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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:Deafness
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Accession:DOID:9008681 term browser browse the term
Definition:A general term for the complete loss of the ability to hear from both ears.
Synonyms:exact_synonym: Acquired Deafness;   Bilateral Deafness;   Complete Hearing Loss;   Deaf Mutism;   Extreme Hearing Loss;   Prelingual Deafness
 narrow_synonym: DEAFNESS WITH ANATOMICAL INNER EAR ANOMALIES
 xref: EFO:0001063;   MESH:D003638;   NCI:C27644



show annotations for term's descendants           Sort by:
Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043416 NCBI chr 4:128,887,017...128,905,322
Ensembl chr 4:128,885,751...128,905,322
JBrowse link
G Aqp4 aquaporin 4 IMP RGD PMID:11406631 RGD:734598 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039
JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO
IDA
CTD Direct Evidence: therapeutic CTD
RGD
PMID:18607918 PMID:19365690 PMID:21452221 PMID:23150788 RGD:8639313, RGD:8655576 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352
JBrowse link
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr13:100,154,502...100,244,524
Ensembl chr13:100,154,502...100,240,578
JBrowse link
G Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit IMP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15357422 PMID:10929716 RGD:1300292 NCBI chr14:29,761,898...30,213,113
Ensembl chr14:29,761,896...30,213,412
JBrowse link
G Cdc14a CDC14 cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 3:116,066,202...116,222,390
Ensembl chr 3:116,066,202...116,222,394
JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
JBrowse link
G Clcnka chloride channel, voltage-sensitive Ka ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035
JBrowse link
G Cldn14 claudin 14 susceptibility ISO DNA:deletion, missense mutation: :398delT, p.V85D
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11163249 PMID:11163249 RGD:1600866 NCBI chr16:93,715,919...93,809,733
Ensembl chr16:93,715,919...93,809,696
JBrowse link
G Coch cochlin susceptibility ISO deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations RGD PMID:9806553 RGD:1600878 NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554
JBrowse link
G Crym crystallin, mu ISO DNA:missense mutation:cds:p.K314T (human) RGD PMID:12471561 RGD:734836 NCBI chr 7:119,785,603...119,801,212
Ensembl chr 7:119,785,603...119,801,334
JBrowse link
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874
JBrowse link
G Espn espin IAGP
ISO
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15286153 PMID:15930085 PMID:10975527 RGD:734943 NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828
JBrowse link
G Esr2 estrogen receptor 2 (beta) IMP RGD PMID:19293293 RGD:8553051 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033
JBrowse link
G Gjb1 gap junction protein, beta 1 treatment IDA RGD PMID:21813206 RGD:7364894 NCBI chr  X:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235
JBrowse link
G Gjb2 gap junction protein, beta 2 IMP
ISO
ClinVar Annotator: match by term: Deafness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... RGD:7364799 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843210 NCBI chr 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637
JBrowse link
G Gpsm2 G-protein signalling modulator 2 (AGS3-like, C. elegans) ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 3:108,585,954...108,629,637
Ensembl chr 3:108,585,954...108,629,625
JBrowse link
G Grxcr1 glutaredoxin, cysteine rich 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 5:68,189,122...68,323,741
Ensembl chr 5:68,189,178...68,323,741
JBrowse link
G Igf1 insulin-like growth factor 1 IMP RGD PMID:20661454 RGD:8549497 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904
JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr16:36,514,340...36,547,166
Ensembl chr16:36,514,340...36,547,166
JBrowse link
G Jag1 jagged 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IMP RGD PMID:12618319 RGD:8662867 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652
JBrowse link
G Kcnk1 potassium channel, subfamily K, member 1 ISO mRNA:decreased expression:brain, neuron RGD PMID:17884299 RGD:2316516 NCBI chr 8:126,718,692...126,757,424
Ensembl chr 8:126,721,909...126,757,424
JBrowse link
G Kcnk10 potassium channel, subfamily K, member 10 ISO mRNA:decreased expression:inferior colliculus (rat) RGD PMID:17884299 RGD:2316516 NCBI chr12:98,395,691...98,544,472
Ensembl chr12:98,395,696...98,544,569
JBrowse link
G Kcnk3 potassium channel, subfamily K, member 3 ISO mRNA:decreased expression:brain, neuron RGD PMID:17884299 RGD:2316516 NCBI chr 5:30,745,514...30,782,614
Ensembl chr 5:30,745,514...30,782,615
JBrowse link
G Kcnq1 potassium voltage-gated channel, subfamily Q, member 1 ISO DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779
JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626
JBrowse link
G Lrrc51 leucine rich repeat containing 51 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953341 NCBI chr 7:101,562,196...101,583,126
Ensembl chr 7:101,562,191...101,583,102
JBrowse link
G Marveld2 MARVEL (membrane-associating) domain containing 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr13:100,732,465...100,753,479
Ensembl chr13:100,732,465...100,753,479
JBrowse link
G Mitf melanogenesis associated transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310
JBrowse link
G mt-Rnr1 12S rRNA, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:9391883 PMID:12031626 PMID:12037390 PMID:15722487 NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024
JBrowse link
G Myo7a myosin VIIA IAGP
ISO
DNA:mutations:cds:multiple (mouse)
ClinVar Annotator: match by term: Deafness
DNA:nonsense mutation:cds
DNA:deletions:exons
ClinVar
RGD
PMID:22135276 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... RGD:4892285, RGD:1581470, RGD:8694136 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731
JBrowse link
G Otof otoferlin IMP
ISO
ClinVar Annotator: match by term: Deafness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:17967520 PMID:30303587 PMID:17055430 RGD:9491387 NCBI chr 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858
JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771
JBrowse link
G Pcdh15 protocadherin 15 ISO CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat)
CTD
RGD
PMID:10978835 PMID:19151506 RGD:2306012 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569
JBrowse link
G Pjvk pejvakin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness
CTD
ClinVar
PMID:17301963 PMID:17329413 PMID:17718875 PMID:19888295 PMID:21696384 More... NCBI chr 2:76,480,617...76,488,898
Ensembl chr 2:76,478,820...76,488,900
JBrowse link
G Pold1 polymerase (DNA directed), delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 7:44,182,168...44,198,239
Ensembl chr 7:44,182,170...44,198,273
JBrowse link
G Polr2c polymerase (RNA) II (DNA directed) polypeptide C ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 8:95,584,078...95,590,870
Ensembl chr 8:95,584,078...95,600,163
JBrowse link
G Polr2f polymerase (RNA) II (DNA directed) polypeptide F ISO ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chr15:79,025,525...79,035,974
Ensembl chr15:79,025,209...79,035,974
JBrowse link
G Pou3f4 POU domain, class 3, transcription factor 4 ISO RGD PMID:9298820 PMID:7839145 RGD:1599156, RGD:1599155 NCBI chr  X:109,857,985...109,862,714
Ensembl chr  X:109,857,886...109,860,813
JBrowse link
G Pou4f3 POU domain, class 4, transcription factor 3 ISO RGD PMID:9506947 RGD:1599168 NCBI chr18:42,527,662...42,529,158
Ensembl chr18:42,527,604...42,530,314
JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr11:59,995,743...60,090,023
Ensembl chr11:59,995,839...60,090,023
JBrowse link
G Ret ret proto-oncogene ISO mRNA:increased expression:vestibulocochlear VIII nerve cochlear component RGD PMID:16738479 RGD:2324943 NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679
JBrowse link
G Serac1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr17:6,090,846...6,130,064
Ensembl chr17:6,092,471...6,130,016
JBrowse link
G Slc19a2 solute carrier family 19 (thiamine transporter), member 2 ISO RGD PMID:10391221 RGD:1599325 NCBI chr 1:164,076,615...164,092,954
Ensembl chr 1:164,076,615...164,092,954
JBrowse link
G Slc26a4 solute carrier family 26, member 4 ISO
IMP
DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human)
ClinVar Annotator: match by term: Deafness
human gene in mouse model
DNA:missense mutation:cds:p.L445W (human)
DNA:mutations:multiple (human)
ClinVar
RGD
PMID:11317356 PMID:28492532 PMID:29372807 PMID:30303587 PMID:34170635 More... RGD:1599217, RGD:7411670, RGD:7411562, RGD:7411559, RGD:11062194, RGD:1599215 NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968
JBrowse link
G Slc26a5 solute carrier family 26, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12719379 NCBI chr 5:22,013,999...22,070,602
Ensembl chr 5:22,015,653...22,070,602
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
JBrowse link
G Sox10 SRY (sex determining region Y)-box 10 ISO ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chr15:79,039,113...79,048,690
Ensembl chr15:79,039,108...79,049,440
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225
JBrowse link
G Tmc1 transmembrane channel-like gene family 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:11850618 PMID:16199547 PMID:22105175 PMID:28492532 PMID:30303587 More... NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566
JBrowse link
G Tmtc2 transmembrane and tetratricopeptide repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27311106 NCBI chr10:105,023,524...105,410,340
Ensembl chr10:105,023,524...105,410,312
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:78,831,924...78,890,069
Ensembl chr15:78,831,924...78,890,069
JBrowse link
G Ush1g USH1 protein network component sans ISO Usher syndrome, type IG, OMIM:607696
ClinVar Annotator: match by term: Deafness
ClinVar
RGD
PMID:25741868 PMID:30303587 PMID:12588794 RGD:1599547 NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228
JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-Coenzyme A acetyltransferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,161,929...13,179,612
Ensembl chr17:13,161,777...13,179,634
JBrowse link
G Agpat4 1-acylglycerol-3-phosphate O-acyltransferase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,337,372...12,438,536
Ensembl chr17:12,337,591...12,438,532
JBrowse link
G Airn antisense Igf2r RNA ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,960,198...13,078,771
Ensembl chr17:12,960,198...13,079,023
JBrowse link
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574
JBrowse link
G Dynlt1b dynein light chain Tctex-type 1B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:6,697,511...6,703,695
Ensembl chr17:6,697,511...6,703,695
JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:7,005,530...7,050,179
Ensembl chr17:7,005,440...7,050,183
JBrowse link
G Fndc1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:7,957,401...8,046,158
Ensembl chr17:7,957,401...8,046,134
JBrowse link
G Gtf2h5 general transcription factor IIH, polypeptide 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:6,130,103...6,135,763
Ensembl chr17:6,130,061...6,136,792
JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551
JBrowse link
G Map3k4 mitogen-activated protein kinase kinase kinase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,446,508...12,537,683
Ensembl chr17:12,446,508...12,537,683
JBrowse link
G Mas1 MAS1 oncogene ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,056,981...13,087,037
Ensembl chr17:13,059,966...13,087,030
JBrowse link
G Mrpl18 mitochondrial ribosomal protein L18 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,130,232...13,136,674
Ensembl chr17:13,130,236...13,135,232
JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272
JBrowse link
G Pnldc1 poly(A)-specific ribonuclease (PARN)-like domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,107,610...13,129,489
Ensembl chr17:13,107,616...13,129,117
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248
JBrowse link
G Rsph3a radial spoke 3A homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:8,164,446...8,198,388
