Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:Sensation Disorders
go back to main search page
Accession:DOID:9003045 term browser browse the term
Definition:Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM).
Synonyms:exact_synonym: Sensation Disorder;   Sensory Disorder;   Sensory Disorders;   Special Senses Disorder;   Special Senses Disorders
 primary_id: MESH:D012678;   RDO:0001889
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Sensation Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDYN prodynorphin EXP CTD Direct Evidence: marker/mechanism CTD PMID:19200067 NCBI chr20:1,978,756...1,994,285
Ensembl chr20:1,978,757...1,994,285
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 SERAC1 serine active site containing 1 IAGP ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar
OMIM
PMID:16527507, PMID:22683713, PMID:23707711, PMID:24033266, PMID:24997715, PMID:25016221, PMID:25741868, PMID:28482397, PMID:28492532, PMID:28778788, PMID:28916646, PMID:32313153 NCBI chr 6:158,109,515...158,168,270
Ensembl chr 6:158,109,519...158,168,280
JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 IAGP ClinVar Annotator: match by term: Abruzzo Erickson syndrome ClinVar
OMIM
PMID:839509, PMID:22784330 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774
JBrowse link
achromatopsia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:24033266, PMID:28041643 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,320...161,964,070
JBrowse link
G CABP4 calcium binding protein 4 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807, PMID:23714322, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chr11:67,452,403...67,461,774
Ensembl chr11:67,452,406...67,460,313
JBrowse link
G CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:28492532, PMID:30311386 NCBI chr12:1,791,963...1,922,606
Ensembl chr12:1,791,963...1,918,666
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20079539, PMID:20238023, PMID:20506298, PMID:20549516, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24903488, PMID:25168900, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26992781, PMID:27820752, PMID:28159970, PMID:28341476, PMID:28492532, PMID:28559085, PMID:29053603, PMID:30311386, PMID:30682209 NCBI chr 2:98,346,181...98,399,154
Ensembl chr 2:98,346,188...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:1347967, PMID:1572225, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25558176, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:27479814, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709, PMID:32860008 NCBI chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
G GNAT2 G protein subunit alpha transducin 2 IAGP ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,254...109,619,929
JBrowse link
G PDE6C phosphodiesterase 6C IAGP
ISS
ClinVar Annotator: match by term: Achromatopsia ClinVar
MouseDO
PMID:10393054, PMID:18614542, PMID:19615668, PMID:19887631, PMID:23776498, PMID:25741868, PMID:26103963, PMID:28041643, PMID:28492532, PMID:28704108, PMID:30080950 NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
JBrowse link
Achromatopsia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP DNA:missense mutations:exon:c.682G>A (p.E228K), c.1315C>T (p.R439W), c.1405G>A (p.A469T) (human)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
ClinVar PMID:9662398, PMID:11536077, PMID:14757870, PMID:15712225, PMID:16961972, PMID:17693388, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24903488, PMID:25616768, PMID:25741868, PMID:25943428, PMID:26992781, PMID:28492532, PMID:30311386, PMID:30682209, PMID:18521937 RGD:9068452 NCBI chr 2:98,346,181...98,399,154
Ensembl chr 2:98,346,188...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 treatment IAGP
IMP
ISO
DNA:deletion: :c.1148delC (human)
ClinVar Annotator: match by term: Rod monochromacy
ClinVar Annotator: match by term: Rod monochromatism
ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:17652762, PMID:20079539, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25558176, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:29769798, PMID:30311386, PMID:30718709, PMID:32860008, PMID:17265047, PMID:21576125, PMID:21576125 RGD:9068446, RGD:9068450, RGD:9068450 NCBI chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
achromatopsia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 IAGP ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:9466990, PMID:9666097, PMID:9973280, PMID:10413692, PMID:10958763, PMID:11702214, PMID:12192456, PMID:12796258, PMID:16303926, PMID:18285826, PMID:18854780, PMID:19074458, PMID:24033266, PMID:24265693, PMID:26872967, PMID:28041643, PMID:28118664, PMID:28492532, PMID:29162642, PMID:29555955, PMID:29854428, PMID:30311386, PMID:30718709, PMID:31576780 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G CNGA3 cyclic nucleotide gated channel subunit alpha 3 IAGP ClinVar Annotator: match by term: Achromatopsia 2
ClinVar Annotator: match by term: Rod monochromacy 2
ClinVar
OMIM
PMID:9662398, PMID:11536077, PMID:14715947, PMID:14757870, PMID:15712225, PMID:15980212, PMID:16961972, PMID:17265047, PMID:17693388, PMID:18445228, PMID:18521937, PMID:20079539, PMID:20238023, PMID:20549516, PMID:21778272, PMID:23972307, PMID:24033266, PMID:24148654, PMID:24504161, PMID:24676353, PMID:24903488, PMID:24906859, PMID:25168900, PMID:25616768, PMID:25637600, PMID:25741868, PMID:25943428, PMID:26106334, PMID:26407004, PMID:26493561, PMID:26992781, PMID:28041643, PMID:28159970, PMID:28492532, PMID:29099798, PMID:30289319, PMID:30311386, PMID:30337596, PMID:30682209 NCBI chr 2:98,346,181...98,399,154
Ensembl chr 2:98,346,188...98,398,601
Ensembl chr 2:98,346,188...98,398,601
JBrowse link
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP ClinVar Annotator: match by term: Total colorblindness ClinVar PMID:1347967, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12815043, PMID:14757870, PMID:15657609, PMID:15712225, PMID:16379026, PMID:17265047, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25741868, PMID:25770143, PMID:28041643, PMID:28492532, PMID:28795510, PMID:30311386, PMID:30718709, PMID:32860008 NCBI chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
