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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 IAGP ClinVar Annotator: match by term: Legal blindness ClinVar PMID:9973280 PMID:10958761 PMID:24938718 PMID:25312043 PMID:25741868 More... NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 susceptibility IAGP RGD PMID:10873396 RGD:1599003 NCBI chr17:6,423,738...6,435,121
Ensembl chr17:6,393,693...6,435,199
JBrowse link
G AQP4 aquaporin 4 IDA associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator IAGP ClinVar Annotator: match by term: Blindness ClinVar PMID:25558065 PMID:25741868 PMID:27270415 NCBI chr 1:230,979,094...231,000,733
Ensembl chr 1:230,978,981...231,000,733
JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase EXP CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773
JBrowse link
G CEP290 centrosomal protein 290 IAGP ClinVar Annotator: match by term: Blindness ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 More... NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 IAGP ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr 2:55,865,967...55,923,782
Ensembl chr 2:55,865,967...55,924,139
JBrowse link
G LCA5 lebercilin LCA5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chr 6:79,484,991...79,538,782
Ensembl chr 6:79,484,991...79,537,458
JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673
JBrowse link
G MYO15A myosin XVA induces ISO DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat) RGD PMID:21479269 RGD:150429616 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802
JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 EXP CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724 PMID:16226919 NCBI chr 1:68,428,822...68,449,954
Ensembl chr 1:68,428,822...68,449,954
JBrowse link
G SLC7A14 solute carrier family 7 member 14 ISS MouseDO NCBI chr 3:170,459,548...170,586,075
Ensembl chr 3:170,459,548...170,586,075
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Legal blindness ClinVar PMID:15015129 PMID:15043528 PMID:15241801 PMID:15325563 PMID:16963483 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:23093773 RGD:11075234 NCBI chr 6:43,770,209...43,786,487
Ensembl chr 6:43,770,184...43,786,487
JBrowse link
G VSX2 visual system homeobox 2 susceptibility IAGP microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P RGD PMID:10932181 RGD:734779 NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738
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 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
JBrowse link
G CABP4 calcium binding protein 4 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 More... NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 More... NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP
ISS
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:25741868 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
G PDE6C phosphodiesterase 6C IAGP
ISS
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 More... NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
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 IAGP 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 chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 treatment IAGP
IMP
ISO
DNA:deletion: :c.1148delC (human) RGD PMID:17265047 PMID:21576125 PMID:21576125 RGD:9068446, RGD:9068450, RGD:9068450 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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 IAGP ClinVar Annotator: match by term: Achromatopsia 2
ClinVar Annotator: match by term: Rod monochromacy 2
ClinVar
OMIM
PMID:9536098 PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 More... NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
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 IAGP ClinVar Annotator: match by term: Achromatopsia 3
ClinVar Annotator: match by term: Total colorblindness with myopia
ClinVar
OMIM
PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
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 IAGP ClinVar Annotator: match by term: Achromatopsia 4 ClinVar
OMIM
PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:20301591 More... NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE6C phosphodiesterase 6C IAGP ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:16199547 PMID:19615668 PMID:19887631 PMID:20301591 PMID:23776498 More... NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
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 IAGP ClinVar Annotator: match by term: Achromatopsia 7 ClinVar
OMIM
PMID:24824130 PMID:25741868 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
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 IDA RGD PMID:15073384 RGD:1582361 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chr19:48,872,421...48,876,058
Ensembl chr19:48,872,212...48,876,059
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 IAGP DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP ClinVar Annotator: match by term: Arts syndrome
ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision
ClinVar
OMIM
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993
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 IAGP ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar
OMIM
PMID:10521293 PMID:10679252 PMID:11244483 PMID:11295831 PMID:11709537 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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 IAGP ClinVar Annotator: match by term: Tritanopia ClinVar
OMIM
PMID:1386496 PMID:1531728 PMID:2937147 PMID:25605338 PMID:25741868 More... NCBI chr 7:128,772,485...128,775,794
Ensembl chr 7:128,772,485...128,775,794
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, long wave sensitive IAGP ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type
ClinVar Annotator: match by term: Blue cone monochromacy
ClinVar
OMIM
PMID:1881435 PMID:8666378 PMID:8792812 PMID:15094734 PMID:25741868 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032
JBrowse link
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Cone dystrophy 5, X-linked
ClinVar Annotator: match by term: Blue cone monochromacy
ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY
ClinVar
OMIM
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:15094734 More... NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
G OPSIN-LCR opsin locus control region IAGP ClinVar Annotator: match by term: Color blindness blue mono cone monochromatic type ClinVar NCBI chr  X:154,137,727...154,144,286 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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
JBrowse link
G BDNF brain derived neurotrophic factor susceptibility IAGP associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) RGD PMID:21640793 RGD:8655850 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP
EXP
ClinVar Annotator: match by term: Color vision defect
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:11536077 PMID:17693388 PMID:20238023 PMID:25741868 PMID:26992781 More... RGD:734792 NCBI chr 2:98,346,456...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 susceptibility IAGP
EXP
DNA:mutations
