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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


show annotations for term's descendants           Sort by:
 
sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685646 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877
JBrowse link
G Adprs ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 5:138,614,022...138,619,296
Ensembl chr 5:138,614,022...138,619,296
JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:32219868 NCBI chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110
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:28492532 PMID:28967629 PMID:31523922 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:17454231 RGD:7771593 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837
JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459
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:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA,protein:increased expression:inferior colliculus: RGD PMID:20598895 RGD:8655560 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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 6:132,034,380...132,081,296
Ensembl chr 6:132,037,272...132,081,278
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 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
JBrowse link
G Carmil1 capping protein regulator and myosin 1 linker 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr17:40,807,921...41,088,326
Ensembl chr17:40,808,389...41,088,326
JBrowse link
G Cat catalase IEP RGD PMID:15109710 RGD:8547516 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cdc14a cell division cycle 14A ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:22899989 PMID:25963016 PMID:26346818 PMID:26763877 PMID:28492532 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181
JBrowse link
G Clcn3 chloride voltage-gated channel 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr16:29,127,419...29,200,133
Ensembl chr16:29,127,419...29,200,119
JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO Bartter syndrome type 4, OMIM:602522, C80W
ClinVar Annotator: match by term: Sensorineural hearing loss
ClinVar PMID:25741868 PMID:15044642 RGD:1300378 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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 chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16189708 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546
JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural hearing loss
CTD
ClinVar
PMID:16909383 PMID:25741868 NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213
JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465
JBrowse link
G Cox18 cytochrome c oxidase assembly factor COX18 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr14:17,864,581...17,877,483
Ensembl chr14:17,865,857...17,877,480
JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248
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 chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
JBrowse link
G Dpt dermatopontin ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr13:77,122,926...77,151,646
Ensembl chr13:77,123,115...77,151,639
JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
JBrowse link
G Ednrb endothelin receptor type B IAGP DNA:mutation:cds: RGD PMID:21915282 RGD:6480217 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
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 chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587
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 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859
JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO DNA:deletion:introns, exon (human) RGD PMID:15735644 RGD:1598455 NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
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 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
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 chr13:76,513,463...76,583,106
Ensembl chr13:76,513,255...76,582,317
JBrowse link
G Fadd Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187
JBrowse link
G Gab1 GRB2-associated binding protein 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr19:27,131,262...27,239,236
Ensembl chr19:27,131,262...27,239,236
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864
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 5:47,445,280...47,489,929
Ensembl chr 5:47,452,150...47,489,809
JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 RGD PMID:10935639 RGD:1358706 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391
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 chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613
JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220
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 7:8,374,941...8,383,281 JBrowse link
G Gjb2 gap junction protein, beta 2 IEP
ISO
protein:increased expression:cochlea:
ClinVar Annotator: match by term: Progressive sensorineural hearing impairment
ClinVar Annotator: match by term: Sensorineural hearing loss
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... RGD:7349365 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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 More... NCBI chr 5:139,649,227...139,655,083
Ensembl chr 5:139,649,195...139,654,980
JBrowse link
G Gjc3 gap junction protein, gamma 3 ISO RGD PMID:16481432 RGD:1578421 NCBI chr12:16,899,846...16,912,309
Ensembl chr12:16,896,813...16,964,246
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 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154
JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
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 4:79,258,799...79,321,129
Ensembl chr 4:79,257,804...79,320,806
JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747
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 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:9693304 RGD:8662926 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566
JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:21255762 PMID:25741868 PMID:28492532 NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318
JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:snp:cds:c.807C>T (rs1126643) (human) RGD PMID:22948415 RGD:8686432 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481
JBrowse link
G Kars lysyl-tRNA synthetase ISO ClinVar Annotator: match by term: Sensorineural hearing loss
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment
ClinVar PMID:25356970 PMID:25741868 PMID:30252186 PMID:31116475 PMID:33260297 NCBI chr19:39,957,846...39,976,886
Ensembl chr19:39,957,846...39,977,632
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461
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 5:134,275,145...134,326,992
Ensembl chr 5:134,275,934...134,326,932
JBrowse link
G Kl Klotho ISO RGD PMID:21167925 RGD:10403058 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080
JBrowse link
G Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931
JBrowse link
G Lmx1a LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:29971487 NCBI chr13:79,834,614...79,978,253
Ensembl chr13:79,835,019...79,978,253
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708
JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds: RGD PMID:23246423 RGD:8693695 NCBI chr 1:228,016,439...228,024,736 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 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145
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 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836
JBrowse link
G Myh9 myosin, heavy chain 9 disease_progression ISO associated with MYH9-Related Disorders;DNA:mutations:cds: RGD PMID:26226608 RGD:11533922 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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 chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
JBrowse link
G Myo1a myosin IA ISO DFNA48, OMIM:607841 RGD PMID:12736868 RGD:1600218 NCBI chr 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944
JBrowse link
G Myo1f myosin IF ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 7:14,363,340...14,413,911
Ensembl chr 7:14,363,350...14,413,911
JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 PMID:28492532 PMID:32006683 NCBI chr17:84,554,785...84,604,748
Ensembl chr17:84,543,552...84,759,042
JBrowse link
G Myo6 myosin VI ISO DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y RGD PMID:11468689 RGD:1600556 NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
JBrowse link
G Myo7a myosin VIIA ISO DNA:missense mutation:exon:c.5660C>T (p.P1887L) (human)
ClinVar Annotator: match by term: Sensorineural hearing loss
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment
ClinVar PMID:16449806 PMID:24033266 PMID:25741868 PMID:28802369 PMID:24194196 RGD:8694138 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 1:151,300,446...151,412,069
Ensembl chr 1:151,300,467...151,413,521
JBrowse link
G Ngf nerve growth factor ISO protein:decreased expression:serum: RGD PMID:14587217 RGD:8655553 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452
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 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303
JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked ISO DNA:mutations:cds: RGD PMID:15029877 RGD:11556244 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469
JBrowse link
G Phf7 PHD finger protein 7 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr16:6,433,535...6,446,314
Ensembl chr16:6,433,537...6,446,911
JBrowse link
G Plscr4 phospholipid scramblase 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 8:92,987,290...93,026,056
Ensembl chr 8:92,987,381...93,026,049
JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797
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:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218
JBrowse link
G Prkcb protein kinase C, beta ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27329761 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
JBrowse link
G Ptgds prostaglandin D2 synthase IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833
JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 7:42,837,109...43,016,917
Ensembl chr 7:42,837,109...43,016,917
JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 PMID:32827185 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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 NCBI chr20:3,314,984...3,318,037 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*0301(human) RGD PMID:8712634 RGD:7365101 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258
JBrowse link
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287
JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 4:22,316,769...22,505,930
Ensembl chr 4:22,316,779...22,505,930
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 chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440
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 NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733
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 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
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 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289
JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034
JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISS OMIM:304400 MouseDO NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717
JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISS OMIM:304400 MouseDO NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393
JBrowse link
G Sod2 superoxide dismutase 2 IEP protein:increased activity:cochlea: RGD PMID:15109710 RGD:8547516 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:24472721 RGD:11554193 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476
JBrowse link
G Strc stereocilin ISO RGD PMID:11687802 RGD:1599186 NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
JBrowse link
