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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:Hearing loss resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM.
Synonyms:exact_synonym: SENSORINEURAL HEARING LOSS DISORDER;   central hearing loss;   cochlear hearing loss;   perceptive deafness;   perceptive hearing loss;   perceptive hearing loss or deafness;   sensorineural deafness;   sensory hearing loss
 narrow_synonym: CONGENITAL SENSORINEURAL HEARING IMPAIRMENT;   PROGRESSIVE SENSORINEURAL HEARING IMPAIRMENT;   autosomal dominant deafness with peripheral neuropathy;   bilateral sensorineural hearing impairment
 primary_id: MESH:D006319
 xref: ICD9CM:389.1;   NCI:C26739;   NCI:C34662
For additional species annotation, visit the Alliance of Genome Resources.


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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 chr12:13,715,843...13,718,813
Ensembl chr12:13,715,843...13,718,841
JBrowse link
G Adprs ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 5:144,336,312...144,341,586
Ensembl chr 5:144,336,312...144,341,586
JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:32219868 NCBI chr18:63,141,418...63,185,510
Ensembl chr18:63,141,418...63,185,510
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25590979, PMID:25741868, PMID:28967629, PMID:31523922 NCBI chr  X:135,304,063...135,343,062
Ensembl chr  X:135,304,066...135,343,087
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:17454231 RGD:7771593 NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:95,498,003...95,500,098
Ensembl chr 4:95,498,003...95,500,089
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 2:204,003,742...204,032,023
Ensembl chr 2:204,003,742...204,032,023
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr13:82,737,161...82,757,681
Ensembl chr13:82,737,159...82,758,004
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:157,094,365...157,126,397
Ensembl chr  X:157,095,937...157,126,393
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA,protein:increased expression:inferior colliculus: RGD PMID:20598895 RGD:8655560 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 6:137,762,230...137,808,573
Ensembl chr 6:137,765,122...137,808,303
JBrowse link
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 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
JBrowse link
G Cat catalase IEP RGD PMID:15109710 RGD:8547516 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Cdc14a cell division cycle 14A ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868, PMID:27259055, PMID:29293958 NCBI chr 2:219,302,577...219,458,345
Ensembl chr 2:219,302,577...219,458,271
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: sensorineural hearing loss disorder ClinVar PMID:22899989, PMID:25963016, PMID:26346818, PMID:26763877, PMID:28492532 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:27588452, PMID:28492532 NCBI chr 1:233,185,815...233,214,876
Ensembl chr 1:233,186,989...233,214,758
JBrowse link
G Clcn3 chloride voltage-gated channel 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr16:32,448,821...32,520,649
Ensembl chr16:32,449,116...32,519,148
JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO Bartter syndrome type 4, OMIM:602522, C80W RGD PMID:15044642 RGD:1300378 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: HEARING LOSS, SENSORINEURAL
CTD
ClinVar
PMID:16637051, PMID:25741868 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: sensorineural hearing loss disorder ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16189708 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:17216251, PMID:25741868, PMID:26467025, PMID:26809805, PMID:27859054, PMID:28492532, PMID:30311386 NCBI chr 9:88,314,763...88,357,183
Ensembl chr 9:88,232,455...88,357,182
JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:11223851, PMID:30311386 NCBI chr  X:112,769,595...112,983,720
Ensembl chr  X:112,769,645...112,983,685
JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16909383 NCBI chr 9:30,419,001...30,502,307
Ensembl chr 9:30,419,001...30,502,298
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 3:176,102,287...176,124,839
Ensembl chr 3:176,102,351...176,124,306
JBrowse link
G Dcaf8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:30311386 NCBI chr13:90,532,153...90,587,542
Ensembl chr13:90,532,326...90,591,796
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 chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
JBrowse link
G Dpt dermatopontin ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr13:83,073,307...83,102,404
Ensembl chr13:83,073,544...83,102,401
JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:30311386 NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
G Ednrb endothelin receptor type B IAGP DNA:mutation:cds: RGD PMID:21915282 RGD:6480217 NCBI chr15:88,004,775...88,036,354
Ensembl chr15:88,006,977...88,036,354
JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 RGD:6480217
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:25762674 RGD:11567237 NCBI chr16:8,734,028...8,804,610
Ensembl chr16:8,734,035...8,804,610
JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO associated with Cockayne Syndrome RGD PMID:25762674 RGD:11567237 NCBI chr 2:39,434,617...39,473,392
Ensembl chr 2:39,434,634...39,472,017
JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 5:169,293,356...169,331,338
Ensembl chr 5:169,293,904...169,331,163
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO DNA:deletion:introns, exon (human) RGD PMID:15735644 RGD:1598455 NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
JBrowse link
G F2 coagulation factor II no_association ISO DNA:transition: :20210G>A (human)
associated with Stroke
DNA:transition: :20210G>A(human)
RGD PMID:17334320, PMID:18636032, PMID:16572609 RGD:7387261, RGD:7387268, RGD:7387240 NCBI chr 3:80,529,468...80,542,993
Ensembl chr 3:80,529,428...80,543,031
JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation
DNA:transition: :1691G>A (human)
DNA:SNP: :1691G>A (human)
RGD PMID:16015153, PMID:17334320, PMID:16572609 RGD:7387260, RGD:7387261, RGD:7387240 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Fadd Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:217,746,176...217,748,581
Ensembl chr 1:217,742,929...217,748,628
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:218,003,018...218,006,942
Ensembl chr 1:218,003,018...218,006,942
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar NCBI chr10:27,310,718...27,371,802
Ensembl chr10:27,310,725...27,366,665
JBrowse link
G Gabrr2 gamma-aminobutyric acid type A receptor subunit rho 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 5:48,303,366...48,341,571
Ensembl chr 5:48,303,366...48,341,642
JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 RGD PMID:10935639 RGD:1358706 NCBI chr17:72,419,752...72,452,043
Ensembl chr17:72,429,618...72,450,681
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 chr20:27,832,960...27,879,764
Ensembl chr20:27,832,932...27,879,759
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr17:53,956,185...53,971,039
Ensembl chr17:53,956,203...53,971,443
JBrowse link
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:23510777, PMID:24033266, PMID:25741868 NCBI chr 7:11,245,160...11,253,080
Ensembl chr 7:11,245,875...11,250,708
JBrowse link
G Gjb2 gap junction protein, beta 2 IEP
ISO
protein:increased expression:cochlea:
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2706105, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9819448, PMID:10204859, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10782932, PMID:10807696, PMID:10982180, PMID:10982182, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11556849, PMID:11668644, PMID:11788148, PMID:11912510, PMID:11918723, PMID:12072059, PMID:12081719, PMID:12167443, PMID:12172392, PMID:12176036, PMID:12189493, PMID:12239718, PMID:12457154, PMID:12522556, PMID:12548749, PMID:12560944, PMID:12562518, PMID:12684873, PMID:12746422, PMID:12786762, PMID:12833397, PMID:12865758, PMID:14070830, PMID:14722929, PMID:14985372, PMID:14986832, PMID:15040442, PMID:15070423, PMID:15091236, PMID:15113126, PMID:15146474, PMID:15235031, PMID:15241677, PMID:15359540, PMID:15365987, PMID:15482471, PMID:15617546, PMID:15633193, PMID:15666300, PMID:15700112, PMID:15769851, PMID:15954104, PMID:15967879, PMID:16088916, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16380907, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16868655, PMID:17330861, PMID:17426645, PMID:17428550, PMID:17553572, PMID:17581693, PMID:17660464, PMID:17993581, PMID:18294064, PMID:18414213, PMID:18472371, PMID:18804553, PMID:18843290, PMID:18925674, PMID:18941476, PMID:18985073, PMID:18987669, PMID:19043807, PMID:19101659, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19715472, PMID:19925344, PMID:19929408, PMID:20022641, PMID:20073550, PMID:20086306, PMID:20201936, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20497192, PMID:20668687, PMID:20708129, PMID:20739944, PMID:20815033, PMID:21056478, PMID:21112098, PMID:21366436, PMID:21465647, PMID:21468573, PMID:21910243, PMID:22037723, PMID:22281373, PMID:22389666, PMID:22498363, PMID:22567152, PMID:22613756, PMID:22695344, PMID:22701767, PMID:22855627, PMID:22975760, PMID:22981120, PMID:23477838, PMID:23489192, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23757202, PMID:23900770, PMID:24013081, PMID:24033266, PMID:24158611, PMID:24256046, PMID:24346070, PMID:24774219, PMID:25085072, PMID:25266519, PMID:25288386, PMID:25388846, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26061264, PMID:26095810, PMID:26178431, PMID:26188157, PMID:26330914, PMID:26467025, PMID:26553399, PMID:26749107, PMID:26940866, PMID:26969326, PMID:27057829, PMID:27792752, PMID:27884173, PMID:28271504, PMID:28489599, PMID:28492532, PMID:29362677, PMID:29501291, PMID:30311386, PMID:30344259, PMID:30872814, PMID:23827367 RGD:7349365 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy
CTD
ClinVar
PMID:11309368, PMID:12165562, PMID:15276679, PMID:19050930, PMID:19197336, PMID:19755382, PMID:21204020, PMID:22681493, PMID:24913888, PMID:26467025 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gjc3 gap junction protein, gamma 3 ISO RGD PMID:16481432 RGD:1578421 NCBI chr12:19,166,074...19,177,701
Ensembl chr12:19,166,239...19,167,015
JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human)
DNA:nonsense mutation:cds:p.R127X(human)
RGD PMID:21348867, PMID:20602914 RGD:11552574, RGD:11552577 NCBI chr 2:211,480,120...211,528,096
Ensembl chr 2:211,480,400...211,527,919
JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 7:76,058,623...76,197,360
Ensembl chr 7:76,059,386...76,197,856
JBrowse link
G Gsdme gasdermin E ISO DNA:deletion:intron
ClinVar Annotator: match by term: Sensorineural hearing loss
ClinVar PMID:25741868, PMID:9771715 RGD:1599770 NCBI chr 4:79,934,075...79,999,678
Ensembl chr 4:79,934,887...79,989,572
JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar NCBI chr18:29,629,203...29,638,460
Ensembl chr18:29,629,184...29,638,721
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 7:61,337,383...61,341,419
Ensembl chr 7:61,337,381...61,341,419
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:9693304 RGD:8662926 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr11:67,004,042...67,037,115
Ensembl chr11:67,004,042...67,037,115
JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:snp:cds:c.807C>T (rs1126643) (human) RGD PMID:22948415 RGD:8686432 NCBI chr 2:46,996,904...47,097,011
Ensembl chr 2:47,000,323...47,096,961
