Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


GViewer not supported for chinchilla.
show annotations for term's descendants           Sort by:
 
blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Legal blindness
ClinVar Annotator: match by term: Vision loss
ClinVar PMID:9054934, PMID:9466990, PMID:9781034, PMID:9973280, PMID:10090887, PMID:10206579, PMID:10711710, PMID:10958763, PMID:11017087, PMID:11328725, PMID:11527935, PMID:11702214, PMID:12192456, PMID:12796258, PMID:15579991, PMID:16103129, PMID:16303926, PMID:19074458, PMID:19217903, PMID:21911583, PMID:22264887, PMID:22312191, PMID:22995991, PMID:23755871, PMID:23769331, PMID:23918662, PMID:24033266, PMID:24509150, PMID:24713488, PMID:25087612, PMID:25712131, PMID:25741868, PMID:26103963, PMID:26229699, PMID:26593885, PMID:27014590, PMID:27367509, PMID:27820952, PMID:27939946, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29114839, PMID:29186038, PMID:29847635, PMID:30311386, PMID:30718709 NCBI chrNW_004955423:612,098...738,702 JBrowse link
G Aipl1 aryl hydrocarbon receptor interacting protein like 1 susceptibility ISO RGD PMID:10873396 RGD:1599003 NCBI chrNW_004955467:11,952,940...11,962,147 JBrowse link
G Aqp4 aquaporin 4 ISO associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chrNW_004955772:1,160...10,709 JBrowse link
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25558065, PMID:27270415 NCBI chrNW_004955492:7,669,956...7,683,293 JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chrNW_004955457:704,213...729,702 JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:17345604, PMID:17564967, PMID:20683928, PMID:21866095, PMID:23188109, PMID:25741868, PMID:25920555, PMID:26092869, PMID:28492532, PMID:28497568, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chrNW_004955405:25,533,037...25,607,021 JBrowse link
G Cerkl ceramide kinase like ISO ClinVar Annotator: match by term: Vision loss ClinVar PMID:14681825, PMID:21151602, PMID:22164218, PMID:24043777, PMID:24625443, PMID:25097241, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709, PMID:221642182 NCBI chrNW_004955403:15,620,047...15,727,957 JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chrNW_004955453:7,261,278...7,351,414 JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chrNW_004955424:27,181,717...27,240,067 JBrowse link
G Lca5 lebercilin LCA5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chrNW_004955502:7,325,650...7,373,641 JBrowse link
G Lrrk2 leucine rich repeat kinase 2 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chrNW_004955505:84,324...216,923 JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: VISION LOSS ClinVar PMID:21520333, PMID:28492532, PMID:30311386 NCBI chrNW_004955481:6,145,855...6,404,179 JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724, PMID:16226919 NCBI chrNW_004955423:23,184,326...23,208,206 JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:30311386 NCBI chrNW_004955479:2,570,937...2,636,884 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Legal blindness ClinVar PMID:15015129, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:18273898, PMID:20513143, PMID:21569298, PMID:24033266, PMID:24498627, PMID:24944099, PMID:25575603, PMID:25741868, PMID:26927203, PMID:27460420, PMID:28492532, PMID:30311386 NCBI chrNW_004955406:1,837,831...2,499,664 JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:23093773 RGD:11075234 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Vsx2 visual system homeobox 2 susceptibility ISO microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P RGD PMID:10932181 RGD:734779 NCBI chrNW_004955523:1,192,035...1,207,949 JBrowse link
achromatopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:24033266, PMID:28041643 NCBI chrNW_004955462:14,352,956...14,553,299 JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807, PMID:23714322, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chrNW_004955422:18,023,639...18,028,845 JBrowse link