G Tcf19 transcription factor 19 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr20:3,218,756...3,222,861
Ensembl chr20:3,218,693...3,223,271
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 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
JBrowse link
G Tenm1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr  X:121,400,466...122,289,877
Ensembl chr  X:121,403,649...122,290,207
JBrowse link
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
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:11850618 RGD:1599440 NCBI chr 1:218,275,262...218,445,955
Ensembl chr 1:218,276,417...218,445,955
JBrowse link
G Tmie transmembrane inner ear ISO DFNB6, OMIM:600971
ClinVar Annotator: match by term: Sensorineural hearing loss
ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... RGD:1599441 NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO DFNB10, OMIM:605316, DFNB8 OMIM:601072 RGD PMID:11137999 RGD:1599443 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 7:107,338,092...107,368,125
Ensembl chr 7:107,342,527...107,366,049
JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
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 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 PMID:18273898 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
G Usp31 ubiquitin specific peptidase 31 ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 1:176,211,334...176,278,183
Ensembl chr 1:176,215,889...176,278,355
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 chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
JBrowse link
G Whrn whirlin ISO RGD PMID:12833159 RGD:1580603 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
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 More... NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of OMIM
ClinVar
PMID:8817331 PMID:25741868 PMID:28049726 PMID:28492532 NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355
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 More... RGD:11553818 NCBI chr 4:81,255,814...81,258,504
Ensembl chr 4:81,255,883...81,258,504
JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar
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 chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658
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 chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975
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 PMID:28492532 NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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:26467025 More... RGD:12910984 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672
JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:23967202 PMID:24033266 More... NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836
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 4:146,896,332...147,140,665
Ensembl chr 4:146,896,332...147,140,665
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
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 4:85,300,858...85,777,948
Ensembl chr 4:85,300,858...85,863,219
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 8:96,316,703...96,426,592
Ensembl chr 8:96,317,849...96,385,195
JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankhd1 ankyrin repeat and KH domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,161,882...28,260,917 JBrowse link
G Apbb3 amyloid beta precursor protein binding family B member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,273,168...28,280,347
Ensembl chr18:28,270,545...28,280,094
JBrowse link
G Brd8 bromodomain containing 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,181,744...26,230,035
Ensembl chr18:26,181,732...26,229,884
JBrowse link
G Cd14 CD14 molecule ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
JBrowse link
G Cdc23 cell division cycle 23 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,236,891...26,260,611
Ensembl chr18:26,236,890...26,291,163
JBrowse link
G Cdc25c cell division cycle 25C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,335,156...26,356,199
Ensembl chr18:26,335,834...26,356,185
JBrowse link
G Ctnna1 catenin alpha 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,728,246...26,860,911
Ensembl chr18:26,728,485...26,860,910
JBrowse link
G Cxxc5 CXXC finger protein 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,427,591...27,458,579
Ensembl chr18:27,427,230...27,458,673
JBrowse link
G Cystm1 cysteine-rich transmembrane module containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,945,862...28,013,509
Ensembl chr18:27,951,653...28,013,510
JBrowse link
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:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr18:29,669,659...29,769,044
Ensembl chr18:29,669,659...29,769,172
JBrowse link
G Dnajc18 DnaJ heat shock protein family (Hsp40) member C18 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,269,345...27,303,471
Ensembl chr18:27,269,355...27,298,344
JBrowse link
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316
JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,309,711...27,319,106
Ensembl chr18:27,309,718...27,319,032
JBrowse link
G Egr1 early growth response 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,263,089...28,268,033 JBrowse link
G Etf1 eukaryotic translation termination factor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,502,413...26,530,753
Ensembl chr18:26,504,080...26,530,810
JBrowse link
G Fam13b family with sequence similarity 13, member B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,040,285...26,107,112
Ensembl chr18:26,040,285...26,106,587
JBrowse link
G Fam53c family with sequence similarity 53, member C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,364,050...26,378,173
Ensembl chr18:26,364,039...26,376,775
JBrowse link
G Gfra3 GDNF family receptor alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,297,828...26,326,105
Ensembl chr18:26,297,829...26,326,105
JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740
JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747
JBrowse link
G Hbegf heparin-binding EGF-like growth factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,106,284...28,116,167
Ensembl chr18:28,105,760...28,116,441
JBrowse link
G Hnrnpa0 heterogeneous nuclear ribonucleoprotein A0 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292
JBrowse link
G Igip IgA-inducing protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,904,573...27,905,513 JBrowse link
G Ik IK cytokine ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,358,004...28,372,809
Ensembl chr18:28,357,977...28,378,832
JBrowse link
G Kdm3b lysine demethylase 3B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,380,859...26,436,701
Ensembl chr18:26,380,964...26,436,628
JBrowse link
G Kif20a kinesin family member 20A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,230,294...26,238,780
Ensembl chr18:26,230,230...26,238,780
JBrowse link
G Klhl3 kelch-like family member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr17:6,523,089...6,645,971
Ensembl chr17:6,521,912...6,642,154
JBrowse link
G LOC690826 similar to protocadherin beta 16 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Lrrtm2 leucine rich repeat transmembrane neuronal 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,817,816...26,822,864
Ensembl chr18:26,817,816...26,822,864
JBrowse link
G Matr3 matrin 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,154,098...27,193,212
Ensembl chr18:27,163,714...27,193,166
JBrowse link
G Myot myotilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:36,705,244...36,724,849
Ensembl chr18:36,705,314...36,724,841
JBrowse link
G Mzb1 marginal zone B and B1 cell-specific protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,238,999...27,241,060
Ensembl chr18:27,239,001...27,241,094
JBrowse link
G Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,355,774...28,357,863
Ensembl chr18:28,355,774...28,358,076
JBrowse link
G Nme5 NME/NM23 family member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,163,558...26,180,742
Ensembl chr18:26,163,555...26,180,794
JBrowse link
G Nrg2 neuregulin 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,619,635...27,798,505
Ensembl chr18:27,619,661...27,798,505
JBrowse link
G Paip2 poly(A) binding protein interacting protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,199,762...27,218,359
Ensembl chr18:27,199,796...27,214,863
JBrowse link
G Pcdha1 protocadherin alpha 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdha10 protocadherin alpha 10 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdha11 protocadherin alpha 11 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdha12 protocadherin alpha 12 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdha13 protocadherin alpha 13 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdha2 protocadherin alpha 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdha3 protocadherin alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdha4 protocadherin alpha 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,581,040...28,846,214 JBrowse link
G Pcdha5 protocadherin alpha 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdha6 protocadherin alpha 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdha7 protocadherin alpha 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdha8 protocadherin alpha 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdha9 protocadherin alpha 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdhac1 protocadherin alpha subfamily C, 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdhac2 protocadherin alpha subfamily C, 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdhb1 protocadherin beta 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,912,738...28,916,746
Ensembl chr18:28,913,989...28,916,445
JBrowse link
G Pcdhb15 protocadherin beta 15 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdhb16l protocadherin beta-16-like ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,185,405...29,195,669
Ensembl chr18:29,192,124...29,200,539
JBrowse link
G Pcdhb19 protocadherin beta 19 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,203,188...29,207,632 JBrowse link
G Pcdhb2 protocadherin beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,005,996...29,008,782
Ensembl chr18:29,005,996...29,008,782
JBrowse link
G Pcdhb20 protocadherin beta 20 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,211,883...29,215,258
Ensembl chr18:29,211,883...29,215,258
JBrowse link
G Pcdhb21 protocadherin beta 21 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,215,434...29,229,138
Ensembl chr18:29,218,225...29,221,142
JBrowse link
G Pcdhb22 protocadherin beta 22 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 Ensembl chr18:29,223,149...29,225,536 JBrowse link
G Pcdhb3 protocadherin beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,011,667...29,014,221
Ensembl chr18:29,011,816...29,015,188
JBrowse link
G Pcdhb5 protocadherin beta 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,024,315...29,032,183
Ensembl chr18:29,028,382...29,053,259
JBrowse link
G Pcdhb6l protocadherin beta-6-like ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,144,241...29,149,869
Ensembl chr18:29,146,313...29,148,703
JBrowse link
G Pcdhb8 protocadherin beta 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,065,466...29,067,805
Ensembl chr18:29,065,466...29,067,805
JBrowse link
G Pcdhga1 protocadherin gamma subfamily A, 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,487,404...29,667,865
Ensembl chr18:29,487,482...29,492,857
JBrowse link
G Pcdhga10 protocadherin gamma subfamily A, 10 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,574,693...29,667,865 JBrowse link
G Pcdhga11 protocadherin gamma subfamily A, 11 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,583,373...29,667,865 JBrowse link
G Pcdhga2 protocadherin gamma subfamily A, 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,493,954...29,667,865 JBrowse link
