Send us a Message



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

RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:Sensation Disorders
go back to main search page
Accession:DOID:9003045 term browser browse the term
Definition:Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM).
Synonyms:exact_synonym: Sensation Disorder;   Sensory Disorder;   Sensory Disorders;   Special Senses Disorder;   Special Senses Disorders
 primary_id: MESH:D012678;   RDO:0001889
For additional species annotation, visit the Alliance of Genome Resources.


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
 
Sensation Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdyn prodynorphin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19200067 NCBI chrNW_004955415:13,106,087...13,119,497
Ensembl chrNW_004955415:13,106,062...13,119,515
JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serac1 serine active site containing 1 ISO OMIM NCBI chrNW_004955439:4,234,440...4,291,947
Ensembl chrNW_004955439:4,234,382...4,291,941
JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO OMIM NCBI chrNW_004955529:541,057...573,486
Ensembl chrNW_004955529:553,738...573,388
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 chrNW_004955462:14,352,956...14,553,299
Ensembl chrNW_004955462:14,357,945...14,548,543
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807 PMID:23714322 PMID:25307992 PMID:28492532 PMID:29525873 More... NCBI chrNW_004955422:18,023,639...18,028,845
Ensembl chrNW_004955422:18,023,639...18,028,845
JBrowse link
G Cnga3 cyclic nucleotide gated channel subunit alpha 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9662398 PMID:11536077 PMID:14757870 PMID:15712225 PMID:16961972 More... NCBI chrNW_004955470:4,884,054...4,907,151
Ensembl chrNW_004955470:4,884,309...4,906,902
JBrowse link
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967 PMID:1572225 PMID:10888875 PMID:10958649 PMID:11124331 More... NCBI chrNW_004955417:4,164,328...4,288,516
Ensembl chrNW_004955417:4,168,766...4,300,437
JBrowse link
G Gnat2 G protein subunit alpha transducin 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chrNW_004955435:13,009,147...13,021,968
Ensembl chrNW_004955435:13,009,147...13,021,968
JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9536098 PMID:10393054 PMID:16199547 PMID:17576681 PMID:18614542 More... NCBI chrNW_004955507:129,678...179,586
Ensembl chrNW_004955507:129,678...179,305
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 chrNW_004955470:4,884,054...4,907,151
Ensembl chrNW_004955470:4,884,309...4,906,902
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 chrNW_004955417:4,164,328...4,288,516
Ensembl chrNW_004955417:4,168,766...4,300,437
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 OMIM NCBI chrNW_004955470:4,884,054...4,907,151
Ensembl chrNW_004955470:4,884,309...4,906,902
JBrowse link
achromatopsia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cngb3 cyclic nucleotide gated channel subunit beta 3 ISO OMIM NCBI chrNW_004955417:4,164,328...4,288,516
Ensembl chrNW_004955417:4,168,766...4,300,437
JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat2 G protein subunit alpha transducin 2 ISO OMIM NCBI chrNW_004955435:13,009,147...13,021,968
Ensembl chrNW_004955435:13,009,147...13,021,968
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19615668 PMID:19887631 PMID:21127010 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955507:129,678...179,586
Ensembl chrNW_004955507:129,678...179,305
JBrowse link
achromatopsia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf6 activating transcription factor 6 ISO OMIM NCBI chrNW_004955462:14,352,956...14,553,299
Ensembl chrNW_004955462:14,357,945...14,548,543
JBrowse link
Amaurosis Fugax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1r15a protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chrNW_004955559:1,750,227...1,753,607
Ensembl chrNW_004955559:1,750,168...1,753,629
JBrowse link
amblyopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppargc1a PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chrNW_004955480:543,397...1,188,376
Ensembl chrNW_004955480:1,078,322...1,188,435
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868 NCBI chrNW_004955465:3,877,896...3,900,259
Ensembl chrNW_004955465:3,882,549...3,898,929
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:16470708 PMID:18414213 PMID:18711368 PMID:19459882 PMID:20803644 More... NCBI chrNW_004955553:2,367,476...2,376,704
Ensembl chrNW_004955553:2,367,480...2,376,704
JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmu tRNA mitochondrial 2-thiouridylase ISO OMIM NCBI chrNW_004955413:30,440,014...30,453,860
Ensembl chrNW_004955413:30,440,282...30,453,860
JBrowse link
Anosmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chrNW_004955413:24,300,340...24,309,798
Ensembl chrNW_004955413:24,300,340...24,311,166
JBrowse link
G Smchd1 structural maintenance of chromosomes flexible hinge domain containing 1 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:8723126 PMID:28067909 NCBI chrNW_004955402:7,544,265...7,661,191
Ensembl chrNW_004955402:7,544,265...7,649,067
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Anosmia ClinVar PMID:25741868 NCBI chrNW_004955413:24,313,311...24,323,112
Ensembl chrNW_004955413:24,311,783...24,323,315
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chrNW_004955457:15,803,493...15,823,193
Ensembl chrNW_004955457:15,803,219...15,823,310
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO OMIM NCBI chrNW_004955490:8,303,775...8,330,713 JBrowse link
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO OMIM NCBI chrNW_004955410:28,788,245...28,790,971
Ensembl chrNW_004955410:28,787,817...28,790,962
JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar NCBI chrNW_004955410:28,794,878...28,798,231
Ensembl chrNW_004955410:28,794,878...28,798,231
JBrowse link
Auditory Neuropathy and Optic Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO OMIM NCBI chrNW_004955553:1,746,759...1,755,316
Ensembl chrNW_004955553:1,746,670...1,755,315
JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph3 diaphanous related formin 3 ISO OMIM NCBI chrNW_004955404:44,653,308...45,106,943
Ensembl chrNW_004955404:44,653,501...45,105,966
JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO OMIM NCBI chrNW_004955495:1,465,529...1,505,379
Ensembl chrNW_004955495:1,465,480...1,505,462
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO OMIM NCBI chrNW_004955403:43,860,811...43,886,398
Ensembl chrNW_004955403:43,860,728...43,886,732
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO OMIM NCBI chrNW_004955474:2,254,842...2,259,303 JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:23967202 PMID:24033266 More... NCBI chrNW_004955559:796,455...856,082
Ensembl chrNW_004955559:797,107...853,053
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO OMIM NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chrNW_004955561:1,727,935...1,851,907
Ensembl chrNW_004955561:1,727,935...1,851,907
JBrowse link
G Diablo diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chrNW_004955482:6,354,502...6,364,424
Ensembl chrNW_004955482:6,354,146...6,365,344
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chrNW_004955402:9,865,934...10,204,990
Ensembl chrNW_004955402:10,104,225...10,201,479
JBrowse link
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chrNW_004955410:32,790,720...33,257,760
Ensembl chrNW_004955410:32,792,649...33,257,291
JBrowse link
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment
ClinVar PMID:30872814 PMID:31397523 NCBI chrNW_004955508:3,215,304...3,324,240
Ensembl chrNW_004955508:3,213,646...3,260,554
JBrowse link
autosomal dominant nonsyndromic deafness 1 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: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:118,577...126,021
Ensembl chrNW_004955418:120,119...125,711
JBrowse link
