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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:blindness
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Accession:DOID:1432 term browser browse the term
Definition:An eye disease characterized by a lack or loss of vision. (DO)
Synonyms:exact_synonym: Complete Blindness;   Hysterical Blindness;   acquired blindness;   amauroses;   amaurosis;   legal blindness;   monocular blindness;   transient blindness;   vision impairment;   vision loss
 narrow_synonym: antidepressant-induced visual impairment
 primary_id: MESH:D001766
 xref: EFO:0006323;   ICD10CM:H54;   ICD9CM:369
For additional species annotation, visit the Alliance of Genome Resources.



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: Blindness ClinVar PMID:9973280 PMID:10958761 PMID:24938718 PMID:25312043 PMID:25741868 More... NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 susceptibility ISO RGD PMID:10873396 RGD:1599003 NCBI chr 5:30,824,571...30,835,025
Ensembl chr 5:30,824,683...30,834,128
JBrowse link
G AQP4 aquaporin 4 ISO associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chr 7:61,855,617...61,868,953
Ensembl chr 7:61,855,744...61,865,089
JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25558065 PMID:25741868 PMID:27270415 NCBI chr 4:8,409,039...8,424,776
Ensembl chr 4:8,409,484...8,424,644
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chr37:22,420,645...22,446,769
Ensembl chr37:22,420,603...22,446,697
JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 More... NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr10:56,632,801...56,694,872
Ensembl chr10:56,579,899...56,787,187
JBrowse link
G LCA5 lebercilin LCA5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chr12:40,443,759...40,527,300
Ensembl chr12:40,444,617...40,527,292
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr MT:13,582...14,109
Ensembl chr MT:13,582...14,109
JBrowse link
G MYO15A myosin XVA induces ISO DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat)
compared to LEW/Ztm
RGD PMID:21479269 RGD:150429616 NCBI chr 5:41,369,484...41,421,303
Ensembl chr 5:41,370,509...41,392,881
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724 PMID:16226919 NCBI chr 6:76,887,399...76,911,133
Ensembl chr 6:76,887,399...76,911,131
JBrowse link
G SLC7A14 solute carrier family 7 member 14 ISO MouseDO NCBI chr34:34,953,442...35,065,447
Ensembl chr34:34,958,156...35,012,544
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:15015129 PMID:15043528 PMID:15241801 PMID:15325563 PMID:16963483 More... NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:23093773 RGD:11075234 NCBI chr12:12,209,032...12,224,978
Ensembl chr12:12,208,231...12,224,965
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 chr 8:47,455,337...47,473,786
Ensembl chr 8:47,455,340...47,473,684
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:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 More... NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 More... NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 More... NCBI chr28:7,839,604...7,887,827
Ensembl chr28:7,839,847...7,887,776
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) RGD PMID:18521937 RGD:9068452 NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 treatment ISO DNA:deletion: :c.1148delC (human) RGD PMID:17265047 PMID:21576125 RGD:9068446 RGD:9068450 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
achromatopsia 2 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
IAGP
ClinVar Annotator: match by term: Achromatopsia 2 | ClinVar Annotator: match by term: Rod monochromacy 2
Achromatopsia-2, CNGA3-related
OMIM
ClinVar
OMIA
PMID:9536098 PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 More... NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
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
IAGP
Achromatopsia-3, CNGB3-related
ClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopia
OMIM
OMIA
ClinVar
PMID:1347967 PMID:1572225 PMID:5298491 PMID:5314319 PMID:5314320 More... NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
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 ClinVar Annotator: match by term: Achromatopsia 4 OMIM
ClinVar
PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:20301591 More... NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
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:16199547 PMID:19615668 PMID:19887631 PMID:20301591 PMID:23776498 More... NCBI chr28:7,839,604...7,887,827
Ensembl chr28:7,839,847...7,887,776
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 ClinVar Annotator: match by term: Achromatopsia 7 OMIM
ClinVar
PMID:24824130 PMID:25741868 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
JBrowse link
Amaurosis Fugax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:15073384 RGD:1582361 NCBI chr 5:28,978,385...28,986,644
Ensembl chr 5:28,978,473...28,986,648
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chr 1:107,486,399...107,490,151
Ensembl chr 1:107,486,438...107,489,222
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 chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision OMIM
ClinVar
