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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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



show annotations for term's descendants           Sort by:
Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AK2 adenylate kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19043416 NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996
JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:11406631 RGD:734598 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771
JBrowse link
G BDNF brain derived neurotrophic factor treatment IDA
EXP
ISO
CTD Direct Evidence: therapeutic CTD
RGD
PMID:18607918 PMID:19365690 PMID:21452221 PMID:23150788 RGD:8639313, RGD:8655576 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058
JBrowse link
G BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB IAGP ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 5:71,455,651...71,578,288
Ensembl chr 5:71,455,651...71,567,820
JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15357422 PMID:10929716 RGD:1300292 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733
JBrowse link
G CDC14A cell division cycle 14A EXP CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 1:100,345,001...100,520,277
Ensembl chr 1:100,345,001...100,520,277
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050
JBrowse link
G CLDN14 claudin 14 susceptibility IAGP
EXP
DNA:deletion, missense mutation: :398delT, p.V85D
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:11163249 PMID:11163249 RGD:1600866 NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569
JBrowse link
G COCH cochlin susceptibility IAGP deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations RGD PMID:9806553 RGD:1600878 NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065
JBrowse link
G CRYM crystallin mu IAGP DNA:missense mutation:cds:p.K314T (human) RGD PMID:12471561 RGD:734836 NCBI chr16:21,258,521...21,303,062
Ensembl chr16:21,238,874...21,303,083
JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329
JBrowse link
G ESPN espin ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:15286153 PMID:15930085 PMID:10975527 RGD:734943 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367
JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:19293293 RGD:8553051 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112
JBrowse link
G GJB1 gap junction protein beta 1 treatment ISO RGD PMID:21813206 RGD:7364894 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516
JBrowse link
G GJB2 gap junction protein beta 2 ISO
IAGP
EXP
ClinVar Annotator: match by term: Deafness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... RGD:7364799 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GJB3 gap junction protein beta 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9843210 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545
JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 4:42,892,713...43,030,658
Ensembl chr 4:42,892,713...43,030,658
JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:20661454 RGD:8549497 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744
JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247
JBrowse link
G JAG1 jagged canonical Notch ligand 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:12618319 RGD:8662867 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483
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 chr 1:233,614,106...233,672,514
Ensembl chr 1:233,614,106...233,672,514
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 chr14:88,180,108...88,326,912
Ensembl chr14:88,180,103...88,326,907
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 chr 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420
JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105
JBrowse link
G LOC106501712 CLCNKA recombination region IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:16,023,929...16,036,205 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220
JBrowse link
G LRRC51 leucine rich repeat containing 51 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18953341 NCBI chr11:72,080,850...72,096,895
Ensembl chr11:72,080,337...72,096,895
JBrowse link
G MARVELD2 MARVEL domain containing 2 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 5:69,415,116...69,444,330
Ensembl chr 5:69,415,065...69,444,330
JBrowse link
G MITF melanocyte inducing transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336
JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA EXP CTD Direct Evidence: marker/mechanism CTD PMID:9391883 PMID:12031626 PMID:12037390 PMID:15722487 NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601
JBrowse link
G MYO7A myosin VIIA ISO
IAGP
DNA:mutations:cds:multiple (mouse)
ClinVar Annotator: match by term: Deafness
DNA:nonsense mutation:cds
DNA:deletions:exons
ClinVar
RGD
PMID:22135276 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... RGD:4892285, RGD:1581470, RGD:8694136 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G OTOF otoferlin ISO
IAGP
EXP
ClinVar Annotator: match by term: Deafness
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:17967520 PMID:30303587 PMID:17055430 RGD:9491387 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756
JBrowse link
G OTOG otogelin IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150
JBrowse link
G PAX3 paired box 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998
JBrowse link
G PCDH15 protocadherin related 15 EXP
ISO
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat)
CTD
RGD
PMID:10978835 PMID:19151506 RGD:2306012 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G PJVK pejvakin EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness
CTD
ClinVar
PMID:17301963 PMID:17329413 PMID:17718875 PMID:19888295 PMID:21696384 More... NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G POLR2C RNA polymerase II subunit C IAGP ClinVar Annotator: match by term: Deafness ClinVar NCBI chr16:57,462,679...57,472,009
Ensembl chr16:57,462,660...57,472,009
JBrowse link
G POLR2F RNA polymerase II, I and III subunit F IAGP ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chr22:37,953,663...38,041,915
Ensembl chr22:37,952,607...38,041,915
JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP RGD PMID:9298820 PMID:7839145 RGD:1599156, RGD:1599155 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127
JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP RGD PMID:9506947 RGD:1599168 NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728
JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273
JBrowse link
G RAI1 retinoic acid induced 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
G RET ret proto-oncogene ISO mRNA:increased expression:vestibulocochlear VIII nerve cochlear component RGD PMID:16738479 RGD:2324943 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
JBrowse link