G Brd8 bromodomain containing 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:2,232,853...2,275,812
Ensembl chrNW_004955418:2,232,842...2,275,875
JBrowse link
G Cd14 CD14 molecule ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:73,736...75,345
Ensembl chrNW_004955418:73,897...75,224
JBrowse link
G Cdc23 cell division cycle 23 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:2,194,937...2,221,928
Ensembl chrNW_004955418:2,194,689...2,221,928
JBrowse link
G Cdc25c cell division cycle 25C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:2,114,053...2,138,513 JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,592,555...1,754,423
Ensembl chrNW_004955418:1,592,229...1,754,689
JBrowse link
G Cxxc5 CXXC finger protein 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:932,198...965,894
Ensembl chrNW_004955418:929,444...965,894
JBrowse link
G Cystm1 cysteine rich transmembrane module containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:415,703...475,796
Ensembl chrNW_004955418:415,703...475,796
JBrowse link
G Diaph1 diaphanous related formin 1 ISO OMIM NCBI chrNW_004955415:12,156,152...12,272,961
Ensembl chrNW_004955415:12,156,152...12,272,961
JBrowse link
G Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,119,699...1,149,891
Ensembl chrNW_004955418:1,124,616...1,149,891
JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:30,795...33,394
Ensembl chrNW_004955418:30,893...32,936
JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,108,805...1,116,338 JBrowse link
G Egr1 early growth response 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:2,001,509...2,005,269
Ensembl chrNW_004955418:2,002,699...2,005,007
JBrowse link
G Etf1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,943,233...1,974,241 JBrowse link
G Fam13b family with sequence similarity 13 member B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:2,378,423...2,454,959
Ensembl chrNW_004955418:2,378,423...2,454,959
JBrowse link
G Gfra3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:2,152,887...2,162,883
Ensembl chrNW_004955418:2,143,169...2,163,286
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:19,346...30,514
Ensembl chrNW_004955418:19,346...30,514
JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:12,550...19,282
Ensembl chrNW_004955418:12,550...19,282
JBrowse link
G Hbegf heparin binding EGF like growth factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:259,860...321,340
Ensembl chrNW_004955418:309,096...321,387
JBrowse link
G Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955408:32,718,736...32,719,409 JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,915,985...1,931,017
Ensembl chrNW_004955418:1,915,985...1,931,017
JBrowse link
G Igip IgA inducing protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:527,380...536,136 JBrowse link
G Ik IK cytokine ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:39,695...52,862
Ensembl chrNW_004955418:39,695...52,862
JBrowse link
G Kdm3b lysine demethylase 3B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:2,026,254...2,098,223
Ensembl chrNW_004955418:2,026,254...2,098,223
JBrowse link
G Kif20a kinesin family member 20A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:2,222,398...2,232,775
Ensembl chrNW_004955418:2,222,398...2,232,775
JBrowse link
G Klhl3 kelch like family member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955408:32,596,497...32,719,967
Ensembl chrNW_004955408:32,596,497...32,721,059
JBrowse link
G Lrrtm2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,636,906...1,643,430
Ensembl chrNW_004955418:1,636,828...1,643,588
JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,213,503...1,269,755 JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955408:32,816,133...32,835,230
Ensembl chrNW_004955408:32,790,095...32,838,258
JBrowse link
G Mzb1 marginal zone B and B1 cell specific protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,170,365...1,172,581
Ensembl chrNW_004955418:1,170,365...1,172,581
JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:52,952...55,060
Ensembl chrNW_004955418:52,952...55,060
JBrowse link
G Nme5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:2,282,721...2,301,997
Ensembl chrNW_004955418:2,282,574...2,302,106
JBrowse link
G Nrg2 neuregulin 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:548,624...793,861 JBrowse link
G Paip2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,189,822...1,208,559
Ensembl chrNW_004955418:1,189,822...1,208,559
JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955611:363,566...396,184 JBrowse link
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955611:229,711...242,740 JBrowse link
G Pcdhb1 protocadherin beta 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955611:104,824...131,744
Ensembl chrNW_004955611:104,824...131,744
JBrowse link
G Pfdn1 prefoldin subunit 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:351,078...414,292 JBrowse link
G Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:2,443,557...2,488,860
Ensembl chrNW_004955418:2,439,773...2,488,916
JBrowse link
G Prob1 proline rich basic protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,163,993...1,169,968 JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:793,960...848,550
Ensembl chrNW_004955418:795,825...849,088
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:538,883...548,605 JBrowse link
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:2,018,891...2,024,545
Ensembl chrNW_004955418:2,018,891...2,024,456
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,322,644...1,583,352
Ensembl chrNW_004955418:1,392,985...1,583,376
JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,176,390...1,192,270
Ensembl chrNW_004955418:1,176,000...1,186,940
JBrowse link
G Slc35a4 solute carrier family 35 member A4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:114,916...116,878
Ensembl chrNW_004955418:115,895...116,863
JBrowse link
G Slc4a9 solute carrier family 4 member 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:273,383...288,675
Ensembl chrNW_004955418:269,598...288,145
JBrowse link
G Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,157,089...1,163,897
Ensembl chrNW_004955418:1,157,089...1,165,636
JBrowse link
G Spock1 SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955408:31,954,622...32,465,463
Ensembl chrNW_004955408:31,957,882...32,465,461
JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:126,111...133,498
Ensembl chrNW_004955418:126,726...133,316
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:1,091,022...1,097,064
Ensembl chrNW_004955418:1,083,613...1,100,448
JBrowse link
G Taf7 TATA-box binding protein associated factor 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955415:12,453,655...12,456,070
Ensembl chrNW_004955415:12,453,655...12,456,070
JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:55,110...61,670
Ensembl chrNW_004955418:55,110...61,705
JBrowse link
G Ube2d2 ubiquitin conjugating enzyme E2 D2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:990,124...1,043,544
Ensembl chrNW_004955418:989,802...1,006,262
JBrowse link
G Wdr55 WD repeat domain 55 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:33,237...37,676
Ensembl chrNW_004955418:33,648...37,556
JBrowse link
G Wnt8a Wnt family member 8A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:2,332,636...2,338,099
Ensembl chrNW_004955418:2,332,636...2,338,085
JBrowse link
G Zmat2 zinc finger matrin-type 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chrNW_004955418:4,335...10,844
Ensembl chrNW_004955418:1,633...10,844
JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO OMIM NCBI chrNW_004955436:13,710,366...13,982,379
Ensembl chrNW_004955436:13,709,806...13,982,380
JBrowse link
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO OMIM NCBI chrNW_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500
JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO OMIM NCBI chrNW_004955412:22,062,618...22,132,037
Ensembl chrNW_004955412:22,062,618...22,131,442
JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO OMIM NCBI chrNW_004955437:1,739,426...1,767,087
Ensembl chrNW_004955437:1,740,402...1,766,490
JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU class 4 homeobox 3 ISO OMIM NCBI chrNW_004955415:7,777,296...7,778,622
Ensembl chrNW_004955415:7,777,114...7,778,622
JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 NCBI chrNW_004955416:10,139,420...10,141,906 JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin heavy chain 9 ISO OMIM NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450
JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin gamma 1 ISO OMIM NCBI chrNW_004955506:1,546,678...1,549,611
Ensembl chrNW_004955506:1,546,678...1,552,105
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO OMIM NCBI chrNW_004955502:4,219,067...4,356,988
Ensembl chrNW_004955502:4,218,885...4,356,988
JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six1 SIX homeobox 1 ISO OMIM NCBI chrNW_004955466:8,961,597...8,966,069
Ensembl chrNW_004955466:8,961,597...8,966,069
JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a8 solute carrier family 17 member 8 ISO OMIM NCBI chrNW_004955405:36,063,688...36,115,312
Ensembl chrNW_004955405:36,063,688...36,115,312
JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead like transcription factor 2 ISO OMIM NCBI chrNW_004955417:26,401,337...26,533,297
Ensembl chrNW_004955417:26,401,363...26,533,297
JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO OMIM NCBI chrNW_004955537:624,217...671,407
Ensembl chrNW_004955537:624,217...674,330
JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein beta 3 ISO OMIM NCBI chrNW_004955452:12,892,687...12,896,290
Ensembl chrNW_004955452:12,892,687...12,896,290
JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family pyrin domain containing 3 ISO OMIM NCBI chrNW_004955581:597,952...616,903
Ensembl chrNW_004955581:597,667...617,410
JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc1 transmembrane channel like 1 ISO OMIM NCBI chrNW_004955434:398,734...500,378
Ensembl chrNW_004955434:398,829...529,810
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO OMIM NCBI chrNW_004955435:7,352,617...7,545,235
Ensembl chrNW_004955435:7,352,617...7,545,235
JBrowse link
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO OMIM NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb6 gap junction protein beta 6 ISO OMIM NCBI chrNW_004955497:1,018,610...1,027,593
Ensembl chrNW_004955497:1,018,610...1,027,360
JBrowse link
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crym crystallin mu ISO OMIM NCBI chrNW_004955493:443,956...460,041
Ensembl chrNW_004955493:443,532...460,133
JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2rx2 purinergic receptor P2X 2 ISO OMIM NCBI chrNW_004955482:418,101...422,058
Ensembl chrNW_004955482:419,213...421,583
JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc50 coiled-coil domain containing 50 ISO OMIM NCBI chrNW_004955420:16,884,985...16,948,038
Ensembl chrNW_004955420:16,891,217...16,948,008
JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1a myosin IA ISO OMIM NCBI chrNW_004955458:4,776,345...4,796,075
Ensembl chrNW_004955458:4,776,345...4,796,075
JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO OMIM NCBI chrNW_004955559:796,455...856,082
Ensembl chrNW_004955559:797,107...853,053
JBrowse link
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO OMIM NCBI chrNW_004955555:1,859,220...1,878,912
Ensembl chrNW_004955555:1,859,220...1,878,912
JBrowse link
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsdme gasdermin E ISO OMIM NCBI chrNW_004955410:26,700,977...26,761,683
Ensembl chrNW_004955410:26,701,893...26,769,989
JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO OMIM NCBI chrNW_004955434:3,781,368...3,923,240 JBrowse link
autosomal dominant nonsyndromic deafness 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU class 4 homeobox 3 ISO OMIM NCBI chrNW_004955415:7,777,296...7,778,622
Ensembl chrNW_004955415:7,777,114...7,778,622
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pappa pappalysin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chrNW_004955419:11,415,666...11,645,994
Ensembl chrNW_004955419:11,420,638...11,646,145
JBrowse link
G Tnc tenascin C ISO OMIM NCBI chrNW_004955419:12,569,620...12,662,897
Ensembl chrNW_004955419:12,569,547...12,662,958
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chrNW_004955419:12,763,343...12,790,044
Ensembl chrNW_004955419:12,762,748...12,788,117
JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610
JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diablo diablo IAP-binding mitochondrial protein ISO OMIM NCBI chrNW_004955482:6,354,502...6,364,424
Ensembl chrNW_004955482:6,354,146...6,365,344
JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family member 24 ISO OMIM NCBI chrNW_004955442:14,816,213...14,823,132 JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd164 CD164 molecule ISO OMIM NCBI chrNW_004955411:34,423,727...34,439,295 JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Homer2 homer scaffold protein 2 ISO OMIM NCBI chrNW_004955416:13,671,115...13,828,413
Ensembl chrNW_004955416:13,741,161...13,818,060
JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO OMIM NCBI chrNW_004955405:25,816,137...25,969,006
Ensembl chrNW_004955405:25,886,447...25,969,395
JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1a LIM homeobox transcription factor 1 alpha ISO OMIM NCBI chrNW_004955462:11,328,583...11,484,438
Ensembl chrNW_004955462:11,329,676...11,477,770
JBrowse link
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm2 minichromosome maintenance complex component 2 ISO OMIM NCBI chrNW_004955429:16,012,345...16,027,151
Ensembl chrNW_004955429:16,012,173...16,027,277
JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmxl2 Dmx like 2 ISO OMIM NCBI chrNW_004955409:2,934,755...3,089,572
Ensembl chrNW_004955409:2,934,740...3,089,703
JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a4 solute carrier family 44 member 4 ISO OMIM NCBI chrNW_004955437:383,523...396,456
Ensembl chrNW_004955437:383,271...397,217
JBrowse link
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprq protein tyrosine phosphatase receptor type Q ISO OMIM NCBI chrNW_004955405:19,123,905...19,318,619
Ensembl chrNW_004955405:19,123,905...19,318,619
JBrowse link
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde1c phosphodiesterase 1C ISO OMIM NCBI chrNW_004955410:32,790,720...33,257,760
Ensembl chrNW_004955410:32,792,649...33,257,291
JBrowse link
autosomal dominant nonsyndromic deafness 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trrap transformation/transcription domain associated protein ISO OMIM NCBI chrNW_004955460:14,641,891...14,761,641
Ensembl chrNW_004955460:14,644,133...14,760,787
JBrowse link
autosomal dominant nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pls1 plastin 1 ISO OMIM NCBI chrNW_004955508:3,215,304...3,324,240
Ensembl chrNW_004955508:3,213,646...3,260,554
JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO OMIM NCBI chrNW_004955442:729,322...858,826
Ensembl chrNW_004955442:729,316...860,290
JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO OMIM NCBI chrNW_004955415:1,138,297...1,219,241
Ensembl chrNW_004955415:1,137,327...1,219,241
JBrowse link
autosomal dominant nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scd5 stearoyl-CoA desaturase 5 ISO OMIM NCBI chrNW_004955433:6,700,616...6,819,782
Ensembl chrNW_004955433:6,700,555...6,818,147
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO OMIM NCBI chrNW_004955402:9,865,934...10,204,990
Ensembl chrNW_004955402:10,104,225...10,201,479
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO OMIM NCBI chrNW_004955424:2,082,480...2,107,599
Ensembl chrNW_004955424:2,083,085...2,106,664
JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO OMIM NCBI chrNW_004955409:29,639,274...29,650,389
Ensembl chrNW_004955409:29,639,274...29,650,874