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:81,150,537...81,171,521
Ensembl chr  X:81,150,536...81,212,689
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 ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant OMIM
ClinVar
PMID:10521293 PMID:10679252 PMID:11244483 PMID:11295831 PMID:11709537 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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 ClinVar Annotator: match by term: Blue color blindness OMIM
ClinVar
PMID:1386496 PMID:1531728 PMID:2937147 PMID:25605338 PMID:25741868 More... NCBI chr14:7,865,370...7,869,516
Ensembl chr14:7,865,561...7,868,745
JBrowse link
blue cone monochromacy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Blue cone monochromacy | ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type OMIM
ClinVar
PMID:1881435 PMID:8666378 PMID:8792812 PMID:15094734 PMID:25741868 NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418
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 chr38:20,705,167...20,903,852
Ensembl chr38:20,709,038...20,903,814
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 chr21:48,191,580...48,243,699
Ensembl chr21:48,192,670...48,204,480
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Color vision defect ClinVar PMID:11536077 PMID:17693388 PMID:20238023 PMID:25741868 PMID:26992781 More... NCBI chr10:44,232,716...44,278,555
Ensembl chr10:44,234,004...44,260,746
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 susceptibility ISO DNA:mutations
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10958649 PMID:30418171 RGD:1600870 NCBI chr29:32,744,946...32,992,715
Ensembl chr29:32,749,389...32,893,077
JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Color vision defect ClinVar NCBI chr  X:26,290,903...28,444,635
Ensembl chr  X:26,290,910...28,333,576
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12077706 RGD:1599034 NCBI chr 6:42,259,404...42,271,197
Ensembl chr 6:42,259,702...42,268,082
JBrowse link
G PDE6H phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr27:31,640,731...31,664,494
Ensembl chr27:31,640,737...31,664,401
JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:75,270,952...75,302,663
Ensembl chr  X:75,270,979...75,302,562
JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Deafness dystonia syndrome OMIM
ClinVar
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... NCBI chr  X:75,267,437...75,270,288
Ensembl chr  X:75,267,450...75,270,288
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:17955262 PMID:20340138 PMID:20938005 More... NCBI chr21:12,699,886...12,709,132
Ensembl chr21:12,699,774...12,724,923
JBrowse link
G NDP norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria OMIM
ClinVar
PMID:1303235 PMID:1303264 PMID:1307245 PMID:7627181 PMID:7814011 More... NCBI chr  X:37,949,560...37,975,573
Ensembl chr  X:37,950,489...37,975,346
JBrowse link
G PRSS23 serine protease 23 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr21:12,792,212...12,813,067
Ensembl chr21:12,793,373...12,803,136
JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr14:58,941,658...59,005,507
Ensembl chr14:58,941,551...59,005,463
JBrowse link
red color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1LW opsin 1, medium wave sensitive ISO ClinVar Annotator: match by term: Protan defect OMIM
ClinVar
PMID:8666378 PMID:12051694 PMID:15094734 PMID:25741868 NCBI chr  X:121,974,552...121,987,418
Ensembl chr  X:121,974,552...121,987,418
JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:22,472,365...22,478,931 JBrowse link
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 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
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 chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687
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 chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
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 ANKHD1 ankyrin repeat and KH domain containing 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,618,287...35,742,050
Ensembl chr 2:35,618,282...35,744,734
JBrowse link
G APBB3 amyloid beta precursor protein binding family B member 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,753,212...35,759,152
Ensembl chr 2:35,753,241...35,759,012
JBrowse link
G BRD8 bromodomain containing 8 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,793,375...25,825,868
Ensembl chr11:25,793,668...25,825,726
JBrowse link
G CD14 CD14 molecule ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,790,505...35,792,967 JBrowse link
G CDC23 cell division cycle 23 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,834,752...25,851,588
Ensembl chr11:25,834,737...25,852,341
JBrowse link
G CDC25C cell division cycle 25C ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,904,152...25,940,754
Ensembl chr11:25,904,144...25,935,744
JBrowse link
G CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:26,273,322...26,459,497
Ensembl chr11:26,143,013...26,459,091
JBrowse link
G CXXC5 CXXC finger protein 5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:34,903,680...34,939,580
Ensembl chr 2:34,935,858...35,082,085
JBrowse link