Ensembl chr17:8,164,446...8,198,656
JBrowse link
G Serac1 serine active site containing 1 ISO
IAGP
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome | ClinVar Annotator: match by term: SERAC1-related neurological disorder
OMIM:614739
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr17:6,090,846...6,130,064
Ensembl chr17:6,092,471...6,130,016
JBrowse link
G Slc22a1 solute carrier family 22 (organic cation transporter), member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,867,761...12,894,725
Ensembl chr17:12,867,756...12,894,716
JBrowse link
G Slc22a2 solute carrier family 22 (organic cation transporter), member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,803,076...12,847,376
Ensembl chr17:12,803,019...12,847,375
JBrowse link
G Slc22a3 solute carrier family 22 (organic cation transporter), member 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,638,859...12,726,591
Ensembl chr17:12,637,847...12,726,591
JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950
JBrowse link
G Sytl3 synaptotagmin-like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:6,925,633...7,005,449
Ensembl chr17:6,926,492...7,005,443
JBrowse link
G Tagap T cell activation Rho GTPase activating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:8,144,832...8,153,729
Ensembl chr17:8,144,832...8,153,729
JBrowse link
G Tcp1 t-complex protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,135,216...13,143,954
Ensembl chr17:13,134,588...13,143,954
JBrowse link
G Tmem181a transmembrane protein 181A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:6,307,001...6,358,589
Ensembl chr17:6,307,135...6,358,589
JBrowse link
G Tulp4 TUB like protein 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:6,156,528...6,290,912
Ensembl chr17:6,156,712...6,301,403
JBrowse link
G Wtap WT1 associating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,185,686...13,211,430
Ensembl chr17:13,185,683...13,213,056
JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872
JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707
JBrowse link
G mt-Rnr1 12S rRNA, mitochondrial ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY
CTD
ClinVar
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr15:85,763,505...85,781,595
Ensembl chr15:85,763,513...85,781,595
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain transcription factor 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision
OMIM
CTD
ClinVar
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:139,357,352...139,376,889
Ensembl chr  X:139,357,362...139,376,889
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
IAGP
ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition
OMIM:609129
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 More... NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671
JBrowse link
Autosomal Dominant Auditory Neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase, class VI, type 11A ISO OMIM NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728
JBrowse link
autosomal dominant auditory neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar
PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 More... NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase, H+ transporting, lysosomal V1 subunit B2 ISO
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
OMIM:124480
OMIM
CTD
ClinVar
MouseDO
PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 NCBI chr 8:69,541,388...69,566,370
Ensembl chr 8:69,541,298...69,566,363
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human)
OMIM
CTD
ClinVar
RGD
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993
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 polypeptide 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr 7:44,255,227...44,320,296
Ensembl chr 7:44,255,227...44,320,267
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 IMP
ISO
IAGP
p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM:148210
DNA:mutation:cds:p.D50N (human)
p.G45E(mouse)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)
ClinVar
CTD
MouseDO
OMIM
RGD
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss ClinVar PMID:25741868 PMID:33111345 NCBI chr 6:64,706,109...64,708,229
Ensembl chr 6:64,706,109...64,708,229
JBrowse link
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574
JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr 5:123,649,393...123,664,825
Ensembl chr 5:123,647,828...123,662,239
JBrowse link
G Greb1l growth regulation by estrogen in breast cancer-like ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940
JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011
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 6:56,046,783...56,629,590
Ensembl chr 6:56,046,789...56,629,472
JBrowse link
G Pls1 plastin 1 (I-isoform) ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment ClinVar PMID:30872814 PMID:31397523 NCBI chr 9:95,634,695...95,727,359
Ensembl chr 9:95,634,695...95,727,364
JBrowse link
G Six1 sine oculis-related homeobox 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661
JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr18:37,976,654...38,068,573
Ensembl chr18:37,976,654...38,068,529
JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar PMID:28492532 NCBI chr18:35,846,139...35,855,460
Ensembl chr18:35,846,139...35,855,409
JBrowse link
G Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar PMID:28492532 NCBI chr18:36,797,113...36,799,377
Ensembl chr18:36,797,113...36,798,970
JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 More... NCBI chr10:22,978,861...23,226,785
Ensembl chr10:22,978,862...23,226,684
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3130723 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 More... NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731
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
IAGP
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12
CTD Direct Evidence: marker/mechanism
OMIM:601543
OMIM
ClinVar
CTD
MouseDO
PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 More... NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225
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 ISO
IAGP