G Cacna2d4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004955454:4,329,520...4,430,460 JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20079539, PMID:20238023, PMID:20506298, PMID:20549516, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24903488, PMID:25168900, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26992781, PMID:27820752, PMID:28159970, PMID:28341476, PMID:28492532, PMID:28559085, PMID:29053603, PMID:30311386, PMID:30682209 NCBI chrNW_004955470:4,884,054...4,907,151 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967, PMID:1572225, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25558176, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:27479814, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709 NCBI chrNW_004955417:4,164,328...4,288,516 JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chrNW_004955435:13,009,147...13,021,968 JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:10393054, PMID:18614542, PMID:19615668, PMID:19887631, PMID:23776498, PMID:25741868, PMID:26103963, PMID:28041643, PMID:28492532, PMID:28704108, PMID:30080950 NCBI chrNW_004955507:129,678...179,586 JBrowse link
Achromatopsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
RGD
ClinVar
PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17693388, PMID:18521937, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24903488, PMID:25616768, PMID:25741868, PMID:25943428, PMID:26992781, PMID:28492532, PMID:30311386, PMID:30682209 RGD:9068452 NCBI chrNW_004955470:4,884,054...4,907,151 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 treatment ISO DNA:deletion: :c.1148delC (human)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
RGD
ClinVar
PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:21576125, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25558176, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709 RGD:9068446, RGD:9068450 NCBI chrNW_004955417:4,164,328...4,288,516 JBrowse link
achromatopsia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chrNW_004955423:612,098...738,702 JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO OMIM NCBI chrNW_004955470:4,884,054...4,907,151 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709 NCBI chrNW_004955417:4,164,328...4,288,516 JBrowse link
achromatopsia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO OMIM NCBI chrNW_004955417:4,164,328...4,288,516 JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat2 G protein subunit alpha transducin 2 ISO OMIM NCBI chrNW_004955435:13,009,147...13,021,968 JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19887631, PMID:25741868, PMID:30080950 NCBI chrNW_004955507:129,678...179,586 JBrowse link
achromatopsia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO OMIM NCBI chrNW_004955462:14,352,956...14,553,299 JBrowse link
Amaurosis Fugax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r15a protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chrNW_004955559:1,750,227...1,753,607 JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chrNW_004955457:15,803,493...15,823,193 JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO OMIM NCBI chrNW_004955490:8,303,775...8,330,713 JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chrNW_004955514:3,902,508...3,924,281 JBrowse link
blue color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opn1sw opsin 1, short wave sensitive ISO OMIM NCBI chrNW_004955479:9,573,594...9,576,668 JBrowse link
color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chrNW_004955462:14,352,956...14,553,299 JBrowse link
G Bdnf brain derived neurotrophic factor susceptibility ISO associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) RGD PMID:21640793 RGD:8655850 NCBI chrNW_004955476:6,773,244...6,822,201 JBrowse link
G Cdkl5 cyclin dependent kinase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:618178, PMID:9618178, PMID:10234514, PMID:10533068, PMID:10922205, PMID:19390641, PMID:20061330, PMID:20809529, PMID:28272453, PMID:28492532, PMID:30311386, PMID:30652005 NCBI chrNW_004955586:791,886...997,713 JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Color vision defects
ClinVar Annotator: match by term: Achromatopsia
CTD
ClinVar
RGD
PMID:9662398, PMID:11536077, PMID:14757870, PMID:17693388, PMID:23972307, PMID:25741868, PMID:28492532, PMID:30311386, PMID:30418171, PMID:30682209 RGD:734792 NCBI chrNW_004955470:4,884,054...4,907,151 JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:mutations
CTD
RGD
PMID:10958649, PMID:30418171 RGD:1600870 NCBI chrNW_004955417:4,164,328...4,288,516 JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12077706 RGD:1599034 NCBI chrNW_004955435:13,009,147...13,021,968 JBrowse link