G SERAC1 serine active site containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280
JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP RGD PMID:10391221 RGD:1599325 NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944
JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP
ISO
IMP
DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human)
ClinVar Annotator: match by term: Deafness
human gene in mouse model
DNA:missense mutation:cds:p.L445W (human)
DNA:mutations:multiple (human)
ClinVar
RGD
PMID:11317356 PMID:28492532 PMID:29372807 PMID:30303587 PMID:34170635 More... RGD:1599217, RGD:7411670, RGD:7411562, RGD:7411559, RGD:11062194, RGD:1599215 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204
JBrowse link
G SLC26A5 solute carrier family 26 member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12719379 NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207
JBrowse link
G SMAD4 SMAD family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108
JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490
JBrowse link
G TMC1 transmembrane channel like 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:11850618 PMID:16199547 PMID:22105175 PMID:28492532 PMID:30303587 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297
JBrowse link
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27311106 NCBI chr12:82,686,906...83,134,866
Ensembl chr12:82,686,880...83,134,870
JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556
JBrowse link
G USH1G USH1 protein network component sans IAGP Usher syndrome, type IG, OMIM:607696
ClinVar Annotator: match by term: Deafness
ClinVar
RGD
PMID:25741868 PMID:30303587 PMID:12588794 RGD:1599547 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366
JBrowse link
G WHRN whirlin IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473
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 IAGP 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 chr 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112
JBrowse link
G AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 IAGP 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 chr 6:161,129,967...161,274,061
Ensembl chr 6:161,129,967...161,274,061
JBrowse link
G AIRN antisense of IGF2R non-protein coding RNA IAGP 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 chr 6:160,003,291...160,007,664
Ensembl chr 6:160,003,291...160,007,664
JBrowse link
G DYNLT1 dynein light chain Tctex-type 1 IAGP 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 chr 6:158,636,474...158,644,743
Ensembl chr 6:158,636,474...158,644,743
JBrowse link
G EZR ezrin IAGP 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 chr 6:158,765,748...158,819,368
Ensembl chr 6:158,765,741...158,819,368
JBrowse link
G FNDC1 fibronectin type III domain containing 1 IAGP 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 chr 6:159,169,400...159,272,108
Ensembl chr 6:159,169,400...159,272,108
JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP 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 chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
JBrowse link
G IGF2R insulin like growth factor 2 receptor IAGP 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 chr 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507
JBrowse link
G LINC02901 long intergenic non-protein coding RNA 2901 IAGP 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 chr 6:158,869,814...158,910,353
Ensembl chr 6:158,869,848...158,919,105
JBrowse link
G LPA lipoprotein(a) IAGP 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 chr 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275
JBrowse link
G MAP3K4 mitogen-activated protein kinase kinase kinase 4 IAGP 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 chr 6:160,991,769...161,117,380
Ensembl chr 6:160,991,727...161,117,385
JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor IAGP 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 chr 6:159,888,787...159,917,447
Ensembl chr 6:159,890,988...159,917,447
JBrowse link
G MRPL18 mitochondrial ribosomal protein L18 IAGP 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 chr 6:159,789,812...159,798,429
Ensembl chr 6:159,789,812...159,798,436
JBrowse link
G PLG plasminogen IAGP 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 chr 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097
JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP 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 chr 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704
JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP 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 chr 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775
JBrowse link
G RSPH3 radial spoke head 3 IAGP 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 chr 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202
JBrowse link
G SERAC1 serine active site containing 1 IAGP
ISS
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ClinVar Annotator: match by term: SERAC1-related neurological disorder
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome
OMIM:614739
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280
JBrowse link
G SLC22A1 solute carrier family 22 member 1 IAGP 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 chr 6:160,121,815...160,158,718
Ensembl chr 6:160,121,815...160,158,718
JBrowse link
G SLC22A2 solute carrier family 22 member 2 IAGP 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 chr 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638
JBrowse link
G SLC22A3 solute carrier family 22 member 3 IAGP 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 chr 6:160,348,378...160,452,577
Ensembl chr 6:160,348,378...160,452,577
JBrowse link
G SOD2 superoxide dismutase 2 IAGP 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 chr 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529
JBrowse link
G SYTL3 synaptotagmin like 3 IAGP 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 chr 6:158,644,936...158,764,871
Ensembl chr 6:158,650,014...158,764,876
JBrowse link
G TAGAP T cell activation RhoGTPase activating protein IAGP 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 chr 6:159,034,481...159,044,991
Ensembl chr 6:159,034,468...159,095,823
JBrowse link
G TCP1 t-complex 1 IAGP 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 chr 6:159,778,498...159,789,602
Ensembl chr 6:159,778,498...159,789,703
JBrowse link
G TMEM181 transmembrane protein 181 IAGP 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 chr 6:158,536,640...158,635,429
Ensembl chr 6:158,536,436...158,635,433
JBrowse link
G TULP4 TUB like protein 4 IAGP 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 chr 6:158,232,195...158,511,828
Ensembl chr 6:158,232,236...158,511,828
JBrowse link
G WTAP WT1 associated protein IAGP 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 chr 6:159,726,693...159,756,319
Ensembl chr 6:159,725,585...159,756,319
JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CO1 mitochondrially encoded cytochrome c oxidase I IAGP ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262
JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA IAGP ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601
JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY
CTD
ClinVar
PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP
EXP
ClinVar Annotator: match by term: Aminoglycoside-induced deafness
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of
OMIM
ClinVar
CTD
PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340
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 IAGP 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 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP
EXP
ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993
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 IAGP
ISS
EXP
ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1
ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition
OMIM:609129
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 More... NCBI chr13:59,665,583...60,163,928
Ensembl chr13:59,665,583...60,163,928
JBrowse link
G DIAPH3-AS1 DIAPH3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 ClinVar PMID:15520414 PMID:25741868 PMID:28492532 NCBI chr13:60,012,718...60,044,357
Ensembl chr13:60,012,734...60,044,357
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 IAGP OMIM NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
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 IAGP ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar
PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 More... NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680
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 IAGP
ISS
EXP
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
OMIM:124480
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819
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 IAGP
EXP
DNA:missense mutations:cds:p.P17T, p.V18P (human)
ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
ClinVar
CTD
OMIM
RGD
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873
JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC121852992 Sharpr-MPRA regulatory region 11309 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:28492532 NCBI chr19:50,230,392...50,230,686 JBrowse link
G MYH14 myosin heavy chain 14 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542
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
IAGP
ISS
EXP
p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
OMIM:148210
CTD Direct Evidence: marker/mechanism
p.G45E(mouse)
DNA:mutation:cd:p.D50N(human)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:7364809, RGD:7364889, RGD:7364885, RGD:7364813, RGD:7364811 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
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 IAGP ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss ClinVar PMID:25741868 PMID:33111345 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964
JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007
JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,668...122,226,062
JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112
JBrowse link
G LOC101927521 uncharacterized LOC101927521 IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chr18:21,380,044...21,451,047 JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537
JBrowse link
G PDE1C phosphodiesterase 1C IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chr 7:31,616,777...32,428,224
Ensembl chr 7:31,751,179...32,428,131
JBrowse link
G PLS1 plastin 1 IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment
ClinVar PMID:30872814 PMID:31397523 NCBI chr 3:142,596,393...142,713,664
Ensembl chr 3:142,596,393...142,713,664
JBrowse link
G SIX1 SIX homeobox 1 IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
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 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 1
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055
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 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 10
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 More... NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128
JBrowse link
G LOC126859796 MED14-independent group 3 enhancer GRCh37_chr6:133826289-133827488 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 10
ClinVar Annotator: match by term: EYA4-Related Disorders
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28798025 PMID:32107406 More... NCBI chr 6:133,505,151...133,506,350 JBrowse link
G TARID TCF21 antisense RNA inducing promoter demethylation IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 10
ClinVar Annotator: match by term: EYA4-Related Disorders
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders
ClinVar PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 PMID:17568404 More... NCBI chr 6:133,502,252...133,889,006
Ensembl chr 6:133,502,252...133,892,802
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 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 11
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:3130723 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 More... NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861365 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar PMID:21520338 PMID:24033266 PMID:25262649 PMID:25741868 PMID:27068579 More... NCBI chr11:121,129,445...121,130,644 JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 More... NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108
JBrowse link
G TECTA tectorin alpha IAGP
ISS
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12
OMIM:601543
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 More... NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490
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 IAGP
ISS
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 13
OMIM:601868
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:21204229 More... NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC127814297 RBM27-POU4F3 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 15
ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition
ClinVar PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More... NCBI chr 5:146,203,605...146,341,728 JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 15
ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More... NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728
JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRC stereocilin IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800
JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108
JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112695089 Sharpr-MPRA regulatory region 2056 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 17 ClinVar NCBI chr22:36,387,611...36,388,278 JBrowse link