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:30418171 PMID:10958649 RGD:1600870 NCBI chr 8:86,574,179...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
G DMD dystrophin IAGP ClinVar Annotator: match by term: Color vision defect ClinVar NCBI chr  X:31,119,222...33,339,388
Ensembl chr  X:31,097,677...33,339,609
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:12077706 PMID:12077706 RGD:1599034 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,091...109,619,929
JBrowse link
G PDE6H phosphodiesterase 6H EXP CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr12:14,973,042...14,981,865
Ensembl chr12:14,973,042...14,981,865
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 IAGP ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796
JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP
EXP
DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
ClinVar Annotator: match by term: Mohr-Tranebjaerg syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)
ClinVar
CTD
OMIM
RGD
PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742
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 ISS
IAGP
OMIM:310600
ClinVar Annotator: match by term: Atrophia bulborum hereditaria
MouseDO
ClinVar
PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G NDP norrin cystine knot growth factor NDP IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar
OMIM
PMID:1303235 PMID:1303264 PMID:1307245 PMID:7627181 PMID:7814011 More... NCBI chr  X:43,948,776...43,973,390
Ensembl chr  X:43,948,776...43,973,395
JBrowse link
G NDP-AS1 NDP antisense RNA 1 IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:1303235 PMID:1303264 PMID:1307245 PMID:7627181 PMID:7814011 More... NCBI chr  X:43,949,732...43,971,552
Ensembl chr  X:43,949,732...43,971,582
JBrowse link
G PRSS23 serine protease 23 IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr11:86,791,071...86,952,910
Ensembl chr11:86,791,059...86,952,910
JBrowse link
G TSPAN12 tetraspanin 12 IAGP ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr 7:120,787,320...120,858,335
Ensembl chr 7:120,787,320...120,858,402
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, long wave sensitive IAGP ClinVar Annotator: match by term: Protan defect OMIM
ClinVar
PMID:8666378 PMID:12051694 PMID:15094734 PMID:25741868 NCBI chr  X:154,144,243...154,159,032
Ensembl chr  X:154,144,243...154,159,032
JBrowse link
red-green color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1MW opsin 1, medium wave sensitive IAGP ClinVar Annotator: match by term: Colorblindness, partial, deutan series
ClinVar Annotator: match by term: DEUTERANOPIA
ClinVar
OMIM
PMID:1302020 PMID:2788922 PMID:8666378 PMID:11772996 PMID:12051694 More... NCBI chr  X:154,182,596...154,196,861
Ensembl chr  X:154,182,596...154,196,861
JBrowse link
G OPN1MW2 opsin 1, medium wave sensitive 2 IAGP ClinVar Annotator: match by term: Deuteranopia ClinVar PMID:25741868 NCBI chr  X:154,219,756...154,233,286
Ensembl chr  X:154,219,756...154,233,286
JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP ClinVar Annotator: match by term: Rp21 ClinVar PMID:9792552 PMID:10090882 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265
JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
JBrowse link
G USH1C USH1 protein network component harmonin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366
JBrowse link
G VSIR V-set immunoregulatory receptor IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520
JBrowse link
G WHRN whirlin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473
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 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,401,833...140,539,849
Ensembl chr 5:140,401,814...140,539,856
JBrowse link
G ANKHD1-EIF4EBP3 ANKHD1-EIF4EBP3 readthrough IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,401,833...140,549,576
Ensembl chr 5:140,401,908...140,549,569
JBrowse link
G APBB3 amyloid beta precursor protein binding family B member 3 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,558,268...140,564,598
Ensembl chr 5:140,558,268...140,564,781
JBrowse link
G BRD8 bromodomain containing 8 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,139,770...138,178,630
Ensembl chr 5:138,139,770...138,178,953
JBrowse link
G CD14 CD14 molecule IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,631,732...140,633,701
Ensembl chr 5:140,631,728...140,633,700
JBrowse link
G CDC23 cell division cycle 23 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,187,650...138,213,323
Ensembl chr 5:138,187,650...138,213,343
JBrowse link
G CDC25C cell division cycle 25C IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,285,265...138,338,355
Ensembl chr 5:138,285,269...138,338,355
JBrowse link
G CTNNA1 catenin alpha 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,753,425...138,935,034
Ensembl chr 5:138,610,967...138,935,034
JBrowse link
G CXXC5 CXXC finger protein 5 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,647,299...139,683,882
Ensembl chr 5:139,647,299...139,683,882
JBrowse link
G CYSTM1 cysteine rich transmembrane module containing 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,175,188...140,243,789
Ensembl chr 5:140,175,156...140,282,052
JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar
OMIM
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055
JBrowse link
G DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,410,203...139,439,525
Ensembl chr 5:139,408,588...139,444,491
JBrowse link
G DND1 DND microRNA-mediated repression inhibitor 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,670,794...140,673,576
Ensembl chr 5:140,670,794...140,673,576
JBrowse link
G ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,448,560...139,462,743
Ensembl chr 5:139,448,560...139,462,743
JBrowse link
G EGR1 early growth response 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,465,479...138,469,303
Ensembl chr 5:138,465,479...138,469,303
JBrowse link
G EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,547,662...140,549,576
Ensembl chr 5:140,547,662...140,549,576
JBrowse link
G ETF1 eukaryotic translation termination factor 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,506,095...138,543,236
Ensembl chr 5:138,506,095...138,543,236
JBrowse link
G FAM13B family with sequence similarity 13 member B IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:137,937,960...138,052,178
Ensembl chr 5:137,937,960...138,051,961
JBrowse link
G FAM53C family with sequence similarity 53 member C IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,337,557...138,349,729
Ensembl chr 5:138,331,935...138,349,729
JBrowse link
G GFRA3 GDNF family receptor alpha 3 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,252,380...138,274,621
Ensembl chr 5:138,252,380...138,274,621
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305
JBrowse link
G HBEGF heparin binding EGF like growth factor IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,332,843...140,346,603
Ensembl chr 5:140,332,843...140,346,603
JBrowse link
G HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:137,745,651...137,754,363
Ensembl chr 5:137,745,651...137,754,363
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