G Nr2e3 nuclear receptor subfamily 2 group E member 3 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10655056, PMID:15453866, PMID:15459973, PMID:18294254, PMID:19273793, PMID:19718767, PMID:21217109, PMID:23039133, PMID:23591405, PMID:23989059, PMID:24474277, PMID:25079116, PMID:25097241, PMID:25703721, PMID:25741868, PMID:28041643, PMID:28492532, PMID:30311386, PMID:30718709 NCBI chrNW_004955450:5,281,707...5,286,260 JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:7724547, PMID:28041643, PMID:30311386 NCBI chrNW_004955514:234,972...279,420 JBrowse link
G Pde6h phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chrNW_004955413:11,654,252...11,711,799 JBrowse link
G Rdh5 retinol dehydrogenase 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:30311386, PMID:30718709 NCBI chrNW_004955458:3,356,324...3,361,701 JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:10937588, PMID:20669900, PMID:23150612, PMID:24940031, PMID:28209709, PMID:28492532, PMID:30311386 NCBI chrNW_004955516:1,160,148...1,193,540 JBrowse link
G Ttll5 tubulin tyrosine ligase like 5 ISO ClinVar Annotator: match by term: Color vision defects ClinVar PMID:28492532, PMID:30311386 NCBI chrNW_004955612:109,742...351,255 JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm8a translocase of inner mitochondrial membrane 8A ISO OMIM NCBI chrNW_004955503:7,480,075...7,483,218 JBrowse link
Norrie disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fzd4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chrNW_004955414:6,094,585...6,103,910 JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO OMIM NCBI chrNW_004955516:4,218,703...4,244,774 JBrowse link
G Prss23 serine protease 23 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768, PMID:15035989, PMID:20340138, PMID:20938005, PMID:24033266, PMID:24744206, PMID:25711638, PMID:25741868, PMID:26908610, PMID:27316669 NCBI chrNW_004955414:6,202,383...6,213,521 JBrowse link
G Tspan12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chrNW_004955479:2,570,937...2,636,884 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 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507, PMID:16963483, PMID:18429043, PMID:19683999, PMID:21174530, PMID:21228398, PMID:21569298, PMID:22135276, PMID:22995991, PMID:24033266, PMID:25474345, PMID:25741868, PMID:26969326, PMID:27018795, PMID:28492532, PMID:30029624, PMID:30718709 NCBI chrNW_004955437:19,683,792...20,044,718 JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004955418:19,346...30,514 JBrowse link
G LOC102004321 chromosome unknown open reading frame, human C10orf105 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955437:19,767,395...19,772,447 JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 NCBI chrNW_004955414:14,576,356...14,647,500 JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004955425:8,443,523...9,203,177 JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004955414:32,303,045...32,351,401 JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004955553:1,788,443...1,795,139 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004955406:1,837,831...2,499,664 JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004955437:19,716,466...19,743,428 JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30245029 NCBI chrNW_004955419:13,116,001...13,207,266 JBrowse link
Seizures, Cortical Blindness, and Microcephaly Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous related formin 1 ISO OMIM NCBI chrNW_004955415:12,156,152...12,272,961 JBrowse link
Usher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:14740321, PMID:15671307, PMID:24033266, PMID:24154662, PMID:25133751, PMID:25404053, PMID:25741868, PMID:26164827, PMID:26467025, PMID:27068579, PMID:27575413, PMID:28041643, PMID:28492532, PMID:29099798 NCBI chrNW_004955418:20,603,323...21,039,891 JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chrNW_004955478:4,326,669...4,475,559 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, PMID:17980398, PMID:18032602, PMID:18669544, PMID:18766993, PMID:20498079, PMID:21052717, PMID:21642631, PMID:22581970, PMID:22940089, PMID:23143442, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26872967, PMID:27032803, PMID:27659767, PMID:28041643, PMID:28492532, PMID:29264490, PMID:30614526, PMID:30718709 NCBI chrNW_004955422:18,825,756...18,843,820 JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955520:3,521,096...3,543,255 JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Hallgren syndrome
ClinVar Annotator: match by term: Usher syndrome
ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:16963483, PMID:17850630, PMID:18273900, PMID:18429043, PMID:19683999, PMID:21174530, PMID:21228398, PMID:21569298, PMID:22135276, PMID:22899989, PMID:22995991, PMID:24033266, PMID:25333064, PMID:25356970, PMID:25474345, PMID:25587757, PMID:25741868, PMID:26467025, PMID:26681316, PMID:26969326, PMID:27018795, PMID:28492532, PMID:28501645, PMID:30029624, PMID:30718709 NCBI chrNW_004955437:19,683,792...20,044,718 JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881, PMID:25741868 NCBI chrNW_004955422:25,932,377...25,978,524 JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955520:2,338,548...2,371,591 JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955520:3,550,558...3,606,015 JBrowse link
G Esrrg estrogen related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955406:1,260,240...1,784,652 JBrowse link
G Gpatch2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955406:800,496...963,004 JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732, PMID:28492532, PMID:30718709 NCBI chrNW_004955437:8,370,553...8,382,640 JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chrNW_004955418:19,346...30,514 JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955520:1,926,220...1,942,928 JBrowse link
G Hlx H2.0 like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955520:2,937,131...2,941,170 JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955520:3,485,816...3,521,035 JBrowse link
G LOC102004321 chromosome unknown open reading frame, human C10orf105 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12075507, PMID:15537665, PMID:18273900, PMID:21228398, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chrNW_004955437:19,767,395...19,772,447 JBrowse link
G LOC106147121 chromosome unknown open reading frame, human C1orf115 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955520:3,064,235...3,065,978 JBrowse link
G Lyplal1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955520:4,251,863...4,281,775 JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955520:3,087,581...3,205,525 JBrowse link
G Myo7a myosin VIIA ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome
CTD
ClinVar
PMID:3130723, PMID:7568224, PMID:7870171, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10425080, PMID:10447383, PMID:10930322, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15221449, PMID:15660226, PMID:15823922, PMID:15965244, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22690115, PMID:22898263, PMID:23208854, PMID:23237960, PMID:23451239, PMID:23591405, PMID:23770805, PMID:24033266, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24831256, PMID:24875298, PMID:25080338, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25472526, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26309859, PMID:26338283, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27208204, PMID:27344577, PMID:27460420, PMID:27583663, PMID:27610647, PMID:27743452, PMID:27957503, PMID:28000701, PMID:28041643, PMID:28439001, PMID:28472130, PMID:28492532, PMID:28944237, PMID:29142287, PMID:29196752, PMID:29490346, PMID:30245029, PMID:30303587, PMID:30311386, PMID:30459346, PMID:30718709, PMID:31479088 NCBI chrNW_004955414:14,576,356...14,647,500 JBrowse link
G Pcdh15 protocadherin related 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
CTD
ClinVar
PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:19309154, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28041643, PMID:28281779, PMID:28492532 NCBI chrNW_004955425:8,443,523...9,203,177 JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chrNW_004955480:7,955,501...8,059,537 JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Hallgren syndrome
ClinVar Annotator: match by term: Usher syndrome
ClinVar PMID:18429043, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955520:3,411,504...3,483,703 JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955406:260,447...295,842 JBrowse link
G Slc30a10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955520:3,631,192...3,641,595 JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955406:599,438...800,369 JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955520:1,900,802...1,921,350 JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004955406:174,949...249,248 JBrowse link
G Ush1c USH1 protein network component harmonin treatment ISO ClinVar Annotator: match by term: Usher syndrome
DNA:mutations:cds:
RGD
ClinVar
PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12630964, PMID:12702164, PMID:14519688, PMID:15578223, PMID:15660226, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:21436283, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30718709 RGD:8694457, RGD:8694458, RGD:8695937, RGD:8695939 NCBI chrNW_004955414:32,303,045...32,351,401 JBrowse link
G Ush2a usherin susceptibility ISO DNA:snps, insertion:exon, intron:multiple (human)
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome
RGD
ClinVar
PMID:1968399, PMID:9624053, PMID:10090909, PMID:10729113, PMID:10775529, PMID:10909849, PMID:11311042, PMID:11402400, PMID:12112664, PMID:12427073, PMID:12525556, PMID:14970843, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:15326663, PMID:15823922, PMID:16098008, PMID:16114888, PMID:16963483, PMID:17085681, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18452394, PMID:18463160, PMID:18641288, PMID:18665195, PMID:19023448, PMID:19129697, PMID:19683999, PMID:19737284, PMID:19881469, PMID:20052763, PMID:20145675, PMID:20301515, PMID:20507924, PMID:20591486, PMID:20596040, PMID:21151602, PMID:21174530, PMID:21234346, PMID:21569298, PMID:21686329, PMID:21738395, PMID:22004887, PMID:22009552, PMID:22135276, PMID:22334370, PMID:22495311, PMID:22581970, PMID:22681893, PMID:22952768, PMID:23352160, PMID:23591405, PMID:23737954, PMID:23804846, PMID:23924366, PMID:23940504, PMID:23991284, PMID:24033266, PMID:24088041, PMID:24160897, PMID:24265693, PMID:24498627, PMID:24516651, PMID:24607488, PMID:24625443, PMID:24853665, PMID:24944099, PMID:25078356, PMID:25097241, PMID:25133613, PMID:25133751, PMID:25261458, PMID:25262649, PMID:25324289, PMID:25326637, PMID:25333064, PMID:25356976, PMID:25375654, PMID:25404053, PMID:25412400, PMID:25425308, PMID:25472526, PMID:25521520, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868, PMID:25823529, PMID:25910913, PMID:25991456, PMID:25999674, PMID:26310143, PMID:26338283, PMID:26633545, PMID:26667666, PMID:26764160, PMID:26766544, PMID:26806561, PMID:26872967, PMID:26927203, PMID:26969326, PMID:27157150, PMID:27160483, PMID:27208204, PMID:27318125, PMID:27460420, PMID:27596865, PMID:27624628, PMID:27957503, PMID:28041643, PMID:28130426, PMID:28157192, PMID:28492532, PMID:28512305, PMID:28559085, PMID:28653555, PMID:28894305, PMID:28944237, PMID:28981474, PMID:29074561, PMID:29142287, PMID:29196752, PMID:29293505, PMID:29343940, PMID:29490346, PMID:29625443, PMID:29767709, PMID:29912909, PMID:29953849, PMID:30190494, PMID:30245029, PMID:30311386, PMID:30337596, PMID:30543658, PMID:30718709, PMID:31877679 RGD:8547956 NCBI chrNW_004955406:1,837,831...2,499,664 JBrowse link
G Zdhhc24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255, PMID:12524598, PMID:12677556, PMID:12837689, PMID:15314642, PMID:17980398, PMID:18032602, PMID:18669544, PMID:18766993, PMID:20498079, PMID:21052717, PMID:21642631, PMID:22581970, PMID:22940089, PMID:23143442, PMID:23565731, PMID:23847139, PMID:23943788, PMID:24033266, PMID:25326635, PMID:25741868, PMID:26467025, PMID:26872967, PMID:27032803, PMID:27659767, PMID:28041643, PMID:28492532, PMID:29264490, PMID:30614526, PMID:30718709 NCBI chrNW_004955422:18,813,325...18,819,878 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 chrNW_004955418:20,603,323...21,039,891 JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:16679490, PMID:16963483, PMID:18273900, PMID:19683999, PMID:20613545, PMID:21228398, PMID:21569298, PMID:21738395, PMID:24033266, PMID:25468891, PMID:25741868, PMID:25788563, PMID:26467025, PMID:28492532 NCBI chrNW_004955437:19,683,792...20,044,718 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:23023331 NCBI chrNW_004955450:660,655...674,726 JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:29572253 NCBI chrNW_004955486:6,130,190...6,156,859 JBrowse link
G LOC102004321 chromosome unknown open reading frame, human C10orf105 ISO ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:12075507, PMID:15537665, PMID:18273900, PMID:21228398, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chrNW_004955437:19,767,395...19,772,447 JBrowse link
G Myo7a myosin VIIA ISO DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
RGD
ClinVar