G LOC126863137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 17
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17
ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr22:36,299,956...36,301,155 JBrowse link
G MYH9 myosin heavy chain 9 IAGP
EXP
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
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 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 20
ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847
JBrowse link
G LOC130061940 ATAC-STARR-seq lymphoblastoid active region 12964 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 20 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29357087 More... NCBI chr17:81,512,245...81,512,334 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 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 21
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 NCBI chr 6:24,804,284...25,042,168
Ensembl chr 6:24,804,282...25,042,170
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 IAGP
ISS
ClinVar Annotator: match by term: Deafness, autosomal dominant 22
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22
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
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22
OMIM:606346
ClinVar
MouseDO
OMIM
PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537
JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130055766 ATAC-STARR-seq lymphoblastoid silent region 5813 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 23 ClinVar NCBI chr14:60,649,394...60,649,633 JBrowse link
G MIR9718 microRNA 9718 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 23 ClinVar PMID:25741868 NCBI chr14:60,648,648...60,648,711 JBrowse link
G SIX1 SIX homeobox 1 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 23
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259
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 IAGP
ISS
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 25
OMIM:605583
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr12:100,357,074...100,422,055
Ensembl chr12:100,357,074...100,422,055
JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISS OMIM:605583 MouseDO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 27 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808
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 IAGP
EXP
DNA:nonsense mutation:exon:
ClinVar Annotator: match by term: Deafness, autosomal dominant 28
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1599382 NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726
JBrowse link
G LOC126860461 CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:102655529-102656728 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 28 ClinVar PMID:12393799 NCBI chr 8:101,643,301...101,644,505 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 IAGP
EXP
ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: KCNQ4-related condition
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A
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: KCNQ4-related condition
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
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 More... NCBI chr 1:40,783,787...40,840,452
Ensembl chr 1:40,783,787...40,840,452
JBrowse link
G LOC129930282 ATAC-STARR-seq lymphoblastoid active region 855 IAGP ClinVar Annotator: match by term: KCNQ4-related condition ClinVar PMID:20301388 PMID:25741868 PMID:26036578 PMID:28492532 NCBI chr 1:40,818,503...40,818,552 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 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 2b
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:9843210 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 More... NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 30 ClinVar PMID:32519820 NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation OMIM
ClinVar
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,332,331...247,449,108
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 IAGP
ISS
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 36
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition
OMIM:606705
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 More... NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872
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 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 3a
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GJB4 gap junction protein beta 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3a ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:27480936 PMID:28492532 NCBI chr13:20,403,669...20,525,857
Ensembl chr13:20,403,666...20,525,873
JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,728,731...20,773,961
Ensembl chr13:20,728,731...20,773,961
JBrowse link
G GJA3 gap junction protein alpha 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,138,255...20,161,565
Ensembl chr13:20,138,255...20,161,052
JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GJB6 gap junction protein beta 6 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 3b
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
JBrowse link
G IFT88 intraflagellar transport 88 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444
JBrowse link
G IL17D interleukin 17D IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098
JBrowse link
G LOC112163647 Sharpr-MPRA regulatory region 6807 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,506,870...20,507,164 JBrowse link
G LOC121466728 Sharpr-MPRA regulatory region 3329 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,534,370...20,534,664 JBrowse link
G LOC124849292 Sharpr-MPRA regulatory region 1468 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,717,550...20,717,844 JBrowse link
G LOC126861703 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:20748586-20749785 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,174,447...20,175,646 JBrowse link
G LOC126861704 BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,379,837...20,381,036 JBrowse link
G LOC126861705 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,419,027...20,420,226 JBrowse link
G LOC130009312 ATAC-STARR-seq lymphoblastoid silent region 5150 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,160,783...20,160,872 JBrowse link
G LOC130009313 ATAC-STARR-seq lymphoblastoid silent region 5151 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,161,033...20,161,112 JBrowse link
G LOC130009314 ATAC-STARR-seq lymphoblastoid silent region 5152 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,161,343...20,161,702 JBrowse link
G LOC130009315 ATAC-STARR-seq lymphoblastoid active region 7417 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,219,572...20,219,751 JBrowse link
G LOC130009316 ATAC-STARR-seq lymphoblastoid active region 7418 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,425,154...20,425,203 JBrowse link
