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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:blindness
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Accession:DOID:1432 term browser browse the term
Definition:An eye disease characterized by a lack or loss of vision. (DO)
Synonyms:exact_synonym: Complete Blindness;   Hysterical Blindness;   acquired blindness;   amauroses;   amaurosis;   legal blindness;   monocular blindness;   transient blindness;   vision impairment;   vision loss
 narrow_synonym: antidepressant-induced visual impairment
 primary_id: MESH:D001766
 xref: EFO:0006323;   ICD10CM:H54;   ICD9CM:369
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:9973280 PMID:10958761 PMID:24938718 PMID:25312043 PMID:25741868 More... NCBI chr 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589 		JBrowse link
G AIPL1 aryl hydrocarbon receptor interacting protein like 1 susceptibility ISO RGD PMID:10873396 RGD:1599003 NCBI chr17:6,463,812...6,473,636
Ensembl chr17:6,450,420...6,461,868 		JBrowse link
G AQP4 aquaporin 4 ISO associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chr18:20,108,607...20,122,381
Ensembl chr18:23,713,146...23,726,919 		JBrowse link
G ARV1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25558065 PMID:25741868 PMID:27270415 NCBI chr 1:206,527,777...206,549,606
Ensembl chr 1:211,554,553...211,576,484 		JBrowse link
G ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chr2B:102,574,700...102,612,492
Ensembl chr2B:221,159,439...221,197,360 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:16909394 PMID:17345604 PMID:17564967 PMID:20683928 PMID:20690115 More... NCBI chr12:85,589,911...85,683,365
Ensembl chr12:88,896,146...88,988,044 		JBrowse link
G EFEMP1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chr2A:56,017,678...56,076,059
Ensembl chr2A:57,155,000...57,212,500 		JBrowse link
G LCA5 lebercilin LCA5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chr 6:77,366,248...77,418,718
Ensembl chr 6:80,636,181...80,688,609 		JBrowse link
G LOC100971960 unconventional myosin-XV induces ISO DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat)
compared to LEW/Ztm		 RGD PMID:21479269 RGD:150429616 NCBI chr17:32,661,499...32,723,320 JBrowse link
G RPE65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724 PMID:16226919 NCBI chr 1:67,666,784...67,687,891
Ensembl chr 1:69,623,775...69,644,904 		JBrowse link
G SLC7A14 solute carrier family 7 member 14 ISO MouseDO NCBI chr 3:167,473,566...167,599,271
Ensembl chr 3:175,662,571...175,728,590 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:15015129 PMID:15043528 PMID:15241801 PMID:15325563 PMID:16963483 More... NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216 		JBrowse link
G VEGFA vascular endothelial growth factor A ISO RGD PMID:23093773 RGD:11075234 NCBI chr 6:43,361,053...43,377,366
Ensembl chr 6:44,650,365...44,666,353 		JBrowse link
G VSX2 visual system homeobox 2 susceptibility ISO microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P RGD PMID:10932181 RGD:734779 NCBI chr14:54,797,734...54,821,081 JBrowse link
achromatopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:16199547 PMID:24033266 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725 		JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:25741868 PMID:28492532 More... NCBI chr11:62,813,477...62,820,425
Ensembl chr11:66,121,992...66,128,758 		JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 More... NCBI chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059 		JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 1:111,980,855...111,990,686
Ensembl chr 1:111,208,510...111,225,808 		JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:10393054 PMID:17576681 PMID:18614542 PMID:19615668 More... NCBI chr10:90,361,003...90,414,169
Ensembl chr10:93,871,704...93,924,654 		JBrowse link
Achromatopsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human) RGD PMID:18521937 RGD:9068452 NCBI chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 treatment ISO DNA:deletion: :c.1148delC (human) RGD PMID:17265047 PMID:21576125 RGD:9068446 RGD:9068450 NCBI chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059 		JBrowse link
achromatopsia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia 2 | ClinVar Annotator: match by term: Rod monochromacy 2 OMIM
ClinVar		 PMID:9536098 PMID:9662398 PMID:11536077 PMID:14715947 PMID:14757870 More... NCBI chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517 		JBrowse link
achromatopsia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNGB3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: Total colorblindness with myopia OMIM