G Pcdhga3 protocadherin gamma subfamily A, 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,499,148...29,667,865 JBrowse link
G Pcdhga4 protocadherin gamma subfamily A, 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,508,152...29,543,103 JBrowse link
G Pcdhga5 protocadherin gamma subfamily A, 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,519,705...29,667,865 JBrowse link
G Pcdhga6 protocadherin gamma subfamily A, 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdhga7 protocadherin gamma subfamily A, 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,543,018...29,667,865 JBrowse link
G Pcdhga8 protocadherin gamma subfamily A, 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,553,882...29,667,865 JBrowse link
G Pcdhga9 protocadherin gamma subfamily A, 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,564,614...29,667,865 JBrowse link
G Pcdhgb1 protocadherin gamma subfamily B, 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,501,739...29,508,024 JBrowse link
G Pcdhgb4 protocadherin gamma subfamily B, 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdhgb5 protocadherin gamma subfamily B, 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdhgb6 protocadherin gamma subfamily B, 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Pcdhgb7 protocadherin gamma subfamily B, 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,579,129...29,667,868 JBrowse link
G Pcdhgb8 protocadherin gamma subfamily B, 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,588,327...29,667,865 JBrowse link
G Pcdhgc3 protocadherin gamma subfamily C, 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,633,016...29,667,865 JBrowse link
G Pcdhgc5 protocadherin gamma subfamily C, 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,647,201...29,666,336 JBrowse link
G Pfdn1 prefoldin subunit 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,014,145...28,067,148
Ensembl chr18:28,014,145...28,067,064
JBrowse link
G Pkd2l2 polycystin 2 like 2, transient receptor potential cation channel ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,007,789...26,042,428
Ensembl chr18:26,007,797...26,042,428
JBrowse link
G Prob1 proline-rich basic protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,242,511...27,249,053
Ensembl chr18:27,244,280...27,247,333
JBrowse link
G Psd2 pleckstrin and Sec7 domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,564,912...27,616,674
Ensembl chr18:27,565,587...27,616,672
JBrowse link
G Pura purine rich element binding protein A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532
G Reep2 receptor accessory protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,438,130...26,447,165
Ensembl chr18:26,438,346...26,447,161
JBrowse link
G Sil1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
JBrowse link
G Slc23a1 solute carrier family 23 member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,214,940...27,230,564
Ensembl chr18:27,216,281...27,230,697
JBrowse link
G Slc25a2 solute carrier family 25 member 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,452,943...29,457,906
Ensembl chr18:29,453,582...29,460,383
JBrowse link
G Slc35a4 solute carrier family 35, member A4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,280,483...28,284,610
Ensembl chr18:28,279,750...28,284,725
JBrowse link
G Slc4a9 solute carrier family 4 member 9 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,128,740...28,144,554
Ensembl chr18:28,128,740...28,141,543
JBrowse link
G Spata24 spermatogenesis associated 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,249,047...27,257,129
Ensembl chr18:27,248,609...27,257,124
JBrowse link
G Spock1 sparc/osteonectin, cwcv and kazal like domains proteoglycan 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr17:6,741,504...7,221,685
Ensembl chr17:6,742,273...7,224,935
JBrowse link
G Sra1 steroid receptor RNA activator 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,269,192...28,273,023
Ensembl chr18:28,269,311...28,272,538
JBrowse link
G Sting1 stimulator of interferon response cGAMP interactor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,332,119...27,338,371
Ensembl chr18:27,332,119...27,338,335
JBrowse link
G Taf7 TATA-box binding protein associated factor 7 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:29,459,937...29,462,086
Ensembl chr18:29,452,943...29,462,134
JBrowse link
G Tmco6 transmembrane and coiled-coil domains 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,349,248...28,355,843
Ensembl chr18:28,349,248...28,355,843
JBrowse link
G Ube2d2 ubiquitin-conjugating enzyme E2D 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:27,364,665...27,405,589
Ensembl chr18:27,364,303...27,406,181
JBrowse link
G Wnt8a Wnt family member 8A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:26,137,690...26,143,283
Ensembl chr18:26,137,690...26,143,283
JBrowse link
G Zmat2 zinc finger, matrin type 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1 ClinVar PMID:28492532 NCBI chr18:28,409,606...28,414,241 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:16199547 PMID:17567890 PMID:17568404 More... NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
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:8900236 PMID:9354784 PMID:9382091 PMID:9536098 More... NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8
ClinVar Annotator: match by OMIM:601543
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 PMID:11333869 More... NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13
ClinVar Annotator: match by OMIM:601868
OMIM
ClinVar
PMID:10581026 PMID:15372529 PMID:24033266 PMID:25633957 PMID:25741868 More... NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
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 More... NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797
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 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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:10973259 PMID:11023810 PMID:11590545 PMID:11752022 More... NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
