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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:sensorineural hearing loss
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Accession:DOID:10003 term browser browse the term
Definition:An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. (DO)
Synonyms:exact_synonym: central hearing loss;   cochlear hearing loss;   perceptive deafness;   perceptive hearing loss;   perceptive hearing loss or deafness;   sensorineural deafness;   sensorineural hearing loss disorder;   sensory hearing loss
 narrow_synonym: CONGENITAL SENSORINEURAL HEARING IMPAIRMENT;   autosomal dominant deafness with peripheral neuropathy;   bilateral sensorineural hearing impairment;   progressive sensorineural hearing impairment
 primary_id: MESH:D006319
 xref: EFO:1001176;   ICD10CM:H90.5;   ICD9CM:389.1;   NCI:C26739;   NCI:C34662
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTB actin beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685646 NCBI chr 3:4,084,275...4,090,383
Ensembl chr 3:4,082,216...4,090,356
JBrowse link
G ADPRS ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 6:92,238,467...92,244,515
Ensembl chr 6:92,237,980...92,244,514
JBrowse link
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:32219868 NCBI chr 6:97,200,890...97,234,577
Ensembl chr 6:97,200,922...97,235,366
JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317
JBrowse link
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:17454231 RGD:7771593 NCBI chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
JBrowse link
G ATF6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:25741868 PMID:26029869 PMID:28028229 PMID:28492532 NCBI chr 4:88,591,279...88,806,156
Ensembl chr 4:88,591,288...88,805,304
JBrowse link
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 4:104,353,506...104,384,321
Ensembl chr 4:104,353,506...104,384,680
JBrowse link
G ATP1B1 ATPase Na+/K+ transporting subunit beta 1 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 4:81,912,543...81,937,015
Ensembl chr 4:81,911,561...81,991,840
JBrowse link
G BCAP31 B cell receptor associated protein 31 ISO DNA:mutation, deletion:exon:p.Q33X (human) RGD PMID:24011989 RGD:7483567 NCBI chr  X:124,456,999...124,484,923
Ensembl chr  X:124,457,001...124,484,743
JBrowse link
G BDNF brain derived neurotrophic factor ISO mRNA,protein:increased expression:inferior colliculus: RGD PMID:20598895 RGD:8655560 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765
JBrowse link
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868
G BSND barttin CLCNK type accessory subunit beta ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon RGD PMID:11687798 RGD:1600603 NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580
JBrowse link
G CARMIL1 capping protein regulator and myosin 1 linker 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 7:20,036,430...20,353,431
Ensembl chr 7:20,036,944...20,353,420
JBrowse link
G CAT catalase ISO RGD PMID:15109710 RGD:8547516 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452
JBrowse link
G CDC14A cell division cycle 14A ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 4:117,635,849...117,804,568
Ensembl chr 4:117,635,861...117,805,254
JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:22899989 PMID:25741868 PMID:25963016 PMID:28492532 PMID:30303587 NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
JBrowse link
G CEP78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 NCBI chr 1:231,081,157...231,113,065
Ensembl chr 1:231,081,196...231,115,940
JBrowse link
G CLCN3 chloride voltage-gated channel 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr14:20,037,628...20,127,160
Ensembl chr14:20,026,685...20,127,155
JBrowse link
G CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 6:75,178,914...75,192,670 JBrowse link
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525
JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:16261627 PMID:19461658 PMID:25780252 PMID:28492532 PMID:30311386 More... NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,491...25,234,888
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16189708 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,137...78,380,718
JBrowse link
G COL9A1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 1:50,403,355...50,498,356
Ensembl chr 1:50,403,361...50,498,332
JBrowse link
G COL9A3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:25741868 PMID:28492532 NCBI chr17:62,074,108...62,094,228
Ensembl chr17:62,074,855...62,093,703
JBrowse link
G COX18 cytochrome c oxidase assembly factor COX18 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 8:69,274,420...69,354,969
Ensembl chr 8:69,341,198...69,354,894
JBrowse link
G DBH dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 1:273,204,407...273,225,562
Ensembl chr 1:273,204,175...273,225,552
JBrowse link
G DIAPH1 diaphanous related formin 1 susceptibility ISO autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation RGD PMID:9360932 RGD:1601058 NCBI chr 2:143,158,691...143,271,110
Ensembl chr 2:143,158,585...143,271,147
JBrowse link
G DPT dermatopontin ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 4:82,287,657...82,319,380
Ensembl chr 4:82,287,730...82,319,366
JBrowse link
G EDN3 endothelin 3 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr17:59,418,667...59,448,382
Ensembl chr17:59,425,495...59,448,362
JBrowse link
G EDNRB endothelin receptor type B ISO DNA:mutation:cds: RGD PMID:21915282 RGD:6480217 NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:25762674 RGD:11567237 NCBI chr14:89,998,125...90,075,911
Ensembl chr14:90,002,024...90,075,898
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO associated with Cockayne Syndrome RGD PMID:25762674 RGD:11567237 NCBI chr16:39,704,602...39,770,330
Ensembl chr16:39,701,702...39,770,315
JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591
JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO DNA:deletion:introns, exon (human) RGD PMID:15735644 RGD:1598455 NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604
JBrowse link
G F2 coagulation factor II, thrombin no_association ISO DNA:transition: :20210G>A (human)
DNA:transition: :20210G>A(human)
associated with Stroke
RGD PMID:16572609 PMID:17334320 PMID:18636032 RGD:7387240 RGD:7387261 RGD:7387268 NCBI chr 2:15,793,257...15,819,151
Ensembl chr 2:15,791,455...15,819,137
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation
DNA:SNP: :1691G>A (human)
RGD PMID:16015153 PMID:16572609 RGD:7387240 RGD:7387260 NCBI chr 4:81,403,273...81,484,908
Ensembl chr 4:81,403,274...81,485,066
JBrowse link
G FADD Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,009...3,497,533
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:30311386 PMID:34652575 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,713...131,289,425
JBrowse link
G FOXP4 forkhead box P4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:36,760,643...36,793,620
Ensembl chr 7:36,742,752...36,793,619
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,587...61,723,119
JBrowse link
