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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


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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 chr20:99,834,286...99,863,071
Ensembl chr20:99,834,334...99,858,781
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:11406631 RGD:734598 NCBI chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156
JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:18607918 PMID:19365690 PMID:21452221 PMID:23150788 RGD:8639313 RGD:8655576 NCBI chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336
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 chr 4:65,815,105...65,925,928
Ensembl chr 4:65,814,993...65,914,253
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10929716 PMID:15357422 RGD:1300292 NCBI chr22:14,868,459...15,195,002
Ensembl chr22:15,027,565...15,197,101
JBrowse link
G CDC14A cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr20:32,822,748...32,987,739
Ensembl chr20:32,822,746...32,986,718
JBrowse link
G CLDN14 claudin 14 susceptibility ISO DNA:deletion, missense mutation: :398delT, p.V85D
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11163249 RGD:1600866 NCBI chr 2:80,457,907...80,535,855
Ensembl chr 2:80,458,270...80,458,989
JBrowse link
G CRYM crystallin mu ISO DNA:missense mutation:cds:p.K314T (human) RGD PMID:12471561 RGD:734836 NCBI chr 5:19,388,842...19,409,230
Ensembl chr 5:19,388,841...19,409,199
JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr11:15,522,761...15,691,343
Ensembl chr11:15,522,616...15,691,133
JBrowse link
G ESPN espin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10975527 PMID:15286153 PMID:15930085 RGD:734943 NCBI chr20:125,282,283...125,320,436
Ensembl chr20:125,278,313...125,320,365
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:19293293 RGD:8553051 NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486
JBrowse link
G GJB1 gap junction protein beta 1 treatment ISO RGD PMID:21813206 RGD:7364894 NCBI chr  X:61,013,991...61,019,222
Ensembl chr  X:61,017,716...61,018,567
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059
JBrowse link
G GJB3 gap junction protein beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843210 NCBI chr20:98,100,285...98,106,517
Ensembl chr20:98,102,413...98,103,225
JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr20:24,659,470...24,713,714
Ensembl chr20:24,659,957...24,713,677
JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr27:7,300,259...7,436,241
Ensembl chr27:7,300,376...7,435,093
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:20661454 RGD:8549497 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308
JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303
JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:12618319 RGD:8662867 NCBI chr20:3,873,915...3,907,587
Ensembl chr20:3,902,513...3,903,652
JBrowse link
G KCNK1 potassium two pore domain channel subfamily K member 1 ISO mRNA:decreased expression:brain, neuron RGD PMID:17884299 RGD:2316516 NCBI chr25:70,820,089...70,873,654
Ensembl chr25:70,819,706...70,873,961
JBrowse link
G KCNK10 potassium two pore domain channel subfamily K member 10 ISO mRNA:decreased expression:inferior colliculus (rat) RGD PMID:17884299 RGD:2316516 NCBI chr24:65,835,010...65,989,030
Ensembl chr24:65,835,650...65,987,964
JBrowse link
G KCNK3 potassium two pore domain channel subfamily K member 3 ISO mRNA:decreased expression:brain, neuron RGD PMID:17884299 RGD:2316516 NCBI chr14:80,905,168...80,945,972
Ensembl chr14:80,906,608...80,945,806
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr 1:2,261,448...2,661,840
Ensembl chr 1:2,261,845...2,661,863
JBrowse link
G LOC103216037 cadherin-23 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 9:59,475,126...59,893,824 JBrowse link
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647
JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532
JBrowse link
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 4:65,501,979...65,532,345
Ensembl chr 4:65,506,474...65,535,566
JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr22:30,747,747...30,971,951
Ensembl chr22:30,748,440...30,972,168
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:22135276 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625
JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr14:81,080,077...81,187,769
Ensembl chr14:81,080,462...81,186,697
JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:47,323,579...47,428,029
Ensembl chr 1:47,325,745...47,425,607
JBrowse link
G PAX3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr10:108,125,198...108,225,217
Ensembl chr10:108,125,747...108,224,478
JBrowse link
G PCDH15 protocadherin related 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 chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716
JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 More... NCBI chr10:64,004,113...64,013,025
Ensembl chr10:64,005,259...64,014,571
JBrowse link
G POLR2C RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 5:43,394,294...43,403,981
Ensembl chr 5:43,394,498...43,403,490
JBrowse link
G POLR2F RNA polymerase II, I and III subunit 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 chr19:20,654,464...20,668,267
Ensembl chr19:20,654,239...20,669,872
JBrowse link
G POU3F4 POU class 3 homeobox 4 ISO RGD PMID:7839145 PMID:9298820 RGD:1599155 RGD:1599156 NCBI chr  X:72,379,656...72,381,186
Ensembl chr  X:72,379,979...72,381,064
JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO RGD PMID:9506947 RGD:1599168 NCBI chr23:48,915,247...48,920,163
Ensembl chr23:48,917,217...48,918,548
JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:75,943,793...76,154,604
Ensembl chr11:75,943,260...76,154,083
JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr16:16,717,767...16,847,014
Ensembl chr16:16,760,189...16,849,346
JBrowse link