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 More... NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
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: Autosomal dominant nonsyndromic deafness 22
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 More... NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
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 More... NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
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:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISS OMIM:605583 MouseDO NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517
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 chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354
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 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258
JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A
ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 2A
ClinVar Annotator: match by OMIM:600101
OMIM
ClinVar
PMID:8035838 PMID:9126484 PMID:10025409 PMID:10369879 PMID:10571947 More... NCBI chr 5:134,275,145...134,326,992
Ensembl chr 5:134,275,934...134,326,932
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 More... NCBI chr 5:139,649,227...139,655,083
Ensembl chr 5:139,649,195...139,654,980
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 Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation
ClinVar
OMIM
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811
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 More... NCBI chr 1:218,275,262...218,445,955
Ensembl chr 1:218,276,417...218,445,955
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
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37
OMIM
ClinVar
PMID:7695699 PMID:8218237 PMID:10612821 PMID:19344236 PMID:25741868 More... NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853
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 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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 More... NCBI chr15:31,284,562...31,295,010
Ensembl chr15:31,284,419...31,294,582
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 1:174,560,423...174,575,660
Ensembl chr 1:174,560,416...174,575,633
JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2rx2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 41
ClinVar Annotator: match by OMIM:608224
OMIM
ClinVar
PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chr12:46,338,979...46,342,891
Ensembl chr12:46,339,549...46,342,891
JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc50 coiled-coil domain containing 50 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 44
DNA:duplication:cds:c.1394_1401dupCACGGCAT(human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:17503326 PMID:24033266 PMID:25741868 PMID:17503326 RGD:9685138 NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150
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 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944
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 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871
JBrowse link
G Myh14 myosin heavy chain 14 ISO OMIM NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836
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:25741868 More... NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871
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 More... NCBI chr 4:79,258,799...79,321,129
Ensembl chr 4:79,257,804...79,320,806
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 4:58,788,411...58,788,516
Ensembl chr 4:58,788,411...58,788,516
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 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
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 chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797
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 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666
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 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624
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 5:77,253,881...77,277,078
Ensembl chr 5:77,251,373...77,277,421
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 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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 chr12:33,055,784...33,070,400
Ensembl chr12:33,055,263...33,070,387
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:23526554 PMID:23806086 PMID:24033266 PMID:24088043 PMID:24291220 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050
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 chr20:45,024,051...45,035,628
Ensembl chr20:45,023,973...45,035,634
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 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219
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:25741868 PMID:25816005 PMID:30047143 NCBI chr 1:135,558,977...135,659,780
Ensembl chr 1:135,567,414...135,659,772
JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 69 OMIM
ClinVar
PMID:25073507 PMID:26522471 NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214
JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1a LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 7 OMIM
ClinVar
PMID:29754270 NCBI chr13:79,834,614...79,978,253
Ensembl chr13:79,835,019...79,978,253
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 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847
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 Annotator: match by term: Deafness, autosomal dominant 71
ClinVar
OMIM
PMID:25741868 PMID:27657680 PMID:33715530 NCBI chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161
JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a4 solute carrier family 44, member 4 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 72