achromatopsia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNGB3 cyclic nucleotide gated channel subunit beta 3 IAGP ClinVar Annotator: match by term: Achromatopsia 3
ClinVar Annotator: match by term: Total colorblindness with myopia
ClinVar
OMIM
PMID:1347967, PMID:1572225, PMID:10888875, PMID:10958649, PMID:11124331, PMID:12357335, PMID:12815043, PMID:14757870, PMID:15223812, PMID:15459792, PMID:15657609, PMID:15712225, PMID:16319819, PMID:16379026, PMID:17265047, PMID:17652762, PMID:19592100, PMID:20079539, PMID:20574029, PMID:22264887, PMID:23776498, PMID:23805033, PMID:24033266, PMID:24148654, PMID:25205868, PMID:25474149, PMID:25558076, PMID:25558176, PMID:25616768, PMID:25741868, PMID:25770143, PMID:26106334, PMID:26992781, PMID:27479814, PMID:27874104, PMID:28005958, PMID:28041643, PMID:28224992, PMID:28492532, PMID:28795510, PMID:29186038, PMID:29769798, PMID:30311386, PMID:30337596, PMID:30718709, PMID:32860008 NCBI chr 8:86,573,608...86,743,634
Ensembl chr 8:86,553,977...86,743,675
JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAT2 G protein subunit alpha transducin 2 IAGP ClinVar Annotator: match by term: Achromatopsia 4 ClinVar
OMIM
PMID:12077706, PMID:12205108, PMID:15557429, PMID:21107338, PMID:25741868, PMID:28492532 NCBI chr 1:109,603,091...109,619,616
Ensembl chr 1:109,603,254...109,619,929
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE6C phosphodiesterase 6C IAGP ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19887631, PMID:25741868, PMID:30080950 NCBI chr10:93,612,537...93,666,010
Ensembl chr10:93,612,537...93,666,010
JBrowse link
achromatopsia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 IAGP ClinVar Annotator: match by term: Achromatopsia 7 ClinVar
OMIM
PMID:24824130, PMID:26029869, PMID:26063662 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,320...161,964,070
JBrowse link
Amaurosis Fugax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP1 matrix metallopeptidase 1 IDA RGD PMID:15073384 RGD:1582361 NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,919...102,798,160
JBrowse link
G PPP1R15A protein phosphatase 1 regulatory subunit 15A ISO mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chr19:48,872,392...48,876,062
Ensembl chr19:48,872,421...48,876,058
JBrowse link
amblyopia 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: Lazy eye ClinVar PMID:25741868, PMID:30311386 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,966
Ensembl chr 4:93,828,753...93,830,966
JBrowse link
G CACNA1F calcium voltage-gated channel subunit alpha1 F IAGP ClinVar Annotator: match by term: Lazy eye ClinVar PMID:30311386 NCBI chr  X:49,205,063...49,233,404
Ensembl chr  X:49,205,063...49,233,371
JBrowse link
G PPARGC1A PPARG coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 4:23,792,021...24,472,905
Ensembl chr 4:23,755,041...23,904,089
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868 NCBI chr 6:10,396,677...10,419,897
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TSEN54 tRNA splicing endonuclease subunit 54 IAGP ClinVar Annotator: match by term: Lazy eye ClinVar PMID:15109492, PMID:16470708, PMID:17641900, PMID:17825555, PMID:18414213, PMID:18711368, PMID:19459882, PMID:20803644, PMID:20952379, PMID:20956791, PMID:21368912, PMID:21468723, PMID:21609947, PMID:23177318, PMID:23307886, PMID:24033266, PMID:24886362, PMID:25326635, PMID:25741868, PMID:26701950, PMID:27430971, PMID:27570394, PMID:29410950, PMID:30311386 NCBI chr17:75,516,528...75,524,735
Ensembl chr17:75,516,060...75,524,735
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: Aminoglycoside-induced deafness ClinVar PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:10577941, PMID:16152638, PMID:17659260, PMID:20301595 NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
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:9039999, PMID:9111378, PMID:9164619, PMID:9391883, PMID:9490575, PMID:9779807, PMID:9831149, PMID:9887373, PMID:9915970, PMID:9950117, PMID:10521300, PMID:10577941, PMID:10633132, PMID:10788333, PMID:10915767, PMID:11079536, PMID:11174059, PMID:11313749, PMID:11388757, PMID:11857751, PMID:12031626, PMID:12372057, PMID:12624722, PMID:12655418, PMID:12920080, PMID:12939650, PMID:12955586, PMID:14681830, PMID:14699607, PMID:14755216, PMID:15466285, PMID:15555598, PMID:15637703, PMID:15708009, PMID:15841390, PMID:15917167, PMID:16152638, PMID:16168391, PMID:16375862, PMID:16380089, PMID:16458854, PMID:16528519, PMID:16631122, PMID:16650816, PMID:16782057, PMID:16826519, PMID:16875663, PMID:16955413, PMID:17085680, PMID:17341440, PMID:17434445, PMID:17637808, PMID:17698030, PMID:17698299, PMID:17999439, PMID:18261986, PMID:18636170, PMID:18790089, PMID:18820594, PMID:18830133, PMID:18983818, PMID:19196684, PMID:19196685, PMID:19376484, PMID:19475720, PMID:19682603, PMID:19818876, PMID:20100600, PMID:20111055, PMID:20172897, PMID:20301595, PMID:20353758, PMID:20416460, PMID:21047563, PMID:21162657, PMID:21205314, PMID:21329993, PMID:21495045, PMID:21504270, PMID:21725156, PMID:21777984, PMID:21811586, PMID:21828074, PMID:22223843, PMID:22475488, PMID:22735573, PMID:22992668, PMID:23525847, PMID:24033266, PMID:24651602, PMID:24703164, PMID:25155176, PMID:25515069, PMID:25741868, PMID:25744662, PMID:26822237, PMID:27397648, PMID:27427311, PMID:27654872, PMID:28049726, PMID:28520359 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: Aminoglycoside-induced deafness
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY
CTD
ClinVar
PMID:1322638, PMID:1634041, PMID:1732158, PMID:8060346, PMID:8240356, PMID:8680405, PMID:9742104, PMID:10577941, PMID:14681830, PMID:16152638, PMID:16380089, PMID:17085680, PMID:17434445, PMID:17659260, PMID:17698030, PMID:17698299, PMID:18830133, PMID:19682603, PMID:20100600, PMID:20301595, PMID:20416460, PMID:21047563, PMID:22992668, PMID:25515069, PMID:27397648, PMID:27654872, PMID:28520359 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of OMIM
ClinVar
PMID:8817331, PMID:28049726 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 ClinVar Annotator: match by term: Arts syndrome ClinVar
OMIM