JBrowse link
G Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar NCBI chr19:44,212,205...44,231,209
Ensembl chr19:44,212,206...44,231,157
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO autosomal dominant non-syndromic sensorineural deafness 2, OMIM:600101 RGD PMID:10369879 RGD:1600303 NCBI chr 5:139,625,783...139,677,300
Ensembl chr 5:139,627,576...139,677,300
JBrowse link
G Kl Klotho ISO RGD PMID:21167925 RGD:10403058 NCBI chr12:942,974...987,206
Ensembl chr12:943,006...987,551
JBrowse link
G Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr18:36,524,013...36,579,471
Ensembl chr18:36,524,007...36,579,403
JBrowse link
G Lmx1a LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:29971487 NCBI chr13:85,916,753...86,061,534
Ensembl chr13:85,918,252...86,061,176
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds: RGD PMID:23246423 RGD:8693695 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:25741868, PMID:29407415 NCBI chr 4:130,172,484...130,425,496
Ensembl chr 4:130,172,727...130,425,532
JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: HEARING LOSS, SENSORINEURAL ClinVar PMID:28027978 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278
JBrowse link
G Myh14 myosin heavy chain 14 ISO DFNA4, OMIM:600652, DNA:point mutation:exon:S7X
ClinVar Annotator: match by term: SENSORINEURAL HEARING LOSS
ClinVar PMID:25741868, PMID:15015131 RGD:1600531 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
G Myh9 myosin, heavy chain 9 disease_progression ISO associated with MYH9-Related Disorders;DNA:mutations:cds:
ClinVar Annotator: match by term: Sensorineural hearing loss
ClinVar PMID:11590545, PMID:11935325, PMID:25741868, PMID:30311386, PMID:31064749, PMID:26226608 RGD:11533922 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Myo15a myosin XVA ISO DFNB3, OMIM:600316, DNA:point mutation:exon:I892F
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment
ClinVar PMID:24033266, PMID:24875298, PMID:25741868, PMID:26969326, PMID:9603736 RGD:1600554 NCBI chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
JBrowse link
G Myo1a myosin IA ISO DFNA48, OMIM:607841 RGD PMID:12736868 RGD:1600218 NCBI chr 7:71,000,299...71,019,386
Ensembl chr 7:71,004,417...71,019,372
JBrowse link
G Myo1f myosin IF ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 7:18,440,742...18,491,448
Ensembl chr 7:18,440,742...18,491,448
JBrowse link
G Myo6 myosin VI ISO DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y RGD PMID:11468689 RGD:1600556 NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
JBrowse link
G Myo7a myosin VIIA ISO DNA:missense mutation:exon:c.5660C>T (p.P1887L) (human)
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment
ClinVar PMID:16449806, PMID:24033266, PMID:28802369, PMID:24194196 RGD:8694138 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Ngf nerve growth factor ISO protein:decreased expression:serum: RGD PMID:14587217 RGD:8655553 NCBI chr 2:204,886,158...204,939,523
Ensembl chr 2:204,886,202...204,940,453
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:30311386 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 1:264,776,393...264,796,206
Ensembl chr 1:264,776,398...264,794,938
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:19877282, PMID:25079577, PMID:25741868 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO DNA:mutations:cds: RGD PMID:15029877 RGD:11556244 NCBI chr  X:40,460,047...40,717,982
Ensembl chr  X:40,460,047...40,717,982
JBrowse link
G Phf7 PHD finger protein 7 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr16:7,323,527...7,336,609
Ensembl chr16:7,323,520...7,336,335
JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:30311386 NCBI chr18:36,713,869...36,716,461
Ensembl chr18:36,713,869...36,716,461
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:15,682,652...15,693,473
Ensembl chr  X:15,682,653...15,693,473
JBrowse link
G Prkcb protein kinase C, beta ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27329761 NCBI chr 1:192,233,569...192,575,339
Ensembl chr 1:192,233,910...192,574,831
JBrowse link
G Prx periaxin ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:25741868, PMID:30311386 NCBI chr 1:84,302,074...84,324,560
Ensembl chr 1:84,304,228...84,324,560
JBrowse link
G Ptgds prostaglandin D2 synthase IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 3:2,686,125...2,689,059
Ensembl chr 3:2,686,123...2,689,084
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:11992261, PMID:12058348, PMID:12161596, PMID:14634749, PMID:15121796, PMID:15389709, PMID:15520399, PMID:16053901, PMID:16358218, PMID:16377799, PMID:16638574, PMID:16679933, PMID:17020470, PMID:18372317, PMID:18849586, PMID:19725129, PMID:19768645, PMID:20308328, PMID:21339643, PMID:21747628, PMID:22681964, PMID:22822385, PMID:23673659, PMID:24033266, PMID:24401936, PMID:24775816, PMID:24820750, PMID:24935154, PMID:25731833, PMID:25741868, PMID:25917897, PMID:26337637, PMID:26918529, PMID:28483241, PMID:28492532, PMID:29276006, PMID:30311386 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 7:49,763,657...50,034,932
Ensembl chr 7:49,763,657...50,034,932
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25590979, PMID:25741868, PMID:28967629, PMID:31523922 NCBI chr  X:135,348,799...135,360,204
Ensembl chr  X:135,348,436...135,360,203
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphisms:cds:HLA-Bw54 (human) RGD PMID:2909230 RGD:7365120
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*0301(human) RGD PMID:8712634 RGD:7365101 NCBI chr20:4,087,621...4,097,190
Ensembl chr20:4,087,618...4,097,190
JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 4:19,224,378...19,413,519
Ensembl chr 4:19,224,310...19,413,484
JBrowse link
G Slc12a2 solute carrier family 12 member 2 IEP
ISO
protein:decreased expression:cochlea:
ClinVar Annotator: match by term: Sensorineural hearing loss
ClinVar PMID:25741868, PMID:23827367 RGD:7349365 NCBI chr18:52,917,124...52,985,281
Ensembl chr18:52,917,124...52,985,261
JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:16155110, PMID:25741868, PMID:30311386 NCBI chr16:49,266,903...49,270,698
Ensembl chr16:49,266,903...49,270,698
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 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
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 4:9,795,811...9,860,904
Ensembl chr 4:9,821,541...9,860,571
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISS OMIM:304400 MouseDO NCBI chr15:33,369,245...33,428,942
Ensembl chr15:33,369,216...33,428,973
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISS OMIM:304400 MouseDO NCBI chr15:95,507,632...95,514,259
Ensembl chr15:95,507,640...95,514,259
JBrowse link
G Sod2 superoxide dismutase 2 IEP protein:increased activity:cochlea: RGD PMID:15109710 RGD:8547516 NCBI chr 1:47,914,757...47,921,587
Ensembl chr 1:47,914,759...47,921,587
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:24472721 RGD:11554193 NCBI chr 3:153,547,807...153,595,643
Ensembl chr 3:153,580,861...153,595,642
JBrowse link
G Strc stereocilin ISO RGD PMID:11687802 RGD:1599186 NCBI chr 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675
JBrowse link
G Tecta tectorin alpha ISO autosomal dominant nonsyndromic sensorineural deafness DFNA12, OMIM:601842 and DFNA8, OMIM:601543
ClinVar Annotator: match by term: Sensorineural hearing loss
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment
autosomal recessive sensorineural nonsyndromic deafness DFNB21, OMIM:603629
ClinVar PMID:21520338, PMID:24033266, PMID:25741868, PMID:9590290, PMID:9949200 RGD:1599380, RGD:1599381 NCBI chr 8:46,603,728...46,675,658
Ensembl chr 8:46,603,728...46,675,544
JBrowse link
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr20:18,594,057...18,606,106
Ensembl chr20:18,594,037...18,606,151
JBrowse link
G Tmc1 transmembrane channel-like 1 ISO DFNA36, OMIM:606705, DFNB7, OMIM:600974
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment
ClinVar PMID:24033266, PMID:24875298, PMID:27068579, PMID:30311386, PMID:11850618 RGD:1599440 NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
JBrowse link
G Tmie transmembrane inner ear ISO DFNB6, OMIM:600971 RGD PMID:12145746 RGD:1599441 NCBI chr 8:119,142,116...119,157,071
Ensembl chr 8:119,142,434...119,157,071
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO DFNB10, OMIM:605316, DFNB8 OMIM:601072 RGD PMID:11137999 RGD:1599443 NCBI chr20:9,910,522...9,929,705
Ensembl chr20:9,910,522...9,929,705
JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment
ClinVar Annotator: match by term: Sensorineural hearing loss
ClinVar PMID:25741868, PMID:30311386 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
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:8142347, RGD:7394704 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 7:116,688,801...116,714,421
Ensembl chr 7:116,688,701...116,712,387
JBrowse link
G Tshz1 teashirt zinc finger homeobox 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:30311386 NCBI chr18:80,860,995...80,907,744
Ensembl chr18:80,862,372...80,865,584
JBrowse link
G Ufm1 ubiquitin-fold modifier 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868, PMID:28931644, PMID:30311386, PMID:32860008 NCBI chr 2:143,096,268...143,104,412
Ensembl chr 2:143,096,271...143,104,412
JBrowse link
G Ush1c USH1 protein network component harmonin susceptibility ISO DNA:splice-site mutation, frameshift mutation RGD PMID:10973247, PMID:20211154 RGD:1600453, RGD:8695932 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Sensorineural hearing loss
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment
ClinVar PMID:15015129, PMID:16963483, PMID:18273898, PMID:18463160, PMID:18641288, PMID:19683999, PMID:19881469, PMID:21569298, PMID:22135276, PMID:24033266, PMID:25262649, PMID:25333064, PMID:25575603, PMID:25741868, PMID:26927203, PMID:27460420, PMID:28041643, PMID:28492532, PMID:29293505, PMID:30311386, PMID:30718709 NCBI chr13:106,750,738...107,434,195
Ensembl chr13:106,751,625...107,427,329
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations: :multiple
DNA:missense mutation:cds:p.R456H (rs1801206) (human)
associated with Diabetes Mellitus, Type 2
RGD PMID:11709537, PMID:23595122, PMID:12107816 RGD:8694398, RGD:8694404, RGD:8694401 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
G Whrn whirlin ISO RGD PMID:12833159 RGD:1580603 NCBI chr 5:79,235,541...79,317,206
Ensembl chr 5:79,234,950...79,317,206
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: Aminoglycoside-induced deafness ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:10577941, PMID:16152638, PMID:17659260, PMID:20301595 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of OMIM
ClinVar
PMID:8817331, PMID:28049726 NCBI chr 7:126,756,140...126,772,749
Ensembl chr 7:126,756,151...126,772,749
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: Bosley-Salih-Alorainy syndrome
ClinVar Annotator: match by term: Bosley Salih Alorainy syndrome
ClinVar Annotator: match by term: Athabaskan Brainstem Dysgenesis Syndrome
ClinVar Annotator: match by synonym: Bosley-Salih-Alorainy syndrome
DNA:mutations:cds:185delG,175-176insG,76C>T(human)
ClinVar Annotator: match by OMIM:601536
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:16155570, PMID:18412118, PMID:24239177, PMID:25741868, PMID:28492532, PMID:18412118 RGD:11553818 NCBI chr 4:82,124,358...82,127,182
Ensembl chr 4:82,125,406...82,127,066
JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar NCBI chr 4:82,130,441...82,134,846
Ensembl chr 4:82,131,329...82,133,605
JBrowse link