G LOC130009317 ATAC-STARR-seq lymphoblastoid active region 7419 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,425,214...20,425,453 JBrowse link
G LOC130009318 ATAC-STARR-seq lymphoblastoid active region 7420 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,425,886...20,425,945 JBrowse link
G LOC130009319 ATAC-STARR-seq lymphoblastoid active region 7421 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,426,006...20,426,065 JBrowse link
G LOC130009320 ATAC-STARR-seq lymphoblastoid active region 7422 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,476,106...20,476,305 JBrowse link
G LOC130009321 ATAC-STARR-seq lymphoblastoid active region 7423 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,476,376...20,476,425 JBrowse link
G LOC130009322 ATAC-STARR-seq lymphoblastoid silent region 5153 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,525,533...20,526,082 JBrowse link
G LOC130009323 ATAC-STARR-seq lymphoblastoid active region 7424 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,526,263...20,526,372 JBrowse link
G LOC130009324 ATAC-STARR-seq lymphoblastoid active region 7425 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,528,721...20,528,830 JBrowse link
G LOC130009325 ATAC-STARR-seq lymphoblastoid silent region 5154 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,566,857...20,567,266 JBrowse link
G LOC130009326 ATAC-STARR-seq lymphoblastoid silent region 5155 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,703,081...20,703,160 JBrowse link
G LOC130009327 ATAC-STARR-seq lymphoblastoid silent region 5156 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,703,581...20,703,720 JBrowse link
G LOC130009328 ATAC-STARR-seq lymphoblastoid silent region 5157 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,704,011...20,704,520 JBrowse link
G LOC130009329 ATAC-STARR-seq lymphoblastoid active region 7426 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,773,316...20,773,535 JBrowse link
G LOC132090175 Neanderthal introgressed variant-containing enhancer experimental_32461 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,273,378...20,273,547 JBrowse link
G MIR4499 microRNA 4499 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,433,778...20,433,846
Ensembl chr13:20,433,778...20,433,846
JBrowse link
G XPO4 exportin 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,777,329...20,902,774
Ensembl chr13:20,777,329...20,903,048
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 40 OMIM
ClinVar
PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:21,258,521...21,303,062
Ensembl chr16:21,238,874...21,303,083
JBrowse link
G LOC130058620 ATAC-STARR-seq lymphoblastoid active region 10553 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 40 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:21,278,082...21,278,291 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 IAGP
ISS
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 41
ClinVar Annotator: match by term: P2RX2-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition
OMIM:608224
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chr12:132,618,776...132,622,388
Ensembl chr12:132,618,776...132,622,388
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 IAGP
EXP
DNA:duplication:cds:c.1394_1401dupCACGGCAT(human)
ClinVar Annotator: match by term: Deafness, autosomal dominant 44
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 More... RGD:9685138 NCBI chr 3:191,329,394...191,398,659
Ensembl chr 3:191,329,085...191,398,659
JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861538 BRD4-independent group 4 enhancer GRCh37_chr12:57440635-57441834 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chr12:57,046,851...57,048,050 JBrowse link
G MYO1A myosin IA IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chr12:57,028,517...57,051,198
Ensembl chr12:57,028,517...57,051,198
JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISS OMIM:600652 MouseDO NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718
JBrowse link
G LOC121852992 Sharpr-MPRA regulatory region 11309 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4A ClinVar PMID:28492532 NCBI chr19:50,230,392...50,230,686 JBrowse link
G MYH14 myosin heavy chain 14 IAGP 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
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 chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4b ClinVar
OMIM
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718
JBrowse link
G CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4b ClinVar PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,631,573...44,725,217
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 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 5
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 More... NCBI chr 7:24,698,355...24,795,539
Ensembl chr 7:24,698,355...24,757,940
JBrowse link
G LOC129998098 ATAC-STARR-seq lymphoblastoid active region 25750 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:24,718,874...24,719,063 JBrowse link
G LOC129998104 ATAC-STARR-seq lymphoblastoid active region 25754 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 5 ClinVar NCBI chr 7:24,757,734...24,757,963 JBrowse link
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR96 microRNA 96 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 50 ClinVar
OMIM
PMID:14757864 PMID:19363479 NCBI chr 7:129,774,692...129,774,769
Ensembl chr 7:129,774,692...129,774,769
JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC124292588 Sharpr-MPRA regulatory region 4978 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,204,473...69,204,767 JBrowse link
G LOC130001864 ATAC-STARR-seq lymphoblastoid silent region 19932 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,121,690...69,121,859 JBrowse link
G LOC130001865 ATAC-STARR-seq lymphoblastoid active region 28446 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,155,380...69,155,439 JBrowse link
G LOC130001866 ATAC-STARR-seq lymphoblastoid silent region 19933 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,173,866...69,174,295 JBrowse link
G LOC130001867 ATAC-STARR-seq lymphoblastoid active region 28447 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,175,186...69,175,375 JBrowse link
G TJP2 tight junction protein 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar PMID:20602916 NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DELEC1 deleted in esophageal cancer 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 9:115,141,818...115,402,644
Ensembl chr 9:114,850,968...115,402,644
JBrowse link
G LOC126860740 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:117797665-117798864 IAGP ClinVar Annotator: match by term: TNC-related condition ClinVar PMID:25741868 NCBI chr 9:115,035,386...115,036,585 JBrowse link