JBrowse link
G IGIP IgA inducing protein IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,125,937...140,129,392
Ensembl chr 5:140,125,937...140,129,392
JBrowse link
G IK IK cytokine IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,647,829...140,662,480
Ensembl chr 5:140,647,058...140,662,480
JBrowse link
G KDM3B lysine demethylase 3B IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,352,685...138,437,027
Ensembl chr 5:138,352,685...138,437,028
JBrowse link
G KIF20A kinesin family member 20A IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,179,112...138,187,723
Ensembl chr 5:138,178,719...138,187,723
JBrowse link
G KLHL3 kelch like family member 3 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:137,617,500...137,736,089
Ensembl chr 5:137,617,500...137,736,089
JBrowse link
G LRRTM2 leucine rich repeat transmembrane neuronal 2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,868,921...138,875,335
Ensembl chr 5:138,868,921...138,875,368
JBrowse link
G MATR3 matrin 3 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,274,101...139,331,677
Ensembl chr 5:139,273,752...139,331,671
Ensembl chr 5:139,273,752...139,331,671
JBrowse link
G MYOT myotilin IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:137,867,860...137,887,851
Ensembl chr 5:137,867,858...137,887,851
JBrowse link
G MZB1 marginal zone B and B1 cell specific protein IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,387,467...139,389,913
Ensembl chr 5:139,387,467...139,390,081
JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,645,285...140,647,630
Ensembl chr 5:140,638,740...140,647,771
JBrowse link
G NME5 NME/NM23 family member 5 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,115,175...138,139,428
Ensembl chr 5:138,115,175...138,139,443
JBrowse link
G NRG2 neuregulin 2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,846,781...140,043,299
Ensembl chr 5:139,846,779...140,043,299
JBrowse link
G PAIP2 poly(A) binding protein interacting protein 2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,341,854...139,369,717
Ensembl chr 5:139,341,587...139,369,720
JBrowse link
G PCDHA1 protocadherin alpha 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,786,136...141,012,347
Ensembl chr 5:140,786,136...141,012,347
JBrowse link
G PCDHA10 protocadherin alpha 10 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,855,897...141,012,347
Ensembl chr 5:140,855,883...141,012,347
JBrowse link
G PCDHA11 protocadherin alpha 11 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,867,513...141,012,347
Ensembl chr 5:140,868,183...141,012,347
JBrowse link
G PCDHA12 protocadherin alpha 12 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,875,308...141,012,347
Ensembl chr 5:140,875,302...141,012,347
JBrowse link
G PCDHA13 protocadherin alpha 13 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,882,124...141,012,347
Ensembl chr 5:140,882,124...141,012,347
JBrowse link
G PCDHA2 protocadherin alpha 2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,794,852...141,012,347
Ensembl chr 5:140,794,852...141,012,347
JBrowse link
G PCDHA3 protocadherin alpha 3 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,801,057...141,012,347
Ensembl chr 5:140,801,028...141,012,347
JBrowse link
G PCDHA4 protocadherin alpha 4 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,807,068...141,012,347
Ensembl chr 5:140,806,929...141,012,347
JBrowse link
G PCDHA5 protocadherin alpha 5 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,821,613...141,012,347
Ensembl chr 5:140,821,604...141,012,347
JBrowse link
G PCDHA6 protocadherin alpha 6 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,827,960...141,012,347
Ensembl chr 5:140,827,958...141,012,347
JBrowse link
G PCDHA7 protocadherin alpha 7 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,834,269...141,012,347
Ensembl chr 5:140,834,248...141,012,347
JBrowse link
G PCDHA8 protocadherin alpha 8 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,841,187...141,012,347
Ensembl chr 5:140,841,187...141,012,347
JBrowse link
G PCDHA9 protocadherin alpha 9 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,847,772...141,012,347
Ensembl chr 5:140,847,772...141,012,347
JBrowse link
G PCDHA@ protocadherin alpha cluster, complex locus IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,786,136...141,012,344 JBrowse link
G PCDHAC1 protocadherin alpha subfamily C, 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,926,299...141,012,347
Ensembl chr 5:140,926,299...141,012,347
JBrowse link
G PCDHAC2 protocadherin alpha subfamily C, 2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,966,476...141,012,347
Ensembl chr 5:140,966,470...141,012,347
JBrowse link
G PCDHB1 protocadherin beta 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,051,374...141,059,346
Ensembl chr 5:141,051,374...141,059,346
JBrowse link
G PCDHB10 protocadherin beta 10 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,192,353...141,195,647
Ensembl chr 5:141,192,353...141,195,647
JBrowse link
G PCDHB11 protocadherin beta 11 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,199,627...141,203,779
Ensembl chr 5:141,199,610...141,203,779
JBrowse link
G PCDHB12 protocadherin beta 12 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,208,719...141,212,571
Ensembl chr 5:141,208,697...141,212,571
JBrowse link
G PCDHB13 protocadherin beta 13 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,213,919...141,218,979
Ensembl chr 5:141,213,919...141,218,979
JBrowse link
G PCDHB14 protocadherin beta 14 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,223,343...141,227,759
Ensembl chr 5:141,223,343...141,227,759
JBrowse link
G PCDHB15 protocadherin beta 15 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,245,395...141,249,365
Ensembl chr 5:141,245,395...141,249,365
JBrowse link
G PCDHB16 protocadherin beta 16 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,182,387...141,186,226
Ensembl chr 5:141,182,387...141,186,226
JBrowse link
G PCDHB2 protocadherin beta 2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,094,615...141,098,703
Ensembl chr 5:141,094,606...141,098,703
JBrowse link
G PCDHB3 protocadherin beta 3 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,100,473...141,103,827
Ensembl chr 5:141,100,473...141,103,827
JBrowse link
G PCDHB4 protocadherin beta 4 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,121,818...141,125,623
Ensembl chr 5:141,121,818...141,125,623
JBrowse link
G PCDHB5 protocadherin beta 5 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,135,206...141,138,615
Ensembl chr 5:141,135,206...141,138,615
JBrowse link
G PCDHB6 protocadherin beta 6 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,150,057...141,153,287
Ensembl chr 5:141,150,057...141,153,287
JBrowse link
G PCDHB7 protocadherin beta 7 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,172,644...141,176,383
Ensembl chr 5:141,172,644...141,176,383
JBrowse link
G PCDHB8 protocadherin beta 8 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,177,790...141,180,539
Ensembl chr 5:141,177,790...141,180,539
JBrowse link
G PCDHB9 protocadherin beta 9 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,187,161...141,191,541