G GABRR2 gamma-aminobutyric acid type A receptor subunit rho2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 1:57,287,265...57,332,342
Ensembl chr 1:57,286,705...57,332,720
JBrowse link
G GAS2 growth arrest specific 2 ISO MouseDO NCBI chr 2:36,712,758...36,885,436
Ensembl chr 2:36,711,612...36,885,620
JBrowse link
G GATA3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 RGD PMID:10935639 RGD:1358706 NCBI chr10:63,367,684...63,397,977
Ensembl chr10:63,367,663...63,388,859
JBrowse link
G GCC2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 3:47,718,251...47,759,060
Ensembl chr 3:47,718,254...47,758,999
JBrowse link
G GGPS1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:32403198 NCBI chr14:55,907,885...55,924,037
Ensembl chr14:55,908,674...55,923,988
JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:23510777 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32747562 More... NCBI chr 2:75,082,048...75,090,145
Ensembl chr 2:75,083,362...75,089,756
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy ClinVar PMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 PMID:19197336 More... NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
JBrowse link
G GJC3 gap junction protein gamma 3 ISO RGD PMID:16481432 RGD:1578421 NCBI chr 3:7,843,398...7,849,864
Ensembl chr 3:7,839,151...7,848,761
JBrowse link
G GPSM2 G protein signaling modulator 2 ISO DNA:nonsense mutation:cds:p.R127X(human)
DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human)
RGD PMID:20602914 PMID:21348867 RGD:11552574 RGD:11552577 NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886
JBrowse link
G GRHL2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 4:35,368,788...35,565,394
Ensembl chr 4:35,371,136...35,564,919
JBrowse link
G GSDME gasdermin E ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr18:47,524,637...47,583,748
Ensembl chr18:47,526,797...47,583,731
JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619
JBrowse link
G IFNG interferon gamma ISO associated with Hearing Loss, Sensorineural;protein:increased expression:serum: RGD PMID:15937357 PMID:19684145 RGD:7987908 RGD:8142347 NCBI chr 5:32,477,906...32,482,670
Ensembl chr 5:32,477,906...32,482,670
JBrowse link
G IL2 interleukin 2 ISO RGD PMID:9693304 RGD:8662926 NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:21255762 PMID:25741868 PMID:28492532 NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189
JBrowse link
G IRX5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 6:30,511,263...30,515,015
Ensembl chr 6:30,511,894...30,514,808
JBrowse link
G ITGA2 integrin subunit alpha 2 ISO DNA:snp:cds:c.807C>T (rs1126643) (human) RGD PMID:22948415 RGD:8686432 NCBI chr16:32,336,240...32,440,311
Ensembl chr16:32,336,292...32,437,103
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:28496994 More... NCBI chr 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:27081546 PMID:30311386 PMID:34652575 NCBI chr 6:170,346,135...170,401,534
Ensembl chr 6:170,346,141...170,401,718
JBrowse link
G KL klotho ISO RGD PMID:21167925 RGD:10403058 NCBI chr11:9,427,236...9,479,251
Ensembl chr11:9,427,037...9,479,228
JBrowse link
G LARS1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:147,480,132...147,554,197
Ensembl chr 2:147,477,370...147,554,047
JBrowse link
G LMX1A LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:29971487 NCBI chr 4:85,403,287...85,570,738
Ensembl chr 4:85,406,223...85,571,443
JBrowse link
G LRP2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr15:75,565,299...75,754,604
Ensembl chr15:75,565,303...75,716,694
JBrowse link
G MBL2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds: RGD PMID:23246423 RGD:8693695 NCBI chr14:97,103,926...97,107,635
Ensembl chr14:97,102,823...97,108,083
JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:8659547 PMID:20127975 PMID:20478267 PMID:22320238 PMID:24194866 More... NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
JBrowse link
G MRPS7 mitochondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr12:6,052,109...6,055,669
Ensembl chr12:6,052,063...6,055,668
JBrowse link
G MT-CYB mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28027978 NCBI chr MT:15,342...16,481
Ensembl chr MT:15,342...16,481
JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750
JBrowse link
G MYH9 myosin heavy chain 9 disease_progression ISO associated with MYH9-Related Disorders;DNA:mutations:cds: RGD PMID:26226608 RGD:11533922 NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:9536098 PMID:17546645 PMID:17576681 PMID:24033266 PMID:24875298 More... NCBI chr12:60,533,502...60,582,645 JBrowse link
G MYO1A myosin IA ISO DFNA48, OMIM:607841 RGD PMID:12736868 RGD:1600218 NCBI chr 5:22,338,024...22,363,528
Ensembl chr 5:22,338,029...22,363,568
JBrowse link
G MYO1F myosin IF ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 2:70,753,143...70,792,938
Ensembl chr 2:70,753,138...70,792,936
JBrowse link
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:12032315 PMID:23990876 PMID:25741868 PMID:28492532 PMID:32006683 More... NCBI chr10:49,392,119...49,623,575 JBrowse link
G MYO6 myosin VI ISO DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y RGD PMID:11468689 RGD:1600556 NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 9:12,869,347...13,010,897
Ensembl chr 9:12,867,686...13,010,887
JBrowse link
G NCOA3 nuclear receptor coactivator 3 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:30311386 PMID:33326993 PMID:34652575 NCBI chr17:49,528,275...49,660,471
Ensembl chr17:49,528,179...49,663,200
JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:12477167 PMID:12566280 PMID:19158810 PMID:20301384 PMID:21840889 More... NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
JBrowse link
G NGF nerve growth factor ISO protein:decreased expression:serum: RGD PMID:14587217 RGD:8655553 NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837
JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:12525542 PMID:16199547 PMID:16371502 PMID:18381613 PMID:19250381 More... NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
JBrowse link
G P2RX2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:28492532 PMID:30311386 PMID:34652575 NCBI chr14:22,854,828...22,858,574
Ensembl chr14:22,854,828...22,858,386
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 7:38,039,852...38,052,384
Ensembl chr 7:38,039,862...38,052,369
JBrowse link
G PHEX phosphate regulating endopeptidase X-linked ISO DNA:mutations:cds: RGD PMID:15029877 RGD:11556244 NCBI chr  X:18,199,396...18,420,985
Ensembl chr  X:18,203,174...18,418,004
JBrowse link
G PHF7 PHD finger protein 7 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr13:34,553,818...34,565,647
Ensembl chr13:34,553,816...34,565,646
JBrowse link
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:31397523 NCBI chr13:83,307,692...83,434,133
Ensembl chr13:83,308,007...83,434,128
JBrowse link
G PLSCR4 phospholipid scramblase 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr13:86,542,279...86,573,665
Ensembl chr13:86,542,283...86,573,629
JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346
JBrowse link
G PRICKLE3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr  X:43,218,271...43,230,368