G RET ret proto-oncogene ISO mRNA:increased expression:vestibulocochlear VIII nerve cochlear component RGD PMID:16738479 RGD:2324943 NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712
JBrowse link
G SERAC1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr13:85,711,101...85,770,010
Ensembl chr13:85,710,061...85,769,961
JBrowse link
G SLC19A2 solute carrier family 19 member 2 ISO RGD PMID:10391221 RGD:1599325 NCBI chr25:59,568,801...59,587,398
Ensembl chr25:59,568,893...59,585,094
JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:11317356 PMID:28492532 PMID:29372807 PMID:30303587 PMID:34170635 NCBI chr21:76,578,035...76,631,725
Ensembl chr21:76,578,665...76,633,165
JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12719379 NCBI chr21:72,347,276...72,418,311
Ensembl chr21:72,347,792...72,393,765
JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478
JBrowse link
G SOX10 SRY-box transcription factor 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 chr19:20,673,053...20,685,506 JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:11850618 PMID:16199547 PMID:22105175 PMID:28492532 PMID:30303587 More... NCBI chr12:83,672,786...83,883,985
Ensembl chr12:83,735,988...83,877,251
JBrowse link
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27311106 NCBI chr11:78,130,490...78,569,546
Ensembl chr11:78,296,438...78,569,740
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 chr19:20,447,340...20,476,669 JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:30303587 NCBI chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682
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 chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724
JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr12:25,087,286...25,189,982
Ensembl chr12:25,087,295...25,189,985
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-CoA 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 chr13:87,363,527...87,378,002 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 chr13:88,634,100...88,782,371
Ensembl chr13:88,640,548...88,781,702
JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220
JBrowse link
G DYNLT1 dynein light chain Tctex-type 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 chr13:86,210,462...86,218,002
Ensembl chr13:86,210,465...86,217,956
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 chr13:86,342,954...86,399,827
Ensembl chr13:86,344,051...86,370,622
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 chr13:86,720,558...86,868,978
Ensembl chr13:86,792,712...86,868,321
JBrowse link
G GTF2H5 general transcription factor IIH subunit 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 Ensembl chr13:85,771,630...85,782,646 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 chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116
JBrowse link
G LPA lipoprotein(a) 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 chr13:88,077,041...88,337,256 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 chr13:88,489,835...88,621,504
Ensembl chr13:88,490,200...88,620,992
JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled 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 chr13:87,520,860...87,523,523
Ensembl chr13:87,521,947...87,523,098
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 chr13:87,389,210...87,395,134
Ensembl chr13:87,389,702...87,394,866
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 chr13:88,266,054...88,321,596
Ensembl chr13:88,268,198...88,322,644
JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 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 chr13:87,396,297...87,418,368
Ensembl chr13:87,397,636...87,422,594
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 chr13:88,856,056...90,329,379 JBrowse link
G RSPH3 radial spoke head 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 chr13:86,562,453...86,582,483 JBrowse link
G SERAC1 serine active site containing 1 ISO 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
ClinVar
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr13:85,711,101...85,770,010
Ensembl chr13:85,710,061...85,769,961
JBrowse link
G SLC22A1 solute carrier family 22 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 chr13:87,744,600...87,780,846
Ensembl chr13:87,745,023...87,781,073
JBrowse link
G SLC22A2 solute carrier family 22 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 chr13:87,835,077...87,881,410
Ensembl chr13:87,833,430...87,881,081
JBrowse link
G SLC22A3 solute carrier family 22 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 chr13:87,971,305...88,076,468
Ensembl chr13:87,971,392...88,074,946
JBrowse link
G SOD2 superoxide dismutase 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 chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974
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 chr13:86,242,087...86,342,084
Ensembl chr13:86,242,109...86,341,818
JBrowse link
G TAGAP T cell activation RhoGTPase 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 chr13:86,620,021...86,630,814
Ensembl chr13:86,620,046...86,630,956
JBrowse link
G TCP1 t-complex 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 chr13:87,377,452...87,388,692
Ensembl chr13:87,377,996...87,388,568
JBrowse link
G TMEM181 transmembrane protein 181 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 chr13:86,102,912...86,206,815 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 chr13:85,881,735...86,088,074
Ensembl chr13:85,883,698...86,085,894
JBrowse link
G WTAP WT1 associated 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 chr13:87,328,228...87,357,868 JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRMU tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY OMIM
ClinVar
PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr19:28,816,293...28,838,259
Ensembl chr19:28,816,524...28,837,935
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO 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
ClinVar
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:95,452,481...95,475,933 JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIAPH3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition OMIM