ClinVar		 PMID:1347967 PMID:1572225 PMID:9536098 PMID:10888875 PMID:10958649 More... NCBI chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059 		JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAT2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia 4 OMIM
ClinVar		 PMID:12077706 PMID:12205108 PMID:15557429 PMID:18643908 PMID:20301591 More... NCBI chr 1:111,980,855...111,990,686
Ensembl chr 1:111,208,510...111,225,808 		JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:16199547 PMID:19615668 PMID:19887631 PMID:20301591 PMID:23776498 More... NCBI chr10:90,361,003...90,414,169
Ensembl chr10:93,871,704...93,924,654 		JBrowse link
achromatopsia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Achromatopsia 7 OMIM
ClinVar		 PMID:24824130 PMID:25741868 PMID:26029869 PMID:26063662 PMID:26070061 More... NCBI chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725 		JBrowse link
Amaurosis Fugax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP1 matrix metallopeptidase 1 ISO RGD PMID:15073384 RGD:1582361 NCBI chr11:97,730,545...97,739,190
Ensembl chr11:101,221,393...101,230,104 		JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chr19:45,872,596...45,876,376
Ensembl chr19:54,880,141...54,883,003 		JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 4:103,112,624...103,137,356 JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision OMIM
ClinVar		 PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:96,720,988...96,743,594
Ensembl chr  X:107,094,898...107,117,117 		JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant OMIM
ClinVar		 PMID:10521293 PMID:10679252 PMID:11244483 PMID:11295831 PMID:11709537 More... Ensembl chr 4:6,345,864...6,379,287 JBrowse link
blue color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OPN1SW opsin 1, short wave sensitive ISO ClinVar Annotator: match by term: Blue color blindness OMIM
ClinVar		 PMID:1386496 PMID:1531728 PMID:2937147 PMID:25605338 PMID:25741868 More... NCBI chr 7:120,724,363...120,727,649
Ensembl chr 7:133,246,131...133,251,464 		JBrowse link
color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:26029869 NCBI chr 1:137,178,629...137,382,256
Ensembl chr 1:140,977,750...141,176,725 		JBrowse link
G BDNF brain derived neurotrophic factor susceptibility ISO associated with Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human) RGD PMID:21640793 RGD:8655850 NCBI chr11:27,618,322...27,687,661
Ensembl chr11:27,520,312...27,589,239 		JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Color vision defect ClinVar PMID:11536077 PMID:17693388 PMID:20238023 PMID:25741868 PMID:26992781 More... NCBI chr2A:100,911,053...100,962,278
Ensembl chr2A:99,259,808...99,308,517 		JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:mutations		 CTD
RGD		 PMID:10958649 PMID:30418171 RGD:1600870 NCBI chr 8:83,269,589...83,439,999
Ensembl chr 8:85,238,043...85,407,059 		JBrowse link
G DMD dystrophin ISO ClinVar Annotator: match by term: Color vision defect ClinVar NCBI chr  X:23,728,650...26,338,849
Ensembl chr  X:31,282,415...33,492,733 		JBrowse link
G GNAT2 G protein subunit alpha transducin 2 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:12077706 RGD:1599034 NCBI chr 1:111,980,855...111,990,686
Ensembl chr 1:111,208,510...111,225,808 		JBrowse link
G PDE6H phosphodiesterase 6H ISO CTD Direct Evidence: marker/mechanism CTD PMID:25739440 NCBI chr12:14,890,192...14,984,542
Ensembl chr12:15,372,413...15,381,249 		JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:90,551,874...90,588,786
Ensembl chr  X:100,684,017...100,725,187 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Deafness dystonia syndrome OMIM
ClinVar		 PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... NCBI chr  X:90,548,212...90,551,534
Ensembl chr  X:100,680,224...100,683,544 		JBrowse link
Norrie disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FZD4 frizzled class receptor 4 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr11:81,973,680...82,007,733
Ensembl chr11:85,611,989...85,616,065 		JBrowse link
G NDP norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria OMIM
ClinVar		 PMID:1303235 PMID:1303264 PMID:1307245 PMID:7627181 PMID:7814011 More... NCBI chr  X:36,399,868...36,424,953
Ensembl chr  X:44,224,161...44,249,067 		JBrowse link
G PRSS23 serine protease 23 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:14507768 PMID:15035989 PMID:17955262 PMID:20340138 PMID:20938005 More... NCBI chr11:81,855,594...81,866,321 JBrowse link
G TSPAN12 tetraspanin 12 ISO ClinVar Annotator: match by term: Atrophia bulborum hereditaria ClinVar PMID:25250762 NCBI chr 7:112,790,606...112,861,730