Ensembl chr 5:141,187,127...141,191,541
JBrowse link
G PCDHB@ protocadherin beta cluster IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,051,394...141,248,234 JBrowse link
G PCDHGA1 protocadherin gamma subfamily A, 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,330,514...141,512,975
Ensembl chr 5:141,330,514...141,512,975
JBrowse link
G PCDHGA10 protocadherin gamma subfamily A, 10 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,412,987...141,512,975
Ensembl chr 5:141,412,987...141,512,975
JBrowse link
G PCDHGA11 protocadherin gamma subfamily A, 11 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,421,051...141,512,975
Ensembl chr 5:141,421,047...141,512,975
JBrowse link
G PCDHGA12 protocadherin gamma subfamily A, 12 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,430,507...141,512,975
Ensembl chr 5:141,430,507...141,512,975
JBrowse link
G PCDHGA2 protocadherin gamma subfamily A, 2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,338,760...141,512,975
Ensembl chr 5:141,338,760...141,512,975
JBrowse link
G PCDHGA3 protocadherin gamma subfamily A, 3 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,343,829...141,512,975
Ensembl chr 5:141,343,829...141,512,975
JBrowse link
G PCDHGA4 protocadherin gamma subfamily A, 4 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,355,021...141,512,975
Ensembl chr 5:141,355,021...141,512,975
JBrowse link
G PCDHGA5 protocadherin gamma subfamily A, 5 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,364,162...141,512,975
Ensembl chr 5:141,364,162...141,512,975
JBrowse link
G PCDHGA6 protocadherin gamma subfamily A, 6 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,373,891...141,512,975
Ensembl chr 5:141,373,891...141,512,975
JBrowse link
G PCDHGA7 protocadherin gamma subfamily A, 7 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,382,742...141,512,975
Ensembl chr 5:141,382,739...141,512,975
JBrowse link
G PCDHGA8 protocadherin gamma subfamily A, 8 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,392,633...141,512,975
Ensembl chr 5:141,390,157...141,512,975
JBrowse link
G PCDHGA9 protocadherin gamma subfamily A, 9 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,402,778...141,512,975
Ensembl chr 5:141,402,778...141,512,975
JBrowse link
G PCDHGB1 protocadherin gamma subfamily B, 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,350,099...141,512,975
Ensembl chr 5:141,350,099...141,512,975
JBrowse link
G PCDHGB2 protocadherin gamma subfamily B, 2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,359,994...141,512,975
Ensembl chr 5:141,359,994...141,512,975
JBrowse link
G PCDHGB3 protocadherin gamma subfamily B, 3 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,370,242...141,512,975
Ensembl chr 5:141,370,242...141,512,975
JBrowse link
G PCDHGB4 protocadherin gamma subfamily B, 4 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,387,698...141,512,975
Ensembl chr 5:141,387,698...141,512,975
JBrowse link
G PCDHGB5 protocadherin gamma subfamily B, 5 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,397,947...141,512,975
Ensembl chr 5:141,397,947...141,512,975
JBrowse link
G PCDHGB6 protocadherin gamma subfamily B, 6 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,408,021...141,512,975
Ensembl chr 5:141,408,021...141,512,975
JBrowse link
G PCDHGB7 protocadherin gamma subfamily B, 7 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,417,677...141,512,975
Ensembl chr 5:141,417,645...141,512,975
JBrowse link
G PCDHGC3 protocadherin gamma subfamily C, 3 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,475,966...141,512,975
Ensembl chr 5:141,475,947...141,512,977
JBrowse link
G PCDHGC4 protocadherin gamma subfamily C, 4 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,485,030...141,512,975
Ensembl chr 5:141,484,997...141,512,975
JBrowse link
G PCDHGC5 protocadherin gamma subfamily C, 5 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,489,081...141,512,975
Ensembl chr 5:141,489,081...141,512,975
JBrowse link
G PFDN1 prefoldin subunit 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,245,035...140,303,101
Ensembl chr 5:140,245,035...140,303,113
JBrowse link
G PKD2L2 polycystin 2 like 2, transient receptor potential cation channel IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:137,889,457...137,942,747
Ensembl chr 5:137,887,968...137,942,747
JBrowse link
G PROB1 proline rich basic protein 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,390,592...139,395,104
Ensembl chr 5:139,390,592...139,395,104
JBrowse link
G PSD2 pleckstrin and Sec7 domain containing 2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,742,475...139,844,466
Ensembl chr 5:139,795,808...139,844,466
JBrowse link
G PURA purine rich element binding protein A IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619
JBrowse link
G REEP2 receptor accessory protein 2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,439,057...138,446,965
Ensembl chr 5:138,439,057...138,446,969
JBrowse link
G SIL1 SIL1 nucleotide exchange factor IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,946,724...139,198,368
Ensembl chr 5:138,946,724...139,293,557
JBrowse link
G SLC23A1 solute carrier family 23 member 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,367,196...139,385,676
Ensembl chr 5:139,367,196...139,384,553
JBrowse link
G SLC25A2 solute carrier family 25 member 2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,302,635...141,304,049
Ensembl chr 5:141,302,635...141,304,049
JBrowse link
G SLC35A4 solute carrier family 35 member A4 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,564,828...140,569,100
Ensembl chr 5:140,564,446...140,569,100
JBrowse link
G SLC4A9 solute carrier family 4 member 9 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,360,194...140,375,141
Ensembl chr 5:140,360,194...140,375,141
JBrowse link
G SNHG4 small nucleolar RNA host gene 4 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,273,752...139,283,184
Ensembl chr 5:139,274,102...139,284,899
JBrowse link
G SPATA24 spermatogenesis associated 24 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,392,500...139,404,089
Ensembl chr 5:139,396,563...139,404,089
JBrowse link
G SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,975,298...137,499,326
Ensembl chr 5:136,975,298...137,598,379
JBrowse link
G SRA1 steroid receptor RNA activator 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,550,067...140,558,093
Ensembl chr 5:140,537,340...140,557,677
JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,475,533...139,482,758
Ensembl chr 5:139,475,533...139,482,935
JBrowse link
G TAF7 TATA-box binding protein associated factor 7 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:141,318,490...141,320,784
Ensembl chr 5:141,259,884...141,320,784
JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,596,530...140,647,732
Ensembl chr 5:140,639,435...140,645,408
JBrowse link
G UBE2D2 ubiquitin conjugating enzyme E2 D2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:139,526,240...139,628,434
Ensembl chr 5:139,526,431...139,628,434
JBrowse link