G LOC126860741 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:117825442-117826641 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition ClinVar PMID:25741868 PMID:28492532 PMID:36597107 NCBI chr 9:115,063,163...115,064,362 JBrowse link
G PAPPA pappalysin 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 9:116,153,791...116,402,321
Ensembl chr 9:116,153,791...116,402,321
JBrowse link
G TNC tenascin C IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition OMIM
ClinVar
PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207
JBrowse link
G TNFSF8 TNF superfamily member 8 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595
JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129992166 ATAC-STARR-seq lymphoblastoid silent region 15229 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More... NCBI chr 4:6,269,828...6,269,937 JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:8595423 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 64 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:122,203,709...122,208,952
Ensembl chr12:122,203,681...122,208,952
JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 64 OMIM
ClinVar
PMID:21722859 PMID:25741868 PMID:28492532 NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,668...122,226,062
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 65 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854
JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560
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 IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 OMIM
ClinVar
PMID:25741868 PMID:26197441 NCBI chr 6:109,366,514...109,382,467
Ensembl chr 6:109,366,514...109,382,467
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 ISS OMIM:616340 MouseDO NCBI chr20:62,228,243...62,236,301
Ensembl chr20:62,231,922...62,296,213
JBrowse link
G OSBPL2 oxysterol binding protein like 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 67 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:25759012 PMID:28492532 NCBI chr20:62,238,521...62,296,183
Ensembl chr20:62,231,922...62,296,213
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 68 OMIM
ClinVar
PMID:25741868 PMID:25816005 PMID:30047143 NCBI chr15:82,834,661...82,986,157
Ensembl chr15:82,836,946...82,986,153
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 IAGP 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 chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851
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 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 7
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227 NCBI chr 1:165,201,867...165,356,715
Ensembl chr 1:165,201,867...165,356,715
JBrowse link
G LMX1A-AS2 LMX1A antisense RNA 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 7 ClinVar PMID:25741868 PMID:29754270 NCBI chr 1:165,204,047...165,212,923
Ensembl chr 1:165,210,627...165,213,090
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 70 ClinVar
OMIM
PMID:25741868 PMID:26196677 PMID:28492532 NCBI chr 3:127,598,411...127,622,436
Ensembl chr 3:127,598,223...127,622,436
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 71 OMIM
ClinVar
PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 More... NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 72 ClinVar
OMIM
PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr 6:31,863,192...31,878,997
Ensembl chr 6:31,863,192...31,879,046
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 73
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73
ClinVar
OMIM
PMID:25741868 PMID:26467025 PMID:29309402 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 74 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29860631 NCBI chr 7:31,616,777...32,428,224
Ensembl chr 7:31,751,179...32,428,131
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 75 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31231791 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 76
ClinVar Annotator: match by term: PLS1-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition
ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chr 3:142,596,393...142,713,664
Ensembl chr 3:142,596,393...142,713,664
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) IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar
PMID:31273342 NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257
JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129994526 ATAC-STARR-seq lymphoblastoid silent region 16295 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 78 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:128,083,430...128,084,259 JBrowse link
G SLC12A2 solute carrier family 12 member 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 78 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32294086 PMID:32658972 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 79 OMIM
ClinVar
PMID:31972369 NCBI chr 4:82,629,539...82,798,796
Ensembl chr 4:82,629,539...82,798,796
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 80 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29955957 PMID:32585897 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112
JBrowse link
G LOC101927521 uncharacterized LOC101927521 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 80 ClinVar PMID:25741868 PMID:29955957 PMID:32585897 NCBI chr18:21,380,044...21,451,047 JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 80 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 81 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29713870 NCBI chr 2:85,354,769...85,391,748
Ensembl chr 2:85,354,394...85,391,752
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 IAGP ClinVar Annotator: match by term: ATP2B2-related disorder
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 82
ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment
OMIM
ClinVar
PMID:15829536 PMID:22047666 PMID:25741868 PMID:26467025 PMID:27535533 More... NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 83 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33268592 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565
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 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar
OMIM
PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168
JBrowse link
G LOC130010167 ATAC-STARR-seq lymphoblastoid silent region 5534 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar PMID:35278131 NCBI chr13:112,689,641...112,690,570 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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 85 OMIM
ClinVar
PMID:25741868 PMID:34059922 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THOC1 THO complex subunit 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 86 ClinVar
OMIM
PMID:32776944 NCBI chr18:214,520...268,047
Ensembl chr18:214,520...268,050
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 87 OMIM
ClinVar
PMID:33358777 NCBI chr 1:151,291,797...151,327,715
Ensembl chr 1:151,291,797...151,327,715
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 88 OMIM