ClinVar Annotator: match by term: Deafness, autosomal dominant 72
ClinVar
OMIM
PMID:25741868 PMID:28013291 NCBI chr20:3,903,099...3,919,215
Ensembl chr20:3,903,099...3,919,215
JBrowse link
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73
ClinVar Annotator: match by term: Deafness, autosomal dominant 73
ClinVar
OMIM
PMID:25741868 PMID:29309402 NCBI chr 7:42,837,109...43,016,917
Ensembl chr 7:42,837,109...43,016,917
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 4:85,300,858...85,777,948
Ensembl chr 4:85,300,858...85,863,219
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 chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674
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 8:96,316,703...96,426,592
Ensembl chr 8:96,317,849...96,385,195
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 chr10:528,961...655,179
Ensembl chr10:531,812...655,114
JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 78 OMIM
ClinVar
PMID:32294086 PMID:32658972 NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 80 OMIM
ClinVar
PMID:25741868 PMID:29955957 PMID:32585897 NCBI chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 81 ClinVar
OMIM
PMID:29713870 NCBI chr 4:104,614,665...104,653,122
Ensembl chr 4:104,614,676...104,653,053
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 More... NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688
JBrowse link
G Ankrd36 ankyrin repeat domain 36 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr14:80,451,699...80,568,458 JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISS OMIM:607197 MouseDO NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475
JBrowse link
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571
JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:22981119 PMID:25741868 PMID:26445815 PMID:28492532 PMID:30303587 NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469
JBrowse link
G Cdh23 cadherin-related 23 ISO DNA:missense mutations:multiple
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 PMID:15353998 More... RGD:8662281 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:23023331 PMID:30303587 NCBI chr 8:54,930,265...54,947,157 JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148
JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:30303587 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171
JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 9:16,710,980...16,813,427
Ensembl chr 9:16,710,980...16,813,427
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115
JBrowse link
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873
JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256
JBrowse link
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:23967202 PMID:24033266 PMID:30303587 NCBI chr 6:106,007,662...106,163,136
Ensembl chr 6:106,008,095...106,160,791
JBrowse link
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 7:8,374,941...8,383,281 JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 PMID:9139825 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by null ClinVar PMID:10587579 NCBI chr 5:139,649,227...139,655,083
Ensembl chr 5:139,649,195...139,654,980
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 PMID:30303587 NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154
JBrowse link
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20137778 PMID:30303587 NCBI chr14:40,004,169...40,126,571
Ensembl chr14:40,004,169...40,126,571
JBrowse link
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr18:33,984,689...33,998,094
Ensembl chr18:33,984,689...33,998,094
JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:15641023 PMID:21255762 PMID:30303587 NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760
JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:16459341 PMID:30303587 NCBI chr20:6,632,362...6,642,534
Ensembl chr20:6,632,362...6,642,532
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:28492532 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chr18:70,818,276...70,969,983
Ensembl chr18:70,818,276...70,969,983
JBrowse link
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 2:31,742,652...31,764,150 JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19650862 PMID:21185009 PMID:30303587 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496
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 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:23173898 PMID:24033266 PMID:30303587 NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435
JBrowse link
G Otof otoferlin ISO DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:14635104 PMID:19250381 PMID:24033266 PMID:27082237 PMID:30303587 More... RGD:9479154 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045
JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797
JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 7:42,837,109...43,016,917
Ensembl chr 7:42,837,109...43,016,917
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:11850618 PMID:16134132 PMID:17877751 PMID:18414213 PMID:19187973 More... NCBI chr 1:218,275,262...218,445,955
Ensembl chr 1:218,276,417...218,445,955
JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:11137999 PMID:24033266 PMID:30303587 PMID:30311386 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20170899 PMID:30303587 NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474
JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:30303587 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:28492532 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:30303587 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223
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 9:98,315,280...98,394,537
Ensembl chr 9:98,315,252...98,390,814
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 chr18:33,984,689...33,998,094
Ensembl chr18:33,984,689...33,998,094
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 PMID:28492532 NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873