PMID:3130723, PMID:7568224, PMID:7870171, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10364543, PMID:10425080, PMID:10447383, PMID:10930322, PMID:12080385, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15121790, PMID:15221449, PMID:15592175, PMID:15606003, PMID:15660226, PMID:15823922, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:17960123, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20613545, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22690115, PMID:22785243, PMID:22898263, PMID:23226338, PMID:23237960, PMID:23451214, PMID:23451239, PMID:23591405, PMID:23770805, PMID:23804846, PMID:23882135, PMID:24033266, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24498627, PMID:24618850, PMID:24831256, PMID:24875298, PMID:25080338, PMID:25262649, PMID:25333064, PMID:25404053, PMID:25468891, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26445815, PMID:26467025, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27208204, PMID:27344577, PMID:27440999, PMID:27460420, PMID:27583663, PMID:27610647, PMID:27743452, PMID:27766948, PMID:27957503, PMID:28008688, PMID:28041643, PMID:28472130, PMID:28492532, PMID:28944237, PMID:29142287, PMID:29490346, PMID:30245029, PMID:30311386, PMID:30459346, PMID:30718709, PMID:31479088 RGD:8694152 NCBI chrNW_004955414:14,576,356...14,647,500 JBrowse link
G Otop2 otopetrin 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298 NCBI chrNW_004955553:1,796,015...1,804,652 JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:16679490, PMID:20672374, PMID:21569298, PMID:22135276, PMID:22183965, PMID:22815625, PMID:23967202, PMID:24033266, PMID:24105371, PMID:24498627, PMID:24618850, PMID:24831256, PMID:25262649, PMID:25307757, PMID:25468891, PMID:25525159, PMID:25741868, PMID:26467025, PMID:27058588, PMID:27208204, PMID:27460420, PMID:27766948, PMID:27861356, PMID:28492532, PMID:30718709 NCBI chrNW_004955425:8,443,523...9,203,177 JBrowse link
G Ush1c USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
DNA:mutation:cds: c.216G>A(human)
DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
RGD
ClinVar
PMID:9760205, PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:23251578, PMID:23380860, PMID:24033266, PMID:24498627, PMID:25356976, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30718709 RGD:8695918, RGD:8695919, RGD:8695921 NCBI chrNW_004955414:32,303,045...32,351,401 JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher Syndrome Type I
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar PMID:11941484, PMID:12588794, PMID:21569298, PMID:25741868 NCBI chrNW_004955553:1,788,443...1,795,139 JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar PMID:21569298, PMID:24033266, PMID:26667666, PMID:28041643, PMID:28492532 NCBI chrNW_004955406:1,837,831...2,499,664 JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA treatment ISO OMIM
RGD
PMID:23991031 RGD:8694151 NCBI chrNW_004955414:14,576,356...14,647,500 JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:12711741, PMID:15028842, PMID:15537665, PMID:15660226, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chrNW_004955425:8,443,523...9,203,177 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:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:21436283, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30718709 NCBI chrNW_004955414:32,303,045...32,351,401 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 OMIM NCBI chrNW_004955414:32,303,045...32,351,401 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 ISO OMIM NCBI chrNW_004955437:19,683,792...20,044,718 JBrowse link
G LOC102004321 chromosome unknown open reading frame, human C10orf105 ISO ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar PMID:11090341, PMID:11138009, PMID:12075507, PMID:15537665, PMID:15660226, PMID:17850630, PMID:18273900, PMID:18429043, PMID:20146813, PMID:21228398, PMID:21569298, PMID:21940737, PMID:22135276, PMID:22899989, PMID:24033266, PMID:24875298, PMID:25468891, PMID:25741868, PMID:25991456, PMID:26467025, PMID:28492532 NCBI chrNW_004955437:19,767,395...19,772,447 JBrowse link
G Pcdh15 protocadherin related 15 ISO OMIM NCBI chrNW_004955425:8,443,523...9,203,177 JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:25991456, PMID:28492532 NCBI chrNW_004955437:19,667,252...19,683,669 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 related 15 ISO OMIM NCBI chrNW_004955425:8,443,523...9,203,177 JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otop2 otopetrin 2 ISO ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar PMID:15660226, PMID:17896313, PMID:22135276, PMID:24033266, PMID:25741868, PMID:28224992, PMID:28492532 NCBI chrNW_004955553:1,796,015...1,804,652 JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome, type 1G ClinVar PMID:12711741, PMID:15028842, PMID:22815625, PMID:24033266, PMID:24105371, PMID:25262649, PMID:25307757, PMID:25525159, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chrNW_004955425:8,443,523...9,203,177 JBrowse link