ClinVar
PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 More... NCBI chr 3:37,455,326...37,951,237 JBrowse link
Autosomal Dominant Auditory Neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11A ATPase phospholipid transporting 11A ISO OMIM NCBI chr 3:90,709,348...90,893,610
Ensembl chr 3:90,709,298...90,887,360
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 chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant OMIM
ClinVar
PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 NCBI chr 8:18,264,210...18,289,951
Ensembl chr 8:18,264,329...18,293,444
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSPP dentin sialophosphoprotein ISO ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 OMIM
ClinVar
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... NCBI chr 7:35,993,669...35,999,443 JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr 6:43,270,363...43,372,927
Ensembl chr 6:43,275,715...43,372,190
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO 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 OMIM
ClinVar
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059
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 7:42,098,057...42,104,910
Ensembl chr 7:42,100,996...42,102,060
JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220
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 chr11:117,555,328...117,580,419
Ensembl chr11:117,552,145...117,579,553
JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chr18:58,960,397...59,104,188
Ensembl chr18:58,963,914...59,103,993
JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr13:527,361...620,418
Ensembl chr13:457,495...618,858
JBrowse link
G PDE1C phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chr21:26,094,604...26,712,127
Ensembl chr21:26,501,264...26,598,053
JBrowse link
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment ClinVar PMID:30872814 PMID:31397523 NCBI chr15:47,919,807...48,031,158
Ensembl chr15:47,919,823...48,003,805
JBrowse link
G SIX1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr24:37,840,399...37,855,801
Ensembl chr24:37,840,309...37,845,192
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 OMIM
ClinVar
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr23:44,139,495...44,244,505
Ensembl chr23:44,139,360...44,244,490
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 chr23:42,124,181...42,137,577
Ensembl chr23:42,123,875...42,137,196
JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders OMIM
ClinVar
PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 More... NCBI chr13:39,988,427...40,271,862
Ensembl chr13:40,001,261...40,272,592
JBrowse link
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 11 OMIM
ClinVar
PMID:3130723 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 More... NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625
JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 OMIM
ClinVar
PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 More... NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647
JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13 OMIM
ClinVar
PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:21204229 More... NCBI chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625
JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition OMIM
ClinVar
PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More... NCBI chr23:48,915,247...48,920,163
Ensembl chr23:48,917,217...48,918,548
JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103245735 stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 NCBI chr26:39,376,441...39,397,613
Ensembl chr26:39,378,318...39,401,072
JBrowse link
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration OMIM
ClinVar
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671
JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20 OMIM
ClinVar
PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chr16:73,456,907...73,459,777 JBrowse link
autosomal dominant nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPOR2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 21 OMIM
ClinVar
PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 NCBI chr17:47,197,067...47,441,413
Ensembl chr17:47,308,984...47,451,779
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 OMIM
ClinVar
PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr13:527,361...620,418
Ensembl chr13:457,495...618,858
JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIX1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 23 OMIM
ClinVar
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chr24:37,840,399...37,855,801
Ensembl chr24:37,840,309...37,845,192
JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC17A8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 25 OMIM
ClinVar
PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr11:95,673,205...95,740,037
Ensembl chr11:95,674,195...95,739,040
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO OMIM:605583 MouseDO NCBI chr11:105,020,972...105,072,660 JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REST RE1 silencing transcription factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 27 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 NCBI chr 7:11,749,312...11,776,103
Ensembl chr 7:11,749,168...11,773,340
JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRHL2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 28 OMIM
ClinVar
PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:96,340,459...96,526,366
Ensembl chr 8:96,342,189...96,526,363
JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition OMIM
ClinVar
PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 More... NCBI chr20:92,083,015...92,139,810
Ensembl chr20:92,083,013...92,139,728
JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 2b ClinVar
OMIM
PMID:9843210 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 More... NCBI chr20:98,100,285...98,106,517