Ensembl chr  X:43,218,277...43,230,367
JBrowse link
G PRKCB protein kinase C beta ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27329761 NCBI chr 3:21,995,227...22,383,628
Ensembl chr 3:21,995,231...22,383,264
JBrowse link
G PTGDS prostaglandin D2 synthase ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,398...106,723,404
JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:8279480 PMID:25741868 PMID:28492532 PMID:32827185 NCBI chr 4:34,823,869...34,859,777
Ensembl chr 4:34,823,758...34,859,778
JBrowse link
G SCP2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:33713422 NCBI chr 6:159,191,045...159,314,985 JBrowse link
G SEMA3D semaphorin 3D ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 9:95,280,637...95,486,109
Ensembl chr 9:95,280,593...95,486,090
JBrowse link
G SLC12A2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:34374074 NCBI chr 2:131,016,430...131,109,307
Ensembl chr 2:131,016,418...131,109,299
JBrowse link
G SLC25A4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chr15:46,193,498...46,197,989
Ensembl chr15:46,193,746...46,200,987
JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15279074 PMID:16053392 PMID:17322586 NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062
JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO mRNA:decreased expression:organ of Corti (mouse) RGD PMID:19363478 RGD:9585667 NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730
JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 4:421,457...429,360
Ensembl chr 4:421,474...424,384
JBrowse link
G SLC7A14 solute carrier family 7 member 14 ISO MouseDO NCBI chr13:109,108,461...109,231,712
Ensembl chr13:109,115,006...109,231,433
JBrowse link
G SLC7A8 solute carrier family 7 member 8 ISO OMIM:304400 MouseDO NCBI chr 7:75,854,700...75,921,931
Ensembl chr 7:75,854,882...75,921,931
JBrowse link
G SLITRK6 SLIT and NTRK like family member 6 ISO OMIM:304400 MouseDO NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,767...56,522,197
JBrowse link
G SOD2 superoxide dismutase 2 ISO protein:increased activity:cochlea: RGD PMID:15109710 RGD:8547516 NCBI chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560
JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: sensorineural hearing loss disorder ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:115,017,704...115,020,601
Ensembl chr  X:115,019,232...115,020,578
JBrowse link
G SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr12:50,454,051...50,491,172
Ensembl chr12:50,454,063...50,491,164
JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:24472721 RGD:11554193 NCBI chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860
JBrowse link
G STRC stereocilin ISO RGD PMID:11687802 RGD:1599186 NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339
JBrowse link
G STX4 syntaxin 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:30311386 PMID:36355422 NCBI chr 3:17,422,266...17,431,377
Ensembl chr 3:17,416,842...17,431,053
JBrowse link
G TBX1 T-box transcription factor 1 ISO DNA:frameshift mutation:CDS:p.G387AfsX73 (human) RGD PMID:32110744 RGD:155641234 NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725
JBrowse link
G TCF19 transcription factor 19 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 7:23,558,326...23,562,074
Ensembl chr 7:23,558,353...23,562,072
JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder
ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274
JBrowse link
G TENM1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr  X:101,853,340...102,641,299
Ensembl chr  X:101,856,267...102,641,186
JBrowse link
G TFAM transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr14:92,261,713...92,279,731
Ensembl chr14:92,259,403...92,279,731
JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,819...85,017,820
JBrowse link
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chr13:29,623,905...29,633,016
Ensembl chr13:29,624,154...29,633,013
JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO DFNB10, OMIM:605316, DFNB8 OMIM:601072 RGD PMID:11137999 RGD:1599443 NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824
JBrowse link
G TNC tenascin C ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
JBrowse link
G TNF tumor necrosis factor ISO associated with Hearing Loss, Sensorineural;protein:increased expression:serum: RGD PMID:16988499 PMID:19684145 PMID:23165380 RGD:7387303 RGD:7394704 RGD:8142347 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,628...23,702,415
JBrowse link
G TOP1MT DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 4:1,134,179...1,188,149
Ensembl chr 4:1,148,890...1,188,130
JBrowse link
G TOP3A DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr12:60,443,592...60,468,968
Ensembl chr12:60,443,677...60,468,964
JBrowse link
G USH1C USH1 protein network component harmonin ISO RGD PMID:20211154 RGD:8695932 NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr10:5,825,591...6,662,733 JBrowse link
G USP31 ubiquitin specific peptidase 31 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 3:23,035,543...23,122,134
Ensembl chr 3:23,035,426...23,116,007
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:12107816 PMID:22238590 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
JBrowse link
G WHRN whirlin ISO RGD PMID:12833159 RGD:1580603 NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222
JBrowse link
G ZSCAN10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:38386308 NCBI chr 3:39,113,307...39,119,033
Ensembl chr 3:39,113,402...39,118,779
JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY OMIM
ClinVar
PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr 5:3,208,122...3,224,382
Ensembl chr 5:3,208,118...3,224,366
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 ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome OMIM
ClinVar
PMID:16155570 PMID:18412118 PMID:25741868 PMID:28492532 NCBI chr18:45,477,561...45,480,306
Ensembl chr18:45,477,461...45,480,152
JBrowse link
G HOXA2 homeobox A2 ISO ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome ClinVar PMID:25741868 NCBI chr18:45,470,079...45,473,345
Ensembl chr18:45,470,862...45,473,876
JBrowse link
Auditory Neuropathy 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 ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
JBrowse link
G CDH2 cadherin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:28492532 NCBI chr 6:112,396,713...112,629,073
Ensembl chr 6:112,396,721...112,628,432
JBrowse link
G FDXR ferredoxin reductase ISO ClinVar Annotator: match by term: Auditory dys-synchrony ClinVar PMID:25741868 PMID:28965846 PMID:29040572 NCBI chr12:6,372,224...6,382,769
Ensembl chr12:6,372,009...6,382,769
JBrowse link
G KIF5A kinesin family member 5A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 5:22,813,617...22,851,976
Ensembl chr 5:22,816,854...22,851,973
JBrowse link
G MFN2 mitofusin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 6:72,026,512...72,056,439
Ensembl chr 6:72,028,499...72,056,438
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
JBrowse link
G NEFL neurofilament light chain ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr14:8,991,321...8,996,900