PMID:8498830, PMID:17701896, PMID:22246954, PMID:24033266, PMID:24528855, PMID:25741868, PMID:28492532 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993
Ensembl chr  X:107,628,428...107,651,993
JBrowse link
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA1 homeobox A1 IAGP
EXP
DNA:mutations:cds:185delG,175-176insG,76C>T(human)
ClinVar Annotator: match by term: Bosley Salih Alorainy syndrome
ClinVar Annotator: match by term: Athabaskan Brainstem Dysgenesis Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis
ClinVar
CTD
OMIM
PMID:16155570, PMID:18412118, PMID:24239177, PMID:25741868, PMID:28492532, PMID:18412118 RGD:11553818 NCBI chr 7:27,092,993...27,096,000
Ensembl chr 7:27,093,313...27,095,996
Ensembl chr 7:27,093,313...27,095,996
JBrowse link
G HOXA2 homeobox A2 IAGP ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar NCBI chr 7:27,100,354...27,102,683
Ensembl chr 7:27,100,354...27,102,686
JBrowse link
G LOC113748384 Sharpr-MPRA regulatory region 2148 IAGP ClinVar Annotator: match by term: Bosley Salih Alorainy syndrome ClinVar NCBI chr 7:27,095,970...27,096,264 JBrowse link
Auditory Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-RNR1 mitochondrially encoded 12S rRNA IAGP ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:11079536, PMID:11313749, PMID:15466285, PMID:15555598, PMID:15637703, PMID:15841390, PMID:16528519, PMID:16875663, PMID:18636170, PMID:18830133, PMID:18983818, PMID:20100600, PMID:21205314, PMID:21495045, PMID:22735573, PMID:22992668, PMID:24033266, PMID:25515069, PMID:27654872 NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601
JBrowse link
AUDITORY NEUROPATHY AND OPTIC ATROPHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FDXR ferredoxin reductase IAGP ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:28965846 NCBI chr17:74,862,497...74,872,994
Ensembl chr17:74,862,497...74,873,031
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 ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant, 1 ClinVar
OMIM
PMID:20624953, PMID:25741868, PMID:28492532 NCBI chr13:59,665,583...60,163,928
Ensembl chr13:59,665,583...60,163,928
JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNMT1 DNA methyltransferase 1 IAGP ClinVar Annotator: match by term: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant ClinVar
OMIM
PMID:8747854, PMID:22328086, PMID:25741868 NCBI chr19:10,133,346...10,194,953
Ensembl chr19:10,133,345...10,231,286
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 ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant ClinVar
OMIM
PMID:24913193, PMID:28396750 NCBI chr 8:20,197,375...20,226,852
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 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: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
ClinVar
OMIM
PMID:11175790, PMID:15592686, PMID:22392858, PMID:25741868, PMID:30311386, PMID:11175790 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 MYH14 myosin heavy chain 14 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131, PMID:15845534, PMID:16222661, PMID:23967202, PMID:24033266, PMID:24082139, PMID:25741868, PMID:26284702, PMID:26346818, PMID:26467025, PMID:27393652, PMID:28492532, PMID:30311386, PMID:30828794 NCBI chr19:50,188,186...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
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: Keratitis, Ichthyosis, and Deafness (KID) Syndrome
p.G45E(mouse)
DNA:mutation:cd:p.D50N(human)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)
ClinVar
OMIM
PMID:1218943, PMID:1693158, PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10501520, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:11073548, PMID:11074495, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11386851, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12072059, PMID:12081719, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12384501, PMID:12417772, PMID:12457154, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12548749, PMID:12560944, PMID:12562518, PMID:12684873, PMID:12746422, PMID:12752120, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14520102, PMID:14691997, PMID:14694360, PMID:14700667, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15617546, PMID:15617550, PMID:15633193, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15769851, PMID:15855033, PMID:15954104, PMID:15964725, PMID:15967879, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16532460, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16885744, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17146396, PMID:17253936, PMID:17330861, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17428836, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18024254, PMID:18294064, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18843290, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20412116, PMID:20497192, PMID:20563649, PMID:20650534, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21056478, PMID:21094084, PMID:21112098, PMID:21122151, PMID:21162657, PMID:21198395, PMID:21292415, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22031297, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22429511, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22785241, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22995991, PMID:23141775, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23695287, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24785414, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26381000, PMID:26399936, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26553399, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27057829, PMID:27087580, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27623246, PMID:27761313, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28271504, PMID:28489599, PMID:28492532, PMID:29106882, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30989077, PMID:31160754, PMID:163800907, PMID:20926451, PMID:22031297, PMID:23924173, PMID:18950394, PMID:20307501 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 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...10,707,962
Ensembl chr 3:10,324,023...10,708,007