G CYSTM1 cysteine rich transmembrane module containing 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,391,089...35,434,063
Ensembl chr 2:35,391,154...35,453,194
JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 2:36,483,781...36,581,390
Ensembl chr 2:36,485,571...36,581,320
JBrowse link
G DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:34,730,877...34,762,234
Ensembl chr 2:34,733,250...34,762,276
JBrowse link
G DND1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,825,154...35,827,913
Ensembl chr 2:35,825,636...35,827,840
JBrowse link
G ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:34,763,814...34,773,491 JBrowse link
G EGR1 early growth response 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:26,046,195...26,049,806
Ensembl chr11:26,046,228...26,048,575
JBrowse link
G EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,742,811...35,744,749
Ensembl chr 2:35,618,282...35,744,734
JBrowse link
G ETF1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:26,078,611...26,110,805
Ensembl chr11:26,080,478...26,110,894
JBrowse link
G FAM13B family with sequence similarity 13 member B ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,626,334...25,712,897
Ensembl chr11:25,628,536...25,708,365
JBrowse link
G GFRA3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,881,523...25,897,863
Ensembl chr11:25,882,099...25,897,817
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760
JBrowse link
G HBEGF heparin binding EGF like growth factor ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,551,248...35,563,310
Ensembl chr 2:35,551,250...35,563,043
JBrowse link
G HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,464,601...25,467,460
Ensembl chr11:25,466,185...25,467,117
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:26,122,917...26,142,458
Ensembl chr11:26,121,499...26,142,434
JBrowse link
G IK IK cytokine ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,805,631...35,818,205
Ensembl chr 2:35,805,689...35,818,050
JBrowse link
G KDM3B lysine demethylase 3B ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,954,352...26,024,919
Ensembl chr11:25,943,864...26,023,866
JBrowse link
G KIF20A kinesin family member 20A ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,826,140...25,834,220
Ensembl chr11:25,825,747...25,833,985
JBrowse link
G KLHL3 kelch like family member 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,329,922...25,505,281
Ensembl chr11:25,334,241...25,443,494
JBrowse link
G LOC100685940 protocadherin gamma-A6 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,350,982...36,355,644 JBrowse link
G LOC100855970 protocadherin beta-4 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,178,858...36,184,360 JBrowse link
G LOC106557817 protocadherin beta-2-like ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,157,839...36,161,560 JBrowse link
G LOC111089960 protocadherin alpha-7 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,954,126...36,096,661
Ensembl chr 2:35,910,402...36,095,110
JBrowse link
G LOC111094198 protocadherin alpha-5-like ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,935,228...35,937,624 JBrowse link
G LOC478037 protocadherin alpha-6 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,943,781...36,062,929 JBrowse link
G LOC478038 protocadherin gamma-C5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,297,841...36,481,900
Ensembl chr 2:36,316,678...36,480,278
JBrowse link
G LOC487172 protocadherin beta-5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,182,150...36,197,654 JBrowse link
G LOC487173 protocadherin beta-6 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,207,400...36,211,372
Ensembl chr 2:36,208,071...36,210,518
JBrowse link
G LOC487174 protocadherin beta-7 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,221,120...36,224,409
Ensembl chr 2:36,221,689...36,224,082
JBrowse link
G LOC487175 protocadherin beta-14 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,226,490...36,232,201
Ensembl chr 2:36,229,411...36,231,807
JBrowse link
G LOC487176 protocadherin beta-18 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,239,316...36,242,793
Ensembl chr 2:36,239,463...36,241,796
JBrowse link
G LOC487178 protocadherin beta-15 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,251,313...36,271,637 JBrowse link
G LOC607624 protocadherin gamma-A9 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,383,739...36,389,108 JBrowse link
G LRRTM2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:26,392,642...26,397,018
Ensembl chr11:26,392,734...26,396,223
JBrowse link
G MATR3 matrin 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:26,736,728...26,790,449
Ensembl chr11:26,758,261...26,790,449
JBrowse link
G MYOT myotilin ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,574,087...25,592,767
Ensembl chr11:25,564,136...25,592,339
JBrowse link
G MZB1 marginal zone B and B1 cell specific protein ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:34,710,487...34,712,660
Ensembl chr 2:34,706,007...34,712,626
JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,803,452...35,805,530
Ensembl chr 2:35,803,453...35,805,531
JBrowse link
G NME5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,772,162...25,792,856
Ensembl chr11:25,772,157...25,792,176