Ensembl chr 7:125,478,472...125,549,091 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10H10orf105 chromosome 10 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:68,182,453...68,190,718 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr17:68,861,622...68,868,822
Ensembl chr17:74,419,769...74,424,794 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:68,218,230...68,243,687
Ensembl chr10:70,742,062...70,767,613 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:85,500,222...85,604,417
Ensembl chr 9:113,863,872...113,966,758 		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 APBB3 amyloid beta precursor protein binding family B member 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,922,662...135,928,995
Ensembl chr 5:142,039,818...142,046,157 		JBrowse link
G CD14 CD14 molecule ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,996,265...135,997,909
Ensembl chr 5:142,113,082...142,118,966 		JBrowse link
G CDC23 cell division cycle 23 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,566,022...133,591,528
Ensembl chr 5:139,699,421...139,724,991 		JBrowse link
G CDC25C cell division cycle 25C ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,663,210...133,717,974
Ensembl chr 5:139,795,565...139,842,698 		JBrowse link
G CTNNA1 catenin alpha 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,134,944...134,313,239
Ensembl chr 5:140,261,883...140,438,547 		JBrowse link
G CXXC5 CXXC finger protein 5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,015,148...135,050,736
Ensembl chr 5:141,152,849...141,171,158 		JBrowse link
G CYSTM1 cysteine rich transmembrane module containing 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,541,865...135,610,526
Ensembl chr 5:141,659,224...141,727,870 		JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 5:136,876,396...136,980,097 JBrowse link
G DNAJC18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,781,226...134,814,813
Ensembl chr 5:140,903,767...140,937,345 		JBrowse link
G DND1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,035,464...136,038,524
Ensembl chr 5:142,151,441...142,154,262 		JBrowse link
G ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,819,568...134,833,508
Ensembl chr 5:140,940,578...140,955,140 		JBrowse link
G EGR1 early growth response 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,845,305...133,849,291
Ensembl chr 5:139,975,635...139,979,260 		JBrowse link
G ETF1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,886,074...133,922,682
Ensembl chr 5:140,015,518...140,051,974 		JBrowse link
G FAM13B family with sequence similarity 13 member B ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,324,842...133,497,303
Ensembl chr 5:139,461,276...139,555,121 		JBrowse link
G GFRA3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,630,274...133,652,525
Ensembl chr 5:139,762,690...139,784,942 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,056,060...136,065,588
Ensembl chr 5:142,172,081...142,179,950 		JBrowse link
G HBEGF heparin binding EGF like growth factor ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,699,553...135,713,366
Ensembl chr 5:141,816,402...141,830,531 		JBrowse link
G HNRNPA0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,132,030...133,140,771
Ensembl chr 5:139,277,004...139,277,939 		JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,934,859...133,955,048
Ensembl chr 5:140,064,207...140,084,551 		JBrowse link
G IGIP IgA inducing protein ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,492,800...135,495,675
Ensembl chr 5:141,613,072...141,613,233 		JBrowse link
G IK IK cytokine ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,012,381...136,027,099
Ensembl chr 5:142,129,130...142,143,393 		JBrowse link
G KDM3B lysine demethylase 3B ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,732,400...133,816,988
Ensembl chr 5:139,863,922...139,947,895 		JBrowse link
G KIF20A kinesin family member 20A ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,557,456...133,566,089
Ensembl chr 5:139,690,517...139,699,446 		JBrowse link
G KLHL3 kelch like family member 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,005,563...133,276,087
Ensembl chr 5:139,147,793...139,248,919 		JBrowse link
G LOC100982175 protocadherin gamma-B1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,712,058...136,716,242 JBrowse link
G LOC100988774 protocadherin beta-7 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,526,139...136,538,754
Ensembl chr 5:142,649,791...142,652,172 		JBrowse link
G LOC100992160 protocadherin alpha-9 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,150,262...136,376,530
Ensembl chr 5:142,321,070...142,488,986 		JBrowse link