Ensembl chr14:8,991,331...8,997,112
JBrowse link
G NOTCH3 notch receptor 3 ISO ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 NCBI chr 2:62,364,507...62,402,348
Ensembl chr 2:62,364,501...62,402,344
JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083
JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:18381613 PMID:19250381 PMID:22575033 PMID:25741868 PMID:26818607 More... NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,398...106,723,404
JBrowse link
G SLC52A3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr17:34,459,291...34,481,022
Ensembl chr17:34,459,359...34,481,026
JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30634948 NCBI chr  X:82,978,128...82,981,038
Ensembl chr  X:82,974,270...82,980,769
JBrowse link
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,105...127,347,068
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30818899 NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
JBrowse link
AURONEURODENTAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr13:32,793,784...32,794,650
Ensembl chr13:32,793,572...32,794,700
JBrowse link
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Auroneurodental syndrome ClinVar PMID:34805998 NCBI chr13:32,790,843...32,796,995
Ensembl chr13:32,790,850...32,796,563
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 ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition OMIM
ClinVar
PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 More... NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,844
JBrowse link
Autosomal Dominant Auditory Neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11A ATPase phospholipid transporting 11A ISO OMIM NCBI chr11:78,292,734...78,402,108
Ensembl chr11:78,293,469...78,402,083
JBrowse link
autosomal dominant auditory neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar
PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 More... NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168
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 ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy OMIM
ClinVar
PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr 2:68,981,564...69,040,364
Ensembl chr 2:68,981,566...69,029,844
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 ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 OMIM
ClinVar
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... NCBI chr 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761
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:20533261 PMID:23967202 More... NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750
JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss ClinVar PMID:25741868 PMID:33111345 NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,768,286...125,770,545
JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr14:30,498,885...30,519,846
Ensembl chr14:30,498,900...30,520,070
JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 PMID:32585897 NCBI chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625
JBrowse link
G LOC100621006 RE1-silencing transcription factor-like ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 PMID:34828371 NCBI chr 8:56,048,280...56,215,011
Ensembl chr 8:56,035,150...56,215,013
JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093
JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
JBrowse link
G P2RX2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:30311386 NCBI chr14:22,854,828...22,858,574
Ensembl chr14:22,854,828...22,858,386
JBrowse link
G PDE1C phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:29860631 NCBI chr18:40,818,316...41,410,555
Ensembl chr18:40,820,644...41,409,087
JBrowse link
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:30872814 PMID:31397523 NCBI chr13:83,307,692...83,434,133
Ensembl chr13:83,308,007...83,434,128
JBrowse link
G SIX1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:11295831 PMID:12955714 PMID:16648378 PMID:17492394 PMID:17603484 More... NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: DIAPH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME OMIM
ClinVar
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 2:143,158,691...143,271,110
Ensembl chr 2:143,158,585...143,271,147
JBrowse link
G ECSCR endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar PMID:28492532 NCBI chr 2:141,343,818...141,352,618
Ensembl chr 2:141,343,803...141,352,603
JBrowse link
G EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar PMID:28492532 NCBI chr 2:142,303,881...142,305,719
Ensembl chr 2:142,303,859...142,305,716
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders OMIM
ClinVar
PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 More... NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 11 OMIM
ClinVar
PMID:3130723 PMID:3442652 PMID:8900236 PMID:9002678 PMID:9354784 More... NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
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 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 OMIM
ClinVar
PMID:9536098 PMID:9590290 PMID:9949200 PMID:10196713 PMID:10987647 More... NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 13 OMIM
ClinVar
PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:16033917 More... NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,491...25,234,888
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 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 52 | ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition OMIM
ClinVar
PMID:9506947 PMID:12522684 PMID:14585957 PMID:18228599 PMID:19462854 More... NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346
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 PMID:25741868 PMID:26969326 NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339
JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274
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 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration OMIM
ClinVar
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
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 ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20 OMIM
ClinVar
PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217
JBrowse link
autosomal dominant nonsyndromic deafness 21 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 ClinVar Annotator: match by term: Deafness, autosomal dominant 21 OMIM
ClinVar
PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 NCBI chr 7:19,609,358...19,842,345
Ensembl chr 7:19,609,358...19,838,093
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 ISO ClinVar Annotator: match by term: DFNA 22 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:25,328,679...25,379,675
Ensembl chr15:25,328,674...25,383,652
JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 OMIM
ClinVar
PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 23 OMIM
ClinVar
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 25 | ClinVar Annotator: match by term: SLC17A8-related condition OMIM
ClinVar
PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr 5:83,741,641...83,809,472
Ensembl chr 5:83,741,715...83,800,808