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO OMIM NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610
JBrowse link
autosomal recessive nonsyndromic deafness 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: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004955418:20,603,323...21,039,891 JBrowse link
G Bsnd barttin CLCNK type accessory beta subunit ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chrNW_004955464:4,459,686...4,468,749
Ensembl chrNW_004955464:4,459,628...4,468,927
JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:22981119 PMID:25741868 PMID:26445815 PMID:28492532 PMID:30303587 NCBI chrNW_004955422:17,967,313...17,972,468
Ensembl chrNW_004955422:17,967,313...17,972,468
JBrowse link
G Cdh23 cadherin related 23 ISO DNA:missense mutations:multiple
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
RGD
ClinVar
PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 More... RGD:8662281 NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819
JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:23023331 PMID:30303587 NCBI chrNW_004955450:660,655...674,726
Ensembl chrNW_004955450:659,383...675,634
JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:30303587 NCBI chrNW_004955407:35,641,560...35,728,105
Ensembl chrNW_004955407:35,641,560...35,728,105
JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chrNW_004955437:11,053,885...11,118,150
Ensembl chrNW_004955437:11,053,885...11,118,255
JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:28492532 More... NCBI chrNW_004955437:19,767,395...19,772,447
Ensembl chrNW_004955437:19,767,395...19,772,447
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 NCBI chrNW_004955404:29,394,253...29,425,358
Ensembl chrNW_004955404:29,394,164...29,425,358
JBrowse link
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004955413:12,267,701...12,386,088
Ensembl chrNW_004955413:12,266,371...12,386,088
JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004955486:6,130,190...6,156,859 JBrowse link
G Esrrb estrogen related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:23967202 PMID:24033266 PMID:30303587 NCBI chrNW_004955438:365,375...534,086
Ensembl chrNW_004955438:365,137...534,666
JBrowse link
G Gipc3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004955495:5,531,374...5,536,691
Ensembl chrNW_004955495:5,532,571...5,536,691
JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 PMID:9139825 More... NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
G Gjb3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chrNW_004955452:12,892,687...12,896,290
Ensembl chrNW_004955452:12,892,687...12,896,290
JBrowse link
G Gpsm2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chrNW_004955435:12,334,462...12,387,262
Ensembl chrNW_004955435:12,334,462...12,387,262
JBrowse link
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20137778 PMID:30303587 NCBI chrNW_004955443:4,799,056...4,908,749
Ensembl chrNW_004955443:4,799,056...4,908,767
JBrowse link
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chrNW_004955415:8,203,968...8,220,148
Ensembl chrNW_004955415:8,203,968...8,220,148
JBrowse link
G Ildr1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:15641023 PMID:21255762 PMID:30303587 NCBI chrNW_004955427:21,304,460...21,333,170
Ensembl chrNW_004955427:21,304,890...21,322,261
JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:16459341 PMID:30303587 NCBI chrNW_004955437:3,644,448...3,650,688 JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chrNW_004955402:31,985,616...32,144,040
Ensembl chrNW_004955402:31,985,583...32,144,040
JBrowse link
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004955575:115,734...135,568
Ensembl chrNW_004955575:115,752...139,463
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19650862 PMID:21185009 PMID:30303587 NCBI chrNW_004955458:12,004,928...12,159,625
Ensembl chrNW_004955458:12,004,806...12,159,954
JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004955478:11,131,908...11,186,465
Ensembl chrNW_004955478:11,132,719...11,186,378
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chrNW_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500
JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:23173898 PMID:24033266 PMID:30303587 NCBI chrNW_004955493:1,154,695...1,228,997
Ensembl chrNW_004955493:1,154,751...1,224,962
JBrowse link
G Otof otoferlin ISO DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
RGD
ClinVar
PMID:14635104 PMID:17967520 PMID:19250381 PMID:24033266 PMID:27082237 More... RGD:9479154 NCBI chrNW_004955469:8,480,099...8,569,215
Ensembl chrNW_004955469:8,481,231...8,569,265
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004955414:32,353,896...32,435,097
Ensembl chrNW_004955414:32,357,054...32,433,849
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004955425:8,443,523...9,203,177
Ensembl chrNW_004955425:8,428,680...8,899,028
JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:30303587 PMID:32747562 NCBI chrNW_004955403:18,386,705...18,393,771
Ensembl chrNW_004955403:18,386,705...18,393,771
JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004955415:7,777,296...7,778,622
Ensembl chrNW_004955415:7,777,114...7,778,622
JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004955405:19,123,905...19,318,619
Ensembl chrNW_004955405:19,123,905...19,318,619
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chrNW_004955410:12,008,067...12,057,147
Ensembl chrNW_004955410:12,009,102...12,059,637
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004955412:22,062,618...22,132,037
Ensembl chrNW_004955412:22,062,618...22,131,442
JBrowse link
G Tmc1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:11850618 PMID:16134132 PMID:17877751 PMID:18414213 PMID:19187973 More... NCBI chrNW_004955434:398,734...500,378
Ensembl chrNW_004955434:398,829...529,810
JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chrNW_004955420:25,428,542...25,435,701
Ensembl chrNW_004955420:25,428,503...25,435,701
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:11137999 PMID:24033266 PMID:30303587 PMID:30311386 NCBI chrNW_004955407:39,332,517...39,351,699
Ensembl chrNW_004955407:39,332,052...39,354,488
JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20170899 PMID:30303587 NCBI chrNW_004955513:5,196,871...5,205,945
Ensembl chrNW_004955513:5,197,280...5,203,445
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chrNW_004955414:32,303,045...32,351,401
Ensembl chrNW_004955414:32,298,759...32,351,505
JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:30303587 NCBI chrNW_004955553:1,788,443...1,795,139
Ensembl chrNW_004955553:1,788,401...1,796,441
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:28492532 More... NCBI chrNW_004955406:1,837,831...2,499,664
Ensembl chrNW_004955406:1,838,885...2,496,980
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chrNW_004955419:13,116,001...13,207,266
Ensembl chrNW_004955419:13,116,001...13,207,266
JBrowse link
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 ISO OMIM NCBI chrNW_004955418:10,822,220...10,898,070
Ensembl chrNW_004955418:10,821,782...10,891,482
JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO OMIM NCBI chrNW_004955415:8,203,968...8,220,148
Ensembl chrNW_004955415:8,203,968...8,220,148
JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO OMIM NCBI chrNW_004955413:12,267,701...12,386,088
Ensembl chrNW_004955413:12,266,371...12,386,088
JBrowse link
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic5 chloride intracellular channel 5 ISO OMIM NCBI chrNW_004955437:11,053,885...11,118,150
Ensembl chrNW_004955437:11,053,885...11,118,255
JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripor2 RHO family interacting cell polarization regulator 2 ISO OMIM NCBI chrNW_004955483:2,048,236...2,257,078
Ensembl chrNW_004955483:2,048,324...2,256,589
JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 ClinVar PMID:28492532 NCBI chrNW_004955413:12,267,701...12,386,088