G LOC100992161 bromodomain-containing protein 8 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,535,321...133,557,304
Ensembl chr 5:139,652,112...139,690,468 		JBrowse link
G LOC100994239 protocadherin alpha-2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G LOC100995259 protocadherin alpha-7 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr 5:142,301,336...142,316,338 JBrowse link
G LOC103783390 protocadherin beta-10 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,545,793...136,558,895
Ensembl chr 5:142,664,256...142,671,880 		JBrowse link
G LRRTM2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,247,933...134,254,188 JBrowse link
G MATR3 matrin 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,664,893...134,702,566
Ensembl chr 5:140,788,709...140,825,064 		JBrowse link
G MYOT myotilin ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,254,644...133,274,615
Ensembl chr 5:139,386,101...139,411,960 		JBrowse link
G MZB1 marginal zone B and B1 cell specific protein ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,758,631...134,772,992
Ensembl chr 5:140,881,415...140,883,756 		JBrowse link
G NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,010,029...136,012,373 JBrowse link
G NME5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,493,930...133,517,906
Ensembl chr 5:139,628,678...139,651,372 		JBrowse link
G NRG2 neuregulin 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,212,496...135,411,469 JBrowse link
G PAIP2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,712,834...134,740,747
Ensembl chr 5:140,835,320...140,862,743 		JBrowse link
G PCDHA10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHA11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr 5:142,348,847...142,366,618 JBrowse link
G PCDHA12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHA13 protocadherin alpha 13 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHA3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr 5:142,280,707...142,283,181 JBrowse link
G PCDHA4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 Ensembl chr 5:142,286,433...142,289,088 JBrowse link
G PCDHAC1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHAC2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532
G PCDHB1 protocadherin beta 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,413,938...136,423,568
Ensembl chr 5:142,530,521...142,532,977 		JBrowse link
G PCDHB11 protocadherin beta 11 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,562,547...136,565,623 JBrowse link
G PCDHB12 protocadherin beta 12 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,569,617...136,575,312
Ensembl chr 5:142,685,863...142,688,272 		JBrowse link
G PCDHB13 protocadherin beta 13 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,575,453...136,579,906
Ensembl chr 5:142,691,101...142,693,392 		JBrowse link
G PCDHB14 protocadherin beta 14 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,584,741...136,589,504
Ensembl chr 5:142,700,427...142,712,829 		JBrowse link
G PCDHB15 protocadherin beta 15 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,605,233...136,611,147
Ensembl chr 5:142,721,472...142,723,835 		JBrowse link
G PCDHB2 protocadherin beta 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,458,253...136,463,369
Ensembl chr 5:142,572,690...142,574,838 		JBrowse link
G PCDHB3 protocadherin beta 3 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,463,492...136,467,739
Ensembl chr 5:142,578,291...142,580,681 		JBrowse link
G PCDHB4 protocadherin beta 4 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,484,686...136,489,194 JBrowse link
G PCDHB5 protocadherin beta 5 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,498,492...136,501,496
Ensembl chr 5:142,612,509...142,614,896 		JBrowse link
G PCDHB6 protocadherin beta 6 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,509,096...136,516,640
Ensembl chr 5:142,627,220...142,629,604 		JBrowse link
G PCDHB8 protocadherin beta 8 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,538,882...136,543,805
Ensembl chr 5:142,654,990...142,657,395 		JBrowse link
G PCDHB9 protocadherin beta 9 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,548,949...136,553,928 JBrowse link
G PCDHGB7 protocadherin gamma subfamily B, 7 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,779,117...136,782,629 JBrowse link
G PFDN1 prefoldin subunit 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,611,791...135,669,895
Ensembl chr 5:141,729,128...141,786,822 		JBrowse link
G PKD2L2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,276,223...133,329,712
Ensembl chr 5:139,416,606...139,459,732 		JBrowse link