JBrowse link
G NRG2 neuregulin 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,085,192...35,264,509
Ensembl chr 2:35,085,361...35,264,378
JBrowse link
G PAIP2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:34,671,130...34,695,974
Ensembl chr 2:34,671,150...34,695,299
JBrowse link
G PCDHA1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHA10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHA11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHA12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHA3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHA4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHA6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHA7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHAC1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,013,249...36,017,667 JBrowse link
G PCDHB1 protocadherin beta 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,136,076...36,140,177
Ensembl chr 2:36,136,681...36,139,137
JBrowse link
G PFDN1 prefoldin subunit 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,454,139...35,519,818
Ensembl chr 2:35,454,404...35,519,725
JBrowse link
G PKD2L2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,594,327...25,628,262
Ensembl chr11:25,594,394...25,628,509
JBrowse link
G PROB1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:34,713,286...34,719,568
Ensembl chr 2:34,714,399...34,717,786
JBrowse link
G PSD2 pleckstrin and Sec7 domain containing 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:34,940,295...35,080,623
Ensembl chr 2:34,935,858...35,082,085
JBrowse link
G PURA purine rich element binding protein A ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,325,630...35,345,366
Ensembl chr 2:35,330,902...35,332,835
JBrowse link
G REEP2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:26,026,715...26,032,489
Ensembl chr11:26,026,828...26,032,505
JBrowse link
G SIL1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:26,470,439...26,689,198
Ensembl chr11:26,470,487...26,731,294
JBrowse link
G SLC23A1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:34,694,064...34,708,498
Ensembl chr 2:34,698,838...34,708,412
JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,286,080...36,287,619
Ensembl chr 2:36,286,584...36,287,489
JBrowse link
G SLC35A4 solute carrier family 35 member A4 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,761,589...35,763,511
Ensembl chr 2:35,761,626...35,762,600
JBrowse link
G SLC4A9 solute carrier family 4 member 9 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,575,316...35,589,878
Ensembl chr 2:35,576,550...35,587,980
JBrowse link
G SPATA24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:34,719,710...34,724,880
Ensembl chr 2:34,719,713...34,724,843
JBrowse link
G SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:24,733,290...25,013,400
Ensembl chr11:24,733,603...25,007,376
JBrowse link
G SRA1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,745,518...35,752,497
Ensembl chr 2:35,745,877...35,752,502
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:34,783,947...34,792,204
Ensembl chr 2:34,784,232...34,789,072
JBrowse link
G TAF7 TATA-box binding protein associated factor 7 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:36,295,387...36,297,681
Ensembl chr 2:36,295,911...36,296,960
JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,797,298...35,803,491
Ensembl chr 2:35,797,464...35,803,199
JBrowse link
G UBE2D2 ubiquitin conjugating enzyme E2 D2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:34,827,994...34,884,047
Ensembl chr 2:34,827,888...34,897,412
JBrowse link
G WDR55 WD repeat domain 55 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,820,082...35,825,311
Ensembl chr 2:35,820,116...35,825,094
JBrowse link
G WNT8A Wnt family member 8A ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr11:25,707,058...25,752,724
Ensembl chr11:25,744,780...25,749,748
JBrowse link
G ZMAT2 zinc finger matrin-type 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 2:35,851,972...35,860,818
Ensembl chr 2:35,852,109...35,858,065
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: 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 chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G ARSG arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr 9:15,048,563...15,115,095
Ensembl chr 9:15,048,588...15,115,101
JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr10:69,261,311...69,287,540
Ensembl chr10:69,252,926...69,287,542
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 chr18:50,816,126...50,835,354 JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,834,642...14,857,242
Ensembl chr38:14,834,643...14,857,227
JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO 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 chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 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:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G CEP250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 NCBI chr24:24,411,882...24,461,916
Ensembl chr24:24,418,859...24,461,640
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:26214305 PMID:26426422 PMID:28492532 More...