G Ush1g USH1 protein network component sans ISO OMIM NCBI chrNW_004955553:1,788,443...1,795,139 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 OMIM NCBI chrNW_004955450:660,655...674,726 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 OMIM NCBI chrNW_004955486:6,130,190...6,156,859 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:19357117, PMID:22135276, PMID:22147658, PMID:24033266, PMID:24123792, PMID:25741868, PMID:28492532 NCBI chrNW_004955418:20,603,323...21,039,891 JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chrNW_004955437:19,683,792...20,044,718 JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chrNW_004955414:14,576,356...14,647,500 JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chrNW_004955414:32,303,045...32,351,401 JBrowse link
G Ush2a usherin susceptibility ISO DNA:mutations: :multiple
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
DNA:insertion, deletions, snps:multiple (human)
DNA:snp:intron:c.7595-2144A>G (human)
DNA:mutations:multiple (human)
RGD
ClinVar
PMID:10729113, PMID:10738000, PMID:10775529, PMID:10909849, PMID:11311042, PMID:12112664, PMID:12525556, PMID:15015129, PMID:15025721, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:17296898, PMID:17405132, PMID:18273898, PMID:18452394, PMID:18463160, PMID:18641288, PMID:18665195, PMID:19683999, PMID:19881469, PMID:20052763, PMID:20145675, PMID:20507924, PMID:20513143, PMID:21174530, PMID:21234346, PMID:21569298, PMID:21686329, PMID:22004887, PMID:22009552, PMID:22135276, PMID:22495311, PMID:23352160, PMID:23591405, PMID:23924366, PMID:24033266, PMID:24160897, PMID:24498627, PMID:24938718, PMID:24944099, PMID:25078356, PMID:25097241, PMID:25211151, PMID:25262649, PMID:25324289, PMID:25333064, PMID:25356976, PMID:25404053, PMID:25558175, PMID:25575603, PMID:25649381, PMID:25741868, PMID:26310143, PMID:26338283, PMID:26927203, PMID:27032803, PMID:27160483, PMID:27318125, PMID:27344577, PMID:27460420, PMID:28041643, PMID:28130426, PMID:28492532, PMID:28653555, PMID:28894305, PMID:28944237, PMID:28981474, PMID:29142287, PMID:29293505, PMID:29490346, PMID:29625443, PMID:29899460, PMID:30245029, PMID:30311386, PMID:30718709, PMID:30948794 RGD:8547952, RGD:8547962, RGD:8547965, RGD:8547985, RGD:8694137 NCBI chrNW_004955406:1,837,831...2,499,664 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 chrNW_004955418:20,603,323...21,039,891 JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA ClinVar PMID:2706105, PMID:12075507, PMID:12522556, PMID:15353998, PMID:21940737, PMID:24033266, PMID:25741868, PMID:27460420, PMID:28492532 NCBI chrNW_004955437:19,683,792...20,044,718 JBrowse link
G 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 JBrowse link
G Pdzd7 PDZ domain containing 7 ISO OMIM NCBI chrNW_004955485:9,166,721...9,183,129 JBrowse link
G Ush2a usherin susceptibility ISO DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human)
OMIM
RGD
PMID:9624053, PMID:10729113 RGD:8547961, RGD:8547987 NCBI chrNW_004955406:1,837,831...2,499,664 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 OMIM NCBI chrNW_004955418:20,603,323...21,039,891 JBrowse link
G Pdzd7 PDZ domain containing 7 ISO OMIM NCBI chrNW_004955485:9,166,721...9,183,129 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 OMIM NCBI chrNW_004955419:13,116,001...13,207,266 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 III
ClinVar Annotator: match by term: Usher syndrome, type 3
ClinVar PMID:7407589, PMID:11524702, PMID:12080385, PMID:12145752, PMID:14569126, PMID:15521980, PMID:16028794, PMID:17407589, PMID:18281613, PMID:19423712, PMID:19753315, PMID:20717163, PMID:21675857, PMID:22681893, PMID:22787034, PMID:23304067, PMID:24033266, PMID:24596593, PMID:25741868, PMID:26180195, PMID:27460420, PMID:28041643, PMID:28492532, PMID:29490346, PMID:30311386 NCBI chrNW_004955448:2,062,647...2,106,548 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 OMIM NCBI chrNW_004955448:2,062,647...2,106,548 JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars1 histidyl-tRNA synthetase 1 ISO OMIM NCBI chrNW_004955418:19,346...30,514 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 OMIM NCBI chrNW_004955478:4,326,669...4,475,559 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:22135276, PMID:24033266, PMID:25741868, PMID:26164827, PMID:26338283, PMID:27575413, PMID:28041643 NCBI chrNW_004955418:20,603,323...21,039,891 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 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:12075507, PMID:15537665, PMID:15660226, PMID:24033266 NCBI chrNW_004955437:19,683,792...20,044,718 JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665, PMID:15660226, PMID:24033266 NCBI chrNW_004955425:8,443,523...9,203,177 JBrowse link