ClinVar Annotator: match by term: Deafness, autosomal dominant 13
CTD Direct Evidence: marker/mechanism
OMIM:601868
OMIM
ClinVar
CTD
MouseDO
PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:21204229 More... NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659
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 domain, class 4, transcription factor 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More... NCBI chr18:42,527,662...42,529,158
Ensembl chr18:42,527,604...42,530,314
JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 NCBI chr 2:121,193,729...121,211,851
Ensembl chr 2:121,194,209...121,217,649
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225
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 polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
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, cytoplasmic 1 ISO ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368
JBrowse link
autosomal dominant nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripor2 RHO family interacting cell polarization regulator 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 21
OMIM
CTD
ClinVar
PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 NCBI chr13:24,685,513...24,917,789
Ensembl chr13:24,685,508...24,917,799
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
IAGP
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22
OMIM:606346
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011
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 sine oculis-related homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 23
OMIM
CTD
ClinVar
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661
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 (sodium-dependent inorganic phosphate cotransporter), member 8 ISO
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 25
OMIM:605583
OMIM
CTD
ClinVar
MouseDO
PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr10:89,409,882...89,457,111
Ensembl chr10:89,409,882...89,457,115
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 IAGP OMIM:605583 MouseDO NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482
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 susceptibility ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 27 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 NCBI chr 5:77,413,273...77,434,279
Ensembl chr 5:77,413,338...77,434,279
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:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 28
CTD
ClinVar
OMIM
RGD
PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1599382 NCBI chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813
JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq4 potassium voltage-gated channel, subfamily Q, member 4 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 More... NCBI chr 4:120,553,331...120,605,809
Ensembl chr 4:120,553,335...120,605,809
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 2b
CTD
OMIM
ClinVar
PMID:9843210 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 More... NCBI chr 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637
JBrowse link
autosomal dominant nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 30 ClinVar PMID:32519820 NCBI chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,316...22,508,264
JBrowse link
autosomal dominant nonsyndromic deafness 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase, class VI, type 11A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728
JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659
JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation OMIM
ClinVar
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782
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 gene family 1 ISO
IAGP
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition
CTD Direct Evidence: marker/mechanism
OMIM:606705
OMIM
ClinVar
CTD
MouseDO
PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 More... NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238
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 susceptibility ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 More... NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr 4:127,234,892...127,247,929
Ensembl chr 4:127,244,879...127,247,874
JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:27480936 PMID:28492532 NCBI chr14:57,512,491...57,635,940
Ensembl chr14:57,512,450...57,635,986
JBrowse link
G Eef1akmt1 EEF1A alpha lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr14:57,787,052...57,809,039
Ensembl chr14:57,787,054...57,809,069
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr14:57,360,760...57,370,764
Ensembl chr14:57,360,760...57,371,068
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr14:57,762,197...57,780,623
Ensembl chr14:57,762,234...57,780,623
JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr14:57,814,978...57,906,951
Ensembl chr14:57,814,978...57,902,887
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 OMIM
ClinVar
PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:119,785,603...119,801,212
Ensembl chr 7:119,785,603...119,801,334
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, ligand-gated ion channel, 2 ISO
IAGP
ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition
CTD Direct Evidence: marker/mechanism
OMIM:608224
OMIM
ClinVar
CTD
MouseDO
PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chr 5:110,487,678...110,491,186
Ensembl chr 5:110,487,678...110,491,078
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 44
DNA:duplication:cds:c.1394_1401dupCACGGCAT(human)
OMIM
CTD
ClinVar
RGD
PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 More... RGD:9685138 NCBI chr16:27,205,815...27,270,968
Ensembl chr16:27,207,619...27,270,968
JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chr10:127,539,306...127,556,809
Ensembl chr10:127,541,039...127,556,809
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 IAGP OMIM:600652 MouseDO NCBI chr 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224
JBrowse link
G Myh14 myosin, heavy polypeptide 14 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition OMIM
ClinVar
PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr 7:44,255,227...44,320,296
Ensembl chr 7:44,255,227...44,320,267
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 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4b OMIM
ClinVar
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chr 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 More... NCBI chr 6:50,167,013...50,240,837
Ensembl chr 6:50,165,868...50,240,842
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 term: Deafness, autosomal dominant 50 OMIM
ClinVar
PMID:14757864 PMID:19363479 NCBI chr 6:30,169,445...30,169,550
Ensembl chr 6:30,169,445...30,169,550
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 PMID:20602916 NCBI chr19:24,071,860...24,202,492
Ensembl chr19:24,071,869...24,202,394
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pappa pregnancy-associated plasma protein A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 4:65,041,993...65,276,776
Ensembl chr 4:65,042,411...65,275,746
JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition OMIM
ClinVar
PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252
JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584
JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More... NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549
JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 64 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:123,646,519...123,649,945
Ensembl chr 5:123,648,523...123,649,945
JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 64 OMIM
ClinVar
PMID:21722859 PMID:25741868 PMID:28492532 NCBI chr 5:123,649,393...123,664,825
Ensembl chr 5:123,647,828...123,662,239
JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr17:24,441,518...24,470,333
Ensembl chr17:24,441,172...24,470,458
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 More... NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
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 antigen ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 OMIM
ClinVar
PMID:25741868 PMID:26197441 NCBI chr10:41,395,496...41,407,038
Ensembl chr10:41,395,410...41,407,044
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 IAGP OMIM:616340 MouseDO NCBI chr 2:179,758,059...179,804,475
Ensembl chr 2:179,761,099...179,804,473
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 scaffolding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 68 OMIM
ClinVar
PMID:25741868 PMID:25816005 PMID:30047143 NCBI chr 7:81,250,229...81,356,673
Ensembl chr 7:81,250,229...81,357,275
JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitl kit ligand ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric OMIM
ClinVar
PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 7
OMIM
CTD
ClinVar
PMID:25741868 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227 NCBI chr 1:167,515,864...167,676,310
Ensembl chr 1:167,516,806...167,676,310
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 OMIM
ClinVar
PMID:25741868 PMID:26196677 PMID:28492532 NCBI chr 6:88,860,456...88,875,762
Ensembl chr 6:88,860,456...88,875,762
JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 71 OMIM
ClinVar
PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 More... NCBI chr 9:54,272,442...54,409,150
Ensembl chr 9:54,272,442...54,408,910
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 OMIM
ClinVar
PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr17:35,133,200...35,149,412
Ensembl chr17:35,133,442...35,149,412
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 OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:29309402 NCBI chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912
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 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29860631 NCBI chr 6:56,046,783...56,629,590
Ensembl chr 6:56,046,789...56,629,472
JBrowse link
autosomal dominant nonsyndromic deafness 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trrap transformation/transcription domain-associated protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 75 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31231791 NCBI chr 5:144,704,547...144,796,588
Ensembl chr 5:144,704,542...144,796,588
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 (I-isoform) ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chr 9:95,634,695...95,727,359
Ensembl chr 9:95,634,695...95,727,364
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, sub-family C member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar
PMID:31273342 NCBI chr16:14,179,317...14,292,743
Ensembl chr16:14,179,422...14,293,601
JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12, member 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 78 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32294086 PMID:32658972 NCBI chr18:58,011,505...58,079,893
Ensembl chr18:58,011,750...58,079,893
JBrowse link
autosomal dominant nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scd3 stearoyl-coenzyme A desaturase 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 79 OMIM
ClinVar
PMID:31972369 NCBI chr19:44,191,727...44,232,455
Ensembl chr19:44,191,708...44,232,455
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 growth regulation by estrogen in breast cancer-like ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29955957 PMID:32585897 NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731
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/CED-12 domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 81 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29713870 NCBI chr 6:72,542,905...72,575,396
Ensembl chr 6:72,542,905...72,575,396
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 OMIM
ClinVar
PMID:15829536 PMID:22047666 PMID:25741868 PMID:26467025 PMID:27535533 More... NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 83 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33268592 NCBI chr13:99,557,972...99,653,110
Ensembl chr13:99,557,954...99,653,048
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase, class VI, type 11A ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar
OMIM
PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 85 OMIM