G PROB1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,761,660...134,767,557
Ensembl chr 5:140,885,875...140,888,922 		JBrowse link
G PSD2 pleckstrin and Sec7 domain containing 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,162,701...135,211,389
Ensembl chr 5:141,294,395...141,329,952 		JBrowse link
G PURA purine rich element binding protein A ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,480,983...135,486,280
Ensembl chr 5:141,598,580...141,599,762 		JBrowse link
G REEP2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,819,005...133,826,930
Ensembl chr 5:139,949,903...139,959,112 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,325,451...134,573,398
Ensembl chr 5:140,450,891...140,628,703 		JBrowse link
G SLC23A1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,737,344...134,756,153
Ensembl chr 5:140,859,984...140,877,214 		JBrowse link
G SLC25A2 solute carrier family 25 member 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,664,485...136,666,344 JBrowse link
G SLC35A4 solute carrier family 35 member A4 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,928,922...135,933,498 JBrowse link
G SLC4A9 solute carrier family 4 member 9 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,725,067...135,750,666
Ensembl chr 5:141,844,078...141,861,739 		JBrowse link
G SPATA24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,767,828...134,775,171
Ensembl chr 5:140,890,610...140,897,927 		JBrowse link
G SPOCK1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:132,372,283...132,890,168
Ensembl chr 5:138,512,523...138,797,416 		JBrowse link
G SRA1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:135,914,506...135,922,704
Ensembl chr 5:142,032,119...142,039,188 		JBrowse link
G STING1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,845,689...134,852,938
Ensembl chr 5:140,967,399...140,973,846 		JBrowse link
G TAF7 TATA-box binding protein associated factor 7 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,680,554...136,682,862 JBrowse link
G TMCO6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,003,993...136,009,960
Ensembl chr 5:142,120,756...142,126,727 		JBrowse link
G UBE2D2 ubiquitin conjugating enzyme E2 D2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:134,927,150...134,995,298
Ensembl chr 5:141,048,385...141,115,842 		JBrowse link
G WDR55 WD repeat domain 55 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,029,221...136,037,015
Ensembl chr 5:142,145,749...142,152,992 		JBrowse link
G WNT8A Wnt family member 8A ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:133,419,324...133,471,094
Ensembl chr 5:139,598,229...139,605,926 		JBrowse link
G ZMAT2 zinc finger matrin-type 2 ISO ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome ClinVar PMID:28492532 NCBI chr 5:136,065,016...136,071,333
Ensembl chr 5:142,180,981...142,187,292 		JBrowse link
Usher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More... NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477 		JBrowse link
G ARSG arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr17:62,195,977...62,379,362
Ensembl chr17:67,588,347...67,768,454 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr2A:71,000,096...71,030,306
Ensembl chr2A:72,113,859...72,143,612 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr11:61,868,257...61,892,473
Ensembl chr11:65,192,355...65,216,274 		JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:195,629,262...195,663,144
Ensembl chr 1:200,667,016...200,699,790 		JBrowse link
G C10H10orf105 chromosome 10 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:68,182,453...68,190,718 JBrowse link
G C1H1orf115 chromosome 1 C1orf115 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:196,276,253...196,285,549 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G CEP250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 NCBI chr20:31,782,894...31,847,152
Ensembl chr20:32,903,536...32,959,714 		JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26214305 PMID:26426422 PMID:28492532 More... NCBI chr15:57,033,782...57,060,650
Ensembl chr15:75,998,797...76,025,485 		JBrowse link
G CLRN1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:7407589 PMID:15521980 PMID:17407589 PMID:17893653 PMID:19753315 More... NCBI chr 3:147,954,124...148,000,895
Ensembl chr 3:155,526,011...155,573,684 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr14:11,649,072...11,665,231
Ensembl chr14:29,848,611...29,868,943 		JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr19:44,828,119...44,856,284 JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:197,293,039...197,333,828