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:28965846 NCBI chr10:103,817,724...103,826,413
Ensembl chr10:103,817,704...103,826,448
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, autosomal dominant, 1
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:20624953, PMID:25741868, PMID:28492532 NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
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: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
ClinVar Annotator: match by OMIM:604121
OMIM
ClinVar
PMID:8747854, PMID:22328086, PMID:25741868 NCBI chr 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
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: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human)
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:30311386, PMID:11175790 RGD:12910984 NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131, PMID:15845534, PMID:16222661, PMID:23967202, PMID:24033266, PMID:24082139, PMID:25741868, PMID:26284702, PMID:26346818, PMID:26467025, PMID:27393652, PMID:28492532, PMID:30311386, PMID:30828794 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr 4:145,704,779...145,948,997
Ensembl chr 4:145,703,046...146,016,325
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr18:1,537,315...1,784,260
Ensembl chr18:1,723,565...1,784,233
JBrowse link
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chr 4:86,359,762...86,925,044
Ensembl chr 4:86,359,820...86,630,543
JBrowse link
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:31397523 NCBI chr 8:103,557,361...103,659,625
Ensembl chr 8:103,557,364...103,608,913
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
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9360932, PMID:22938506, PMID:23804846, PMID:24033266, PMID:25342930, PMID:25741868, PMID:26011067, PMID:26467025, PMID:26912466, PMID:27707755, PMID:27808407, PMID:27911912, PMID:28492532, PMID:28815995, PMID:30311386 NCBI chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
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 OMIM:601316
OMIM
ClinVar
PMID:11159937, PMID:15735644, PMID:17567890, PMID:17568404, PMID:23861362, PMID:23990876, PMID:24033266, PMID:25681523, PMID:25741868, PMID:25781927, PMID:28492532, PMID:28798025, PMID:30165862, PMID:30828794 NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
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
ClinVar Annotator: match by OMIM:601317
OMIM
ClinVar
PMID:3130723, PMID:7870171, PMID:8776602, PMID:8900236, PMID:9171833, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10425080, PMID:10447383, PMID:10930322, PMID:12112664, PMID:15043528, PMID:15121790, PMID:15221449, PMID:15300860, PMID:15660226, PMID:16400615, PMID:16449806, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:17960123, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20613545, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22785243, PMID:23226338, PMID:23237960, PMID:23383098, PMID:23451214, PMID:23451239, PMID:23770805, PMID:23804846, PMID:24033266, PMID:24105371, PMID:24199935, PMID:24498627, PMID:24618850, PMID:24831256, PMID:24875298, PMID:25262649, PMID:25333064, PMID:25468891, PMID:25558175, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26309859, PMID:26338283, PMID:26467025, PMID:26791358, PMID:26969326, PMID:27068579, PMID:27344577, PMID:27460420, PMID:27610647, PMID:27729122, PMID:27766948, PMID:27911912, PMID:28041643, PMID:28492532, PMID:28802369, PMID:29490346, PMID:30245029, PMID:30311386, PMID:30718709 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
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
ClinVar Annotator: match by OMIM:601543
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9150164, PMID:9590290, PMID:10196713, PMID:10987647, PMID:11333869, PMID:12021773, PMID:12162770, PMID:12746400, PMID:16718611, PMID:17431902, PMID:17661817, PMID:18022253, PMID:18575463, PMID:18797289, PMID:20947814, PMID:21520338, PMID:21917145, PMID:22718023, PMID:22980975, PMID:23967202, PMID:24033266, PMID:24586623, PMID:25262649, PMID:25741868, PMID:26467025, PMID:27068579, PMID:27627659, PMID:28000701, PMID:28492532, PMID:29196752, PMID:30311386, PMID:31163360 NCBI chr 8:46,603,728...46,675,658
Ensembl chr 8:46,603,728...46,675,544
JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13 ClinVar PMID:1157798, PMID:11802208, PMID:12161611, PMID:15744030, PMID:15923272, PMID:16489001, PMID:17403394, PMID:18036263, PMID:19404736, PMID:20516115, PMID:21702907, PMID:22034289, PMID:22889855, PMID:23867111, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26287763, PMID:26467025, PMID:26689913, PMID:27495310, PMID:28024868, PMID:28492532, PMID:28781887, PMID:30209399, PMID:30263132, PMID:30458859 NCBI chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13
ClinVar Annotator: match by OMIM:601868
OMIM
ClinVar
PMID:10581026, PMID:15372529, PMID:24033266, PMID:25633957, PMID:25741868 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
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 15
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:602459
OMIM
ClinVar
PMID:9506947, PMID:14585957, PMID:18228599, PMID:20434433, PMID:24033266, PMID:24260153, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29850532, PMID:30311386 NCBI chr18:36,713,869...36,716,461
Ensembl chr18:36,713,869...36,716,461
JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502, PMID:24033266 NCBI chr 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675
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 17
OMIM
ClinVar
PMID:9390828, PMID:11023810, PMID:11590545, PMID:11752022, PMID:12533692, PMID:16969870, PMID:17146397, PMID:18059020, PMID:18676005, PMID:19557653, PMID:20588287, PMID:22123909, PMID:22477015, PMID:22995991, PMID:23144074, PMID:23349334, PMID:23409987, PMID:23804846, PMID:24033266, PMID:24130771, PMID:24186861, PMID:24643058, PMID:24890873, PMID:25077172, PMID:25505834, PMID:25741868, PMID:25752595, PMID:25949529, PMID:26226608, PMID:26346198, PMID:26467025, PMID:26969326, PMID:27068579, PMID:28059092, PMID:28492532, PMID:29090586, PMID:30311386, PMID:30720677, PMID:31064749 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
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: Deafness, autosomal dominant 20
ClinVar Annotator: match by OMIM:604717
OMIM
ClinVar
PMID:5654493, PMID:12519370, PMID:13680526, PMID:14684684, PMID:16773128, PMID:19477959, PMID:22366783, PMID:24033266, PMID:25741868, PMID:25792668, PMID:26467025, PMID:28000701, PMID:28492532 NCBI chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 22
ClinVar Annotator: match by OMIM:606346
OMIM
ClinVar
PMID:11167014, PMID:11468689, PMID:12687499, PMID:15123708, PMID:18212818, PMID:18348273, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532 NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
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
ClinVar Annotator: match by OMIM:605192
OMIM
ClinVar
PMID:10777717, PMID:12843324, PMID:15141091, PMID:16971658, PMID:19497856, PMID:21280147, PMID:21700001, PMID:24033266, PMID:25326635, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
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 OMIM
ClinVar
PMID:18674745, PMID:23967202, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 7:30,215,231...30,274,993
Ensembl chr 7:30,216,104...30,274,984
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISS OMIM:605583 MouseDO NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 27 OMIM
ClinVar
PMID:29961578 NCBI chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
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 DNA:nonsense mutation:exon:
ClinVar Annotator: match by OMIM:608641
ClinVar
OMIM
PMID:12393799, PMID:23813623, PMID:12393799 RGD:1599382 NCBI chr 7:76,058,623...76,197,360
Ensembl chr 7:76,059,386...76,197,856
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: DFNA 2 Nonsyndromic Hearing Loss
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 2A
ClinVar Annotator: match by OMIM:600101
OMIM
ClinVar
PMID:8035838, PMID:9126484, PMID:10025409, PMID:10369879, PMID:10571947, PMID:10925378, PMID:11450843, PMID:12112653, PMID:15699719, PMID:16596322, PMID:18030493, PMID:18786918, PMID:20301388, PMID:20832469, PMID:20966080, PMID:21242547, PMID:21951272, PMID:22384008, PMID:22420747, PMID:23717403, PMID:23750663, PMID:24033266, PMID:25116015, PMID:25741868, PMID:26036578, PMID:30311386 NCBI chr 5:139,625,783...139,677,300
Ensembl chr 5:139,627,576...139,677,300
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:16077902, PMID:21204020, PMID:23638949, PMID:24033266, PMID:28492532 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
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 ClinVar
OMIM
PMID:49161, PMID:11687797, PMID:12355493, PMID:14872505, PMID:17038455, PMID:17213252, PMID:17393462, PMID:20159265, PMID:22566169, PMID:23421920, PMID:24033266, PMID:24123366, PMID:24135410, PMID:25038238, PMID:25596455, PMID:25741868, PMID:26020059, PMID:26531310, PMID:27994174, PMID:28492532, PMID:28692792, PMID:28847925 NCBI chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
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 OMIM:606705
OMIM
ClinVar
PMID:11850618, PMID:15354000, PMID:16134132, PMID:17250663, PMID:18616530, PMID:19180119, PMID:19187973, PMID:21250555, PMID:22607986, PMID:24033266, PMID:24416283, PMID:24827932, PMID:25388789, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 OMIM
ClinVar
PMID:30245514 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
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
ClinVar Annotator: match by OMIM:601544
OMIM
ClinVar
PMID:1218943, PMID:1511312, PMID:1693158, PMID:2104787, PMID:2706105, PMID:2956987, PMID:6409293, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:9856479, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10501520, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10704187, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:10983956, PMID:11032405, PMID:11073548, PMID:11074495, PMID:11102979, PMID:11134236, PMID:11216656, PMID:11298683, PMID:11313751, PMID:11313763, PMID:11354642, PMID:11386851, PMID:11438992, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11584050, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12064630, PMID:12072059, PMID:12081719, PMID:12111646, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12352684, PMID:12372058, PMID:12384501, PMID:12384781, PMID:12408072, PMID:12417772, PMID:12457154, PMID:12457340, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12522692, PMID:12560944, PMID:12562518, PMID:12666888, PMID:12668604, PMID:12673800, PMID:12684873, PMID:12700168, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12851846, PMID:12865758, PMID:12872268, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14505035, PMID:14520102, PMID:14643477, PMID:14676473, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15150777, PMID:15151513, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15464308, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15504600, PMID:15547422, PMID:15617546, PMID:15617550, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15744158, PMID:15790391, PMID:15832357, PMID:15855033, PMID:15937416, PMID:15954104, PMID:15964725, PMID:15967879, PMID:15996214, PMID:16059934, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16467727, PMID:16532460, PMID:16545002, PMID:16645853, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16931589, PMID:16945493, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17366579, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17462767, PMID:17485979, PMID:17505205, PMID:17553572, PMID:17567887, PMID:17581693, PMID:17660464, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18353197, PMID:18414213, PMID:18472371, PMID:18560174, PMID:18570691, PMID:18607988, PMID:18668259, PMID:18684989, PMID:18688874, PMID:18776652, PMID:18793701, PMID:18804553, PMID:18924167, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19050930, PMID:19072567, PMID:19081147, PMID:19101659, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19230829, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19384972, PMID:19465004, PMID:19567088, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19719946, PMID:19723508, PMID:19775242, PMID:19814620, PMID:19877196, PMID:19887791, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20095872, PMID:20096356, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20233142, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20407643, PMID:20442751, PMID:20497192, PMID:20563649, PMID:20593197, PMID:20607074, PMID:20650534, PMID:20668687, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20854437, PMID:20863150, PMID:20890442, PMID:20937258, PMID:20956747, PMID:21040787, PMID:21056478, PMID:21094084, PMID:21094651, PMID:21112098, PMID:21122151, PMID:21131880, PMID:21162657, PMID:21198395, PMID:21281533, PMID:21287563, PMID:21298213, PMID:21366436, PMID:21392827, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21510145, PMID:21728791, PMID:21776002, PMID:21777984, PMID:21811586, PMID:21815880, PMID:21836520, PMID:21868108, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22103400, PMID:22106692, PMID:22281373, PMID:22384008, PMID:22389666, PMID:22429511, PMID:22450542, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22567861, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22747691, PMID:22785241, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22925408, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22991996, PMID:22995991, PMID:23073770, PMID:23141775, PMID:23266159, PMID:23451214, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23665763, PMID:23668481, PMID:23680645, PMID:23684175, PMID:23695287, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24013081, PMID:24033266, PMID:24039984, PMID:24078562, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24341454, PMID:24346070, PMID:24372583, PMID:24387126, PMID:24529908, PMID:24596593, PMID:24611097, PMID:24612839, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24706568, PMID:24737404, PMID:24774219, PMID:24785414, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25149764, PMID:25162826, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25401782, PMID:25447126, PMID:25493717, PMID:25555641, PMID:25625422, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25808784, PMID:25937001, PMID:25999548, PMID:26004784, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26346709, PMID:26361564, PMID:26381000, PMID:26397989, PMID:26399936, PMID:26409293, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26553399, PMID:26681637, PMID:26749107, PMID:26763877, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:26990548, PMID:27018795, PMID:27045574, PMID:27057829, PMID:27063752, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27247933, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27534436, PMID:27610647, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843123, PMID:27843504, PMID:27884173, PMID:27884957, PMID:28000701, PMID:28008688, PMID:28222800, PMID:28271504, PMID:28489599, PMID:28492532, PMID:28583500, PMID:28651654, PMID:28704896, PMID:28900111, PMID:29062245, PMID:29106882, PMID:29140768, PMID:29148562, PMID:29196752, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30168495, PMID:30245029, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30466042, PMID:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:31370293, PMID:31569309, PMID:31620696, PMID:31992338, PMID:32090102, PMID:115556849, PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b
ClinVar Annotator: match by OMIM:612643
OMIM
ClinVar
PMID:10471490, PMID:16547895, PMID:16950989, PMID:17259707, PMID:20858605, PMID:25262649, PMID:25741868, PMID:28492532, PMID:28501645 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
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: Deafness, autosomal dominant 40 ClinVar
OMIM
PMID:12471561, PMID:24033266, PMID:25741868 NCBI chr 1:189,944,895...189,960,069
Ensembl chr 1:189,944,895...189,960,073
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 OMIM:608224 OMIM
ClinVar
PMID:12161595, PMID:23345450, PMID:24211385 NCBI chr12:52,397,666...52,401,005
Ensembl chr12:52,397,792...52,401,015
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 DNA:duplication:cds:c.1394_1401dupCACGGCAT(human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:17503326, PMID:17503326 RGD:9685138 NCBI chr11:76,742,179...76,804,695
Ensembl chr11:76,747,865...76,804,510
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 Annotator: match by OMIM:607841
ClinVar
OMIM
PMID:12736868, PMID:24033266, PMID:24616153, PMID:25741868 NCBI chr 7:71,000,299...71,019,386
Ensembl chr 7:71,004,417...71,019,372
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 ISS OMIM:600652 MouseDO NCBI chr 1:80,773,819...80,783,898
Ensembl chr 1:80,773,819...80,783,898
JBrowse link
G Myh14 myosin heavy chain 14 ISO OMIM NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
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: Deafness, autosomal dominant 4b
ClinVar Annotator: match by OMIM:614614
OMIM
ClinVar
PMID:7655461, PMID:21368133, PMID:24033266, PMID:25589040, PMID:28492532 NCBI chr 1:80,773,819...80,783,898
Ensembl chr 1:80,773,819...80,783,898
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 OMIM:600994
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9771715, PMID:14559215, PMID:14676472, PMID:17868390, PMID:19911014, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 4:79,934,075...79,999,678
Ensembl chr 4:79,934,887...79,989,572
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 96 ISO ClinVar Annotator: match by OMIM:613074 OMIM
ClinVar
PMID:14757864, PMID:19363479 NCBI chr 4:57,463,366...57,463,471
Ensembl chr 4:57,463,366...57,463,471
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: Deafness, autosomal dominant 51 ClinVar
OMIM
PMID:20602916 NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
JBrowse link
autosomal dominant nonsyndromic deafness 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU class 4 homeobox 3 ISO OMIM NCBI chr18:36,713,869...36,716,461
Ensembl chr18:36,713,869...36,716,461
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pappa1 pappalysin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106, PMID:23936043 NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56
ClinVar Annotator: match by OMIM:615629
OMIM
ClinVar
PMID:21681106, PMID:23936043, PMID:25741868, PMID:26467025, PMID:30311386 NCBI chr 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
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 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
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: DEAFNESS, AUTOSOMAL DOMINANT 38
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6
ClinVar Annotator: match by OMIM:600965
OMIM
ClinVar
PMID:8595423, PMID:9817917, PMID:10521293, PMID:10624825, PMID:10679252, PMID:10760554, PMID:11161832, PMID:11244483, PMID:11317350, PMID:11694551, PMID:11709537, PMID:11709538, PMID:11916957, PMID:11920861, PMID:12073007, PMID:12107816, PMID:12181639, PMID:12490066, PMID:12565131, PMID:12782971, PMID:12955714, PMID:15008830, PMID:15234338, PMID:15277431, PMID:15473915, PMID:15605410, PMID:15852062, PMID:16408729, PMID:16648378, PMID:17492394, PMID:17517145, PMID:17603484, PMID:18414213, PMID:18544103, PMID:18688868, PMID:18806274, PMID:19292454, PMID:20738327, PMID:20875904, PMID:21446023, PMID:21917145, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23595122, PMID:23856252, PMID:23990876, PMID:24033266, PMID:24875298, PMID:24909696, PMID:25133958, PMID:25262649, PMID:25388789, PMID:25497598, PMID:25741868, PMID:25895475, PMID:26467025, PMID:27185633, PMID:27617222, PMID:28432734, PMID:28492532 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diablo diablo, IAP-binding mitochondrial protein ISO ClinVar Annotator: match by OMIM:614152 OMIM
ClinVar
PMID:21722859 NCBI chr12:38,490,230...38,503,344
Ensembl chr12:38,490,230...38,503,330
JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar
PMID:24033266, PMID:24291220, PMID:24387994, PMID:24469796, PMID:24729539, PMID:24729547, PMID:25169651, PMID:25741868, PMID:25769375, PMID:26207815, PMID:26371875, PMID:27281533, PMID:27502353, PMID:27541164, PMID:28292732, PMID:28428906, PMID:28492532, PMID:28663785, PMID:29100083, PMID:30311386 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
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: Deafness, autosomal dominant 66 ClinVar
OMIM
PMID:26197441 NCBI chr20:46,250,418...46,261,994
Ensembl chr20:46,250,363...46,261,994
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 OMIM
ClinVar
PMID:25759012 NCBI chr 3:175,493,650...175,538,965
Ensembl chr 3:175,493,698...175,538,963
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 OMIM
ClinVar
PMID:25816005, PMID:30047143 NCBI chr 1:143,443,300...143,535,579
Ensembl chr 1:143,443,300...143,535,583
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, CONGENITAL, UNILATERAL OR ASYMMETRIC OMIM
ClinVar
PMID:26522471 NCBI chr 7:42,269,784...42,351,054
Ensembl chr 7:42,269,784...42,351,054
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 OMIM
ClinVar
PMID:29754270 NCBI chr13:85,916,753...86,061,534
Ensembl chr13:85,918,252...86,061,176
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
OMIM
PMID:25741868, PMID:26196677 NCBI chr 4:120,825,699...120,840,221
Ensembl chr 4:120,825,699...120,840,111
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 ClinVar
OMIM
PMID:25741868, PMID:27657680 NCBI chr 8:58,932,575...59,077,788
Ensembl chr 8:58,932,580...59,077,690
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
OMIM
PMID:28013291 NCBI chr20:4,593,389...4,609,641
Ensembl chr20:4,593,389...4,609,631
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
OMIM
PMID:25741868, PMID:29309402 NCBI chr 7:49,763,657...50,034,932
Ensembl chr 7:49,763,657...50,034,932
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
OMIM
PMID:29860631 NCBI chr 4:86,359,762...86,925,044
Ensembl chr 4:86,359,820...86,630,543
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:31231791 NCBI chr12:11,537,950...11,627,563
Ensembl chr12:11,537,950...11,627,563
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
OMIM
PMID:25741868, PMID:30872814, PMID:31397523, PMID:31432506 NCBI chr 8:103,557,361...103,659,625
Ensembl chr 8:103,557,364...103,608,913
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: DEAFNESS, AUTOSOMAL DOMINANT 77 OMIM
ClinVar
PMID:31273342 NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO OMIM NCBI chr18:52,917,124...52,985,281
Ensembl chr18:52,917,124...52,985,261
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: Deafness, autosomal dominant 9
ClinVar Annotator: match by OMIM:601369
OMIM
ClinVar
PMID:8817345, PMID:9806553, PMID:9931344, PMID:10400989, PMID:11332404, PMID:12928864, PMID:14512963, PMID:16151338, PMID:16261627, PMID:16481359, PMID:18312449, PMID:19161137, PMID:22534022, PMID:24033266, PMID:24662630, PMID:25230692, PMID:25741868, PMID:25780252, PMID:28492532, PMID:28733840 NCBI chr 6:72,359,702...72,373,710