G VTRNA1-1 vault RNA 1-1 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,711,276...140,711,373
Ensembl chr 5:140,711,275...140,711,373
JBrowse link
G VTRNA1-2 vault RNA 1-2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,718,926...140,719,013
Ensembl chr 5:140,718,925...140,719,013
JBrowse link
G VTRNA1-3 vault RNA 1-3 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,726,159...140,726,246
Ensembl chr 5:140,726,158...140,726,246
JBrowse link
G WDR55 WD repeat domain 55 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,664,904...140,672,345
Ensembl chr 5:140,664,868...140,674,124
JBrowse link
G WNT8A Wnt family member 8A IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:138,077,367...138,092,365
Ensembl chr 5:138,083,990...138,092,365
JBrowse link
G ZMAT2 zinc finger matrin-type 2 IAGP ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:140,700,447...140,706,686
Ensembl chr 5:140,698,680...140,706,686
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 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More... NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G AL049830.3 novel transcript, antisense to COCH IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808
JBrowse link
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
JBrowse link
G ARSG arylsulfatase G IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731
JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,057,482...220,089,788
Ensembl chr 1:220,057,482...220,090,462
JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP 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 PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
JBrowse link
G C1orf115 chromosome 1 open reading frame 115 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,690,363...220,699,153
Ensembl chr 1:220,690,363...220,699,153
JBrowse link
G CDH23 cadherin related 23 TAS
IAGP
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
RGD
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... RGD:8547536 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
JBrowse link
G CEP250 centrosomal protein 250 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 NCBI chr20:35,455,165...35,519,280
Ensembl chr20:35,455,164...35,519,280
JBrowse link
G CIB2 calcium and integrin binding family member 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26214305 PMID:26426422 PMID:28492532 More... NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
JBrowse link
G CLRN1 clarin 1 TAS
IAGP
ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD
PMID:7407589 PMID:15521980 PMID:17407589 PMID:17893653 PMID:19753315 More... RGD:8547535 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065
JBrowse link
G CRX cone-rod homeobox IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330
JBrowse link
G DUSP10 dual specificity phosphatase 10 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,701,424...221,742,089
Ensembl chr 1:221,701,424...221,742,089
JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530
JBrowse link
G ESRRG estrogen related receptor gamma IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:216,503,246...217,137,702
Ensembl chr 1:216,503,246...217,137,755
JBrowse link
G GPATCH2 G-patch domain containing 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,426,992...217,631,090
Ensembl chr 1:217,426,992...217,631,090
JBrowse link
G GUCA1A guanylate cyclase activator 1A IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chr 6:42,173,364...42,180,056
Ensembl chr 6:42,173,364...42,181,338
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G HHIPL2 HHIP like 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,522,264...222,548,104
Ensembl chr 1:222,522,258...222,548,104
JBrowse link
G HLX H2.0 like homeobox IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,879,443...220,885,059
Ensembl chr 1:220,879,431...220,885,059
JBrowse link
G HLX-AS1 HLX antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,832,763...220,880,140
Ensembl chr 1:220,832,763...220,880,140
JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041
JBrowse link
G LINC00210 long intergenic non-protein coding RNA 210 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,892,900...217,920,804
Ensembl chr 1:217,892,900...217,920,804
JBrowse link
G LINC01352 long intergenic non-protein coding RNA 1352 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,829,255...220,832,429
Ensembl chr 1:220,829,255...220,832,429
JBrowse link
G LINC01653 long intergenic non-protein coding RNA 1653 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,043,505...218,059,140
Ensembl chr 1:218,043,505...218,059,140
JBrowse link
G LINC01655 long intergenic non-protein coding RNA 1655 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,827,666...221,840,666
Ensembl chr 1:221,819,842...221,840,717
JBrowse link
G LINC01710 long intergenic non-protein coding RNA 1710 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,912,757...218,918,511
Ensembl chr 1:218,912,757...218,918,714
JBrowse link
G LINC02257 long intergenic non-protein coding RNA 2257 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,913,645...221,978,520
Ensembl chr 1:221,880,981...221,978,523
JBrowse link
G LINC02474 long intergenic non-protein coding RNA 2474 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,966,410...221,984,964
Ensembl chr 1:221,966,341...221,984,964
JBrowse link
G LINC02779 long intergenic non-protein coding RNA 2779 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,483,165...220,487,618
Ensembl chr 1:220,485,104...220,487,558
JBrowse link
G LINC02817 long intergenic non-protein coding RNA 2817 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,329,928...221,336,296
Ensembl chr 1:221,330,080...221,336,489
JBrowse link
G LINC02869 long intergenic non-protein coding RNA 2869 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,510,095...218,525,978
Ensembl chr 1:218,459,265...218,525,978
JBrowse link
G LOC107325941 1q41 HERV-mediated proximal recombination region IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,973,078...221,978,506 JBrowse link
G LOC110121042 VISTA enhancer hs1257 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,034,090...218,035,156 JBrowse link
G LOC111429604 FOXA motif-containing MPRA enhancer 201 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,715,591...221,715,735 JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,805,832...71,806,126 JBrowse link
G LOC118142757 GUCA1ANB-GUCA1A readthrough IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chr 6:42,155,406...42,180,056
Ensembl chr 6:42,155,406...42,181,338
JBrowse link
G LOC120908907 Sharpr-MPRA regulatory region 1545 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,048,367...217,048,661 JBrowse link
G LOC120908908 Sharpr-MPRA regulatory region 8131 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,459,927...218,460,221 JBrowse link
G LOC120908909 Sharpr-MPRA regulatory region 297 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,661,087...219,661,381 JBrowse link
G LOC120908910 Sharpr-MPRA regulatory region 12019 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,769,127...220,769,421 JBrowse link