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 NCBI chr18:21,242,225...21,528,503
Ensembl chr18:21,242,242...21,525,417
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 PMID:31397523 NCBI chr 3:142,596,393...142,713,664
Ensembl chr 3:142,596,393...142,713,664
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 1
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
ClinVar
OMIM
PMID:9360932, PMID:22938506, PMID:23804846, PMID:24033266, PMID:25342930, PMID:25741868, PMID:26011067, PMID:26467025, PMID:26912466, PMID:27707755, PMID:27808407, PMID:27911912, PMID:28492532, PMID:28815995, PMID:30311386 NCBI chr 5:141,515,016...141,619,055
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 10
ClinVar Annotator: match by term: EYA4-Related Disorders
ClinVar
OMIM
PMID:11159937, PMID:15735644, PMID:17567890, PMID:17568404, PMID:23861362, PMID:23990876, PMID:24033266, PMID:25681523, PMID:25741868, PMID:25781927, PMID:28492532, PMID:28798025, PMID:30165862, PMID:30828794 NCBI chr 6:133,240,340...133,532,128
Ensembl chr 6:133,240,598...133,532,128
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 PMID:11159937, PMID:15735644, PMID:17567890, PMID:23861362, PMID:24033266, PMID:25741868, PMID:25781927, PMID:28492532 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 ClinVar Annotator: match by term: Deafness, autosomal dominant 11 ClinVar
OMIM
PMID:3130723, PMID:7870171, PMID:8776602, PMID:8900236, PMID:9171833, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10425080, PMID:10447383, PMID:10930322, PMID:12112664, PMID:15043528, PMID:15121790, PMID:15221449, PMID:15300860, PMID:15660226, PMID:16400615, PMID:16449806, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:17960123, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19299023, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20613545, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21738395, PMID:21873662, PMID:22135276, PMID:22681893, PMID:22785243, PMID:23226338, PMID:23237960, PMID:23383098, PMID:23451214, PMID:23451239, PMID:23770805, PMID:23804846, PMID:24033266, PMID:24105371, PMID:24199935, PMID:24498627, PMID:24618850, PMID:24831256, PMID:24875298, PMID:25262649, PMID:25333064, PMID:25468891, PMID:25558175, PMID:25741868, PMID:25788563, PMID:26226137, PMID:26309859, PMID:26338283, PMID:26467025, PMID:26791358, PMID:26969326, PMID:27068579, PMID:27344577, PMID:27460420, PMID:27610647, PMID:27729122, PMID:27766948, PMID:27911912, PMID:28041643, PMID:28492532, PMID:28802369, PMID:29490346, PMID:30245029, PMID:30311386, PMID:30718709 NCBI chr11:77,128,192...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 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 PMID:9150164, PMID:9590290, PMID:10196713, PMID:10987647, PMID:11333869, PMID:12021773, PMID:12162770, PMID:12746400, PMID:16718611, PMID:17431902, PMID:17661817, PMID:18022253, PMID:18575463, PMID:18797289, PMID:20947814, PMID:21520338, PMID:21917145, PMID:22718023, PMID:22980975, PMID:23967202, PMID:24033266, PMID:24586623, PMID:25262649, PMID:25741868, PMID:26467025, PMID:27068579, PMID:27627659, PMID:28000701, PMID:28492532, PMID:29196752, PMID:30311386, PMID:31163360 NCBI chr11:121,024,102...121,191,490 JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8
ClinVar
OMIM
PMID:9150164, PMID:9590290, PMID:10196713, PMID:10987647, PMID:11333869, PMID:12021773, PMID:12162770, PMID:12746400, PMID:16718611, PMID:17431902, PMID:17661817, PMID:18022253, PMID:18575463, PMID:18797289, PMID:20947814, PMID:21520338, PMID:21917145, PMID:22718023, PMID:22980975, PMID:23967202, PMID:24033266, PMID:24586623, PMID:25262649, PMID:25741868, PMID:26467025, PMID:27068579, PMID:27627659, PMID:28000701, PMID:28492532, PMID:29196752, PMID:30311386, PMID:31163360 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,173...121,191,493
JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRCA1 BRCA1 DNA repair associated IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 13 ClinVar PMID:1157798, PMID:11802208, PMID:12161611, PMID:15744030, PMID:15923272, PMID:16489001, PMID:17403394, PMID:18036263, PMID:19404736, PMID:20516115, PMID:21702907, PMID:22034289, PMID:22889855, PMID:23867111, PMID:24055113, PMID:25637381, PMID:25741868, PMID:26287763, PMID:26467025, PMID:26689913, PMID:27495310, PMID:28024868, PMID:28492532, PMID:28781887, PMID:30209399, PMID:30263132, PMID:30458859 NCBI chr17:43,044,295...43,125,364
Ensembl chr17:43,044,295...43,170,245
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 13 ClinVar
OMIM
PMID:10581026, PMID:15372529, PMID:24033266, PMID:25633957, PMID:25741868 NCBI chr 6:33,162,692...33,193,009
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 POU4F3 POU class 4 homeobox 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 15 ClinVar
OMIM
PMID:9506947, PMID:14585957, PMID:18228599, PMID:20434433, PMID:24033266, PMID:24260153, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29850532, PMID:30311386 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 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17
ClinVar Annotator: match by term: Deafness, autosomal dominant 17
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 17
OMIM
ClinVar
PMID:9390828, PMID:11023810, PMID:11590545, PMID:11752022, PMID:12533692, PMID:16969870, PMID:17146397, PMID:18059020, PMID:18676005, PMID:19557653, PMID:20588287, PMID:22123909, PMID:22477015, PMID:22995991, PMID:23144074, PMID:23349334, PMID:23409987, PMID:23804846, PMID:24033266, PMID:24130771, PMID:24186861, PMID:24643058, PMID:24890873, PMID:25077172, PMID:25505834, PMID:25741868, PMID:25752595, PMID:25949529, PMID:26226608, PMID:26346198, PMID:26467025, PMID:26969326, PMID:27068579, PMID:28059092, PMID:28492532, PMID:29090586, PMID:30311386, PMID:30720677, PMID:31064749 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 20 ClinVar
OMIM
PMID:5654493, PMID:12519370, PMID:13680526, PMID:14684684, PMID:16773128, PMID:19477959, PMID:22366783, PMID:24033266, PMID:25741868, PMID:25792668, PMID:26467025, PMID:28000701, PMID:28492532 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,971...81,523,847
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 22 ClinVar
OMIM