ClinVar
PMID:25741868 PMID:34059922 NCBI chr 4:137,321,079...137,385,842
Ensembl chr 4:137,321,066...137,385,848
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thoc1 THO complex 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 86 ClinVar
OMIM
PMID:32776944 NCBI chr18:9,958,176...9,995,486
Ensembl chr18:9,957,906...9,995,489
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 87 ClinVar
OMIM
PMID:33358777 NCBI chr 3:94,882,042...94,914,248
Ensembl chr 3:94,882,042...94,914,154
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha10 Eph receptor A10 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 88 OMIM
ClinVar
PMID:25741868 NCBI chr 4:124,775,408...124,811,594
Ensembl chr 4:124,774,692...124,811,593
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 89 ClinVar
OMIM
PMID:25741868 PMID:33111345 NCBI chr 6:64,706,109...64,708,229
Ensembl chr 6:64,706,109...64,708,229
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
IAGP
ClinVar Annotator: match by term: Deafness, autosomal dominant 9
CTD Direct Evidence: marker/mechanism
OMIM:601369
OMIM
ClinVar
CTD
MouseDO
PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 90 OMIM
ClinVar
PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,316...22,508,264
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr13:17,885,309...17,979,960
Ensembl chr13:17,884,900...17,979,682
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549
JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273
JBrowse link
G Anapc15 anaphase promoting complex C subunit 15 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 7:101,530,508...101,551,056
Ensembl chr 7:101,512,922...101,551,056
JBrowse link
G Ankrd48 ankyrin repeat domain 48 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr11:5,519,680...5,639,617
Ensembl chr11:5,519,684...5,639,337
JBrowse link
G Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 IAGP OMIM:607197 MouseDO NCBI chr 6:83,719,999...83,735,837
Ensembl chr 6:83,719,972...83,735,837
JBrowse link
G Bsnd barttin CLCNK type accessory beta subunit ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480
JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr19:4,131,469...4,137,340
Ensembl chr19:4,131,578...4,137,340
JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO DNA:missense mutations:multiple
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
RGD
PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... RGD:8662281 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23023331 PMID:25741868 PMID:30303587 NCBI chr 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502
JBrowse link
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 3:108,561,194...108,586,156
Ensembl chr 3:108,561,229...108,586,156
JBrowse link
G Clcnka chloride channel, voltage-sensitive Ka ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035
JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 NCBI chr16:93,715,919...93,809,733
Ensembl chr16:93,715,919...93,809,696
JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr17:44,445,671...44,591,059
Ensembl chr17:44,445,659...44,591,059
JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:28492532 NCBI chr 6:83,985,344...84,188,042
Ensembl chr 6:83,985,572...84,188,042
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838
JBrowse link
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874
JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828
JBrowse link
G Esrrb estrogen related receptor, beta 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:23967202 PMID:24033266 PMID:30303587 PMID:33524517 NCBI chr12:86,407,891...86,568,402
Ensembl chr12:86,407,891...86,568,402
JBrowse link
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr10:81,171,096...81,179,452
Ensembl chr10:81,171,099...81,179,100
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:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 More... NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637
JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:35802133 PMID:37074134 NCBI chr11:103,567,675...103,590,139
Ensembl chr11:103,567,675...103,588,724
JBrowse link
G Gpr156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:37814107 NCBI chr16:37,736,551...37,827,892
Ensembl chr16:37,736,858...37,827,892
JBrowse link
G Gpsm2 G-protein signalling modulator 2 (AGS3-like, C. elegans) ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chr 3:108,585,954...108,629,637
Ensembl chr 3:108,585,954...108,629,625
JBrowse link
G Grxcr1 glutaredoxin, cysteine rich 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20137778 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr 5:68,189,122...68,323,741
Ensembl chr 5:68,189,178...68,323,741
JBrowse link
G Grxcr2 glutaredoxin, cysteine rich 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr18:42,118,388...42,132,114
Ensembl chr18:42,118,388...42,132,114
JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:15641023 PMID:21255762 PMID:25741868 PMID:30303587 NCBI chr16:36,514,340...36,547,166
Ensembl chr16:36,514,340...36,547,166
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652
JBrowse link
G Lhfpl5 lipoma HMGIC fusion partner-like 5 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 NCBI chr17:28,794,330...28,802,567
Ensembl chr17:28,794,615...28,804,653
JBrowse link
G Loxhd1 lipoxygenase homology domains 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:16199547 PMID:19732867 PMID:21465660 PMID:24033266 PMID:25741868 More... NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626
JBrowse link
G Lrrc51 leucine rich repeat containing 51 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 7:101,562,196...101,583,126
Ensembl chr 7:101,562,191...101,583,102
JBrowse link
G Marveld2 MARVEL (membrane-associating) domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:30303587 NCBI chr13:100,732,465...100,753,479
Ensembl chr13:100,732,465...100,753,479
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chr10:120,617,005...120,735,132
Ensembl chr10:120,617,001...120,735,006
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375
JBrowse link