Ensembl chr20:98,102,413...98,103,225
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 9:25,635,918...25,902,552 JBrowse link
autosomal dominant nonsyndromic deafness 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11A ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr 3:90,709,348...90,893,610
Ensembl chr 3:90,709,298...90,887,360
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625
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 chr25:84,431,436...84,463,387
Ensembl chr25:84,434,527...84,463,249
JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition OMIM
ClinVar
PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 More... NCBI chr12:83,672,786...83,883,985
Ensembl chr12:83,735,988...83,877,251
JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar NCBI chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 More... NCBI chr20:30,284,471...30,508,660
Ensembl chr20:30,284,447...30,508,658
JBrowse link
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a OMIM
ClinVar
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059
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 chr20:98,125,073...98,126,343
Ensembl chr20:98,125,345...98,126,145
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 chr 3:567,937...704,109
Ensembl chr 3:567,931...688,388
JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr 3:352,063...418,220
Ensembl chr 3:352,114...395,586
JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr 3:820,352...852,003
Ensembl chr 3:846,982...848,286
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059
JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b OMIM
ClinVar
PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr 3:775,410...783,770
Ensembl chr 3:782,251...783,036
JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583
JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr 3:401,525...421,725 JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr 3:242,281...348,298
Ensembl chr 3:301,551...343,468
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 5:19,388,842...19,409,230
Ensembl chr 5:19,388,841...19,409,199
JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2RX2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition OMIM
ClinVar
PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chr11:127,961,004...127,964,529
Ensembl chr11:127,961,079...127,964,113
JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC50 coiled-coil domain containing 50 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 44 OMIM
ClinVar
PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 More... NCBI chr15:85,493,894...85,563,412
Ensembl chr15:85,494,157...85,556,827
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 chr11:52,939,744...52,961,957
Ensembl chr11:52,936,090...52,961,486
JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO OMIM:600652 MouseDO NCBI chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342
JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition OMIM
ClinVar
PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr 6:43,270,363...43,372,927
Ensembl chr 6:43,275,715...43,372,190
JBrowse link
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4b OMIM
ClinVar
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342
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 OMIM
ClinVar
PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 More... NCBI chr21:33,611,068...33,671,497
Ensembl chr21:33,612,013...33,672,461
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 chr12:80,224,497...80,358,495
Ensembl chr12:80,307,380...80,358,584
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAPPA pappalysin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr12:23,182,856...23,427,092
Ensembl chr12:23,184,704...23,427,165
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 chr12:24,457,616...24,556,194
Ensembl chr12:24,457,738...24,556,451
JBrowse link
G TNFSF8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466
JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 OMIM
ClinVar
PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005
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 chr11:117,552,133...117,555,112 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 chr11:117,555,328...117,580,419
Ensembl chr11:117,552,145...117,579,553
JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNF cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr 5:2,302,249...2,336,188
Ensembl chr 5:2,302,341...2,335,270
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 More... NCBI chr 5:2,353,543...2,378,950 JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD164 CD164 molecule ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 OMIM
ClinVar
PMID:25741868 PMID:26197441 NCBI chr13:64,482,079...64,498,540
Ensembl chr13:64,481,790...64,499,135
JBrowse link
autosomal dominant nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OSBPL2 oxysterol binding protein like 2 ISO OMIM:616340 MouseDO NCBI chr 2:1,944,382...2,001,390
Ensembl chr 2:1,945,383...2,001,353
JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOMER2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 68 OMIM
ClinVar
PMID:25741868 PMID:25816005 PMID:30047143 NCBI chr29:2,667,718...2,810,238
Ensembl chr29:2,706,134...2,803,372
JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KITLG KIT ligand ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric OMIM
ClinVar
PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 NCBI chr11:83,856,149...83,943,095
Ensembl chr11:83,856,157...83,943,083
JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1A LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 7 OMIM
ClinVar
PMID:25741868 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227 NCBI chr25:63,533,442...63,688,124
Ensembl chr25:63,640,244...63,686,106
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 chr22:53,419,958...53,452,720
Ensembl chr22:53,420,417...53,444,095