PMID:11167014, PMID:11468689, PMID:12687499, PMID:15123708, PMID:18212818, PMID:18348273, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532 NCBI chr 6:75,749,203...75,919,537
Ensembl chr 6:75,749,192...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 MIR9718 microRNA 9718 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 23 ClinVar NCBI chr14:60,648,648...60,648,711 JBrowse link
G SIX1 SIX homeobox 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 23 ClinVar
OMIM
PMID:10777717, PMID:12843324, PMID:15141091, PMID:16971658, PMID:19497856, PMID:21280147, PMID:21700001, PMID:24033266, PMID:25326635, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr14:60,643,421...60,649,489
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 25 ClinVar
OMIM
PMID:18674745, PMID:23967202, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 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
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 OMIM
ClinVar
PMID:29961578 NCBI chr 4:56,907,900...56,935,847
Ensembl chr 4:56,907,876...56,966,808
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 DNA:nonsense mutation:exon:
ClinVar Annotator: match by term: Deafness, autosomal dominant 28
OMIM
ClinVar
PMID:12393799, PMID:23813623, PMID:12393799 RGD:1599382 NCBI chr 8:101,492,439...101,678,104
Ensembl chr 8:101,492,439...101,669,726
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 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: DEAFNESS, AUTOSOMAL DOMINANT 2A
ClinVar
OMIM
PMID:8035838, PMID:9126484, PMID:10025409, PMID:10369879, PMID:10571947, PMID:10925378, PMID:11450843, PMID:12112653, PMID:15699719, PMID:16596322, PMID:18030493, PMID:18786918, PMID:20301388, PMID:20832469, PMID:20966080, PMID:21242547, PMID:21951272, PMID:22384008, PMID:22420747, PMID:23717403, PMID:23750663, PMID:24033266, PMID:25116015, PMID:25741868, PMID:26036578, PMID:30311386 NCBI chr 1:40,783,787...40,840,457
Ensembl chr 1:40,783,787...40,840,452
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 2b ClinVar
OMIM
PMID:9843210, PMID:16077902, PMID:21204020, PMID:23638949, PMID:24033266, PMID:28492532 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
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 ClinVar
OMIM
PMID:49161, PMID:11687797, PMID:12355493, PMID:14872505, PMID:17038455, PMID:17213252, PMID:17393462, PMID:20159265, PMID:22566169, PMID:23421920, PMID:24033266, PMID:24123366, PMID:24135410, PMID:25038238, PMID:25596455, PMID:25741868, PMID:26020059, PMID:26531310, PMID:27994174, PMID:28492532, PMID:28692792, PMID:28847925 NCBI chr 1:247,416,163...247,448,823
Ensembl chr 1:247,416,156...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 ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar
OMIM
PMID:11850618, PMID:15354000, PMID:16134132, PMID:17250663, PMID:18616530, PMID:19180119, PMID:19187973, PMID:21250555, PMID:22607986, PMID:24033266, PMID:24416283, PMID:24827932, PMID:25388789, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,291
Ensembl chr 9:72,521,608...72,838,291
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 OMIM
ClinVar
PMID:30245514 NCBI chr 1:102,876,473...103,108,580
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 3a ClinVar
OMIM
PMID:1218943, PMID:1511312, PMID:1693158, PMID:2104787, PMID:2706105, PMID:2956987, PMID:6409293, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:9856479, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10501520, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10704187, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:10983956, PMID:11032405, PMID:11073548, PMID:11074495, PMID:11102979, PMID:11134236, PMID:11216656, PMID:11298683, PMID:11313751, PMID:11313763, PMID:11354642, PMID:11386851, PMID:11438992, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11584050, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12064630, PMID:12072059, PMID:12081719, PMID:12111646, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12352684, PMID:12372058, PMID:12384501, PMID:12384781, PMID:12408072, PMID:12417772, PMID:12457154, PMID:12457340, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12522692, PMID:12560944, PMID:12562518, PMID:12666888, PMID:12668604, PMID:12673800, PMID:12684873, PMID:12700168, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12851846, PMID:12865758, PMID:12872268, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14505035, PMID:14520102, PMID:14643477, PMID:14676473, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15150777, PMID:15151513, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15464308, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15504600, PMID:15547422, PMID:15617546, PMID:15617550, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15744158, PMID:15790391, PMID:15832357, PMID:15855033, PMID:15937416, PMID:15954104, PMID:15964725, PMID:15967879, PMID:15996214, PMID:16059934, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16467727, PMID:16532460, PMID:16545002, PMID:16645853, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16931589, PMID:16945493, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17366579, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17462767, PMID:17485979, PMID:17505205, PMID:17553572, PMID:17567887, PMID:17581693, PMID:17660464, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18353197, PMID:18414213, PMID:18472371, PMID:18560174, PMID:18570691, PMID:18607988, PMID:18668259, PMID:18684989, PMID:18688874, PMID:18776652, PMID:18793701, PMID:18804553, PMID:18924167, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19050930, PMID:19072567, PMID:19081147, PMID:19101659, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19230829, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19384972, PMID:19465004, PMID:19567088, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19719946, PMID:19723508, PMID:19775242, PMID:19814620, PMID:19877196, PMID:19887791, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20095872, PMID:20096356, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20233142, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20407643, PMID:20442751, PMID:20497192, PMID:20563