G Myo15a myosin XVA 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:17546645 PMID:25741868 PMID:27573290 PMID:28492532 PMID:30303587 NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195
JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,316...22,508,264
JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011
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: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731
JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr 7:120,682,647...120,762,316
Ensembl chr 7:120,680,873...120,762,320
JBrowse link
G Otof otoferlin IAGP
ISO
DNA:missense mutation:cds:p.I318N (mouse)
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
RGD
PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:20301429 More... RGD:9479154 NCBI chr 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858
JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr10:107,596,391...107,748,240
Ensembl chr10:107,596,392...107,747,995
JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:28492532 PMID:30303587 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569
JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:28492532 PMID:31253780 NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156
JBrowse link
G Pjvk pejvakin 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:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:24033266 More... NCBI chr 2:76,480,617...76,488,898
Ensembl chr 2:76,478,820...76,488,900
JBrowse link
G Pou4f3 POU domain, class 4, transcription factor 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr18:42,527,662...42,529,158
Ensembl chr18:42,527,604...42,530,314
JBrowse link
G Prkra protein kinase, interferon inducible double stranded RNA dependent activator ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:24033266 PMID:28492532 NCBI chr 2:76,436,385...76,478,614
Ensembl chr 2:76,460,242...76,478,359
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912
JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 NCBI chr 9:51,958,450...52,000,038
Ensembl chr 9:51,958,473...52,011,763
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: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968
JBrowse link
G Slc26a5 solute carrier family 26, member 5 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 5:22,013,999...22,070,602
Ensembl chr 5:22,015,653...22,070,602
JBrowse link
G Tecta tectorin alpha 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:24033266 PMID:25741868 PMID:30303587 NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225
JBrowse link
G Tmc1 transmembrane channel-like gene family 1 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:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 More... NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566
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:28492532 More... NCBI chr 9:110,694,755...110,709,141
Ensembl chr 9:110,694,779...110,709,181
JBrowse link
G Tmprss3 transmembrane protease, serine 3 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:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:24033266 More... NCBI chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951
JBrowse link
G Togaram2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr17:71,980,153...72,036,666
Ensembl chr17:71,980,256...72,036,664
JBrowse link
G Tomt transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:101,549,010...101,555,572
Ensembl chr 7:101,547,577...101,555,566
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 2:25,152,610...25,159,898
Ensembl chr 2:25,152,630...25,159,897
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr15:78,831,924...78,890,069
Ensembl chr15:78,831,924...78,890,069
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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927
JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238
JBrowse link
G Whrn whirlin 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:30303587 NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228
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:25741868 PMID:29590114 NCBI chr 1:97,633,768...97,698,133
Ensembl chr 1:97,633,773...97,698,136
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, cysteine rich 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 101 OMIM
ClinVar
PMID:24619944 PMID:25741868 PMID:28492532 NCBI chr18:42,118,388...42,132,114
Ensembl chr18:42,118,388...42,132,114
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 OMIM
ClinVar
PMID:24033266 PMID:24741995 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874
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 OMIM
ClinVar
PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 NCBI chr17:44,445,671...44,591,059
Ensembl chr17:44,445,659...44,591,059
JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
JBrowse link
G Ripor2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition OMIM
ClinVar
PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr13:24,685,513...24,917,789
Ensembl chr13:24,685,508...24,917,799
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:25741868 PMID:28492532 NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 OMIM
ClinVar
PMID:25741868 PMID:26282398 PMID:28281779 PMID:28492532 PMID:32747562 NCBI chr 7:140,918,824...140,942,933
Ensembl chr 7:140,918,793...140,942,933
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 OMIM
ClinVar
PMID:25741868 PMID:26881968 PMID:28492532 NCBI chr11:115,969,397...115,977,821
Ensembl chr11:115,969,399...115,977,821
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 OMIM
ClinVar
PMID:25741868 PMID:27162350 PMID:28492532 NCBI chr 4:99,952,988...100,302,003
Ensembl chr 4:99,952,988...100,301,962
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 4:11,331,933...11,386,783
Ensembl chr 4:11,331,933...11,386,783
JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 110 OMIM
ClinVar
PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554
JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 More... NCBI chr 9:44,951,595...44,965,341
Ensembl chr 9:44,951,097...44,965,313
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 OMIM
ClinVar
PMID:24312468 PMID:25741868 NCBI chr13:100,154,502...100,244,524