Ensembl chr 1:202,367,318...202,404,720 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:195,537,319...195,618,257
Ensembl chr 1:200,575,259...200,656,197 		JBrowse link
G ESRRG estrogen related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:192,074,260...192,667,610
Ensembl chr 1:196,929,197...197,153,195 		JBrowse link
G GPATCH2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:193,003,601...193,205,432
Ensembl chr 1:197,857,941...198,059,474 		JBrowse link
G GUCA1A guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chr 6:41,693,593...41,774,591
Ensembl chr 6:43,045,307...43,070,520 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371 		JBrowse link
G HHIPL2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:198,195,530...198,222,023
Ensembl chr 1:203,209,978...203,235,551 		JBrowse link
G HLX H2.0 like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:196,465,704...196,471,803
Ensembl chr 1:201,500,470...201,506,222 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:195,666,995...195,720,661
Ensembl chr 1:200,703,711...200,757,648 		JBrowse link
G LYPLAL1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:194,737,158...194,775,853
Ensembl chr 1:199,586,920...199,625,423 		JBrowse link
G MARK1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:196,114,714...196,251,166
Ensembl chr 1:201,150,310...201,286,201 		JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:196,373,028...196,405,115
Ensembl chr 1:201,407,390...201,435,186 		JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:196,333,803...196,371,147
Ensembl chr 1:201,369,424...201,405,602 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 4:10,405,299...10,519,518
Ensembl chr 4:15,702,159...15,815,454 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:195,720,895...195,842,619
Ensembl chr 1:200,757,097...200,878,819 		JBrowse link
G RRP15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:193,846,921...193,900,077
Ensembl chr 1:198,698,850...198,745,011 		JBrowse link
G SERPINB6 serpin family B member 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr 6:2,770,689...2,794,737
Ensembl chr 6:2,873,790...2,896,631 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:195,480,707...195,528,243
Ensembl chr 1:200,522,554...200,566,228 		JBrowse link
G SPATA17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:193,205,670...193,437,171
Ensembl chr 1:198,059,692...198,287,313 		JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:198,227,332...198,263,133
Ensembl chr 1:203,244,796...203,276,872 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041 		JBrowse link
G USH1C USH1 protein network component harmonin treatment ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome		 RGD
ClinVar		 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 More... RGD:8695937 NCBI chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr17:68,861,622...68,868,822
Ensembl chr17:74,419,769...74,424,794 		JBrowse link
G USH2A usherin susceptibility ISO DNA:snps, insertion:exon, intron:multiple (human)
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome		 RGD
ClinVar		 PMID:1968399 PMID:9536098 PMID:9624053 PMID:10090909 PMID:10729113 More... RGD:8547956 NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:85,500,222...85,604,417
Ensembl chr 9:113,863,872...113,966,758 		JBrowse link
G ZC3H11B zinc finger CCCH-type containing 11B ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:195,888,443...195,895,487 JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr11:61,887,816...61,905,130
Ensembl chr11:65,209,614...65,228,434 		JBrowse link
Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477 		JBrowse link
G C10H10orf105 chromosome 10 C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr10:68,182,453...68,190,718 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr15:57,033,782...57,060,650
Ensembl chr15:75,998,797...76,025,485 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 1:5,184,666...5,222,473 JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781 		JBrowse link
G USH1C USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1		 RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 NCBI chr17:68,861,622...68,868,822
Ensembl chr17:74,419,769...74,424,794 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216 		JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10H10orf105 chromosome 10 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:68,182,453...68,190,718 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G MYO7A myosin VIIA treatment ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety OMIM
ClinVar