649, PMID:20593197, PMID:20607074, PMID:20650534, PMID:20668687, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20854437, PMID:20863150, PMID:20890442, PMID:20937258, PMID:20956747, PMID:20981092, PMID:21040787, PMID:21056478, PMID:21094084, PMID:21094651, PMID:21112098, PMID:21122151, PMID:21131880, PMID:21162657, PMID:21198395, PMID:21281533, PMID:21287563, PMID:21298213, PMID:21366436, PMID:21392827, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21510145, PMID:21728791, PMID:21776002, PMID:21777984, PMID:21811586, PMID:21815880, PMID:21836520, PMID:21868108, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22103400, PMID:22106692, PMID:22281373, PMID:22384008, PMID:22389666, PMID:22429511, PMID:22450542, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22567861, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22747691, PMID:22785241, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22925408, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22991996, PMID:22995991, PMID:23073770, PMID:23141775, PMID:23266159, PMID:23451214, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23665763, PMID:23668481, PMID:23680645, PMID:23684175, PMID:23695287, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24013081, PMID:24033266, PMID:24039984, PMID:24078562, PMID:24123366, PMID:24158611, PMID:24256046, PMID:24341454, PMID:24346070, PMID:24372583, PMID:24387126, PMID:24529908, PMID:24596593, PMID:24611097, PMID:24612839, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24706568, PMID:24737404, PMID:24774219, PMID:24785414, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25149764, PMID:25162826, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25401782, PMID:25447126, PMID:25493717, PMID:25555641, PMID:25625422, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25808784, PMID:25937001, PMID:25999548, PMID:26004784, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26178431, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26346709, PMID:26361564, PMID:26381000, PMID:26397989, PMID:26399936, PMID:26409293, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26553399, PMID:26681637, PMID:26749107, PMID:26763877, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:26990548, PMID:27018795, PMID:27045574, PMID:27057829, PMID:27063752, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27247933, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27534436, PMID:27610647, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843123, PMID:27843504, PMID:27884173, PMID:27884957, PMID:28000701, PMID:28008688, PMID:28222800, PMID:28271504, PMID:28489599, PMID:28492532, PMID:28583500, PMID:28651654, PMID:28704896, PMID:28900111, PMID:29062245, PMID:29106882, PMID:29140768, PMID:29148562, PMID:29196752, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30168495, PMID:30245029, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30466042, PMID:30989077, PMID:31160754, PMID:31370293, PMID:31569309, PMID:31620696, PMID:31992338, PMID:163800907 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB6 gap junction protein beta 6 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar
OMIM
PMID:10471490, PMID:16547895, PMID:16950989, PMID:17259707, PMID:20858605, PMID:25262649, PMID:25741868, PMID:28492532, PMID:28501645 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
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 ClinVar
OMIM
PMID:12471561, PMID:24033266, PMID:25741868 NCBI chr16:21,258,521...21,303,062
Ensembl chr16:21,238,874...21,303,083
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 41 ClinVar
OMIM
PMID:12161595, PMID:23345450, PMID:24211385 NCBI chr12:132,618,776...132,623,736
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 DNA:duplication:cds:c.1394_1401dupCACGGCAT(human)
ClinVar Annotator: match by term: Deafness, autosomal dominant 44
OMIM
ClinVar
PMID:17503326, PMID:17503326 RGD:9685138 NCBI chr 3:191,329,082...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 MYO1A myosin IA IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar
OMIM
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 MYH14 myosin heavy chain 14 IAGP OMIM NCBI chr19:50,188,186...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:28492532 NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 5 ClinVar
OMIM
PMID:9771715, PMID:14559215, PMID:14676472, PMID:17868390, PMID:19911014, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:24,698,355...24,762,235
Ensembl chr 7:24,698,355...24,757,940
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 TJP2 tight junction protein 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar
OMIM
PMID:20602916 NCBI chr 9:69,121,006...69,255,208
Ensembl chr 9:69,121,264...69,274,615
JBrowse link
autosomal dominant nonsyndromic deafness 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU4F3 POU class 4 homeobox 3 IAGP OMIM NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728
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 PAPPA pappalysin 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106, PMID:23936043 NCBI chr 9:116,153,752...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
OMIM
PMID:21681106, PMID:23936043, PMID:25741868, PMID:26467025, PMID:30311386 NCBI chr 9:115,019,575...115,118,244
Ensembl chr 9:115,019,575...115,118,257
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...114,930,674
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 WFS1 wolframin ER transmembrane glycoprotein 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 6
ClinVar
OMIM
PMID:8595423, PMID:9817917, PMID:10521293, PMID:10624825, PMID:10679252, PMID:10760554, PMID:11161832, PMID:11244483, PMID:11317350, PMID:11694551, PMID:11709537, PMID:11709538, PMID:11916957, PMID:11920861, PMID:12073007, PMID:12107816, PMID:12181639, PMID:12490066, PMID:12565131, PMID:12782971, PMID:12955714, PMID:15008830, PMID:15234338, PMID:15277431, PMID:15473915, PMID:15605410, PMID:15852062, PMID:16408729, PMID:16648378, PMID:17492394, PMID:17517145, PMID:17603484, PMID:18414213, PMID:18544103, PMID:18688868, PMID:18806274, PMID:19292454, PMID:20738327, PMID:20875904, PMID:21446023, PMID:21917145, PMID:22938506, PMID:23429432, PMID:23535966, PMID:23595122, PMID:23856252, PMID:23990876, PMID:24033266, PMID:24875298, PMID:24909696, PMID:25133958, PMID:25262649, PMID:25388789, PMID:25741868, PMID:25895475, PMID:26467025, PMID:27185633, PMID:27617222, PMID:28432734, PMID:28492532 NCBI chr 4:6,260,368...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 DIABLO diablo IAP-binding mitochondrial protein IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 64 ClinVar