visual impairment and progressive phthisis bulbi term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mark3 microtubule affinity regulating kinase 3 ISO OMIM NCBI chrNW_004955538:2,273,221...2,370,204 JBrowse link
Webb-Dattani Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arnt2 aryl hydrocarbon receptor nuclear translocator 2 ISO OMIM NCBI chrNW_004955416:11,279,866...11,429,365 JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005, PMID:25741868, PMID:29760529, PMID:29892088, PMID:30345613 NCBI chrNW_004955514:1,084,522...1,162,624 JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: DIDMOAD syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
ClinVar Annotator: match by term: Wolfram syndrome
CTD Direct Evidence: marker/mechanism
RGD
ClinVar
CTD
PMID:9771706, PMID:9817917, PMID:9856492, PMID:10521293, PMID:10679252, PMID:10760554, PMID:11161832, PMID:11244483, PMID:11260218, PMID:11295831, PMID:11317350, PMID:12022290, PMID:12107816, PMID:12754709, PMID:12955714, PMID:15151504, PMID:15234338, PMID:15277431, PMID:15605410, PMID:16151413, PMID:17492394, PMID:17517145, PMID:17568405, PMID:17603484, PMID:18040659, PMID:18414213, PMID:18806274, PMID:19042979, PMID:19344068, PMID:19877185, PMID:20738327, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21446023, PMID:21538838, PMID:21602428, PMID:22226368, PMID:22238590, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23856252, PMID:23981289, PMID:23990876, PMID:24033266, PMID:24088041, PMID:24705017, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26025012, PMID:26435059, PMID:26467025, PMID:26633545, PMID:26875006, PMID:27185633, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:28590052, PMID:29529044, PMID:30014265, PMID:30311386 RGD:1599813 NCBI chrNW_004955514:3,902,508...3,924,281 JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chrNW_004955514:3,902,508...3,924,281 JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO OMIM NCBI chrNW_004955496:5,656,686...5,672,888 JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754, PMID:17846994, PMID:25056293 NCBI chrNW_004955496:5,586,836...5,637,550 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11810
    sensory system disease 4499
      eye disease 2320
        blindness 87
          Amaurosis Fugax 1
          Deaf-Blind Disorders + 48
          Hemianopsia 0
          Microcephaly Microphthalmos Blindness 0
          Norrie disease 4
          Polycystic Kidney, Cataract, and Congenital Blindness 0
          Retinal Aplasia 0
          Rodrigues Blindness 0
          Scoliosis, Arachnodactyly, and Blindness 0
          Webb-Dattani Syndrome 1
          Yemenite Deaf-Blind Hypopigmentation Syndrome 0
          color blindness + 17
          cortical blindness + 1
          visual impairment and progressive phthisis bulbi 1
Path 2
Term Annotations click to browse term
  disease 11810
    disease of anatomical entity 11364
      nervous system disease 9290
        Neurologic Manifestations 3724
          Sensation Disorders 908
            Vision Disorders 183
              blindness 87
                Amaurosis Fugax 1
                Deaf-Blind Disorders + 48
                Hemianopsia 0
                Microcephaly Microphthalmos Blindness 0
                Norrie disease 4
                Polycystic Kidney, Cataract, and Congenital Blindness 0
                Retinal Aplasia 0
                Rodrigues Blindness 0
                Scoliosis, Arachnodactyly, and Blindness 0
                Webb-Dattani Syndrome 1
                Yemenite Deaf-Blind Hypopigmentation Syndrome 0
                color blindness + 17
                cortical blindness + 1
                visual impairment and progressive phthisis bulbi 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.