Ensembl chrNW_004955413:12,266,371...12,386,088
JBrowse link
G Eps8l2 EPS8 like 2 ISO OMIM NCBI chrNW_004955476:11,371,928...11,390,588
Ensembl chrNW_004955476:11,372,571...11,389,804
JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wbp2 WW domain binding protein 2 ISO OMIM NCBI chrNW_004955506:6,398,411...6,406,970
Ensembl chrNW_004955506:6,397,541...6,409,290
JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ror1 receptor tyrosine kinase like orphan receptor 1 ISO OMIM NCBI chrNW_004955423:26,029,122...26,274,668
Ensembl chrNW_004955423:26,028,250...26,170,533
JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrp1 epithelial splicing regulatory protein 1 ISO OMIM NCBI chrNW_004955417:10,813,831...10,881,238
Ensembl chrNW_004955417:10,813,593...10,882,921
JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO OMIM NCBI chrNW_004955409:29,639,274...29,650,389
Ensembl chrNW_004955409:29,639,274...29,650,874
JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpzl2 myelin protein zero like 2 ISO OMIM NCBI chrNW_004955412:19,422,532...19,434,596
Ensembl chrNW_004955412:19,422,537...19,434,596
JBrowse link
autosomal recessive nonsyndromic deafness 112 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO OMIM NCBI chrNW_004955575:330,683...430,269 JBrowse link
autosomal recessive nonsyndromic deafness 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO OMIM NCBI chrNW_004955555:1,859,220...1,878,912
Ensembl chrNW_004955555:1,859,220...1,878,912
JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grap GRB2 related adaptor protein ISO OMIM NCBI chrNW_004955467:559,411...581,098
Ensembl chrNW_004955467:559,397...581,098
JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spns2 sphingolipid transporter 2 ISO OMIM NCBI chrNW_004955467:12,405,172...12,441,490
Ensembl chrNW_004955467:12,406,666...12,441,490
JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO OMIM NCBI chrNW_004955442:14,326,705...14,328,150
Ensembl chrNW_004955442:14,327,140...14,327,793
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn2 clarin 2 ISO OMIM NCBI chrNW_004955480:6,634,653...6,645,499
Ensembl chrNW_004955480:6,631,962...6,645,499
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spata5l1 spermatogenesis associated 5 like 1 ISO OMIM NCBI chrNW_004955409:8,031,094...8,049,477 JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO OMIM NCBI chrNW_004955561:1,727,935...1,851,907
Ensembl chrNW_004955561:1,727,935...1,851,907
JBrowse link
G Cdh23 cadherin related 23 ISO OMIM NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819
JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chrNW_004955437:19,767,395...19,772,447
Ensembl chrNW_004955437:19,767,395...19,772,447
JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 NCBI chrNW_004955437:19,667,252...19,683,669 JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gipc3 GIPC PDZ domain containing family member 3 ISO OMIM NCBI chrNW_004955495:5,531,374...5,536,691
Ensembl chrNW_004955495:5,532,571...5,536,691
JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chrNW_004955409:3,925,106...3,940,566 JBrowse link
G Strc stereocilin ISO OMIM NCBI chrNW_004955416:10,139,420...10,141,906 JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 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: Deafness, autosomal recessive 18 ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 More... NCBI chrNW_004955414:32,303,045...32,351,401
Ensembl chrNW_004955414:32,298,759...32,351,505
JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO OMIM NCBI chrNW_004955414:32,303,045...32,351,401
Ensembl chrNW_004955414:32,298,759...32,351,505
JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otog otogelin ISO OMIM NCBI chrNW_004955414:32,353,896...32,435,097
Ensembl chrNW_004955414:32,357,054...32,433,849
JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar PMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:28492532 NCBI chrNW_004955497:1,183,707...1,316,720
Ensembl chrNW_004955497:1,182,115...1,292,721
JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004955497:1,509,855...1,540,786
Ensembl chrNW_004955497:1,506,742...1,521,850
JBrowse link
G Gjb2 gap junction protein beta 2 ISO OMIM NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
G Gjb3 gap junction protein beta 3 ISO OMIM NCBI chrNW_004955452:12,892,687...12,896,290
Ensembl chrNW_004955452:12,892,687...12,896,290
JBrowse link
G Gjb4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 NCBI chrNW_004955452:12,871,548...12,874,019
Ensembl chrNW_004955452:12,871,548...12,874,019
JBrowse link
G Gjb6 gap junction protein beta 6 ISO OMIM NCBI chrNW_004955497:1,018,610...1,027,593
Ensembl chrNW_004955497:1,018,610...1,027,360
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004955497:1,338,959...1,454,788
Ensembl chrNW_004955497:1,338,904...1,455,122
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004955497:1,499,700...1,506,557 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004955497:1,562,945...1,661,379
Ensembl chrNW_004955497:1,563,008...1,641,863
JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 More... NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
G Gjb6 gap junction protein beta 6 ISO OMIM NCBI chrNW_004955497:1,018,610...1,027,593
Ensembl chrNW_004955497:1,018,610...1,027,360
JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO OMIM NCBI chrNW_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500
JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 ClinVar NCBI chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525
JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO OMIM NCBI chrNW_004955412:22,062,618...22,132,037
Ensembl chrNW_004955412:22,062,618...22,131,442
JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otoa otoancorin ISO OMIM NCBI chrNW_004955493:1,154,695...1,228,997
Ensembl chrNW_004955493:1,154,751...1,224,962
JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO OMIM NCBI chrNW_004955425:8,443,523...9,203,177
Ensembl chrNW_004955425:8,428,680...8,899,028
JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rdx radixin ISO OMIM NCBI chrNW_004955412:12,100,436...12,184,444
Ensembl chrNW_004955412:12,100,359...12,172,545
JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO OMIM NCBI chrNW_004955443:4,799,056...4,908,749
Ensembl chrNW_004955443:4,799,056...4,908,767
JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gab1 GRB2 associated binding protein 1 ISO OMIM NCBI chrNW_004955471:61,580...191,175
Ensembl chrNW_004955471:61,120...191,175
JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:25741868 PMID:32109419 NCBI chrNW_004955426:3,647,273...3,846,916
Ensembl chrNW_004955426:3,646,728...3,846,988
JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO OMIM NCBI chrNW_004955407:35,641,560...35,728,105
Ensembl chrNW_004955407:35,641,560...35,728,105
JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO OMIM NCBI chrNW_004955478:11,131,908...11,186,465
Ensembl chrNW_004955478:11,132,719...11,186,378
JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 ClinVar NCBI chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525
JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO OMIM NCBI chrNW_004955429:3,172,457...3,358,688
Ensembl chrNW_004955429:3,172,996...3,358,688
JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO OMIM NCBI chrNW_004955419:13,116,001...13,207,266
Ensembl chrNW_004955419:13,116,001...13,207,266
JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc14a cell division cycle 14A ISO OMIM NCBI chrNW_004955435:5,099,576...5,230,252
Ensembl chrNW_004955435:5,099,107...5,248,679
JBrowse link
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrrb estrogen related receptor beta ISO OMIM NCBI chrNW_004955438:365,375...534,086
Ensembl chrNW_004955438:365,137...534,666
JBrowse link
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO OMIM NCBI chrNW_004955486:6,130,190...6,156,859 JBrowse link