OMIM
PMID:21722859 NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,663...122,227,456
Ensembl chr12:122,207,663...122,227,456
JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 65 ClinVar
OMIM
PMID:24033266, PMID:24291220, PMID:24387994, PMID:24469796, PMID:24729539, PMID:24729547, PMID:25169651, PMID:25741868, PMID:25769375, PMID:26207815, PMID:26371875, PMID:27281533, PMID:27502353, PMID:27541164, PMID:28292732, PMID:28428906, PMID:28492532, PMID:28663785, PMID:29100083, PMID:30311386 NCBI chr16:2,475,104...2,509,669
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: Deafness, autosomal dominant 66 ClinVar
OMIM
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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 67 OMIM
ClinVar
PMID:25759012 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:25816005, PMID:30047143 NCBI chr15:82,836,946...82,986,176
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, congenital, unilateral or asymmetric ClinVar
OMIM
PMID:26522471 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 ClinVar Annotator: match by term: Deafness, autosomal dominant 7 OMIM
ClinVar
PMID:29754270 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:29754270 NCBI chr 1:165,204,047...165,213,091 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 NCBI chr 3:127,598,411...127,622,436
Ensembl chr 3:127,598,410...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 ClinVar
OMIM
PMID:25741868, PMID:27657680 NCBI chr15:51,447,788...51,622,833
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:28013291 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
OMIM
PMID:25741868, PMID:29309402 NCBI chr12:80,424,261...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: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: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
OMIM
PMID:25741868, 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 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 77 OMIM
ClinVar
PMID:31273342 NCBI chr16:15,949,616...16,143,062
Ensembl chr16:15,949,577...16,143,074
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, PMID:12928864, PMID:14512963, PMID:16151338, PMID:16261627, PMID:16481359, PMID:18312449, PMID:19161137, PMID:22534022, PMID:24033266, PMID:24662630, PMID:25230692, PMID:25741868, PMID:25780252, PMID:28492532, PMID:28733840 NCBI 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 dominant 9 ClinVar
OMIM
PMID:8817345, PMID:9806553, PMID:9931344, PMID:10400989, PMID:11332404, PMID:12928864, PMID:14512963, PMID:16151338, PMID:16261627, PMID:16481359, PMID:18312449, PMID:19161137, PMID:22534022, PMID:24033266, PMID:24662630, PMID:25230692, PMID:25741868, PMID:25780252, PMID:28492532, PMID:28733840 NCBI chr14:30,874,496...30,890,618
Ensembl chr14:30,874,514...30,895,065
JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein IAGP 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
OMIM
PMID:10679252, PMID:11295831, PMID:12022290, PMID:15605410, PMID:16648378, PMID:17492394, PMID:18544103, PMID:19877185, PMID:20069065, PMID:20875904, PMID:21067485, PMID:21143470, PMID:21538838, PMID:21917145, PMID:22238590, PMID:24033266, PMID:24890733, PMID:25133958, PMID:25388789, PMID:25741868, PMID:26435059, PMID:26467025, PMID:26875006, PMID:27395765, PMID:28432734, PMID:28468959, PMID:28492532, PMID:29529044 NCBI chr 4:6,260,368...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 ANKRD36 ankyrin repeat domain 36 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 2:97,113,153...97,264,521
Ensembl chr 2:97,113,218...97,264,434
Ensembl chr 2:97,113,218...97,264,434
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 CDH23 cadherin related 23 IAGP DNA:missense mutations:multiple RGD PMID:17850630 RGD:8662281 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CLIC5 chloride intracellular channel 5 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 6:45,898,451...46,129,819
Ensembl chr 6:45,880,827...46,080,348
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 GPSM2 G protein signaling modulator 2 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20602914, PMID:22578326 NCBI chr 1:108,875,350...108,934,545
Ensembl chr 1:108,875,350...108,934,545
JBrowse link
G LOXHD1 lipoxygenase homology domains 1 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19732867, PMID:21465660, PMID:25741868, PMID:25792669, PMID:28000701, PMID:28492532 NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220
JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,277...36,388,067
Ensembl chr22:36,281,277...36,388,067
JBrowse link
G OTOF otoferlin ISO
IAGP
DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:27082237, PMID:17967520 RGD:9479154 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,698
Ensembl chr 2:26,457,203...26,558,698
JBrowse link
G RYR1 ryanodine receptor 1 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868, PMID:25960145, PMID:28492532 NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,587,564
JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809
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:29590114 NCBI chr 5:103,120,273...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 NCBI chr 5:145,858,521...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 epidermal growth factor receptor pathway substrate 8 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 102 ClinVar
OMIM
PMID:24033266, PMID:24741995, PMID:25741868 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 6:45,898,451...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 RIPOR2 RHO family interacting cell polarization regulator 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar
OMIM