RGD		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... RGD:8694151 NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 More... NCBI chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256 		JBrowse link
Usher syndrome type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10H10orf105 chromosome 10 C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr10:68,182,453...68,190,718 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:25991456 More... NCBI chr10:68,286,359...68,321,349
Ensembl chr10:70,810,881...70,828,781 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr10:68,218,230...68,243,687
Ensembl chr10:70,742,062...70,767,613 		JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chr17:68,861,622...68,868,822
Ensembl chr17:74,419,769...74,424,794 		JBrowse link
Usher syndrome type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 More... NCBI chr15:57,033,782...57,060,650
Ensembl chr15:75,998,797...76,025,485 		JBrowse link
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:5,184,666...5,222,473 JBrowse link
Usher syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 More... NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr11:72,187,024...72,265,931
Ensembl chr11:75,834,185...75,907,752 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 PMID:30311386 NCBI chr11:17,548,501...17,598,923
Ensembl chr11:17,233,854...17,284,256 		JBrowse link
G USH2A usherin susceptibility ISO DNA:snp:intron:c.7595-2144A>G (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
DNA:mutations:multiple (human)
DNA:insertion, deletions, snps:multiple (human)		 RGD
ClinVar		 PMID:9536098 PMID:10729113 PMID:10738000 PMID:10909849 PMID:11311042 More... RGD:8547952 RGD:8547962 RGD:8547965 RGD:8547985 NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216 		JBrowse link
Usher syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr 1:191,138,755...191,193,352
Ensembl chr 1:195,992,842...196,051,606 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr10:97,608,969...97,632,508
Ensembl chr10:101,085,370...101,107,034 		JBrowse link
G USH2A usherin susceptibility ISO ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:mutations:multiple (human)
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)		 OMIM
ClinVar
RGD		 PMID:1968399 PMID:2525289 PMID:9536098 PMID:9624053 PMID:10090909 More... RGD:8547961 RGD:8547987 NCBI chr 1:191,193,130...191,994,664
Ensembl chr 1:196,048,086...196,850,216 		JBrowse link
Usher syndrome type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic OMIM
ClinVar		 PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477 		JBrowse link
G CNKSR1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:25741868 NCBI chr 1:25,438,092...25,450,953
Ensembl chr 1:26,505,513...26,517,225 		JBrowse link
G CRYGC crystallin gamma C ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr2B:95,359,514...95,361,201
Ensembl chr2B:213,482,830...213,484,517 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:21900877 PMID:25741868 PMID:28492532 NCBI chr 4:45,650,346...46,138,222
Ensembl chr 4:51,500,396...51,981,476 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 More... NCBI chr10:97,608,969...97,632,508
Ensembl chr10:101,085,370...101,107,034 		JBrowse link
G SLC4A7 solute carrier family 4 member 7 ISO OMIM:605472 MouseDO NCBI chr 3:27,261,155...27,373,223
Ensembl chr 3:27,591,639...27,670,815 		JBrowse link
G WDR36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr 5:106,461,658...106,499,837
Ensembl chr 5:112,264,403...112,302,549 		JBrowse link
Usher syndrome type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WHRN whirlin ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D OMIM
ClinVar		 PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 More... NCBI chr 9:85,500,222...85,604,417
Ensembl chr 9:113,863,872...113,966,758 		JBrowse link
Usher syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... NCBI chr 3:147,954,124...148,000,895
Ensembl chr 3:155,526,011...155,573,684 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371 		JBrowse link
Usher syndrome type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN1 clarin 1 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A OMIM
ClinVar		 PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... NCBI chr 3:147,954,124...148,000,895
Ensembl chr 3:155,526,011...155,573,684 		JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DND1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr 5:136,035,464...136,038,524
Ensembl chr 5:142,151,441...142,154,262 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22930593 More... NCBI chr 5:136,038,575...136,056,400
Ensembl chr 5:142,154,552...142,172,371 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr 5:136,056,060...136,065,588