Ensembl chr 6:72,359,791...72,373,695
JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd36 ankyrin repeat domain 36 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr14:85,814,809...85,931,577 JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISS OMIM:607197 MouseDO NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
JBrowse link
G Cdh23 cadherin-related 23 ISO DNA:missense mutations:multiple RGD PMID:17850630 RGD:8662281 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 9:19,121,676...19,372,673
Ensembl chr 9:19,121,677...19,372,673
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by null ClinVar PMID:10587579 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20602914, PMID:22578326 NCBI chr 2:211,480,120...211,528,096
Ensembl chr 2:211,480,400...211,527,919
JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19732867, PMID:21465660, PMID:25741868, PMID:25792669, PMID:28000701, PMID:28492532 NCBI chr18:73,645,365...73,812,271
Ensembl chr18:73,645,907...73,812,271
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Otof otoferlin ISO DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:27082237, PMID:17967520 RGD:9479154 NCBI chr 6:27,328,343...27,424,864
Ensembl chr 6:27,328,406...27,424,864
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
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 OMIM
ClinVar
PMID:15538632, PMID:29590114 NCBI chr 9:111,232,967...111,249,613
Ensembl chr 9:111,220,858...111,286,185
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
OMIM
PMID:24619944 NCBI chr18:36,308,925...36,334,643
Ensembl chr18:36,308,925...36,322,320
JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 102 ClinVar
OMIM
PMID:24033266, PMID:24741995, PMID:25741868 NCBI chr 4:171,475,155...171,645,620
Ensembl chr 4:171,475,567...171,591,882
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: Deafness, autosomal recessive 103 ClinVar
OMIM
PMID:24033266, PMID:24781754, PMID:25741868, PMID:28492532 NCBI chr 9:19,121,676...19,372,673
Ensembl chr 9:19,121,677...19,372,673
JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripor2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar
OMIM
PMID:24958875 NCBI chr17:42,324,594...42,549,907
Ensembl chr17:42,324,594...42,422,053
JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 ClinVar PMID:28492532 NCBI chr 4:171,475,155...171,645,620
Ensembl chr 4:171,475,567...171,591,882
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 ClinVar
OMIM
PMID:26282398, PMID:28281779 NCBI chr 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
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
OMIM
PMID:26881968 NCBI chr10:104,629,563...104,637,906
Ensembl chr10:104,630,573...104,637,823
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
OMIM
PMID:27162350 NCBI chr 5:118,892,874...119,239,528
Ensembl chr 5:119,097,715...119,241,733
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
OMIM
PMID:25741868, PMID:29107558 NCBI chr 5:24,576,988...24,631,758
Ensembl chr 5:24,576,991...24,631,698
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:25741868, PMID:29449721 NCBI chr 6:72,359,702...72,373,710
Ensembl chr 6:72,359,791...72,373,695
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
OMIM
PMID:28492532, PMID:29961571, PMID:29982980 NCBI chr 8:49,342,067...49,353,080
Ensembl chr 8:49,342,067...49,353,080
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: DEAFNESS, AUTOSOMAL RECESSIVE 112 ClinVar
OMIM
PMID:24312468 NCBI chr 2:30,248,458...30,340,211
Ensembl chr 2:30,250,633...30,340,208
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:29703829 NCBI chr 1:80,773,819...80,783,898
Ensembl chr 1:80,773,819...80,783,898
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: DEAFNESS, AUTOSOMAL RECESSIVE 114 OMIM
ClinVar
PMID:25741868, PMID:30610177 NCBI chr10:47,930,633...47,949,774
Ensembl chr10:47,930,633...47,949,773
JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spns2 sphingolipid transporter 2 ISO OMIM NCBI chr10:59,010,428...59,049,482
Ensembl chr10:59,010,428...59,049,482
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: Deafness, autosomal recessive 12, modifier of OMIM
ClinVar
PMID:15829536, PMID:22047666, PMID:25741868, PMID:27535533, PMID:28492532 NCBI chr 4:145,704,779...145,948,997
Ensembl chr 4:145,703,046...146,016,325
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by OMIM:601386
OMIM
ClinVar
PMID:2289998, PMID:2706105, PMID:11090341, PMID:11138009, PMID:11857743, PMID:12075507, PMID:12522556, PMID:12910270, PMID:15353998, PMID:15537665, PMID:15660226, PMID:15829536, PMID:16679490, PMID:16963483, PMID:17407589, PMID:17850630, PMID:18273900, PMID:18323324, PMID:18348277, PMID:18381613, PMID:18429043, PMID:19375528, PMID:19683999, PMID:19888295, PMID:20146813, PMID:20513143, PMID:20613545, PMID:20844544, PMID:21228398, PMID:21436283, PMID:21569298, PMID:21738395, PMID:21917145, PMID:21940737, PMID:22135276, PMID:22443853, PMID:22607986, PMID:22899989, PMID:22995991, PMID:23591405, PMID:23757202, PMID:23804846, PMID:23967202, PMID:24006325, PMID:24033266, PMID:24164807, PMID:24416283, PMID:24498627, PMID:24618850, PMID:24767429, PMID:24875298, PMID:25262649, PMID:25279224, PMID:25333064, PMID:25356970, PMID:25373420, PMID:25404053, PMID:25468891, PMID:25472526, PMID:25474345, PMID:25587757, PMID:25741868, PMID:25788563, PMID:25963016, PMID:26264712, PMID:26346818, PMID:26467025, PMID:26633542, PMID:26763877, PMID:26969326, PMID:27068579, PMID:27460420, PMID:27583405, PMID:27743452, PMID:27792758, PMID:27884173, PMID:28492532, PMID:28912962, PMID:30029624, PMID:30123251, PMID:30245029, PMID:30311386, PMID:30367262, PMID:30718709 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar PMID:11138009, PMID:12075507, PMID:12522556, PMID:15537665, PMID:15660226, PMID:17850630, PMID:18273900, PMID:18429043, PMID:20146813, PMID:21228398, PMID:21569298, PMID:21940737, PMID:22135276, PMID:22899989, PMID:24033266, PMID:24875298, PMID:25468891, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr20:29,947,427...29,954,869
Ensembl chr20:29,951,637...29,952,023
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 chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 15
ClinVar Annotator: match by OMIM:601869
OMIM
CTD
ClinVar
PMID:9286457, PMID:17690910, PMID:21326233, PMID:21660509, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr 7:11,245,160...11,253,080
Ensembl chr 7:11,245,875...11,250,708
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 3:113,357,361...113,379,498
Ensembl chr 3:113,357,365...113,376,751
JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 3:113,318,559...113,324,459
Ensembl chr 3:113,318,563...113,324,461
JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16
ClinVar Annotator: match by OMIM:603720
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11687802, PMID:18414213, PMID:21078986, PMID:21681106, PMID:22147502, PMID:24033266, PMID:24963352, PMID:25157971, PMID:25741868, PMID:26011646, PMID:26467025, PMID:26746617, PMID:31552524 NCBI chr 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:16963483, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:20301442, PMID:20671281, PMID:21203349, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:24416283, PMID:24875298, PMID:25356976, PMID:25468891, PMID:25525159, PMID:25560255, PMID:25741868, PMID:26969326, PMID:27743452, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30718709 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18A OMIM
ClinVar
PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:21436283, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30718709, PMID:14519688 RGD:8694458 NCBI chr 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otog otogelin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18b
ClinVar Annotator: match by OMIM:614945
OMIM
ClinVar
PMID:10655058, PMID:23122587, PMID:24033266, PMID:25741868, PMID:28050010, PMID:28492532, PMID:29196752, PMID:29907799 NCBI chr 1:102,258,124...102,327,201
Ensembl chr 1:102,258,124...102,327,201
JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar PMID:15994881, PMID:17041943, PMID:18324688, PMID:20236118, PMID:28492532 NCBI chr15:37,543,727...37,663,586
Ensembl chr15:37,543,727...37,663,584
JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,813,115...37,830,932
Ensembl chr15:37,813,115...37,831,031
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3
ClinVar Annotator: match by OMIM:220290
OMIM
ClinVar
PMID:1218943, PMID:1511312, PMID:1693158, PMID:2104787, PMID:2706105, PMID:2956987, PMID:6409293, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:9838096, PMID:9856479, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10353784, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10501520, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10704187, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:10983956, PMID:11032405, PMID:11073548, PMID:11074495, PMID:11102979, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11385713, PMID:11386851, PMID:11438992, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11584050, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:11977173, PMID:12064630, PMID:12072059, PMID:12081719, PMID:12111646, PMID:12112666, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12352684, PMID:12372058, PMID:12384501, PMID:12384781, PMID:12408072, PMID:12417772, PMID:12457154, PMID:12457340, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12522692, PMID:12560944, PMID:12562518, PMID:12666888, PMID:12673800, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12851846, PMID:12865758, PMID:12872268, PMID:12885339, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14505035, PMID:14520102, PMID:14571368, PMID:14643477, PMID:14676473, PMID:14681040, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15146674, PMID:15150777, PMID:15151513, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15464308, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15504600, PMID:15547422, PMID:15547423, PMID:15577772, PMID:15592461, PMID:15603707, PMID:15617546, PMID:15617550, PMID:15633193, PMID:15638823, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15744158, PMID:15790391, PMID:15832357, PMID:15841999, PMID:15855033, PMID:15937416, PMID:15954104, PMID:15964725, PMID:15967879, PMID:15994881, PMID:15996214, PMID:16059934, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16154643, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16467727, PMID:16532460, PMID:16545002, PMID:16645853, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16885744, PMID:16931589, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17077310, PMID:17146393, PMID:17146396, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17366579, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17428836, PMID:17431919, PMID:17444514, PMID:17485979, PMID:17505205, PMID:17553572, PMID:17567887, PMID:17567889, PMID:17581693, PMID:17660464, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18024254, PMID:18196482, PMID:18294064, PMID:18316665, PMID:18324688, PMID:18353197, PMID:18414213, PMID:18472371, PMID:18519481, PMID:18560174, PMID:18570691, PMID:18580690, PMID:18607988, PMID:18649181, PMID:18668259, PMID:18684989, PMID:18688874, PMID:18758381, PMID:18776652, PMID:18804553, PMID:18837651, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:18990456, PMID:19027181, PMID:19043807, PMID:19050930, PMID:19072567, PMID:19081147, PMID:19101659, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19230829, PMID:19235794, PMID:19283857, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19384972, PMID:19390476, PMID:19465004, PMID:19567088, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19719946, PMID:19723508, PMID:19775242, PMID:19814620, PMID:19877196, PMID:19887791, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20059378, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20095872, PMID:20096356, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20233142, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20407643, PMID:20412116, PMID:20441744, PMID:20497192, PMID:20542681, PMID:20553101, PMID:20563649, PMID:20593197, PMID:20607074, PMID:20639189, PMID:20650534, PMID:20668687, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20863150, PMID:20956747, PMID:20981092, PMID:21040787, PMID:21056478, PMID:21094084, PMID:21094651, PMID:21112098, PMID:21122151, PMID:21131880, PMID:21162657, PMID:21198395, PMID:21281533, PMID:21287563, PMID:21292415, PMID:21298213, PMID:21298644, PMID:21366436, PMID:21388256, PMID:21392827, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21557232, PMID:21728791, PMID:21738759, PMID:21776002, PMID:21777984, PMID:21811586, PMID:21815880, PMID:21836520, PMID:21844220, PMID:21910243, PMID:21912263, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22016077, PMID:22031297, PMID:22037723, PMID:22103400, PMID:22106692, PMID:22208444, PMID:22281373, PMID:22384008, PMID:22389666, PMID:22429511, PMID:22450542, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22567861, PMID:22574200, PMID:22592158, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22747691, PMID:22785241, PMID:22787277, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22925408, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22991996, PMID:22995991, PMID:23039283, PMID:23073770, PMID:23120683, PMID:23141775, PMID:23266159, PMID:23418865, PMID:23451214, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23665763, PMID:23668481, PMID:23680645, PMID:23684175, PMID:23695287, PMID:23751281, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24013081, PMID:24033266, PMID:24039984, PMID:24078562, PMID:24123366, PMID:24156272, PMID:24158611, PMID:24224790, PMID:24256046, PMID:24341454, PMID:24346070, PMID:24372583, PMID:24503448, PMID:24507663, PMID:24529908, PMID:24551843, PMID:24596593, PMID:24611097, PMID:24612839, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24706568, PMID:24737404, PMID:24774219, PMID:24785414, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25149764, PMID:25162826, PMID:25188385, PMID:25189242, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25270357, PMID:25288386, PMID:25326637, PMID:25365227, PMID:25388846, PMID:25401782, PMID:25447126, PMID:25493717, PMID:25555641, PMID:25560255, PMID:25587757, PMID:25625422, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25788563, PMID:25808784, PMID:25891447, PMID:25937001, PMID:25999548, PMID:26004784, PMID:26043044, PMID:26046157, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26119842, PMID:26178431, PMID:26186295, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26346709, PMID:26361564, PMID:26381000, PMID:26397989, PMID:26399936, PMID:26409293, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26540915, PMID:26542351, PMID:26553399, PMID:26561413, PMID:26681637, PMID:26749107, PMID:26763877, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:26990548, PMID:27018795, PMID:27045574, PMID:27057829, PMID:27063752, PMID:27067584, PMID:27087580, PMID:27153395, PMID:27169813, PMID:27177978, PMID:27224056, PMID:27247933, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27518711, PMID:27534436, PMID:27610647, PMID:27623246, PMID:27627659, PMID:27761313, PMID:27785406, PMID:27792752, PMID:27843123, PMID:27843504, PMID:27884173, PMID:27884957, PMID:28000701, PMID:28008688, PMID:28222800, PMID:28271504, PMID:28405014, PMID:28428247, PMID:28489599, PMID:28492532, PMID:28583500, PMID:28651654, PMID:28704896, PMID:28900111, PMID:29062245, PMID:29106882, PMID:29148562, PMID:29196752, PMID:29311818, PMID:29362677, PMID:29501291, PMID:29542069, PMID:29605365, PMID:29773520, PMID:29921236, PMID:30094485, PMID:30146550, PMID:30168495, PMID:30245029, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30466042, PMID:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31162818, PMID:31163360, PMID:31195736, PMID:31370293, PMID:31569309, PMID:31620696, PMID:31992338, PMID:32090102, PMID:95239365, PMID:102185257, PMID:115556849, PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3
OMIM
ClinVar
PMID:19050930, PMID:25741868, PMID:28492532 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707, PMID:25333454, PMID:25741868 NCBI chr 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6, UMLS MESH term: Deafness, Digenic, Gjb2-Gjb6
OMIM
ClinVar
PMID:10610709, PMID:11017065, PMID:11807148, PMID:12172394, PMID:12419304, PMID:12788524, PMID:12885339, PMID:14571368, PMID:14708603, PMID:15213106, PMID:15638823, PMID:15769851, PMID:15994881, PMID:16547895, PMID:16950989, PMID:17041943, PMID:17666888, PMID:18324688, PMID:20536673, PMID:23219093, PMID:23863883, PMID:23926005, PMID:23981984, PMID:24033266, PMID:24514865, PMID:24522190, PMID:24685692, PMID:25262649, PMID:25741868, PMID:26551294, PMID:27137747, PMID:27817781, PMID:28492532, PMID:28501645, PMID:29771057 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,790,211...37,807,653
Ensembl chr15:37,790,141...37,807,660
JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,835,580...37,926,715
Ensembl chr15:37,835,580...37,926,715
JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9422505, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10501520, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10980526, PMID:10982180, PMID:10982182, PMID:10983956, PMID:11074495, PMID:11102979, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11385713, PMID:11386851, PMID:11438992, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11807148, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12064630, PMID:12072059, PMID:12081719, PMID:12111646, PMID:12112666, PMID:12121355, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12352684, PMID:12384501, PMID:12384781, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12522692, PMID:12560944, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12885339, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14505035, PMID:14520102, PMID:14571368, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15617550, PMID:15638823, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15855033, PMID:15937416, PMID:15954104, PMID:15964725, PMID:15967879, PMID:15994881, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16467727, PMID:16532460, PMID:16545002, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17505205, PMID:17553572, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18324688, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19050930, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20095872, PMID:20096468, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20497192, PMID:20563649, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21056478, PMID:21094084, PMID:21122151, PMID:21162657, PMID:21465647, PMID:21468573, PMID:21488715, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22747691, PMID:22785241, PMID:22796187, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22991996, PMID:22995991, PMID:23141775, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23967136, PMID:24013081, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24341454, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26096904, PMID:26117665, PMID:26119842, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27045574, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27610647, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28489599, PMID:28492532, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:32090102, PMID:115556849, PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b OMIM
ClinVar
PMID:11807148, PMID:12172394, PMID:12885339, PMID:14571368, PMID:15638823, PMID:15994881, PMID:16547895, PMID:16950989, PMID:17041943, PMID:18324688, PMID:22106692, PMID:25262649, PMID:25741868, PMID:28492532, PMID:28501645 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 2
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
ClinVar Annotator: match by OMIM:600060
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3130723, PMID:7568224, PMID:7870171, PMID:7951250, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171832, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10425080, PMID:10447383, PMID:10930322, PMID:11391666, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15121790, PMID:15221449, PMID:15606003, PMID:15660226, PMID:15823922, PMID:16283880, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:17960123, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19156839, PMID:19299023, PMID:19375528, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20613545, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21602428, PMID:21738395, PMID:21873662, PMID:21901789, PMID:22135276, PMID:22334370, PMID:22681893, PMID:22690115, PMID:22785243, PMID:22898263, PMID:22903915, PMID:23148716, PMID:23208854, PMID:23226338, PMID:23237960, PMID:23451214, PMID:23451239, PMID:23559863, PMID:23591405, PMID:23770805, PMID:23804846, PMID:23882135, PMID:23967202, PMID:24033266, PMID:24105371, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24498627, PMID:24618850, PMID:24831256, PMID:24853665, PMID:24875298, PMID:24997346, PMID:25080338, PMID:25133751, PMID:25262649, PMID:25333064, PMID:25373420, PMID:25404053, PMID:25468891, PMID:25472526, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26011067, PMID:26164827, PMID:26226137, PMID:26309859, PMID:26338283, PMID:26346818, PMID:26445815, PMID:26467025, PMID:26486028, PMID:26561413, PMID:26633542, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27160483, PMID:27208204, PMID:27344577, PMID:27460420, PMID:27573290, PMID:27583663, PMID:27610647, PMID:27729122, PMID:27743452, PMID:27766948, PMID:27911912, PMID:27957503, PMID:28000701, PMID:28008688, PMID:28041643, PMID:28281779, PMID:28439001, PMID:28451532, PMID:28472130, PMID:28492532, PMID:28559085, PMID:28944237, PMID:28968992, PMID:29142287, PMID:29178603, PMID:29196752, PMID:29416772, PMID:29490346, PMID:30245029, PMID:30303587, PMID:30311386, PMID:30390570, PMID:30459346, PMID:30718709, PMID:31479088 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 21
ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21
OMIM
ClinVar
PMID:9150164, PMID:9590290, PMID:9949200, PMID:12746400, PMID:17431902, PMID:17661817, PMID:18022253, PMID:18797289, PMID:20947814, PMID:21520338, PMID:21917145, PMID:22718023, PMID:22980975, PMID:23967202, PMID:24033266, PMID:24586623, PMID:25262649, PMID:25741868, PMID:26467025, PMID:27068579, PMID:27627659, PMID:28000701, PMID:28492532, PMID:29196752, PMID:30311386, PMID:31163360 NCBI chr 8:46,603,728...46,675,658
Ensembl chr 8:46,603,728...46,675,544
JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22
ClinVar Annotator: match by OMIM:607039
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11972037, PMID:19888295, PMID:23173898, PMID:23690975, PMID:24033266, PMID:25373420, PMID:25741868, PMID:26434960, PMID:30740825, PMID:30828794 NCBI chr 1:191,029,861...191,097,524
Ensembl chr 1:191,029,861...191,097,290
JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 23
ClinVar Annotator: match by OMIM:609533
OMIM
ClinVar