G LOC121725074 Sharpr-MPRA regulatory region 9893 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,928,587...219,928,881 JBrowse link
G LOC122152296 Sharpr-MPRA regulatory region 8762 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:10729113 PMID:10909849 PMID:15241801 PMID:16098008 PMID:16963483 More... NCBI chr 1:216,246,727...216,247,021 JBrowse link
G LOC122152297 Sharpr-MPRA regulatory region 11696 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,134,607...217,134,901 JBrowse link
G LOC122152298 Sharpr-MPRA regulatory region 1921 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,453,727...217,454,021 JBrowse link
G LOC122152299 Sharpr-MPRA regulatory region 7160 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,554,847...217,555,141 JBrowse link
G LOC122152300 Sharpr-MPRA regulatory region 6480 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,674,327...218,674,621 JBrowse link
G LOC122152301 Sharpr-MPRA regulatory region 2527 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,330,747...219,331,041 JBrowse link
G LOC122152302 Sharpr-MPRA regulatory region 1437 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,516,027...220,516,321 JBrowse link
G LOC122152303 Sharpr-MPRA regulatory region 4850 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,634,627...221,634,921 JBrowse link
G LYPLAL1 lysophospholipase like 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,173,878...219,445,496
Ensembl chr 1:219,173,869...219,212,865
JBrowse link
G LYPLAL1-AS1 LYPLAL1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,435,158...219,557,324
Ensembl chr 1:219,409,039...219,459,369
JBrowse link
G LYPLAL1-DT LYPLAL1 divergent transcript IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,080,973...219,173,788
Ensembl chr 1:218,976,672...219,173,961
JBrowse link
G MARK1 microtubule affinity regulating kinase 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,528,136...220,664,461
Ensembl chr 1:220,528,136...220,664,461
JBrowse link
G MIR194-1 microRNA 194-1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,118,157...220,118,241
Ensembl chr 1:220,118,157...220,118,241
JBrowse link
G MIR215 microRNA 215 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,117,853...220,117,962
Ensembl chr 1:220,117,853...220,117,962
JBrowse link
G MIR548F1 microRNA 548f-1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:54,607,874...54,607,957
Ensembl chr10:54,607,874...54,607,957
JBrowse link
G MIR664A microRNA 664a IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,200,538...220,200,619
Ensembl chr 1:220,200,538...220,200,619
JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,786,913...220,819,659
Ensembl chr 1:220,786,352...220,819,659
JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,748,322...220,784,815
Ensembl chr 1:220,748,225...220,784,815
JBrowse link
G MYO7A myosin VIIA TAS
IAGP
EXP
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 Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... RGD:8547536 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G PCDH15 protocadherin related 15 TAS
IAGP
EXP
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... RGD:8547536 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G PROM1 prominin 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378
JBrowse link
G PSAP prosaposin IAGP 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 chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529
JBrowse link
G RRP15 ribosomal RNA processing 15 homolog IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,285,293...218,337,983
Ensembl chr 1:218,285,293...218,337,983
JBrowse link
G SERPINB6 serpin family B member 6 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr 6:2,948,159...2,971,793
Ensembl chr 6:2,948,159...2,972,165
JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018
JBrowse link
G SNORA36B small nucleolar RNA, H/ACA box 36B IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,200,546...220,200,676
Ensembl chr 1:220,200,546...220,200,676
JBrowse link
G SPATA17 spermatogenesis associated 17 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,631,344...217,871,696
Ensembl chr 1:217,631,324...217,871,696
JBrowse link
G SPATA17-AS1 SPATA17 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,781,198...217,785,120
Ensembl chr 1:217,781,198...217,785,120
JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,554,105...222,589,933
Ensembl chr 1:222,557,902...222,589,933
JBrowse link
G TAF1A-AS1 TAF1A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,589,920...222,592,633
Ensembl chr 1:222,589,825...222,593,843
JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGFB2-AS1 TGFB2 antisense RNA 1 (head to head) IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,344,196...218,345,678
Ensembl chr 1:218,344,190...218,346,036
JBrowse link
G TGFB2-OT1 TGFB2 overlapping transcript 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,442,626...218,443,995
Ensembl chr 1:218,442,626...218,443,996
JBrowse link
G TRT-TGT2-1 tRNA-Thr (anticodon TGT) 2-1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,465,005...222,465,077 JBrowse link
G USH1C USH1 protein network component harmonin treatment TAS
IAGP
IMP
ISO
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
DNA:mutations:cds:
ClinVar
RGD
PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 More... RGD:8547536, RGD:8695937, RGD:8695939, RGD:8694458, RGD:8694457 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
G USH1G USH1 protein network component sans TAS
IAGP
ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD
PMID:20212494 RGD:8547536 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
JBrowse link
G USH2A usherin susceptibility TAS
IAGP
ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher's syndrome
ClinVar Annotator: match by term: Hallgren syndrome
DNA:snps, insertion:exon, intron:multiple (human)
ClinVar
RGD
PMID:1968399 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 More... RGD:8547535, RGD:8547956 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:10729113 PMID:10909849 PMID:15325563 PMID:16963483 PMID:18641288 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366
JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:10729113 PMID:10909849 PMID:16199547 PMID:18273898 PMID:18641288 More... NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917
JBrowse link
G WHRN whirlin IAGP ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473
JBrowse link
G ZC3H11B zinc finger CCCH-type containing 11B IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,608,012...219,613,105
Ensembl chr 1:219,608,012...219,613,105
JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr11:66,520,625...66,546,048
Ensembl chr11:66,520,637...66,546,235
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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:16199547 PMID:18429043 More... NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
JBrowse link
G CIB2 calcium and integrin binding family member 2 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
JBrowse link
G ESPN espin IAGP ClinVar Annotator: match by term: Usher syndrome, type 1 ClinVar PMID:29572253 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367
JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11138009 PMID:16199547 PMID:21940737 PMID:24033266 PMID:25741868 More... NCBI chr10:71,805,832...71,806,126 JBrowse link
G MYO7A myosin VIIA IAGP
ISS
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
OMIM:276900
ClinVar
MouseDO
RGD
PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... RGD:8694152 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
JBrowse link
G USH1C USH1 protein network component harmonin onset IAGP DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(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:deletion:exon:c.1220delG(human)
ClinVar
RGD
PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695918, RGD:8695921, RGD:8695919 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Usher syndrome, type 1
ClinVar Annotator: match by term: Usher syndrome type 1
ClinVar Annotator: match by term: Usher Syndrome Type I
ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26927203 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366
JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Usher syndrome, type 1B
ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,805,832...71,806,126 JBrowse link
G MYO7A myosin VIIA treatment IAGP
ISO
IDA
DNA:mutations: :multiple
ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Usher syndrome, type 1B
DNA:nonsense mutation
ClinVar
OMIM
RGD
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... RGD:8694135, RGD:1581470, RGD:8694151, RGD:8694151, RGD:8694137 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G PSAP prosaposin IAGP 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 chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
JBrowse link
G USH1C USH1 protein network component harmonin EXP
IAGP
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 More... NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
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 IAGP
EXP
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)
ClinVar Annotator: match by term: Usher syndrome type 1C
ClinVar Annotator: match by term: Usher syndrome, type 1C
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:1600453 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
JBrowse link
G CDH23 cadherin related 23 ISO
IAGP
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar
OMIM
RGD
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... RGD:8662279 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar PMID:12075507 PMID:15537665 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,805,832...71,806,126 JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar
OMIM
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
JBrowse link
G VSIR V-set immunoregulatory receptor IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520
JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1F ClinVar PMID:11398101 PMID:11487575 PMID:14570705 PMID:24033266 PMID:25741868 More... NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1F
ClinVar Annotator: match by term: Usher syndrome type 1F
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF
ClinVar
OMIM
PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
JBrowse link
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 IAGP ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Usher syndrome type 1G
ClinVar Annotator: match by term: Usher syndrome, type 1G
ClinVar Annotator: match by term: USH1G-Related Disorders
OMIM
ClinVar
PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
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 IAGP
EXP
ClinVar Annotator: match by term: Usher syndrome type 1J
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 More... NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
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 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE 1M
ClinVar Annotator: match by term: Usher syndrome, type 1M
OMIM
ClinVar
PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367
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 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 More... NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr10:71,805,832...71,806,126 JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G USH1C USH1 protein network component harmonin IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 PMID:30311386 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
G USH2A usherin susceptibility IAGP DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:mutations: :multiple
DNA:snp:intron:c.7595-2144A>G (human)
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human)
ClinVar
RGD
PMID:9536098 PMID:10729113 PMID:10738000 PMID:10909849 PMID:11311042 More... RGD:8547952, RGD:8694137, RGD:8547985, RGD:8547965, RGD:8547962 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366
JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:9536098 PMID:10729113 PMID:10909849 PMID:16199547 PMID:17576681 More... NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917
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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2A ClinVar PMID:21681106 NCBI chr 1:215,567,304...215,621,807
Ensembl chr 1:215,567,304...215,621,807
JBrowse link
G LOC122152296 Sharpr-MPRA regulatory region 8762 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2A
ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar PMID:10729113 PMID:10909849 PMID:15241801 PMID:16098008 PMID:16963483 More... NCBI chr 1:216,246,727...216,247,021 JBrowse link
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA
ClinVar Annotator: match by term: Usher syndrome, type 2A
OMIM
ClinVar
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
JBrowse link
G USH2A usherin susceptibility IAGP
EXP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: Usher syndrome, type 2A
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
ClinVar
CTD
OMIM
RGD
PMID:1968399 PMID:2525289 PMID:9536098 PMID:9624053 PMID:10090909 More... RGD:8547961, RGD:8547987 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2A
ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar PMID:9536098 PMID:9624053 PMID:10729113 PMID:10909849 PMID:11311042 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366
JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2A
ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar PMID:9536098 PMID:10729113 PMID:10909849 PMID:16199547 PMID:17085681 More... NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917
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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2C
ClinVar Annotator: match by term: Usher syndrome type 2C
ClinVar Annotator: match by term: Usher syndrome type 2c, GPR98/PDZD digenic
ClinVar
OMIM
PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G CNKSR1 connector enhancer of kinase suppressor of Ras 1 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2C ClinVar PMID:25741868 NCBI chr 1:26,177,491...26,189,884
Ensembl chr 1:26,177,484...26,189,884
JBrowse link