Ensembl chr 5:142,172,081...142,179,950 		JBrowse link
Usher Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSG arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome, type 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 More... NCBI chr17:62,195,977...62,379,362
Ensembl chr17:67,588,347...67,768,454 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Usher syndrome, type 4 ClinVar PMID:28492532 PMID:33300174 NCBI chr17:62,448,718...62,488,493
Ensembl chr17:67,838,484...67,877,943 		JBrowse link
Usher Syndrome, Type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:14740321 PMID:15671307 PMID:19357117 PMID:22135276 PMID:22147658 More... NCBI chr 5:24,208,844...24,811,284
Ensembl chr 5:24,341,808...24,945,477 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 NCBI chr10:97,608,969...97,632,508
Ensembl chr10:101,085,370...101,107,034 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:12075507 PMID:15537665 PMID:15660226 PMID:24033266 PMID:25741868 More... NCBI chr10:67,866,979...68,286,008
Ensembl chr10:70,434,801...70,810,240 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr10:50,452,290...52,236,538
Ensembl chr10:52,666,969...53,536,611 		JBrowse link
visual impairment and progressive phthisis bulbi term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARK3 microtubule affinity regulating kinase 3 ISO ClinVar Annotator: match by term: Visual impairment and progressive phthisis bulbi OMIM
ClinVar		 PMID:25741868 PMID:29771303 NCBI chr14:84,012,076...84,130,136
Ensembl chr14:103,823,900...103,941,529 		JBrowse link
Webb-Dattani Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 ISO ClinVar Annotator: match by term: Webb-Dattani syndrome OMIM
ClinVar		 PMID:24022475 PMID:25741868 PMID:28492532 NCBI chr15:59,376,993...59,573,925 JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:1,354,806...1,393,244
Ensembl chr 4:1,238,984...1,266,822 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:1,125,623...1,142,884
Ensembl chr 4:1,045,583...1,059,936 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:1,953,033...1,994,958
Ensembl chr 4:1,862,788...1,900,901 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr 4:2,009,276...2,119,182
Ensembl chr 4:1,945,307...2,027,425 		JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr 1:138,743,251...138,777,201
Ensembl chr 1:142,538,420...142,572,364 		JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome ClinVar PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 More... Ensembl chr 4:6,345,864...6,379,287 JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 OMIM
ClinVar		 PMID:1161832 PMID:3387915 PMID:9771706 PMID:9817917 PMID:9856492 More... Ensembl chr 4:6,345,864...6,379,287 JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CISD2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More... NCBI chr 4:95,251,920...95,313,404
Ensembl chr 4:105,954,880...105,975,142 		JBrowse link
G SLC9B1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 4:95,324,597...95,475,599
Ensembl chr 4:105,971,131...106,071,773 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    sensory system disease 6115
      eye disease 2861
        blindness 178
          Amaurosis Fugax 2
          Deaf-Blind Disorders + 67
          Hemianopsia 0
          Microcephaly Microphthalmos Blindness 0
          Norrie disease 4
          Polycystic Kidney, Cataract, and Congenital Blindness 0
          Retinal Aplasia 0
          Rodrigues Blindness 0
          Scoliosis, Arachnodactyly, and Blindness 0
          Webb-Dattani Syndrome 1
          Yemenite Deaf-Blind Hypopigmentation Syndrome 0
          color blindness + 10
          cortical blindness + 83
          visual impairment and progressive phthisis bulbi 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 14463
      nervous system disease 12318
        Neurologic Manifestations 6002
          Sensation Disorders 1110
            Vision Disorders 241
              blindness 178
                Amaurosis Fugax 2
                Deaf-Blind Disorders + 67
                Hemianopsia 0
                Microcephaly Microphthalmos Blindness 0
                Norrie disease 4
                Polycystic Kidney, Cataract, and Congenital Blindness 0
                Retinal Aplasia 0
                Rodrigues Blindness 0
                Scoliosis, Arachnodactyly, and Blindness 0
                Webb-Dattani Syndrome 1
                Yemenite Deaf-Blind Hypopigmentation Syndrome 0
                color blindness + 10
                cortical blindness + 83
                visual impairment and progressive phthisis bulbi 1
paths to the root