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO OMIM:605583 MouseDO NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578
JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100621006 RE1-silencing transcription factor-like susceptibility ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 27 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 NCBI chr 8:56,048,280...56,215,011
Ensembl chr 8:56,035,150...56,215,013
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 28 OMIM
ClinVar
PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:35,368,788...35,565,394
Ensembl chr 4:35,371,136...35,564,919
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 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition OMIM
ClinVar
PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 More... NCBI chr 6:170,346,135...170,401,534
Ensembl chr 6:170,346,141...170,401,718
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 2b OMIM
ClinVar
PMID:9843210 PMID:12019212 PMID:16077902 PMID:19050930 PMID:21204020 More... NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
JBrowse link
autosomal dominant nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 30 ClinVar PMID:32519820 NCBI chr10:49,392,119...49,623,575 JBrowse link
autosomal dominant nonsyndromic deafness 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11A ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr11:78,292,734...78,402,108
Ensembl chr11:78,293,469...78,402,083
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,491...25,234,888
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation OMIM
ClinVar
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition OMIM
ClinVar
PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 More... NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar NCBI chr10:5,825,591...6,662,733 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 susceptibility ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 More... NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 3a OMIM
ClinVar
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000
JBrowse link
autosomal dominant nonsyndromic deafness 3B 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 dominant 3b ClinVar PMID:27480936 PMID:28492532 NCBI chr11:845,471...925,849
Ensembl chr11:845,475...931,648
JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr11:750,658...751,889
Ensembl chr11:750,658...751,800
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b OMIM
ClinVar
PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046
JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613
JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085
JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr11:1,104,270...1,208,144
Ensembl chr11:1,105,014...1,208,116
JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr11:1,054,816...1,095,118
Ensembl chr11:1,067,061...1,082,591
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 ClinVar Annotator: match by term: CRYM-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 40 OMIM
ClinVar
PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:24,815,010...24,835,837
Ensembl chr 3:24,815,010...24,835,836
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition OMIM
ClinVar
PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chr14:22,854,828...22,858,574
Ensembl chr14:22,854,828...22,858,386
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 ClinVar Annotator: match by term: CCDC50-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 44 OMIM
ClinVar
PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 More... NCBI chr13:128,619,223...128,690,964
Ensembl chr13:128,619,230...128,690,649
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chr 5:22,338,024...22,363,528
Ensembl chr 5:22,338,029...22,363,568
JBrowse link
autosomal dominant nonsyndromic deafness 4A 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:600652 MouseDO NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition OMIM
ClinVar
PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750
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 ClinVar Annotator: match by term: CEACAM16-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 4b OMIM
ClinVar
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 5 | ClinVar Annotator: match by term: GSDME-related condition OMIM
ClinVar
PMID:7427029 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17427029 More... NCBI chr18:47,524,637...47,583,748
Ensembl chr18:47,526,797...47,583,731
JBrowse link
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR96 microRNA mir-96 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 50 | ClinVar Annotator: match by term: MIR96-related condition OMIM
ClinVar
PMID:14757864 PMID:19363479 PMID:24033266 NCBI chr18:18,982,506...18,982,590
Ensembl chr18:18,982,506...18,982,590
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 ClinVar Annotator: match by term: CHROMOSOME 9q21.11 DUPLICATION SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar PMID:20602916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:222,474,518...222,612,989
Ensembl chr 1:222,474,639...222,612,983
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 chr 1:256,544,496...256,784,813
Ensembl chr 1:256,544,928...256,780,760
JBrowse link
G TNC tenascin C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition OMIM
ClinVar
PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073
JBrowse link
autosomal dominant nonsyndromic deafness 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNRIP1 cannabinoid receptor interacting protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 3:73,939,486...73,963,735
Ensembl chr 3:73,939,481...73,943,131
JBrowse link
G PLEK pleckstrin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 3:73,877,741...73,910,163
Ensembl chr 3:73,877,743...73,906,667
JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr 3:74,004,620...74,068,173
Ensembl chr 3:74,000,517...74,068,172
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 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 OMIM
ClinVar
PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 PMID:9771706 More... NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273
JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 ISO ClinVar Annotator: match by term: DIABLO-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 64 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:30,520,075...30,524,275
Ensembl chr14:30,520,077...30,523,060
JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: DIABLO-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 64 OMIM
ClinVar
PMID:21722859 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:30,498,885...30,519,846
Ensembl chr14:30,498,900...30,520,070
JBrowse link
autosomal dominant nonsyndromic deafness 65 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 dominant 65 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 More... NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
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 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 | ClinVar Annotator: match by term: CD164-related condition OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26197441 PMID:28492532 NCBI chr 1:75,441,568...75,458,140