PMID:11398101, PMID:11487575, PMID:12711741, PMID:14570705, PMID:15028842, PMID:15660226, PMID:18484607, PMID:18719945, PMID:19107147, PMID:19375528, PMID:19683999, PMID:21436283, PMID:21569298, PMID:22815625, PMID:24033266, PMID:24105371, PMID:24498627, PMID:24705292, PMID:25262649, PMID:25307757, PMID:25404053, PMID:25425308, PMID:25468891, PMID:25525159, PMID:25741868, PMID:27440999, PMID:27460420, PMID:28492532 NCBI chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rdx radixin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 24
ClinVar Annotator: match by OMIM:611022
OMIM
ClinVar
PMID:17226784, PMID:19215054, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27231709, PMID:28492532 NCBI chr 8:56,570,728...56,612,851
Ensembl chr 8:56,585,396...56,610,612
JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 25
ClinVar Annotator: match by OMIM:613285
OMIM
ClinVar
PMID:20137774, PMID:20137778, PMID:24033266, PMID:25741868, PMID:25802247, PMID:26467025, PMID:28492532 NCBI chr14:41,663,688...41,787,331
Ensembl chr14:41,663,688...41,786,084
JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gab1 GRB2-associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 ClinVar
OMIM
PMID:11101839, PMID:25741868, PMID:29408807 NCBI chr19:30,794,290...30,903,819
Ensembl chr19:30,794,571...30,902,008
JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:8643598, PMID:22495306, PMID:23033978, PMID:24038936, PMID:25363760, PMID:25533962, PMID:25741868, PMID:26721934, PMID:27418539, PMID:28928363, PMID:32109419 NCBI chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28
ClinVar Annotator: match by OMIM:609823
OMIM
ClinVar
PMID:16385457, PMID:16385458, PMID:23967202, PMID:24033266, PMID:25741868, PMID:27014650, PMID:28492532 NCBI chr 7:120,173,892...120,237,145
Ensembl chr 7:120,176,530...120,230,420
JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 29
ClinVar Annotator: match by OMIM:614035
OMIM
ClinVar
PMID:11163249, PMID:15880785, PMID:22246673, PMID:23590985, PMID:23991001, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26969326, PMID:27838790, PMID:28492532 NCBI chr11:34,132,581...34,142,813
Ensembl chr11:34,132,581...34,142,753
JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3
ClinVar Annotator: match by term: Deafness, autosomal recessive 3
ClinVar Annotator: match by OMIM:600316
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:7616538, PMID:7704031, PMID:9603736, PMID:10552926, PMID:11735029, PMID:17546645, PMID:17853461, PMID:18804553, PMID:19274735, PMID:20642360, PMID:21917145, PMID:22245518, PMID:22736430, PMID:22903915, PMID:23208854, PMID:23767834, PMID:23804846, PMID:23865914, PMID:23967202, PMID:24033266, PMID:24123792, PMID:24130743, PMID:24206587, PMID:24498627, PMID:24875298, PMID:25262649, PMID:25741868, PMID:25792667, PMID:26226137, PMID:26242193, PMID:26399936, PMID:26445815, PMID:26467025, PMID:26633542, PMID:26969326, PMID:27068579, PMID:27375115, PMID:27436265, PMID:27734841, PMID:27870113, PMID:28000701, PMID:28492532, PMID:29986705, PMID:30311386, PMID:30622556, PMID:30828794, PMID:30953472, PMID:31980526 NCBI chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 30
ClinVar Annotator: match by OMIM:607101
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:12032315, PMID:17344846, PMID:21165622, PMID:23967202, PMID:23990876, PMID:24033266, PMID:24214986, PMID:25741868, PMID:26166082, PMID:26467025, PMID:27068579, PMID:28492532, PMID:32006683 NCBI chr17:88,952,635...89,167,538
Ensembl chr17:88,963,981...89,167,018
JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 31
ClinVar Annotator: match by OMIM:607084
OMIM
ClinVar
PMID:11973626, PMID:12833159, PMID:15841483, PMID:20352026, PMID:21569298, PMID:21654738, PMID:22135276, PMID:23804846, PMID:24033266, PMID:25262649, PMID:25404053, PMID:25468891, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30245029 NCBI chr 5:79,235,541...79,317,206
Ensembl chr 5:79,234,950...79,317,206
JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc14a cell division cycle 14A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 32
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:12634867, PMID:25741868, PMID:27259055, PMID:29293958 NCBI chr 2:219,302,577...219,458,345
Ensembl chr 2:219,302,577...219,458,271
JBrowse link
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 35
ClinVar Annotator: match by OMIM:608565
OMIM
ClinVar
PMID:12529709, PMID:18179891, PMID:22951369, PMID:23767834, PMID:24033266, PMID:25342930, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29636544 NCBI chr 6:110,360,940...110,458,406
Ensembl chr 6:110,410,141...110,455,906
JBrowse link
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement
ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9763424, PMID:15286153, PMID:15930085, PMID:18973245, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29572253 NCBI chr 5:169,293,356...169,331,338
Ensembl chr 5:169,293,904...169,331,163
JBrowse link
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 37
ClinVar Annotator: match by OMIM:607821
OMIM
ClinVar
PMID:11167014, PMID:12687499, PMID:18212818, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532 NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
JBrowse link
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 39
ClinVar Annotator: match by OMIM:608265
DNA:deletions,mutation:intron,exon:
OMIM
ClinVar
PMID:18564920, PMID:19576567, PMID:24033266, PMID:25741868, PMID:28492532, PMID:19576567 RGD:8548545 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxi1 forkhead box I1 ISO OMIM NCBI chr10:19,160,566...19,164,505
Ensembl chr10:19,160,582...19,164,505
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Dilated vestibular aqueduct
ClinVar Annotator: match by term: KCNJ10-Related Disorders
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
OMIM
ClinVar
PMID:19289823, PMID:19426954, PMID:20651251, PMID:20678478, PMID:20807765, PMID:21088294, PMID:23869231, PMID:23918157, PMID:23924083, PMID:24378235, PMID:24860705, PMID:25372295, PMID:25741868, PMID:26467025, PMID:27677466, PMID:27875746, PMID:28492532 NCBI chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated vestibular aqueduct ClinVar PMID:15205219, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26602028, PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Enlarged vestibular aqueduct syndrome
ClinVar Annotator: match by term: Dilated vestibular aqueduct
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DNA:mutations:multiple (human)
DNA:transition:intron:g.IVS7-2A>G (human)
DNA:missense mutations, insertions, snp:multiple (human)
OMIM
ClinVar
PMID:2422447, PMID:8541853, PMID:9070918, PMID:9398842, PMID:9500541, PMID:9604973, PMID:9618166, PMID:9618167, PMID:10190331, PMID:10602116, PMID:10700480, PMID:10718825, PMID:10861298, PMID:10874637, PMID:10878664, PMID:10902795, PMID:11317356, PMID:11375792, PMID:11405873, PMID:11502831, PMID:11748854, PMID:11919333, PMID:11932316, PMID:12112665, PMID:12354788, PMID:12642503, PMID:12676893, PMID:12788906, PMID:12974744, PMID:14508505, PMID:14679580, PMID:14715652, PMID:15099345, PMID:15279074, PMID:15355436, PMID:15531480, PMID:15574297, PMID:15679828, PMID:15689455, PMID:15720248, PMID:15747138, PMID:15811013, PMID:15933521, PMID:16053392, PMID:16283880, PMID:16460646, PMID:16570074, PMID:16711435, PMID:16773579, PMID:16924389, PMID:16950989, PMID:17309986, PMID:17322586, PMID:17357124, PMID:17443271, PMID:17503324, PMID:17718863, PMID:17766716, PMID:17851929, PMID:17876604, PMID:17940114, PMID:18167283, PMID:18274916, PMID:18283249, PMID:18285825, PMID:18310264, PMID:18322141, PMID:18585793, PMID:18641518, PMID:18813951, PMID:19017801, PMID:19040761, PMID:19169484, PMID:19204907, PMID:19287372, PMID:19426954, PMID:19509082, PMID:19565036, PMID:19578036, PMID:19608655, PMID:19615760, PMID:19620588, PMID:19786220, PMID:19787632, PMID:20128824, PMID:20301640, PMID:20553101, PMID:20583162, PMID:20597900, PMID:20621367, PMID:20668687, PMID:20826203, PMID:20842945, PMID:21045265, PMID:21154317, PMID:21366435, PMID:21551164, PMID:21704276, PMID:21811566, PMID:21961810, PMID:22116358, PMID:22116360, PMID:22285650, PMID:22384008, PMID:22717225, PMID:22884721, PMID:22903915, PMID:22975760, PMID:23151025, PMID:23185506, PMID:23208854, PMID:23273637, PMID:23336812, PMID:23385134, PMID:23504402, PMID:23555729, PMID:23638949, PMID:23705809, PMID:23718755, PMID:23770805, PMID:23918157, PMID:23958391, PMID:23965030, PMID:24007330, PMID:24033266, PMID:24051746, PMID:24105851, PMID:24224479, PMID:24338212, PMID:24599119, PMID:24860705, PMID:24875928, PMID:25262649, PMID:25266519, PMID:25290043, PMID:25372295, PMID:25373420, PMID:25394566, PMID:25468468, PMID:25491636, PMID:25741868, PMID:25788563, PMID:25910213, PMID:25991456, PMID:25999548, PMID:26022370, PMID:26100058, PMID:26226137, PMID:26252218, PMID:26346818, PMID:26445815, PMID:26485571, PMID:26683941, PMID:26744121, PMID:26752218, PMID:26763877, PMID:26969326, PMID:27344577, PMID:27541434, PMID:27771369, PMID:28000701, PMID:28273078, PMID:28444304, PMID:28492532, PMID:28576516, PMID:28604962, PMID:28964290, PMID:28984810, PMID:29048421, PMID:29196752, PMID:29293505, PMID:29372807, PMID:29546359, PMID:29739340, PMID:30068397, PMID:30077349, PMID:30139988, PMID:30240412, PMID:30245029, PMID:30311386, PMID:30484383, PMID:30622556, PMID:30693673, PMID:30760291, PMID:31599023, PMID:11317356, PMID:18167283, PMID:21965328, PMID:19509082 RGD:7421508, RGD:7411671, RGD:7411556, RGD:7411543 NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 42
ClinVar Annotator: match by OMIM:609646
OMIM
ClinVar
PMID:15641023, PMID:21255762, PMID:24033266, PMID:25741868 NCBI chr11:67,004,042...67,037,115
Ensembl chr11:67,004,042...67,037,115
JBrowse link
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy1 adenylate cyclase 1 ISO ClinVar Annotator: match by OMIM:610154 OMIM
ClinVar
PMID:15583425, PMID:24482543, PMID:24824130 NCBI chr14:87,311,970...87,429,880
Ensembl chr14:87,312,203...87,421,659
JBrowse link
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib2 calcium and integrin binding family member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 48
ClinVar Annotator: match by OMIM:609439
OMIM
CTD
ClinVar
PMID:23023331, PMID:25741868, PMID:26416264 NCBI chr 8:59,123,078...59,139,946
Ensembl chr 8:59,123,079...59,139,946
JBrowse link
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 49
ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49
ClinVar Annotator: match by OMIM:610153
OMIM
ClinVar
PMID:17186462, PMID:18084694, PMID:23979167, PMID:24033266, PMID:25652404, PMID:25741868, PMID:25885414, PMID:26467025, PMID:28492532 NCBI chr 2:30,612,746...30,634,308
Ensembl chr 2:30,612,106...30,634,243
JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 53
ClinVar Annotator: match by OMIM:609706
OMIM
ClinVar
PMID:16033917, PMID:23967202, PMID:24033266, PMID:25633957, PMID:25741868 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
autosomal recessive nonsyndromic deafness 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57 ClinVar
OMIM
PMID:20440071, PMID:24033266, PMID:25741868, PMID:26416264, PMID:26849169, PMID:28492532, PMID:29048736, PMID:30622556 NCBI chr 1:264,776,393...264,796,206
Ensembl chr 1:264,776,398...264,794,938
JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:610220
OMIM
ClinVar
PMID:16804542, PMID:17301963, PMID:17329413, PMID:17373699, PMID:17718865, PMID:21935370, PMID:23804846, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:63,508,386...63,518,163
Ensembl chr 3:63,510,293...63,518,147
JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr 3:63,489,081...63,507,918