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO OMIM NCBI chrNW_004955502:4,219,067...4,356,988
Ensembl chrNW_004955502:4,218,885...4,356,988
JBrowse link
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO OMIM NCBI chrNW_004955410:4,114,280...4,181,953
Ensembl chrNW_004955410:4,114,778...4,182,058
JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi1 forkhead box I1 ISO OMIM NCBI chrNW_004955408:23,074,876...23,078,766
Ensembl chrNW_004955408:23,074,850...23,078,815
JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO OMIM NCBI chrNW_004955468:11,828,525...11,860,365
Ensembl chrNW_004955468:11,828,525...11,860,365
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO OMIM NCBI chrNW_004955410:12,008,067...12,057,147
Ensembl chrNW_004955410:12,009,102...12,059,637
JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ildr1 immunoglobulin like domain containing receptor 1 ISO OMIM NCBI chrNW_004955427:21,304,460...21,333,170
Ensembl chrNW_004955427:21,304,890...21,322,261
JBrowse link
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy1 adenylate cyclase 1 ISO OMIM NCBI chrNW_004955456:6,833,992...6,930,990
Ensembl chrNW_004955456:6,841,637...6,930,990
JBrowse link
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib2 calcium and integrin binding family member 2 ISO OMIM NCBI chrNW_004955450:660,655...674,726
Ensembl chrNW_004955450:659,383...675,634
JBrowse link
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marveld2 MARVEL domain containing 2 ISO OMIM NCBI chrNW_004955575:115,734...135,568
Ensembl chrNW_004955575:115,752...139,463
JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO OMIM NCBI chrNW_004955437:1,739,426...1,767,087
Ensembl chrNW_004955437:1,740,402...1,766,490
JBrowse link
autosomal recessive nonsyndromic deafness 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdzd7 PDZ domain containing 7 ISO OMIM NCBI chrNW_004955485:9,166,721...9,183,129
Ensembl chrNW_004955485:9,166,745...9,182,427
JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pjvk pejvakin ISO OMIM NCBI chrNW_004955403:18,386,705...18,393,771
Ensembl chrNW_004955403:18,386,705...18,393,771
JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chrNW_004955403:18,394,609...18,410,381
Ensembl chrNW_004955403:18,373,375...18,410,627
JBrowse link
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmie transmembrane inner ear ISO OMIM NCBI chrNW_004955420:25,428,542...25,435,701
Ensembl chrNW_004955420:25,428,503...25,435,701
JBrowse link
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a5 solute carrier family 26 member 5 ISO OMIM NCBI chrNW_004955410:8,358,780...8,414,145
Ensembl chrNW_004955410:8,358,786...8,414,145
JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955414:19,218,727...19,222,138
Ensembl chrNW_004955414:19,218,727...19,222,138
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chrNW_004955414:19,252,191...19,327,504
Ensembl chrNW_004955414:19,252,191...19,327,504
JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 ISO OMIM NCBI chrNW_004955483:2,608,063...2,783,872
Ensembl chrNW_004955483:2,607,925...2,778,799
JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO OMIM NCBI chrNW_004955437:3,644,448...3,650,688 JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1pr2 sphingosine-1-phosphate receptor 2 ISO OMIM NCBI chrNW_004955495:1,528,963...1,530,527
Ensembl chrNW_004955495:1,529,428...1,530,486
JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nphs2 NPHS2 stomatin family member, podocin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar NCBI chrNW_004955406:18,862,054...18,885,214
Ensembl chrNW_004955406:18,863,446...18,885,279
JBrowse link
G Tmc1 transmembrane channel like 1 ISO OMIM NCBI chrNW_004955434:398,734...500,378
Ensembl chrNW_004955434:398,829...529,810
JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar PMID:18616530 PMID:19187973 PMID:21917145 NCBI chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525
JBrowse link
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO OMIM NCBI chrNW_004955424:27,407,451...27,449,830
Ensembl chrNW_004955424:27,407,489...27,448,992
JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msrb3 methionine sulfoxide reductase B3 ISO OMIM NCBI chrNW_004955458:12,004,928...12,159,625
Ensembl chrNW_004955458:12,004,806...12,159,954
JBrowse link
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne4 spectrin repeat containing nuclear envelope family member 4 ISO OMIM NCBI chrNW_004955468:2,580,743...2,584,967
Ensembl chrNW_004955468:2,580,743...2,584,967
JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO OMIM NCBI chrNW_004955402:31,985,616...32,144,040
Ensembl chrNW_004955402:31,985,583...32,144,040
JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77 ClinVar PMID:21465660 NCBI chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525
JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprn taperin ISO OMIM NCBI chrNW_004955513:5,196,871...5,205,945
Ensembl chrNW_004955513:5,197,280...5,203,445
JBrowse link
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmprss3 transmembrane serine protease 3 ISO OMIM NCBI chrNW_004955407:39,332,517...39,351,699
Ensembl chrNW_004955407:39,332,052...39,354,488
JBrowse link
autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprq protein tyrosine phosphatase receptor type Q ISO OMIM NCBI chrNW_004955405:19,123,905...19,318,619
Ensembl chrNW_004955405:19,123,905...19,318,619
JBrowse link
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otogl otogelin like ISO OMIM NCBI chrNW_004955405:18,935,328...19,063,983
Ensembl chrNW_004955405:18,935,354...19,062,453
JBrowse link
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chrNW_004955442:14,864,935...14,890,802
Ensembl chrNW_004955442:14,865,954...14,890,709
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO OMIM NCBI chrNW_004955442:14,816,213...14,823,132 JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO OMIM NCBI chrNW_004955424:2,082,480...2,107,599
Ensembl chrNW_004955424:2,083,085...2,106,664
JBrowse link
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO OMIM NCBI chrNW_004955484:1,924,523...1,939,777
Ensembl chrNW_004955484:1,924,523...1,940,552
JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:24218524 PMID:25326637 PMID:26467025 NCBI chrNW_004955406:10,180,415...10,217,450
Ensembl chrNW_004955406:10,180,415...10,217,505
JBrowse link
G Igsf6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chrNW_004955493:1,109,910...1,119,806
Ensembl chrNW_004955493:1,110,843...1,119,765
JBrowse link
G Mettl9 methyltransferase like 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chrNW_004955493:1,083,274...1,123,035
Ensembl chrNW_004955493:1,083,330...1,123,852
JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chrNW_004955493:1,154,695...1,228,997
Ensembl chrNW_004955493:1,154,751...1,224,962
JBrowse link
G Otof otoferlin ISO OMIM NCBI chrNW_004955469:8,480,099...8,569,215
Ensembl chrNW_004955469:8,481,231...8,569,265
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 NCBI chrNW_004955577:185,404...296,613
Ensembl chrNW_004955577:183,051...200,139
JBrowse link
G Trpc6 transient receptor potential cation channel subfamily C member 6 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:18381613 NCBI chrNW_004955412:4,905,039...5,019,678
Ensembl chrNW_004955412:4,906,650...4,950,525
JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp2 calcium binding protein 2 ISO OMIM NCBI chrNW_004955422:17,967,313...17,972,468
Ensembl chrNW_004955422:17,967,313...17,972,468
JBrowse link
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chrNW_004955414:13,410,751...13,528,014
Ensembl chrNW_004955414:13,410,741...13,528,423
JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO OMIM NCBI chrNW_004955432:22,440,671...22,519,592
Ensembl chrNW_004955432:22,440,637...22,517,647
JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspear thrombospondin type laminin G domain and EAR repeats ISO OMIM NCBI chrNW_004955407:41,513,538...41,566,931