ClinVar
PMID:25741868 NCBI chr 1:37,713,880...37,765,120
Ensembl chr 1:37,713,880...37,765,133
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 89 ClinVar
OMIM
PMID:25741868 PMID:33111345 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964
JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL049830.3 novel transcript, antisense to COCH IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 9 ClinVar PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808
JBrowse link
G COCH cochlin IAGP
ISS
EXP
ClinVar Annotator: match by term: Deafness, autosomal dominant 9
OMIM:601369
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 90 OMIM
ClinVar
PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532
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 IAGP ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580
JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
JBrowse link
G ANAPC15 anaphase promoting complex subunit 15 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr11:72,106,372...72,112,780
Ensembl chr11:72,106,378...72,112,780
JBrowse link
G ANKRD36 ankyrin repeat domain 36 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 2:97,113,153...97,264,521
Ensembl chr 2:97,113,153...97,264,521
JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISS OMIM:607197 MouseDO NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431
JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172
JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
JBrowse link
G CABP2 calcium binding protein 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr11:67,518,912...67,523,446
Ensembl chr11:67,518,912...67,524,517
JBrowse link
G CDH23 cadherin related 23 IAGP DNA:missense mutations:multiple
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar
RGD
PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... RGD:8662281 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CIB2 calcium and integrin binding family member 2 IAGP 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 chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535
JBrowse link
G CLCC1 chloride channel CLIC like 1 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527
JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050
JBrowse link
G CLDN14 claudin 14 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569
JBrowse link
G CLDN14-AS1 CLDN14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 NCBI chr21:36,430,325...36,498,526 JBrowse link
G CLIC5 chloride intracellular channel 5 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 6:45,880,827...46,129,819
Ensembl chr 6:45,880,827...46,080,348
JBrowse link
G DYSF dysferlin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:28492532 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763
JBrowse link
G EDNRB endothelin receptor type B IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529
JBrowse link
G EDNRB-AS1 EDNRB antisense RNA 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr13:77,818,937...77,908,442
Ensembl chr13:77,779,723...77,844,145
JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329
JBrowse link
G ESPN espin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367
JBrowse link
G ESRRB estrogen related receptor beta IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 NCBI chr14:76,310,777...76,501,837
Ensembl chr14:76,310,712...76,501,837
JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr19:3,585,478...3,593,541
Ensembl chr19:3,585,478...3,593,541
JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G GJB3 gap junction protein beta 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:35802133 PMID:37074134 NCBI chr17:46,923,160...46,975,890
Ensembl chr17:46,923,075...46,975,524
JBrowse link
G GPR156 G protein-coupled receptor 156 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:37814107 NCBI chr 3:120,165,478...120,285,222
Ensembl chr 3:120,164,645...120,285,222
JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545
JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20137778 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr 4:42,892,713...43,030,658
Ensembl chr 4:42,892,713...43,030,658
JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 5:145,857,670...145,931,673
Ensembl chr 5:145,858,521...145,937,126
JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:15641023 PMID:21255762 PMID:25741868 PMID:30303587 NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483
JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 NCBI chr 6:35,805,352...35,824,070
Ensembl chr 6:35,797,206...35,845,397
JBrowse link
G LOC105371566 uncharacterized LOC105371566 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr17:18,107,691...18,117,561 JBrowse link
G LOC106501712 CLCNKA recombination region IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 1:16,023,929...16,036,205 JBrowse link
G LOC123956210 Sharpr-MPRA regulatory region 3291 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 7:107,709,864...107,710,158 JBrowse link
G LOC126861365 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr11:121,129,445...121,130,644 JBrowse link
G LOC127814297 RBM27-POU4F3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 5:146,203,605...146,341,728 JBrowse link
G LOC129996737 ATAC-STARR-seq lymphoblastoid silent region 17342 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 6:75,749,046...75,749,215 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:24033266 PMID:25741868 More... NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220
JBrowse link
G LRRC37A2 leucine rich repeat containing 37 member A2 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:35802133 PMID:37074134 NCBI chr17:46,372,792...47,049,128
Ensembl chr17:46,511,508...46,556,910
JBrowse link
G LRRC51 leucine rich repeat containing 51 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr11:72,080,850...72,096,895
Ensembl chr11:72,080,337...72,096,895
JBrowse link
G LRTOMT leucine rich transmembrane and O-methyltransferase domain containing IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:72,080,850...72,110,782
Ensembl chr11:72,080,331...72,110,782
JBrowse link
G MARVELD2 MARVEL domain containing 2 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:30303587 NCBI chr 5:69,415,116...69,444,330
Ensembl chr 5:69,415,065...69,444,330
JBrowse link
G MSRB3 methionine sulfoxide reductase B3 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chr12:65,278,683...65,466,907
Ensembl chr12:65,278,643...65,491,430
JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:17546645 PMID:25741868 PMID:27573290 PMID:28492532 PMID:30303587 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802
JBrowse link
G MYO3A myosin IIIA IAGP 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 NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532
JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537
JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