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 chr26:31,750,419...31,922,022
Ensembl chr26:31,750,403...31,922,208
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 chr17:40,142,349...40,158,024
Ensembl chr17:40,142,730...40,157,858
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 chr11:75,943,793...76,154,604
Ensembl chr11:75,943,260...76,154,083
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 chr21:26,094,604...26,712,127
Ensembl chr21:26,501,264...26,598,053
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 chr28:14,154,962...14,289,110
Ensembl chr28:14,154,960...14,286,512
JBrowse link
autosomal dominant nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chr15:47,919,807...48,031,158
Ensembl chr15:47,919,823...48,003,805
JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar
PMID:31273342 NCBI chr 5:14,972,589...15,164,594
Ensembl chr 5:14,972,646...15,164,567
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 chr23:31,028,514...31,132,263
Ensembl chr23:31,029,026...31,132,289
JBrowse link
autosomal dominant nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCD5 stearoyl-CoA desaturase 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 79 OMIM
ClinVar
PMID:31972369 NCBI chr 7:31,021,144...31,186,564
Ensembl chr 7:31,019,361...31,186,584
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29955957 PMID:32585897 NCBI chr18:58,960,397...59,104,188
Ensembl chr18:58,963,914...59,103,993
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 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELMOD3 ELMO domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 81 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29713870 NCBI chr14:21,765,160...21,803,774 JBrowse link
Autosomal Dominant Nonsyndromic Deafness 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: 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 chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220
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 chr 4:66,445,687...66,548,595
Ensembl chr 4:66,445,901...66,549,142
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP11A ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar
OMIM
PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr 3:90,709,348...90,893,610
Ensembl chr 3:90,709,298...90,887,360
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 chr20:110,854,966...110,958,140
Ensembl chr20:110,854,758...110,960,529
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 chr18:59,624,623...59,676,133
Ensembl chr18:59,624,729...59,676,117
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 chr20:12,358,758...12,395,372
Ensembl chr20:12,358,762...12,394,661
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 chr20:95,094,971...95,145,264
Ensembl chr20:95,098,283...95,142,863
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 7:42,098,057...42,104,910
Ensembl chr 7:42,100,996...42,102,060
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 9:25,635,918...25,902,552 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 chr21:18,551,273...18,688,889
Ensembl chr21:18,553,446...18,688,525
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 OMIM
ClinVar
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005
JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 NCBI chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504
JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO OMIM:607197 MouseDO NCBI chr14:36,149,074...36,179,145
Ensembl chr14:36,149,006...36,177,671
JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr20:77,943,853...77,960,883
Ensembl chr20:77,940,881...77,955,094
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 chr 1:6,741,202...6,744,931 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 chr26:5,222,657...5,248,133
Ensembl chr26:5,222,902...5,248,191
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 chr 2:80,457,907...80,535,855
Ensembl chr 2:80,458,270...80,458,989
JBrowse link
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr17:26,231,192...26,364,076
Ensembl chr17:26,231,728...26,343,346
JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063
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 chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731
JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr11:15,522,761...15,691,343
Ensembl chr11:15,522,616...15,691,133
JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr20:125,282,283...125,320,436
Ensembl chr20:125,278,313...125,320,365
JBrowse link
G ESRRB estrogen related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 NCBI chr24:53,630,998...53,762,098 JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059
JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr20:98,100,285...98,106,517
Ensembl chr20:98,102,413...98,103,225
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 chr16:60,630,505...60,664,596
Ensembl chr16:60,630,509...60,646,133
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 chr22:60,520,726...60,654,971
Ensembl chr22:60,565,094...60,653,271
JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chr20:24,659,470...24,713,714
Ensembl chr20:24,659,957...24,713,677
JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20137778 PMID:30303587 NCBI chr27:7,300,259...7,436,241
Ensembl chr27:7,300,376...7,435,093
JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr23:48,443,668...48,457,079
Ensembl chr23:48,443,748...48,456,614
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 chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303
JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 NCBI chr17:36,295,612...36,313,964
Ensembl chr17:36,298,479...36,313,490
JBrowse link
G LOC103216037 cadherin-23 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G LOC103233686 PDZ domain-containing protein GIPC3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 6:3,345,218...3,349,422
Ensembl chr 6:3,345,595...3,349,176
JBrowse link