Ensembl chrNW_004955407:41,513,829...41,656,564
JBrowse link
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem132e transmembrane protein 132E ISO OMIM NCBI chrNW_004955481:9,284,453...9,337,038
Ensembl chrNW_004955481:9,284,453...9,338,793
JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a1 solute carrier family 9 member A1 ISO OMIM NCBI chrNW_004955452:6,409,833...6,467,841
Ensembl chrNW_004955452:6,409,833...6,467,841
JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO OMIM NCBI chrNW_004955522:2,514,313...2,519,694 JBrowse link
Bart-Pumphrey syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO OMIM NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099
JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory beta subunit ISO OMIM NCBI chrNW_004955464:4,459,686...4,468,749
Ensembl chrNW_004955464:4,459,628...4,468,927
JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO OMIM NCBI chrNW_004955420:14,927,490...15,007,082
Ensembl chrNW_004955420:14,923,575...15,007,081
JBrowse link
Bilateral Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X RGD PMID:12032315 RGD:1600555 NCBI chrNW_004955429:3,172,457...3,358,688
Ensembl chrNW_004955429:3,172,996...3,358,688
JBrowse link
G Nefh neurofilament heavy chain disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chrNW_004955455:3,735,330...3,744,714
Ensembl chrNW_004955455:3,735,410...3,744,107
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) RGD PMID:19645628 RGD:7411669 NCBI chrNW_004955410:12,008,067...12,057,147
Ensembl chrNW_004955410:12,009,102...12,059,637
JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102007967 mitochondrial chaperone BCS1 ISO OMIM NCBI chrNW_004955453:14,762,237...14,766,693
Ensembl chrNW_004955453:14,762,237...14,766,383
JBrowse link
blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO ClinVar Annotator: match by term: Legal blindness ClinVar PMID:9973280 PMID:10958761 PMID:24938718 PMID:25312043 PMID:25741868 More... NCBI chrNW_004955423:612,098...738,702
Ensembl chrNW_004955423:612,098...736,035
JBrowse link
G Aipl1 aryl hydrocarbon receptor interacting protein like 1 susceptibility ISO RGD PMID:10873396 RGD:1599003 NCBI chrNW_004955467:11,952,940...11,962,147
Ensembl chrNW_004955467:11,952,495...11,962,153
JBrowse link
G Aqp4 aquaporin 4 ISO associated with Multiple Sclerosis, Relapsing-Remitting; RGD PMID:17702782 RGD:8696024 NCBI chrNW_004955772:1,160...10,709
Ensembl chrNW_004955772:1,159...10,709
JBrowse link
G Arv1 ARV1 homolog, fatty acid homeostasis modulator ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25558065 PMID:27270415 NCBI chrNW_004955492:7,669,956...7,683,293
Ensembl chrNW_004955492:7,672,746...7,683,728
JBrowse link
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:15114530 NCBI chrNW_004955457:704,213...729,702
Ensembl chrNW_004955457:704,213...730,134
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 chrNW_004955405:25,533,037...25,607,021
Ensembl chrNW_004955405:25,533,525...25,606,212
JBrowse link
G Efemp1 EGF containing fibulin extracellular matrix protein 1 ISO ClinVar Annotator: match by term: Blindness ClinVar PMID:25741868 NCBI chrNW_004955424:27,181,717...27,240,067
Ensembl chrNW_004955424:27,181,099...27,240,446
JBrowse link
G Lca5 lebercilin LCA5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17546029 NCBI chrNW_004955502:7,325,650...7,373,641
Ensembl chrNW_004955502:7,325,103...7,376,368
JBrowse link
G Myo15a myosin XVA induces ISO DNA:missense mutation:cds:exon 56 T>C, p.Leu3157Pro (rat)
compared to LEW/Ztm
RGD PMID:21479269 RGD:150429616 NCBI chrNW_004955478:11,131,908...11,186,465
Ensembl chrNW_004955478:11,132,719...11,186,378
JBrowse link
G Rpe65 retinoid isomerohydrolase RPE65 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:16150724 PMID:16226919 NCBI chrNW_004955423:23,184,326...23,208,206
Ensembl chrNW_004955423:23,183,937...23,208,282
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Legal blindness ClinVar PMID:15015129 PMID:15043528 PMID:15241801 PMID:15325563 PMID:16963483 More... NCBI chrNW_004955406:1,837,831...2,499,664
Ensembl chrNW_004955406:1,838,885...2,496,980
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:23093773 RGD:11075234 NCBI chrNW_004955437:9,527,445...9,541,908 JBrowse link
G Vsx2 visual system homeobox 2 susceptibility ISO microphthalmia, OMIM:251600;DNA:missense mutations: :p.R200Q , p.R200P RGD PMID:10932181 RGD:734779 NCBI chrNW_004955523:1,192,035...1,207,949
Ensembl chrNW_004955523:1,193,686...1,210,641
JBrowse link
blue color blindness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opn1sw opsin 1, short wave sensitive ISO OMIM NCBI chrNW_004955479:9,573,594...9,576,668
Ensembl chrNW_004955479:9,573,594...9,576,668
JBrowse link
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955454:2,944,169...2,982,203
Ensembl chrNW_004955454:2,979,889...2,982,203
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004955596:48,463...60,239
Ensembl chrNW_004955596:47,108...60,239
JBrowse link
Brown-Vialetto-Van Laere syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004955454:2,944,169...2,982,203
Ensembl chrNW_004955454:2,979,889...2,982,203
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO OMIM NCBI chrNW_004955596:48,463...60,239
Ensembl chrNW_004955596:47,108...60,239
JBrowse link
Brown-Vialetto-Van Laere syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:3,006,851...3,024,430
Ensembl chrNW_004955454:3,006,845...3,024,426
JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,882,694...2,907,177
Ensembl chrNW_004955454:2,882,755...2,907,081
JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:3,024,324...3,039,004
Ensembl chrNW_004955454:3,024,406...3,039,425
JBrowse link
G Cyhr1 cysteine and histidine rich 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:3,069,887...3,087,172
Ensembl chrNW_004955454:3,069,887...3,086,954
JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,933,904...2,944,675
Ensembl chrNW_004955454:2,934,152...2,944,492
JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,732,308...2,734,398
Ensembl chrNW_004955454:2,732,308...2,734,398
JBrowse link
G Fbxl6 F-box and leucine rich repeat protein 6 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,976,812...2,979,835
Ensembl chrNW_004955454:2,976,894...2,979,785
JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:3,094,015...3,096,060
Ensembl chrNW_004955454:3,094,033...3,095,512
JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,735,463...2,738,956
Ensembl chrNW_004955454:2,735,463...2,738,956
JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,657,374...2,660,591
Ensembl chrNW_004955454:2,658,490...2,660,021
JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,788,014...2,790,902
Ensembl chrNW_004955454:2,788,020...2,789,783
JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,907,265...2,932,352
Ensembl chrNW_004955454:2,907,265...2,932,351
JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:3,087,168...3,093,916
Ensembl chrNW_004955454:3,087,437...3,093,190
JBrowse link
G LOC102023109 cytochrome c1, heme protein, mitochondrial ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,758,935...2,760,569
Ensembl chrNW_004955454:2,758,292...2,760,376
JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,765,966...2,769,260
Ensembl chrNW_004955454:2,765,966...2,769,260
JBrowse link
G Mroh1 maestro heat like repeat family member 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,799,727...2,882,610
Ensembl chrNW_004955454:2,799,728...2,882,610
JBrowse link
G Oplah 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,707,819...2,735,375
Ensembl chrNW_004955454:2,707,819...2,720,992
JBrowse link
G Parp10 poly(ADP-ribose) polymerase family member 10 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,644,718...2,651,962
Ensembl chrNW_004955454:2,645,003...2,651,604
JBrowse link
G Plec plectin ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,583,138...2,644,308