G CLRN1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:7407589 PMID:15521980 PMID:17407589 PMID:17893653 PMID:19753315 More... NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178
JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 8:10,215,101...10,230,017
Ensembl chr 8:10,214,536...10,233,550
JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:108,249,911...108,261,015
Ensembl chr 1:108,249,911...108,261,010
JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:16,196,354...16,233,640
Ensembl chr38:16,196,635...16,231,315
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,754,628...14,823,626
Ensembl chr38:14,754,632...14,823,621
JBrowse link
G ESRRG estrogen related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:11,825,055...12,439,143
Ensembl chr38:11,823,520...12,256,028
JBrowse link
G GPATCH2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:12,682,263...12,850,587
Ensembl chr38:12,685,619...12,850,529
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G HHIPL2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:16,791,695...16,818,482
Ensembl chr38:16,791,695...16,818,411
JBrowse link
G HLX H2.0 like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,538,744...15,543,686
Ensembl chr38:15,539,029...15,542,152
JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,864,004...14,925,684
Ensembl chr38:14,863,998...14,925,635
JBrowse link
G LYPLAL1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,100,818...14,137,292
Ensembl chr38:14,100,698...14,268,481
JBrowse link
G MARK1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,270,523...15,341,934
Ensembl chr38:15,273,004...15,340,448
JBrowse link
G MIR194 microRNA mir-194 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,895,401...14,895,458
Ensembl chr38:14,895,401...14,895,458
JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,460,548...15,490,941
Ensembl chr38:15,463,548...15,532,241
JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:15,426,884...15,451,701
Ensembl chr38:15,426,666...15,451,136
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 PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 3:64,229,487...64,362,346
Ensembl chr 3:64,260,685...64,382,009
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:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,927,670...15,025,554
Ensembl chr38:14,928,628...15,025,865
JBrowse link
G RRP15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:13,377,518...13,416,809
Ensembl chr38:13,377,571...13,421,810
JBrowse link
G SERPINB6 serpin family B member 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr35:3,234,694...3,245,726
Ensembl chr35:3,234,697...3,262,829
JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:14,705,517...14,746,835
Ensembl chr38:14,709,866...14,747,540
JBrowse link
G SPATA17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:12,850,773...13,058,137
Ensembl chr38:12,850,469...13,146,096
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 chr38:16,827,853...16,858,506
Ensembl chr38:16,828,205...16,858,432
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242
JBrowse link
G USH1C USH1 protein network component harmonin treatment 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
RGD
ClinVar
PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 More... RGD:8695937 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
JBrowse link
G USH2A usherin susceptibility ISO DNA:snps, insertion:exon, intron:multiple (human)
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
RGD
ClinVar
PMID:1968399 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 More... RGD:8547956 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
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 More... NCBI chr18:50,801,179...50,808,480
Ensembl chr18:50,801,303...50,806,877
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 chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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
G ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
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
RGD
ClinVar
PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
G 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 NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
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 chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G MYO7A myosin VIIA treatment ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IB | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
OMIM
ClinVar
RGD
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... RGD:8694151 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G 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:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
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 ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C4H10orf105 chromosome 4 C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr 4:22,472,365...22,478,931 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr 4:22,571,095...22,603,880
Ensembl chr 4:22,572,153...22,603,848
JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr 4:22,504,888...22,530,702
Ensembl chr 4:22,459,363...22,530,687
JBrowse link
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 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar
PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chr 9:5,527,935...5,532,940
Ensembl chr 9:5,528,492...5,533,900
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 OMIM
ClinVar
PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 More...