G CRYGC crystallin gamma C IAGP ClinVar Annotator: match by term: Usher syndrome, type 2C ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:208,128,137...208,129,828
Ensembl chr 2:208,128,137...208,129,828
JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2C ClinVar PMID:21900877 PMID:25741868 PMID:28492532 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269
JBrowse link
G LOC100507443 uncharacterized LOC100507443 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2C ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:208,119,129...208,156,762 JBrowse link
G LOC123497934 Sharpr-MPRA regulatory region 3426 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:19357116 NCBI chr 5:90,983,092...90,983,386 JBrowse link
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: Usher syndrome type 2c, GPR98/PDZD digenic
ClinVar Annotator: match by term: Usher syndrome type 2C
ClinVar Annotator: match by term: Usher syndrome, type 2C
ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
ClinVar
OMIM
PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 More... NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
JBrowse link
G SLC4A7 solute carrier family 4 member 7 ISS OMIM:605472 MouseDO NCBI chr 3:27,372,723...27,484,384
Ensembl chr 3:27,372,721...27,484,420
JBrowse link
G WDR36 WD repeat domain 36 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr 5:111,092,348...111,130,502
Ensembl chr 5:111,092,321...111,130,502
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 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID
ClinVar Annotator: match by term: Usher syndrome type 2D
ClinVar Annotator: match by term: Usher syndrome, type 2D
ClinVar
OMIM
PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 More... NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473
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 IAGP
ISS
ClinVar Annotator: match by term: Usher Syndrome, Type III
ClinVar Annotator: match by term: Usher syndrome type 3
ClinVar Annotator: match by term: Usher syndrome, type 3
ClinVar
MouseDO
PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
JBrowse link
G CLRN1-AS1 CLRN1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher Syndrome, Type III ClinVar PMID:12080385 PMID:12145752 PMID:14569126 PMID:16028794 PMID:18281613 More... NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Usher Syndrome, Type III ClinVar PMID:28492532 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
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 IAGP ClinVar Annotator: match by term: Usher syndrome type 3A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA
ClinVar Annotator: match by term: Usher syndrome, type 3A
ClinVar
OMIM
RGD
PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... RGD:634439 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727
JBrowse link
G CLRN1-AS1 CLRN1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome, type 3A ClinVar PMID:12080385 PMID:12145752 PMID:14569126 PMID:16028794 PMID:18281613 More... NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726
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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 3B ClinVar PMID:28492532 NCBI chr 5:140,670,794...140,673,576
Ensembl chr 5:140,670,794...140,673,576
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Usher syndrome, type 3B
ClinVar Annotator: match by term: Usher syndrome type 3B
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22930593 More... NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Usher syndrome, type 3B ClinVar PMID:28492532 NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305
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 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE IV
ClinVar Annotator: match by term: Usher syndrome, type 4
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 More... NCBI chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Usher syndrome, type 4 ClinVar PMID:28492532 PMID:33300174 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:14740321 PMID:15671307 PMID:19357117 PMID:22135276 PMID:22147658 More... NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
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 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:12075507 PMID:15537665 PMID:15660226 PMID:24033266 PMID:25741868 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:12075507 PMID:15537665 PMID:28492532 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
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 IAGP ClinVar Annotator: match by term: VISUAL IMPAIRMENT AND PROGRESSIVE PHTHISIS BULBI
ClinVar Annotator: match by term: Visual impairment and progressive phthisis bulbi
ClinVar
OMIM
PMID:25741868 PMID:29771303 NCBI chr14:103,385,415...103,503,831
Ensembl chr14:103,385,377...103,503,831
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 IAGP ClinVar Annotator: match by term: Webb-Dattani syndrome ClinVar
OMIM
PMID:24022475 PMID:25741868 PMID:28492532 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933
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 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr 1:163,321,954...163,355,759
Ensembl chr 1:163,266,576...163,355,764
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 IAGP DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP
ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 More... RGD:1599813 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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 IAGP 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 chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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
IAGP
EXP
ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)
ClinVar
CTD
OMIM
RGD
PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045601, RGD:10045603 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807
JBrowse link
G SLC9B1 solute carrier family 9 member B1 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 4:102,885,049...103,019,705
Ensembl chr 4:102,885,048...103,019,719
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 22373
    sensory system disease 7353
      eye disease 3430
        blindness 270
          Amaurosis Fugax 2
          Deaf-Blind Disorders + 118
          Hemianopsia 0
          Microcephaly Microphthalmos Blindness 0
          Norrie disease 5
          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 + 14
          cortical blindness + 118
          visual impairment and progressive phthisis bulbi 1
Path 2
Term Annotations click to browse term
  disease 22373
    disease of anatomical entity 20910
      nervous system disease 16734
        Neurologic Manifestations 7499
          Sensation Disorders 1464
            Vision Disorders 339
              blindness 270
                Amaurosis Fugax 2
                Deaf-Blind Disorders + 118
                Hemianopsia 0
                Microcephaly Microphthalmos Blindness 0
                Norrie disease 5
                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 + 14
                cortical blindness + 118
                visual impairment and progressive phthisis bulbi 1
paths to the root