G LOC103243271 leucine-rich repeat-containing protein 37A3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:35802133 PMID:37074134 NCBI chr16:59,592,891...59,634,813 JBrowse link
G LOC103248666 tubulin-specific chaperone cofactor E-like protein 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:30303587 NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647
JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532
JBrowse link
G MARVELD2 MARVEL 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:30303587 NCBI chr 4:65,501,979...65,532,345
Ensembl chr 4:65,506,474...65,535,566
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 chr11:60,970,103...61,157,950
Ensembl chr11:60,969,985...61,154,356
JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671
JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:17546645 PMID:25741868 PMID:27573290 PMID:28492532 PMID:30303587 NCBI chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009
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 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625
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 5:20,184,525...20,278,438
Ensembl chr 5:20,198,412...20,278,433
JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:20301429 More... NCBI chr14:81,080,077...81,187,769
Ensembl chr14:81,080,462...81,186,697
JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 1:47,323,579...47,428,029
Ensembl chr 1:47,325,745...47,425,607
JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716
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 chr 9:94,026,036...94,049,043 JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 More... NCBI chr10:64,004,113...64,013,025
Ensembl chr10:64,005,259...64,014,571
JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr23:48,915,247...48,920,163
Ensembl chr23:48,917,217...48,918,548
JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr11:75,943,793...76,154,604
Ensembl chr11:75,943,260...76,154,083
JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788
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 chr21:76,578,035...76,631,725
Ensembl chr21:76,578,665...76,633,165
JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: 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 chr12:83,672,786...83,883,985
Ensembl chr12:83,735,988...83,877,251
JBrowse link
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chr22:8,114,995...8,133,827 JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: 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 chr 2:86,248,792...86,273,715
Ensembl chr 2:86,245,507...86,272,196
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 chr14:78,551,667...78,623,546
Ensembl chr14:78,551,807...78,609,848
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 chr12:988,225...997,914 JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr19:20,447,340...20,476,669 JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834
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 chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682
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 chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724
JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr12:25,087,286...25,189,982
Ensembl chr12:25,087,295...25,189,985
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 chr23:6,562,435...6,639,330
Ensembl chr23:6,571,657...6,641,002
JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 101 OMIM
ClinVar
PMID:24619944 PMID:25741868 PMID:28492532 NCBI chr23:48,443,668...48,457,079
Ensembl chr23:48,443,748...48,456,614
JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 102 OMIM
ClinVar
PMID:24033266 PMID:24741995 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr11:15,522,761...15,691,343
Ensembl chr11:15,522,616...15,691,133
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 chr17:26,231,192...26,364,076
Ensembl chr17:26,231,728...26,343,346
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 chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059
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 chr17:47,197,067...47,441,413
Ensembl chr17:47,308,984...47,451,779
JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:15,522,761...15,691,343
Ensembl chr11:15,522,616...15,691,133
JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 OMIM
ClinVar
PMID:25741868 PMID:26282398 PMID:28281779 PMID:28492532 PMID:32747562 NCBI chr 1:523,811...540,781
Ensembl chr 1:523,524...540,803
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 chr16:45,821,875...45,836,558
Ensembl chr16:45,821,967...45,835,530
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 chr20:68,910,736...69,318,775
Ensembl chr20:68,910,751...68,954,618
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 OMIM
ClinVar
PMID:25741868 PMID:29107558 NCBI chr 8:89,609,723...89,679,035
Ensembl chr 8:89,608,014...89,679,037
JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111 ClinVar PMID:28492532 NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006
JBrowse link
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 1:109,635,053...109,645,142
Ensembl chr 1:109,633,493...109,645,145
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 chr 4:65,815,105...65,925,928
Ensembl chr 4:65,814,993...65,914,253
JBrowse link
autosomal recessive nonsyndromic deafness 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 113 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342
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 chr16:17,721,294...17,747,366
Ensembl chr16:17,720,269...17,747,319
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 chr16:3,978,262...4,019,950
Ensembl chr16:3,978,845...4,022,678
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 chr 5:2,755,023...2,757,879
Ensembl chr 5:2,756,747...2,757,400
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 chr27:32,681,525...32,695,858
Ensembl chr27:32,682,435...32,694,564
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 chr26:37,793,373...37,812,921
Ensembl chr26:37,793,379...37,811,582
JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of OMIM
ClinVar
PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 More... NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220
JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063
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 chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059
JBrowse link
G LOC103216037 cadherin-23 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of
OMIM
ClinVar
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr 9:59,475,126...59,893,824 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 chr 9:59,440,327...59,474,773
Ensembl chr 9:59,440,311...59,474,986
JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:25741868 NCBI chr 9:59,516,012...59,538,628
Ensembl chr 9:59,516,073...59,542,242
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 chr23:32,655,661...32,672,945
Ensembl chr23:32,655,735...32,674,117
JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chr25:1,356,567...1,520,517
Ensembl chr25:1,366,179...1,514,668
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 chr22:60,520,726...60,654,971
Ensembl chr22:60,565,094...60,653,271
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 122 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 122 OMIM
ClinVar
PMID:37943620 NCBI chr 3:79,228,673...79,299,249
Ensembl chr 3:79,228,571...79,293,006
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 123 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STX4 syntaxin 4 ISO OMIM NCBI chr 5:27,725,121...27,734,442
Ensembl chr 5:27,724,495...27,732,736
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 124 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PKHD1L1 PKHD1 like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 ClinVar
OMIM
PMID:38459354 NCBI chr 8:104,072,701...104,230,809
Ensembl chr 8:104,073,327...104,230,960
JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103233686 PDZ domain-containing protein GIPC3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 OMIM
ClinVar
PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More... NCBI chr 6:3,345,218...3,349,422
Ensembl chr 6:3,345,595...3,349,176
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 chr26:39,300,273...39,325,846 JBrowse link
G FRMD5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr26:38,847,310...39,179,487
Ensembl chr26:39,119,525...39,170,954
JBrowse link
G LOC103245735 stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition OMIM
ClinVar
PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chr26:39,376,441...39,397,613
Ensembl chr26:39,378,318...39,401,072
JBrowse link
G LOC103246095 creatine kinase U-type, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr26:39,397,797...39,401,046 JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr26:39,273,982...39,300,170
Ensembl chr26:39,272,997...39,349,966
JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868
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 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834
JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A OMIM
ClinVar
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834
JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOG otogelin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition OMIM
ClinVar
PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More... NCBI chr 1:47,323,579...47,428,029
Ensembl chr 1:47,325,745...47,425,607
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 chr 3:567,937...704,109
Ensembl chr 3:567,931...688,388
JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:352,063...418,220
Ensembl chr 3:352,114...395,586
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:19894250 PMID:29572252 PMID:30820731 PMID:30871974 PMID:31980658 NCBI chr 4:57,048,262...57,128,338
Ensembl chr 4:57,045,018...57,128,307
JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:820,352...852,003
Ensembl chr 3:846,982...848,286
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM
ClinVar
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059
JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 ClinVar
OMIM
PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:98,100,285...98,106,517
Ensembl chr20:98,102,413...98,103,225
JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr20:98,125,073...98,126,343
Ensembl chr20:98,125,345...98,126,145
JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM
ClinVar
PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr 3:775,410...783,770
Ensembl chr 3:782,251...783,036
JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583
JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:401,525...421,725 JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:242,281...348,298
Ensembl chr 3:301,551...343,468
JBrowse link
autosomal recessive nonsyndromic deafness 1B 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 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr 3:567,937...704,109
Ensembl chr 3:567,931...688,388
JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:352,063...418,220
Ensembl chr 3:352,114...395,586
JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:820,352...852,003
Ensembl chr 3:846,982...848,286
JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:3 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059
JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b OMIM
ClinVar
PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr 3:775,410...783,770
Ensembl chr 3:782,251...783,036
JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583
JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:401,525...421,725 JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:242,281...348,298
Ensembl chr 3:301,551...343,468
JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 2 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342
JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 OMIM
ClinVar
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236