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 5:60,285,185...60,316,261
Ensembl chr 5:60,285,312...60,315,676
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 chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr21:21,539,735...21,624,063
Ensembl chr21:21,539,785...21,624,279
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 PMID:30311386 NCBI chr21:40,055,786...40,100,685
Ensembl chr21:40,055,730...40,101,430
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:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human)
DNA:snp:intron:c.7595-2144A>G (human)
RGD
ClinVar
PMID:9536098 PMID:10729113 PMID:10738000 PMID:10909849 PMID:11311042 More... RGD:8547952 RGD:8547962 RGD:8547965 RGD:8547985 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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 chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr38:11,016,344...11,059,843
Ensembl chr38:11,008,857...11,084,871
JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A OMIM
ClinVar
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784
JBrowse link
G USH2A usherin susceptibility ISO ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human)
OMIM
ClinVar
RGD
PMID:1968399 PMID:2525289 PMID:9536098 PMID:9624053 PMID:10090909 More... RGD:8547961 RGD:8547987 NCBI chr38:11,063,221...11,750,444
Ensembl chr38:11,063,817...11,750,444
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 ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic OMIM
ClinVar
PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
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 2:73,805,333...73,814,711
Ensembl chr 2:73,805,710...73,814,725
JBrowse link
G CRYGC crystallin gamma C ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:24033266 PMID:25741868 PMID:28492532 Ensembl chr37:16,424,884...16,482,227 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 chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063
JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic OMIM
ClinVar
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 More... NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784
JBrowse link
G SLC4A7 solute carrier family 4 member 7 ISO OMIM:605472 MouseDO NCBI chr23:16,710,649...16,788,277
Ensembl chr23:16,710,701...16,785,541
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 chr 3:1,451,543...1,494,474
Ensembl chr 3:1,451,555...1,494,438
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 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D OMIM
ClinVar
PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 More... NCBI chr11:68,617,383...68,699,824
Ensembl chr11:68,617,377...68,699,977
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:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
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 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A OMIM
ClinVar
PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... NCBI chr23:45,512,639...45,551,010
Ensembl chr23:45,513,416...45,551,178
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 chr 2:35,825,154...35,827,913
Ensembl chr 2:35,825,636...35,827,840
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22930593 More... NCBI chr 2:35,828,243...35,843,615
Ensembl chr 2:35,828,260...35,843,583
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr 2:35,843,611...35,851,257
Ensembl chr 2:35,843,706...35,850,760
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: Usher syndrome, type 4 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 More... NCBI chr 9:15,048,563...15,115,095
Ensembl chr 9:15,048,588...15,115,101
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Usher syndrome, type 4 ClinVar PMID:28492532 PMID:33300174 NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683
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 chr 3:17,866,459...18,351,532
Ensembl chr 3:17,866,808...18,351,532
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 NCBI chr28:13,693,032...13,711,654
Ensembl chr28:13,693,023...13,711,784
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 PMID:25741868 More... NCBI chr 4:22,206,972...22,570,875
Ensembl chr 4:22,207,001...22,571,131
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 chr26:33,426,728...34,589,208
Ensembl chr26:33,719,839...34,588,017
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 ClinVar Annotator: match by term: Visual impairment and progressive phthisis bulbi OMIM
ClinVar
PMID:25741868 PMID:29771303 NCBI chr 8:71,148,263...71,269,717
Ensembl chr 8:71,102,690...71,270,399
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 ClinVar Annotator: match by term: Webb-Dattani syndrome OMIM
ClinVar
PMID:24022475 PMID:25741868 PMID:28492532 NCBI chr 3:57,005,106...57,139,585
Ensembl chr 3:57,008,570...57,159,713
JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:91,385,733...91,400,252
Ensembl chr 3:91,379,049...91,400,656
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:91,499,088...91,508,982 JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:62,268,027...62,304,767
Ensembl chr 3:62,267,708...62,302,136
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035
JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr38:19,574,122...19,599,821
Ensembl chr38:19,574,125...19,599,064
JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,747...3,702
Ensembl chr MT:2,747...3,703
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome ClinVar PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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 ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 OMIM
ClinVar
PMID:1161832 PMID:3387915 PMID:9771706 PMID:9817917 PMID:9856492 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827
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 ClinVar Annotator: match by term: Wolfram syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More... NCBI chr32:24,257,909...24,274,732
Ensembl chr32:24,257,994...24,274,064
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 PMID:25741868 PMID:28492532 NCBI chr32:24,292,961...24,352,795
Ensembl chr32:24,272,035...24,352,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14896
    sensory system disease 6187
      Vision Disorders 242
        blindness 176
          Amaurosis Fugax 2
          Deaf-Blind Disorders + 66
          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 + 11
          cortical blindness + 80
          visual impairment and progressive phthisis bulbi 1
Path 2
Term Annotations click to browse term
  disease 14896
    disease of anatomical entity 14565
      nervous system disease 12400
        Neurologic Manifestations 8834
          sensory system disease 6187
            eye disease 2868
              Vision Disorders 242
                blindness 176
                  Amaurosis Fugax 2
                  Deaf-Blind Disorders + 66
                  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 + 11
                  cortical blindness + 80
                  visual impairment and progressive phthisis bulbi 1
paths to the root