Ensembl chr 1:75,441,575...75,458,145
JBrowse link
autosomal dominant nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OSBPL2 oxysterol binding protein like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 67 | ClinVar Annotator: match by term: OSBPL2-related condition OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:25759012 PMID:26467025 PMID:28492532 NCBI chr17:61,643,263...61,683,178
Ensembl chr17:61,643,377...61,685,819
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 68 | ClinVar Annotator: match by term: HOMER2-related condition OMIM
ClinVar
PMID:25741868 PMID:25816005 PMID:26467025 PMID:28492532 PMID:30047143 NCBI chr 7:52,001,253...52,104,426
Ensembl chr 7:52,001,579...52,096,828
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric OMIM
ClinVar
PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 NCBI chr 5:94,016,992...94,110,219
Ensembl chr 5:94,017,387...94,110,214
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 7 | ClinVar Annotator: match by term: LMX1A-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29754270 PMID:32840933 PMID:35711095 More... NCBI chr 4:85,403,287...85,570,738
Ensembl chr 4:85,406,223...85,571,443
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 70 | ClinVar Annotator: match by term: MCM2-related condition OMIM
ClinVar
PMID:25741868 PMID:26196677 PMID:26467025 PMID:28492532 PMID:29706348 NCBI chr13:72,630,378...72,651,270
Ensembl chr13:72,630,380...72,657,786
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 71 OMIM
ClinVar
PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 More... NCBI chr 1:120,138,249...120,298,603
Ensembl chr 1:120,138,336...120,298,586
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar
PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr 7:23,958,935...23,977,466
Ensembl chr 7:23,958,942...23,977,482
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 74 | ClinVar Annotator: match by term: PDE1C-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29860631 NCBI chr18:40,818,316...41,410,555
Ensembl chr18:40,820,644...41,409,087
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 75 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31231791 NCBI chr 3:5,903,205...6,029,343
Ensembl chr 3:5,909,022...6,029,333
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition OMIM
ClinVar
PMID:25124451 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 More... NCBI chr13:83,307,692...83,434,133
Ensembl chr13:83,308,007...83,434,128
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 ClinVar Annotator: match by term: ABCC1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31273342 NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 78 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30740830 PMID:32294086 PMID:32658972 More... NCBI chr 2:131,016,430...131,109,307
Ensembl chr 2:131,016,418...131,109,299
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 79 OMIM
ClinVar
PMID:31972369 NCBI chr 8:135,507,346...135,634,031
Ensembl chr 8:135,507,296...135,634,021
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 80 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29100090 PMID:29955957 PMID:32378186 More... NCBI chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 81 | ClinVar Annotator: match by term: ELMOD3-related condition OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532 PMID:29713870 NCBI chr 3:59,369,816...59,401,193
Ensembl chr 3:59,369,820...59,401,151
JBrowse link
autosomal dominant nonsyndromic deafness 82 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: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30535804 NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
JBrowse link
autosomal dominant nonsyndromic deafness 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP1B microtubule associated protein 1B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 83 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33268592 NCBI chr16:48,403,338...48,501,453
Ensembl chr16:48,403,568...48,498,885
JBrowse link
autosomal dominant nonsyndromic deafness 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11A ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar
OMIM
PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr11:78,292,734...78,402,108
Ensembl chr11:78,293,469...78,402,083
JBrowse link
autosomal dominant nonsyndromic deafness 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USP48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 85 OMIM
ClinVar
PMID:25741868 PMID:34059922 NCBI chr 6:79,744,928...79,810,241
Ensembl chr 6:79,744,932...79,810,220
JBrowse link
autosomal dominant nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THOC1 THO complex subunit 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 86 ClinVar
OMIM
PMID:32776944 NCBI chr 6:106,039,262...106,088,125
Ensembl chr 6:106,040,042...106,088,021
JBrowse link
autosomal dominant nonsyndromic deafness 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 87 | ClinVar Annotator: match by term: PI4KB-related condition ClinVar
OMIM
PMID:33358777 NCBI chr 4:97,918,234...97,949,929
Ensembl chr 4:97,918,245...97,949,931
JBrowse link
autosomal dominant nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPHA10 EPH receptor A10 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 88 OMIM
ClinVar
PMID:25741868 NCBI chr 6:93,764,732...93,804,069
Ensembl chr 6:93,765,128...93,803,894
JBrowse link
autosomal dominant nonsyndromic deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: ATOH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 89 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33111345 NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,768,286...125,770,545
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 ClinVar Annotator: match by term: COCH-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 9 OMIM
ClinVar
PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
JBrowse link
autosomal dominant nonsyndromic deafness 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 90 OMIM
ClinVar
PMID:25741868 PMID:26841241 PMID:28492532 PMID:29880844 PMID:34788109 NCBI chr10:49,392,119...49,623,575 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:25741868 PMID:28492532 PMID:28951997 PMID:30303587 NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748
JBrowse link
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 NCBI chr 9:6,685,934...6,689,913
Ensembl chr 9:6,685,939...6,689,256
JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO OMIM:607197 MouseDO NCBI chr 3:71,560,102...71,591,885
Ensembl chr 3:71,561,236...71,591,845
JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 PMID:16935888 More... NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580
JBrowse link
G C14H10orf105 chromosome 14 C10orf105 homolog ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022
JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr 2:5,014,888...5,020,705
Ensembl chr 2:5,014,810...5,020,775
JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30311386 NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23023331 PMID:24033266 PMID:25741868 PMID:26214305 PMID:26426422 More... NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399
JBrowse link
G CLCC1 chloride channel CLIC like 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 4:111,080,648...111,101,007
Ensembl chr 4:111,080,682...111,101,303
JBrowse link
G CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 6:75,178,914...75,192,670 JBrowse link
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 More... NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525
JBrowse link
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 7:40,683,044...40,808,017
Ensembl chr 7:40,682,907...40,863,886
JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:28492532 NCBI chr 3:71,020,143...71,237,658
Ensembl chr 3:71,020,144...71,246,967
JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884
JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113
JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591
JBrowse link
G ESRRB estrogen related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 NCBI chr 7:99,511,135...99,699,478
Ensembl chr 7:99,514,168...99,699,011
JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 2:75,082,048...75,090,145
Ensembl chr 2:75,083,362...75,089,756
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 More... NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542
JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:35802133 PMID:37074134 NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315
JBrowse link
G GPR156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:37814107 NCBI chr13:139,974,430...140,074,176
Ensembl chr13:140,007,711...140,074,166
JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20602914 PMID:22578326 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886
JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 2:147,215,061...147,231,792
Ensembl chr 2:147,216,279...147,232,478
JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:15641023 PMID:21255762 PMID:25741868 PMID:30303587 NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189
JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 More... NCBI chr 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406
JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 More... NCBI chr 7:31,624,050...31,642,269
Ensembl chr 7:31,624,450...31,642,268
JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:24033266 PMID:25741868 More... NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992
JBrowse link
G LRRC51 leucine rich repeat containing 51 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 9:6,663,122...6,673,272
Ensembl chr 9:6,663,134...6,673,271
JBrowse link
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:30303587 NCBI chr16:47,529,857...47,563,485
Ensembl chr16:47,530,068...47,563,482
JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,513...45,578,185
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chr 5:29,695,824...29,863,601
Ensembl chr 5:29,695,640...29,863,599
JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472
JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:16199547 PMID:17546645 PMID:17576681 PMID:19309289 More... NCBI chr12:60,533,502...60,582,645 JBrowse link
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 NCBI chr10:49,392,119...49,623,575 JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296
JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480
JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:19461658 More... NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104
JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 PMID:30311386 NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948
JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 5:101,099,525...101,318,254
Ensembl chr 5:101,100,282...101,251,884
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr14:95,530,168...96,388,032 JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:20440071 PMID:25741868 PMID:28492532 PMID:29048736 PMID:30311386 More... NCBI chr14:112,088,332...112,111,348 JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:24033266 More... NCBI chr15:84,157,864...84,165,763
Ensembl chr15:84,158,639...84,165,906
JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346
JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:84,134,273...84,156,596
Ensembl chr15:84,133,687...84,156,508
JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 PMID:30311386 NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334
JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097
JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062
JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730
JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:30303587 NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274
JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 More... NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469
JBrowse link
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 More... NCBI chr13:29,623,905...29,633,016
Ensembl chr13:29,624,154...29,633,013
JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:17551081 More... NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824
JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:20642360 PMID:38374469 NCBI chr 3:110,231,899...110,291,523
Ensembl chr 3:110,231,017...110,275,267
JBrowse link
G TOMT transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar
G TPRN taperin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20170899 PMID:30303587
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16385457 PMID:16385458 PMID:20510926 PMID:28492532 PMID:30303587 More... NCBI chr 5:10,066,080...10,132,668
Ensembl chr 5:10,066,086...10,126,491
JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247
JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr10:5,825,591...6,662,733 JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 100 | ClinVar Annotator: match by term: PPIP5K2-related condition OMIM
ClinVar
PMID:15538632 PMID:25741868 PMID:29590114 NCBI chr 2:108,596,733...108,690,859
Ensembl chr 2:108,585,959...108,690,858
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 101 | ClinVar Annotator: match by term: GRXCR2-related condition OMIM
ClinVar
PMID:24619944 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 2:147,215,061...147,231,792
Ensembl chr 2:147,216,279...147,232,478
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 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 102 | ClinVar Annotator: match by term: EPS8-related condition OMIM
ClinVar
PMID:24033266 PMID:24741995 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113
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 ClinVar Annotator: match by term: CLIC5-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 103 OMIM
ClinVar
PMID:24033266 PMID:24781754 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:40,683,044...40,808,017
Ensembl chr 7:40,682,907...40,863,886
JBrowse link