Ensembl chr13:100,154,502...100,240,578
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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 113 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224
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 chr11:61,544,081...61,563,610
Ensembl chr11:61,544,091...61,563,610
JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 115 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr11:72,342,464...72,380,797
Ensembl chr11:72,342,464...72,380,730
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:25741868 PMID:30311386 PMID:31175426 PMID:35802133 PMID:36633841 NCBI chr17:23,901,558...23,903,000
Ensembl chr17:23,901,558...23,903,000
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn2 clarin 2 ISO ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 OMIM
ClinVar
PMID:25741868 PMID:33496845 PMID:38243601 NCBI chr 5:45,611,021...45,621,824
Ensembl chr 5:45,611,093...45,621,491
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:34626583 NCBI chr 2:122,461,112...122,474,933
Ensembl chr 2:122,461,120...122,474,750
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, Ca++ transporting, plasma membrane 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of
OMIM
CTD
ClinVar
PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 More... NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574
JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO
IAGP
ClinVar Annotator: match by term: Deafness, autosomal recessive 12
CTD Direct Evidence: marker/mechanism
OMIM:601386
OMIM
ClinVar
CTD
MouseDO
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:24367894 PMID:25741868 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159
JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338
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 chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:25741868 NCBI chr10:60,182,630...60,266,073
Ensembl chr10:60,182,630...60,208,463
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 120 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Minar2 membrane integral NOTCH2 associated receptor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 OMIM
ClinVar
PMID:35727972 NCBI chr18:59,195,264...59,210,034
Ensembl chr18:59,195,320...59,210,034
JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chr11:58,885,082...59,027,201
Ensembl chr11:58,885,082...59,029,996
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 121 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 121 OMIM
ClinVar
PMID:25741868 PMID:37814107 NCBI chr16:37,736,551...37,827,892
Ensembl chr16:37,736,858...37,827,892
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 122 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc4 transmembrane and tetratricopeptide repeat containing 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 122 OMIM
ClinVar
PMID:37943620 NCBI chr14:123,156,383...123,220,697
Ensembl chr14:123,156,383...123,221,447
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 123 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx4a syntaxin 4A (placental) ISO OMIM NCBI chr 7:127,439,832...127,450,160
Ensembl chr 7:127,423,466...127,448,191
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 124 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1l1 polycystic kidney and hepatic disease 1-like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 ClinVar
OMIM
PMID:38459354 NCBI chr15:44,320,792...44,464,772
Ensembl chr15:44,320,890...44,464,765
JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More... NCBI chr10:81,171,096...81,179,452
Ensembl chr10:81,171,099...81,179,100
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 2:121,222,109...121,245,082
Ensembl chr 2:121,223,112...121,244,273
JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1, ubiquitous ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 2:121,188,257...121,194,218
Ensembl chr 2:121,188,195...121,194,218
JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 2:121,376,010...121,637,580
Ensembl chr 2:121,376,010...121,637,568
JBrowse link
G Pdia3 protein disulfide isomerase associated 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 2:121,244,383...121,269,168
Ensembl chr 2:121,244,256...121,269,168
JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 2:121,141,038...121,186,138
Ensembl chr 2:121,141,042...121,185,877
JBrowse link
G Strc stereocilin ISO
IAGP
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition
CTD Direct Evidence: marker/mechanism
OMIM:603720
OMIM
ClinVar
CTD
MouseDO
PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chr 2:121,193,729...121,211,851
Ensembl chr 2:121,194,209...121,217,649
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:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927
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
IAGP
IMP
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A
OMIM:602092
OMIM
ClinVar
MouseDO
RGD
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:8694458 NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927
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
IAGP
ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition
OMIM:614945
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More... NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858
JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr14:57,512,491...57,635,940
Ensembl chr14:57,512,450...57,635,986
JBrowse link
G Eef1akmt1 EEF1A alpha lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,787,052...57,809,039
Ensembl chr14:57,787,054...57,809,069
JBrowse link
G Ercc8 excision repaiross-complementing rodent repair deficiency, complementation group 8 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:19894250 PMID:29572252 PMID:30820731 PMID:30871974 PMID:31980658 NCBI chr13:108,295,246...108,337,738
Ensembl chr13:108,295,265...108,331,898
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO
IAGP
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
CTD Direct Evidence: marker/mechanism
OMIM:220290
OMIM
ClinVar
CTD
MouseDO
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787