266,073
Ensembl chr10:60,182,630...60,208,463 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		JBrowse link
Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		JBrowse link
G 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 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 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:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... RGD:8694152 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G 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 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 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 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 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
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G 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 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 Myo7a myosin VIIA treatment ISO
IMP		 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:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... RGD:1581470, RGD:8694151, RGD:8694151, RGD:8694137, RGD:8694135 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G 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 Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B 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 Ush1c USH1 protein network component harmonin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness		 CTD
ClinVar		 PMID: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
Usher syndrome type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO
IAGP		 ClinVar Annotator: match by term: Usher syndrome type 1C
OMIM:276904
CTD Direct Evidence: marker/mechanism
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)		 OMIM
ClinVar
MouseDO
CTD
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
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (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:9536098 PMID:11090341 PMID:11138009 More... RGD:8662279 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G 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 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 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 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
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 Ush1g USH1 protein network component sans ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: USH1G-related condition | ClinVar Annotator: match by term: Usher syndrome type 1G
OMIM:606943		 OMIM
CTD
ClinVar
MouseDO		 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
Usher syndrome type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 More... NCBI chr 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		JBrowse link
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO 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
Usher syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 More... NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 More... NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G Ush2a usherin susceptibility ISO DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:mutations: :multiple
DNA:snp:intron:c.7595-2144A>G (human)
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human)		 ClinVar
RGD		 PMID:2564938 PMID:9536098 PMID:10729113 PMID:10738000 PMID:10909849 More... RGD:8547952, RGD:8694137, RGD:8547985, RGD:8547965, RGD:8547962 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
Usher syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G 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 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 Pdzd7 PDZ domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A		 OMIM
CTD
ClinVar		 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 Sftpc surfactant associated protein C ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521 		JBrowse link
G Ush2a usherin susceptibility ISO
IAGP		 ClinVar Annotator: match by term: USH2A-related condition | 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
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:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 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
Usher syndrome type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO
IAGP		 ClinVar Annotator: match by term: ADGRV1-related condition | ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
CTD Direct Evidence: marker/mechanism
OMIM:605472		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Cnksr1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:25741868 NCBI chr 4:133,955,352...133,965,737
Ensembl chr 4:133,955,352...133,965,710 		JBrowse link
G Crygc crystallin, gamma C ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:65,110,684...65,112,691
Ensembl chr 1:65,110,684...65,112,848 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:21900877 PMID:25741868 PMID:28492532 NCBI chr 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic		 OMIM
CTD
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 More... NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		JBrowse link
G Slc4a7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 IAGP OMIM:605472 MouseDO NCBI chr14:7,669,819...7,766,808
Ensembl chr14:7,669,823...7,767,484 		JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr18:32,970,241...33,000,008
Ensembl chr18:32,970,278...33,000,647 		JBrowse link
Usher syndrome type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO
IAGP		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D
CTD Direct Evidence: marker/mechanism
OMIM:611383		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 More... NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		JBrowse link
Usher syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
Usher syndrome type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A
OMIM:276902		 CTD
ClinVar
MouseDO
OMIM
RGD		 PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... RGD:634439 NCBI chr 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 3A ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr18:36,896,724...36,899,267
Ensembl chr18:36,896,724...36,899,267 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 More... NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr18:36,916,257...36,925,615
Ensembl chr18:36,916,061...36,925,615 		JBrowse link
Usher Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 More... NCBI chr11:109,364,159...109,464,156
Ensembl chr11:109,364,200...109,464,156 		JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 ClinVar PMID:25741868 PMID:28492532 PMID:33300174 PMID:35226187 PMID:36317447 NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482 		JBrowse link
Usher Syndrome, Type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:14740321 PMID:15671307 PMID:19357117 PMID:22135276 PMID:22147658 More... NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar 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
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    syndrome 10338
      Usher syndrome 71
        Usher Syndrome Type 4 2
        Usher syndrome type 1 + 12
        Usher syndrome type 2 + 14
        Usher syndrome type 3 + 5
        retinitis pigmentosa-deafness syndrome 13
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            Otorhinolaryngologic Diseases 1733
              auditory system disease 988
                Hearing Disorders 815
                  Hearing Loss 810
                    Deafness 384
                      Deaf-Blind Disorders 87
                        Usher syndrome 71
                          Usher Syndrome Type 4 2
                          Usher syndrome type 1 + 12
                          Usher syndrome type 2 + 14
                          Usher syndrome type 3 + 5
                          retinitis pigmentosa-deafness syndrome 13
paths to the root