autosomal recessive nonsyndromic deafness 104 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 104 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
JBrowse link
G RIPOR2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition OMIM
ClinVar
PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:19,609,358...19,842,345
Ensembl chr 7:19,609,358...19,838,093
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 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113
JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 | ClinVar Annotator: match by term: EPS8L2-related condition OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26282398 PMID:28281779 More... NCBI chr 2:435,257...452,630
Ensembl chr 2:433,649...452,630
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 107 | ClinVar Annotator: match by term: WBP2-related condition OMIM
ClinVar
PMID:25741868 PMID:26881968 PMID:28492532 NCBI chr12:5,565,112...5,573,277
Ensembl chr12:5,565,137...5,573,274
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 108 | ClinVar Annotator: match by term: ROR1-related condition OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:27162350 PMID:28492532 NCBI chr 6:148,314,575...148,834,659
Ensembl chr 6:148,315,286...148,761,524
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 109 | ClinVar Annotator: match by term: ESRP1-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29107558 NCBI chr 4:41,993,944...42,061,706
Ensembl chr 4:41,993,948...42,061,236
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 110 OMIM
ClinVar
PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 More... NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,513...45,578,185
JBrowse link
G PEX2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111 ClinVar PMID:9452066 PMID:10528859 PMID:10652207 PMID:14630978 PMID:15542397 More... NCBI chr 4:59,252,330...59,270,117
Ensembl chr 4:59,252,337...59,270,116
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 ClinVar Annotator: match by term: BDP1-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 112 OMIM
ClinVar
PMID:24312468 PMID:25741868 PMID:26467025 NCBI chr16:47,801,273...47,909,513
Ensembl chr16:47,801,315...47,908,851
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 113 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761
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 ClinVar Annotator: match by term: Hearing loss, autosomal recessive 114 OMIM
ClinVar
PMID:25741868 PMID:30610177 NCBI chr12:60,261,560...60,281,886
Ensembl chr12:60,260,981...60,281,884
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 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Hearing loss, autosomal recessive 115 | ClinVar Annotator: match by term: SPNS2-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr12:50,454,051...50,491,172
Ensembl chr12:50,454,063...50,491,164
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 ClinVar Annotator: match by term: CLDN9-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 116 OMIM
ClinVar
PMID:25741868 PMID:30311386 PMID:31175426 PMID:34265170 PMID:35802133 More... NCBI chr 3:39,172,731...39,181,827
Ensembl chr 3:39,172,853...39,174,354
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 ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 OMIM
ClinVar
PMID:25741868 PMID:33496845 PMID:38243601 NCBI chr 8:12,551,855...12,564,512
Ensembl chr 8:12,551,892...12,564,379
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG2B AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar
PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 NCBI chr 1:126,314,573...126,335,193
Ensembl chr 1:126,313,402...126,335,475
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 ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of OMIM
ClinVar
PMID:15829536 PMID:22047666 PMID:25741868 PMID:26467025 PMID:27535533 More... NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128
JBrowse link
G C14H10orf105 chromosome 14 C10orf105 homolog ISO ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022
JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 OMIM
ClinVar
PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:24367894 PMID:25741868 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846
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 chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763
JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:25741868 NCBI chr14:74,667,081...74,693,347
Ensembl chr14:74,666,624...74,693,281
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 120 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MINAR2 membrane integral NOTCH2 associated receptor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 OMIM
ClinVar
PMID:35727972 NCBI chr 2:132,413,265...132,428,786
Ensembl chr 2:132,416,040...132,428,922
JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chr 2:51,317,538...51,534,246
Ensembl chr 2:51,285,488...51,534,236
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 121 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 121 OMIM
ClinVar
PMID:25741868 PMID:37814107 NCBI chr13:139,974,430...140,074,176
Ensembl chr13:140,007,711...140,074,166
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 122 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 122 OMIM
ClinVar
PMID:37943620 NCBI chr11:69,361,219...69,442,769
Ensembl chr11:69,361,229...69,443,039
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 123 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STX4 syntaxin 4 ISO OMIM NCBI chr 3:17,422,266...17,431,377
Ensembl chr 3:17,416,842...17,431,053
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 124 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PKHD1L1 PKHD1 like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 ClinVar
OMIM
PMID:38459354 NCBI chr 4:28,023,448...28,176,331
Ensembl chr 4:28,025,587...28,176,361
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 125 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAS2 growth arrest specific 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 125 OMIM
ClinVar
PMID:33964205 NCBI chr 2:36,712,758...36,885,436
Ensembl chr 2:36,711,612...36,885,620
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 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 | ClinVar Annotator: match by term: GIPC3-related condition OMIM
ClinVar
PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:23510777 More... NCBI chr 2:75,082,048...75,090,145
Ensembl chr 2:75,083,362...75,089,756
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 chr 1:127,814,349...127,831,023
Ensembl chr 1:127,814,376...127,829,109
JBrowse link
G CKMT1A creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 1:127,852,533...127,859,066 JBrowse link
G FRMD5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 1:127,317,660...127,653,112
Ensembl chr 1:127,317,701...127,650,665
JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196
JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 1:127,865,487...127,915,501
Ensembl chr 1:127,865,562...127,915,451
JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition OMIM
ClinVar
PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18