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 9:16,710,980...16,813,427
Ensembl chr 9:16,710,980...16,813,427
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 chr17:40,323,867...40,547,482
Ensembl chr17:40,323,867...40,548,092
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 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106
ClinVar Annotator: match by term: Deafness, autosomal recessive 106
ClinVar
OMIM
PMID:25741868 PMID:26282398 PMID:28281779 NCBI chr 1:196,446,067...196,471,542
Ensembl chr 1:196,446,287...196,471,541
JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 107
ClinVar Annotator: match by term: Deafness, autosomal recessive 107
ClinVar
OMIM
PMID:25741868 PMID:26881968 NCBI chr10:101,312,476...101,320,775
Ensembl chr10:101,312,446...101,320,736
JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ror1 receptor tyrosine kinase-like orphan receptor 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 108
ClinVar Annotator: match by term: Deafness, autosomal recessive 108
ClinVar
OMIM
PMID:25741868 PMID:27162350 NCBI chr 5:114,744,311...115,088,155
Ensembl chr 5:114,744,304...115,088,155
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 5:24,427,611...24,482,157
Ensembl chr 5:24,428,717...24,482,062
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 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 111
OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298
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 Annotator: match by term: Deafness, autosomal recessive 112
ClinVar
OMIM
PMID:24312468 PMID:25741868 NCBI chr 2:31,457,523...31,470,119
Ensembl chr 2:31,378,924...31,470,119
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 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871
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 chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056
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 chr10:57,067,348...57,105,969
Ensembl chr10:57,066,897...57,105,957
JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 116 OMIM
ClinVar
PMID:31175426 NCBI chr10:12,714,137...12,715,568 JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn2 clarin 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 117 OMIM
ClinVar
PMID:33496845 NCBI chr14:65,656,550...65,666,193
Ensembl chr14:65,656,550...65,666,193
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 4:146,896,332...147,140,665
Ensembl chr 4:146,896,332...147,140,665
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:9536098 PMID:11090341 PMID:11138009 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G LOC100361018 rCG22048-like ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487
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 chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498
JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 15
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:601869
OMIM
ClinVar
CTD
PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More... NCBI chr 7:8,374,941...8,383,281 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 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050
JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758
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 More... NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 PMID:11810303 More... NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
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 More... RGD:8694458 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671
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 More... NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415
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 chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997
JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,694,289...31,711,959
Ensembl chr15:31,694,292...31,711,336
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,181,360...31,206,808
Ensembl chr15:31,181,369...31,206,810
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 term: Autosomal recessive deafness type 1A
ClinVar Annotator: match by OMIM:220290
OMIM
ClinVar
PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 PMID:2706105 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
OMIM
ClinVar
PMID:19050930 PMID:25741868 PMID:28492532 NCBI chr 5:139,649,227...139,655,083
Ensembl chr 5:139,649,195...139,654,980
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 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667
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:11896458 PMID:12172394 More... NCBI chr15:31,284,562...31,295,010
Ensembl chr15:31,284,419...31,294,582
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,665,795...31,688,840 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,716,762...31,807,908
Ensembl chr15:31,716,762...31,807,908
JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 PMID:9285800 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
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 More... NCBI chr15:31,284,562...31,295,010
Ensembl chr15:31,284,419...31,294,582
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: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
ClinVar Annotator: match by term: Deafness, autosomal recessive 2
ClinVar Annotator: match by OMIM:600060
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
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:9949200 PMID:11087000 PMID:12746400 PMID:17431902 PMID:17661817 More... NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
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 More... NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435
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 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719
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 More... NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678
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