Ensembl chrNW_004955454:2,583,138...2,643,211
JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,948,137...2,953,955
Ensembl chrNW_004955454:2,950,663...2,953,645
JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,886,981...2,888,829
Ensembl chrNW_004955454:2,886,981...2,888,829
JBrowse link
G Sharpin SHANK associated RH domain interactor ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,761,725...2,765,929
Ensembl chrNW_004955454:2,761,725...2,765,929
JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:3,041,316...3,047,419
Ensembl chrNW_004955454:3,040,877...3,046,250
JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO OMIM NCBI chrNW_004955454:2,944,169...2,982,203
Ensembl chrNW_004955454:2,979,889...2,982,203
JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,675,857...2,703,729
Ensembl chrNW_004955454:2,676,247...2,703,335
JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:2,974,713...2,976,454 JBrowse link
G Tonsl tonsoku like, DNA repair protein ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:3,054,727...3,067,785
Ensembl chrNW_004955454:3,054,400...3,068,028
JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 2 ClinVar PMID:28492532 NCBI chrNW_004955454:3,049,977...3,054,078
Ensembl chrNW_004955454:3,048,042...3,054,361
JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:63,312,588...63,346,307
Ensembl chrNW_004955402:63,311,741...63,347,641
JBrowse link
G Atp9b ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:62,231,875...62,537,311
Ensembl chrNW_004955402:62,231,875...62,537,311
JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:62,817,822...62,914,250
Ensembl chrNW_004955402:62,817,974...62,914,276
JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:60,449,660...60,559,549
Ensembl chrNW_004955402:60,546,186...60,559,298
JBrowse link
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:62,997,807...63,033,813 JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:60,324,060...60,448,926
Ensembl chrNW_004955402:60,323,950...60,441,406
JBrowse link
G Nfatc1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:62,558,392...62,674,347
Ensembl chrNW_004955402:62,558,286...62,674,457
JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:63,374,837...63,459,327
Ensembl chrNW_004955402:63,374,837...63,459,333
JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:63,213,097...63,224,252
Ensembl chrNW_004955402:63,213,081...63,230,907
JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:62,157,988...62,163,977
Ensembl chrNW_004955402:62,157,970...62,163,057
JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:63,035,932...63,073,981
Ensembl chrNW_004955402:63,035,932...63,073,980
JBrowse link
G Txnl4a thioredoxin like 4A ISO OMIM NCBI chrNW_004955402:63,153,274...63,166,208
Ensembl chrNW_004955402:63,153,052...63,166,199
JBrowse link
G Znf236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:60,185,687...60,315,589
Ensembl chrNW_004955402:60,185,646...60,315,584
JBrowse link
G Znf516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chrNW_004955402:59,750,682...59,874,987
Ensembl chrNW_004955402:59,752,106...59,874,743
JBrowse link
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO OMIM NCBI chrNW_004955514:1,030,244...1,038,590
Ensembl chrNW_004955514:1,025,600...1,038,590
JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO OMIM NCBI chrNW_004955555:869,508...892,510 JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO OMIM NCBI chrNW_004955520:3,485,816...3,521,035
Ensembl chrNW_004955520:3,485,816...3,520,549
JBrowse link
Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Emc1 ER membrane protein complex subunit 1 ISO OMIM NCBI chrNW_004955527:19,069...45,951
Ensembl chrNW_004955527:19,069...45,951
JBrowse link
Cerebral Visual Impairment and Intellectual Disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp6 acid phosphatase 6, lysophosphatidic ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955568:744,453...764,402
Ensembl chrNW_004955568:744,836...764,331
JBrowse link
G Ahdc1 AT-hook DNA binding motif containing 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955452:6,767,250...6,832,989
Ensembl chrNW_004955452:6,767,266...6,832,868
JBrowse link
G Amot angiomotin ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955490:2,965,899...3,042,541
Ensembl chrNW_004955490:2,965,539...3,042,606
JBrowse link
G Arhgef10l Rho guanine nucleotide exchange factor 10 like ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955527:1,315,509...1,448,306
Ensembl chrNW_004955527:1,314,077...1,448,366
JBrowse link
G Atp6v1a ATPase H+ transporting V1 subunit A ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955427:13,868,683...13,922,028
Ensembl chrNW_004955427:13,868,171...13,922,028
JBrowse link
G Dcaf6 DDB1 and CUL4 associated factor 6 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955462:9,036,710...9,176,981
Ensembl chrNW_004955462:9,037,118...9,176,713
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 PMID:27479843 NCBI chrNW_004955467:9,691,733...9,715,872
Ensembl chrNW_004955467:9,690,469...9,715,872
JBrowse link
G Gabrb2 gamma-aminobutyric acid type A receptor beta2 subunit ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955408:15,126,235...15,363,169
Ensembl chrNW_004955408:15,131,909...15,363,169
JBrowse link
G Kctd19 potassium channel tetramerization domain containing 19 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955484:9,282,976...9,344,882
Ensembl chrNW_004955484:9,310,147...9,344,882
JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:25804403 PMID:26350515 NCBI chrNW_004955403:3,527,398...3,582,004
Ensembl chrNW_004955403:3,527,138...3,582,004
JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 PMID:27087320 NCBI chrNW_004955486:4,303,573...4,695,800
Ensembl chrNW_004955486:4,443,723...4,695,800
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955434:8,790,685...8,879,757
Ensembl chrNW_004955434:8,790,685...8,879,757
JBrowse link
G Slc25a16 solute carrier family 25 member 16 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955425:20,705,758...20,739,692
Ensembl chrNW_004955425:20,707,006...20,739,455
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955413:18,831,931...19,676,371
Ensembl chrNW_004955413:18,831,931...19,204,217
JBrowse link
G Spata6l spermatogenesis associated 6 like ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955434:8,893,132...8,956,994
Ensembl chrNW_004955434:8,893,964...8,956,844
JBrowse link
G Ufsp2 UFM1 specific peptidase 2 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955403:23,634,967...23,655,429
Ensembl chrNW_004955403:23,634,924...23,655,429
JBrowse link
G Uhmk1 U2AF homology motif kinase 1 ISO ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability ClinVar PMID:26350515 NCBI chrNW_004955462:13,819,107...13,837,679 JBrowse link
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein beta 1 ISO ClinVar Annotator: match by term: Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers ClinVar PMID:12402337 PMID:15241803 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004955475:10,779,415...10,787,910
Ensembl chrNW_004955475:10,785,996...10,787,910
JBrowse link
G Pmp22 peripheral myelin protein 22 ISO OMIM NCBI chrNW_004955467:2,422,181...2,456,925
Ensembl chrNW_004955467:2,423,659...2,457,307
JBrowse link
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO OMIM NCBI chrNW_004955468:13,041,911...13,047,026
Ensembl chrNW_004955468:13,041,011...13,047,284
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO OMIM NCBI chrNW_004955473:4,891,955...4,925,705
Ensembl chrNW_004955473:4,891,955...4,926,428
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Cowchock syndrome ClinVar PMID:3856385 PMID:20362274 PMID:20818383 PMID:22019070 PMID:23217327 More... NCBI chrNW_004955473:4,875,230...4,891,898
Ensembl chrNW_004955473:4,875,202...4,887,177
JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position