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 chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
G OTOA otoancorin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935
JBrowse link
G OTOF otoferlin ISO
IAGP
DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar
RGD
PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:20301429 More... RGD:9479154 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756
JBrowse link
G OTOG otogelin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150
JBrowse link
G OTOGL otogelin like IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,880
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:28492532 PMID:30303587 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942
JBrowse link
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:28492532 PMID:31253780 NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
JBrowse link
G PJVK pejvakin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:24033266 More... NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102
JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728
JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:24033266 PMID:28492532 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512
JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251
JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273
JBrowse link
G RDX radixin IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712
JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204
JBrowse link
G SLC26A5 solute carrier family 26 member 5 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207
JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:30303587 NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108
JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:30303587 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490
JBrowse link
G TMC1 transmembrane channel like 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
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 chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297
JBrowse link
G TMIE transmembrane inner ear IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 More... NCBI chr 3:46,693,778...46,710,886
Ensembl chr 3:46,694,528...46,710,886
JBrowse link
G TMPRSS3 transmembrane serine protease 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
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 chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091
JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 2:28,956,518...29,052,230
Ensembl chr 2:28,956,611...29,052,230
JBrowse link
G TOMT transmembrane O-methyltransferase IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr11:72,105,924...72,109,596
Ensembl chr11:72,105,924...72,109,596
JBrowse link
G TPRN taperin IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20170899 PMID:30303587 NCBI chr 9:137,191,619...137,200,741
Ensembl chr 9:137,191,617...137,204,193
JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556
JBrowse link
G USH1C USH1 protein network component harmonin IAGP 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 chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:25741868 PMID:30303587 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366
JBrowse link
G WHRN whirlin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
ClinVar PMID:30303587 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 100 OMIM
ClinVar
PMID:15538632 PMID:25741868 PMID:29590114 NCBI chr 5:103,120,301...103,212,799
Ensembl chr 5:103,120,149...103,212,799
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 101 ClinVar
OMIM
PMID:24619944 PMID:25741868 PMID:28492532 NCBI chr 5:145,857,670...145,931,673
Ensembl chr 5:145,858,521...145,937,126
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 102 ClinVar
OMIM
PMID:24033266 PMID:24741995 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 103 ClinVar
OMIM
PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 NCBI chr 6:45,880,827...46,129,819
Ensembl chr 6:45,880,827...46,080,348
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G RIPOR2 RHO family interacting cell polarization regulator 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 104
ClinVar Annotator: match by term: RIPOR2-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition
ClinVar
OMIM
PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:24,804,284...25,042,168
Ensembl chr 6:24,804,282...25,042,170
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329
JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar
OMIM
PMID:25741868 PMID:26282398 PMID:28281779 PMID:28492532 PMID:32747562 NCBI chr11:706,231...727,727
Ensembl chr11:694,438...727,727
JBrowse link
G LOC130005076 ATAC-STARR-seq lymphoblastoid silent region 3016 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar NCBI chr11:720,719...720,978 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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 107 OMIM
ClinVar
PMID:25741868 PMID:26881968 PMID:28492532 NCBI chr17:75,845,699...75,856,436
Ensembl chr17:75,845,699...75,856,507
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 108 ClinVar
OMIM
PMID:25741868 PMID:27162350 PMID:28492532 NCBI chr 1:63,774,017...64,181,498
Ensembl chr 1:63,774,017...64,181,498
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 109 ClinVar
OMIM
PMID:25741868 PMID:29107558 NCBI chr 8:94,641,174...94,707,466
Ensembl chr 8:94,641,074...94,707,466
JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL049830.3 novel transcript, antisense to COCH IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 110 ClinVar PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808
JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 110 OMIM
ClinVar
PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065
JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZL2 myelin protein zero like 2 IAGP 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 chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 112 OMIM
ClinVar
PMID:24312468 PMID:25741868 NCBI chr 5:71,455,651...71,578,288
Ensembl chr 5:71,455,651...71,567,820
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 113 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718
JBrowse link
G CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 113 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,631,573...44,725,217
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 114 OMIM
ClinVar
PMID:25741868 PMID:30610177 NCBI chr17:19,020,656...19,051,373
Ensembl chr17:19,020,656...19,047,011
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 115 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr17:4,498,881...4,539,035
Ensembl chr17:4,498,881...4,539,035
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 116 OMIM
ClinVar
PMID:25741868 PMID:30311386 PMID:31175426 PMID:35802133 PMID:36633841 NCBI chr16:3,012,923...3,014,505
Ensembl chr