Ensembl chr 3:63,489,074...63,507,926
JBrowse link
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 6
ClinVar Annotator: match by OMIM:600971
OMIM
ClinVar
PMID:8593615, PMID:12145746, PMID:19438934, PMID:24033266, PMID:24875298, PMID:25741868, PMID:28492532 NCBI chr 8:119,142,116...119,157,071
Ensembl chr 8:119,142,434...119,157,071
JBrowse link
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 61 OMIM
ClinVar
PMID:12719379, PMID:16086836, PMID:24033266, PMID:24164807, PMID:25262649, PMID:28492532 NCBI chr 4:9,795,811...9,860,904
Ensembl chr 4:9,821,541...9,860,571
JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:166,981,738...166,985,363
Ensembl chr 1:166,983,175...166,985,054
JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63
ClinVar Annotator: match by OMIM:611451
OMIM
ClinVar
PMID:17211611, PMID:18794526, PMID:18953341, PMID:22908982, PMID:23053991, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:166,985,468...166,989,681
Ensembl chr 1:166,986,013...166,988,062
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr 1:167,044,544...167,091,453
Ensembl chr 1:167,051,209...167,091,453
JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 66
DNA:missense mutation:cds:p.Q424P (human)
ClinVar Annotator: match by OMIM:610212
OMIM
ClinVar
PMID:16244493, PMID:23677054, PMID:23746548, PMID:25601850, PMID:25741868, PMID:26467025, PMID:27469900, PMID:28440294, PMID:28461130, PMID:28461131, PMID:28492532, PMID:25601850 RGD:10412291 NCBI chr17:41,838,201...42,031,265
Ensembl chr17:41,838,201...42,031,265
JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 67
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610265
OMIM
ClinVar
CTD
PMID:16459341, PMID:16752389, PMID:24033266, PMID:25741868, PMID:27148795, PMID:28492532, PMID:30177809 NCBI chr20:5,815,837...5,826,137
Ensembl chr20:5,815,837...5,826,137
JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1pr2 sphingosine-1-phosphate receptor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 68 ClinVar
OMIM
PMID:16703383, PMID:24824130, PMID:26805784 NCBI chr 8:21,984,914...21,995,806
Ensembl chr 8:21,984,914...21,995,806
JBrowse link
autosomal recessive nonsyndromic deafness 7 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 recessive 7
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11
ClinVar Annotator: match by OMIM:600974
OMIM
ClinVar
PMID:11850618, PMID:16134132, PMID:17877751, PMID:18414213, PMID:18616530, PMID:19187973, PMID:20373850, PMID:21250555, PMID:21252500, PMID:21917145, PMID:22607986, PMID:23208854, PMID:24033266, PMID:24416283, PMID:24949729, PMID:25491636, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
JBrowse link
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 70
ClinVar Annotator: match by OMIM:614934
OMIM
ClinVar
PMID:23084290, PMID:25741868 NCBI chr14:113,530,470...113,561,645
Ensembl chr14:113,530,470...113,561,645
JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 74
ClinVar Annotator: match by OMIM:613718
OMIM
ClinVar
PMID:19650862, PMID:21185009, PMID:25741868 NCBI chr 7:62,850,506...62,972,487
Ensembl chr 7:62,850,515...62,972,084
JBrowse link
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 76 OMIM
ClinVar
PMID:23348741 NCBI chr 1:88,772,729...88,777,044
Ensembl chr 1:88,772,904...88,776,999
Ensembl chr 1:88,772,904...88,776,999
JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77
ClinVar Annotator: match by OMIM:613079
OMIM
ClinVar
PMID:16936105, PMID:19732867, PMID:21465660, PMID:22341973, PMID:22975204, PMID:23226338, PMID:23804846, PMID:23897863, PMID:24033266, PMID:25333069, PMID:25741868, PMID:25792669, PMID:25938503, PMID:26346818, PMID:26467025, PMID:26969326, PMID:27068579, PMID:27246798, PMID:27959697, PMID:27984600, PMID:28000701, PMID:28383030, PMID:28492532, PMID:29309402, PMID:29676012, PMID:30311386 NCBI chr18:73,645,365...73,812,271
Ensembl chr18:73,645,907...73,812,271
JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprn taperin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 79
ClinVar Annotator: match by OMIM:613307
OMIM
ClinVar
PMID:20170898, PMID:20170899, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:2,480,232...2,487,710
Ensembl chr 3:2,480,232...2,487,710
JBrowse link
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 8
ClinVar Annotator: match by term: Deafness, autosomal recessive 10
ClinVar Annotator: match by term: Deafness, autosomal recessive 8/10
OMIM
ClinVar
PMID:11137999, PMID:11424922, PMID:11462234, PMID:11907649, PMID:12393794, PMID:12920079, PMID:15447792, PMID:16021470, PMID:16283880, PMID:16524950, PMID:17551081, PMID:17981648, PMID:19170735, PMID:21534946, PMID:21786053, PMID:22382023, PMID:22975204, PMID:23208854, PMID:23958653, PMID:23967202, PMID:24033266, PMID:24416283, PMID:24526180, PMID:24657061, PMID:25262649, PMID:25474651, PMID:25741868, PMID:25770132, PMID:26036852, PMID:26408194, PMID:26467025, PMID:26969326, PMID:28246597, PMID:28263784, PMID:28492532, PMID:28566687, PMID:28695016, PMID:29196752, PMID:30311386 NCBI chr20:9,910,522...9,929,705
Ensembl chr20:9,910,522...9,929,705
JBrowse link
autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 84
ClinVar Annotator: match by OMIM:613391
OMIM
ClinVar
PMID:20346435, PMID:25741868 NCBI chr 7:49,763,657...50,034,932
Ensembl chr 7:49,763,657...50,034,932
JBrowse link
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 84b
ClinVar Annotator: match by OMIM:614944
OMIM
ClinVar
PMID:23122586, PMID:24033266, PMID:25741868 NCBI chr 7:51,768,469...51,935,442
Ensembl chr 7:51,794,173...51,935,142
JBrowse link
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86 ClinVar PMID:22277662, PMID:24033266, PMID:24848745, PMID:25741868, PMID:26371875, PMID:26467025, PMID:27259978, PMID:27281533, PMID:28301460, PMID:28492532, PMID:29358611 NCBI chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86
ClinVar Annotator: match by OMIM:614617
OMIM
ClinVar
PMID:22211675, PMID:22277662, PMID:24033266, PMID:24387994, PMID:24729539, PMID:24729547, PMID:24824130, PMID:24848745, PMID:25741868, PMID:25769375, PMID:26371875, PMID:26467025, PMID:27259978, PMID:27281533, PMID:28292732, PMID:28301460, PMID:28428906, PMID:28492532, PMID:29358611 NCBI chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO ClinVar Annotator: match by OMIM:615429 OMIM
ClinVar
PMID:24039609 NCBI chr 4:100,422,256...100,465,152
Ensembl chr 4:100,422,252...100,465,112
JBrowse link
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 89
ClinVar Annotator: match by term: Deafness autosomal recessive 89
OMIM
ClinVar
PMID:21181198, PMID:23768514, PMID:24033266, PMID:24824130, PMID:25356970, PMID:25741868 NCBI chr19:44,212,205...44,231,209
Ensembl chr19:44,212,206...44,231,157
JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igsf6 immunoglobulin superfamily, member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:190,997,029...191,007,503
Ensembl chr 1:190,997,029...191,007,503
JBrowse link
G Mettl9 methyltransferase like 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:190,962,935...191,009,926
Ensembl chr 1:190,964,885...191,009,926
JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:191,029,861...191,097,524
Ensembl chr 1:191,029,861...191,097,290
JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9
ClinVar Annotator: match by OMIM:601071
DNA:duplication:cds:c.1981dupG (human)
DNA:missense mutation:cds:p.D1767G (mouse)
DNA:missense mutation:cds:p.R1939Q (human)
DNA:snps, deletion:cds:multiple (human)
associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human)
DNA:missense mutation:cds:p.L1011P (human)
DNA:snp:intron:IVS8-2A>G (human)
DNA:nonsense mutation:cds:p.Q829X (human)
DNA:nonsense mutation:cds:p.Y730X (human)
OMIM
ClinVar
PMID:9657592, PMID:10192385, PMID:10878664, PMID:10903124, PMID:12114484, PMID:12127154, PMID:12525542, PMID:14635104, PMID:16097006, PMID:16226319, PMID:16283880, PMID:16371502, PMID:17512949, PMID:18381613, PMID:18804553, PMID:19250381, PMID:19461658, PMID:20146813, PMID:20224275, PMID:20230791, PMID:20301429, PMID:20504331, PMID:21557232, PMID:21935370, PMID:22575033, PMID:22607986, PMID:22906306, PMID:23208854, PMID:24033266, PMID:24053799, PMID:24746455, PMID:24814232, PMID:25262649, PMID:25741868, PMID:25991456, PMID:26186295, PMID:26434960, PMID:26467025, PMID:26763877, PMID:26818607, PMID:26969326, PMID:27018795, PMID:27068579, PMID:27082237, PMID:27177047, PMID:27621663, PMID:27729456, PMID:27766948, PMID:27821677, PMID:28492532, PMID:28766844, PMID:29048421, PMID:29362361, PMID:29752989, PMID:30096381, PMID:30245029, PMID:31095577, PMID:22906306, PMID:22575033, PMID:22575033, PMID:14635104, PMID:20230791, PMID:16097006, PMID:10903124, PMID:12114484, PMID:10192385 RGD:9585724, RGD:9491826, RGD:9491826, RGD:9491386, RGD:9479161, RGD:9479157, RGD:737640, RGD:9479156, RGD:9479153 NCBI chr 6:27,328,343...27,424,864
Ensembl chr 6:27,328,406...27,424,864
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868, PMID:27082237 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinb6a serpin family B member 6A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 91 ClinVar
OMIM
PMID:20451170, PMID:24033266, PMID:25741868 NCBI chr17:32,154,747...32,209,598
Ensembl chr17:32,190,801...32,209,590
JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 93 OMIM
ClinVar
PMID:22981119, PMID:25741868, PMID:26445815, PMID:28492532 NCBI chr 1:219,329,186...219,335,046
Ensembl chr 1:219,329,574...219,335,043
JBrowse link
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 OMIM
ClinVar
PMID:25741868, PMID:25807530 NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700
JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 97 OMIM
ClinVar
PMID:25941349 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 OMIM
ClinVar
PMID:22678063, PMID:27736875 NCBI chr20:11,501,510...11,529,210
Ensembl chr20:11,501,925...11,528,332
JBrowse link
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem132e transmembrane protein 132E ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 99 OMIM
ClinVar
PMID:12673573, PMID:25331638, PMID:31656313 NCBI chr10:69,735,534...69,794,975
Ensembl chr10:69,737,328...69,794,975
JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Lichtenstein-knorr syndrome OMIM
ClinVar
PMID:25205112, PMID:25741868, PMID:30018422 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
autosomal-mitochondrial sensorineural 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 CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation
ClinVar Annotator: match by OMIM:601088
ClinVar
OMIM
PMID:8834052, PMID:8867660, PMID:12072800, PMID:17935251, PMID:25865493 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
Bart-Pumphrey syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Bart-Pumphrey syndrome
ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
ClinVar Annotator: match by OMIM:149200
DNA:mutation:cds:p.N54K(human)
OMIM
ClinVar
PMID:1218943, PMID:1693158, PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:11073548, PMID:11074495, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12072059, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12384501, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12560944, PMID:12562518, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14520102, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15617546, PMID:15617550, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15855033, PMID:15952212, PMID:15954104, PMID:15964725, PMID:15967879, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16950989, PMID:16952406, <