PMID:24958875 NCBI chr 6:24,804,284...25,042,288
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 epidermal growth factor receptor pathway substrate 8 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 ClinVar PMID:28492532 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329
JBrowse link
G EPS8L2 EPS8 like 2 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 ClinVar
OMIM
PMID:26282398, PMID:28281779 NCBI chr11:706,202...727,727
Ensembl chr11:694,438...727,727
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 ClinVar
OMIM
PMID:26881968 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:27162350 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 8:94,640,999...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:25741868, PMID:29449721 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:25741868, PMID:29449721 NCBI chr14:30,874,496...30,890,618
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
OMIM
PMID:28492532, PMID:29961571, PMID:29982980 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 ClinVar
OMIM
PMID:24312468 NCBI chr 5:71,455,636...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:29703829 NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718
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...19,046,957
Ensembl chr17:19,020,656...19,047,011
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 sphingolipid transporter 2 IAGP OMIM NCBI chr17:4,498,881...4,539,035
Ensembl chr17:4,498,881...4,539,035
JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of OMIM
ClinVar
PMID:15829536, PMID:27535533, PMID:28492532 NCBI chr 3:10,324,023...10,707,962
Ensembl chr 3:10,324,023...10,708,007
JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009, PMID:12075507, PMID:12522556, PMID:15537665, PMID:15660226, PMID:17850630, PMID:18273900, PMID:18429043, PMID:20146813, PMID:21228398, PMID:21569298, PMID:21940737, PMID:22135276, PMID:22899989, PMID:24033266, PMID:24875298, PMID:25468891, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824
JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar
OMIM
PMID:2289998, PMID:2706105, PMID:11090341, PMID:11138009, PMID:11857743, PMID:12075507, PMID:12522556, PMID:12910270, PMID:15353998, PMID:15537665, PMID:15660226, PMID:15829536, PMID:16679490, PMID:16963483, PMID:17407589, PMID:17850630, PMID:18273900, PMID:18323324, PMID:18348277, PMID:18429043, PMID:19375528, PMID:19683999, PMID:19888295, PMID:20146813, PMID:20513143, PMID:20613545, PMID:20844544, PMID:21228398, PMID:21436283, PMID:21569298, PMID:21738395, PMID:21917145, PMID:21940737, PMID:22135276, PMID:22443853, PMID:22607986, PMID:22899989, PMID:22995991, PMID:23591405, PMID:23757202, PMID:23804846, PMID:23967202, PMID:24006325, PMID:24033266, PMID:24416283, PMID:24498627, PMID:24618850, PMID:24767429, PMID:24875298, PMID:25262649, PMID:25279224, PMID:25333064, PMID:25356970, PMID:25373420, PMID:25404053, PMID:25468891, PMID:25472526, PMID:25474345, PMID:25587757, PMID:25741868, PMID:25788563, PMID:25963016, PMID:26264712, PMID:26346818, PMID:26467025, PMID:26633542, PMID:26763877, PMID:26969326, PMID:27068579, PMID:27460420, PMID:27583405, PMID:27743452, PMID:27792758, PMID:27884173, PMID:28492532, PMID:28912962, PMID:30029624, PMID:30123251, PMID:30245029, PMID:30311386, PMID:30718709 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947
JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:24033266, PMID:24416283, PMID:25741868, PMID:28492532, PMID:30718709 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873
JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938
JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:19888295, PMID:21917145, PMID:24006325, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:71,805,832...71,806,126 JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,325
JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GIPC3 GIPC PDZ domain containing family member 3 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal recessive 15
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9286457, PMID:17690910, PMID:21326233, PMID:21660509, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr19:3,585,478...3,593,541
Ensembl chr19:3,585,478...3,593,541
JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATSPER2 cation channel sperm associated 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802, PMID:21681106, PMID:25741868, PMID:26011646 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118
JBrowse link
G CKMT1A creatine kinase, mitochondrial 1A IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:43,692,644...43,699,222
Ensembl chr15:43,692,886...43,699,222
JBrowse link
G CKMT1B creatine kinase, mitochondrial 1B IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:43,592,857...43,599,406
Ensembl chr15:43,593,054...43,604,901
JBrowse link
G STRC stereocilin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar
OMIM
PMID:11687802, PMID:18414213, PMID:21078986, PMID:21681106, PMID:22147502, PMID:24033266, PMID:24963352, PMID:25157971, PMID:25741868, PMID:26011646, PMID:26467025, PMID:26746617, PMID:31552524 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12136232, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:16679490, PMID:16963483, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:20142502, PMID:20301442, PMID:20671281, PMID:21203349, PMID:21436283, PMID:21487335, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:24416283, PMID:24875298, PMID:25356976, PMID:25468891, PMID:25525159, PMID:25560255, PMID:25741868, PMID:26969326, PMID:27743452, PMID:28041643, PMID:28492532, PMID:30096381, PMID:30718709 NCBI chr11:17,493,895...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO
IAGP
ClinVar Annotator: match by term: Deafness, autosomal recessive 18A ClinVar
OMIM
PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, PMID:12107438, PMID:12630964, PMID:12702164, PMID:15578223, PMID:15660226, PMID:17174357, PMID:17407589, PMID:18665195, PMID:20095043, PMID:21436283, PMID:21569298, PMID:22135276, PMID:23380860, PMID:24033266, PMID:25741868, PMID:26969326, PMID:28041643, PMID:28492532, PMID:30718709, PMID:14519688 RGD:8694458 NCBI chr11:17,493,895...17,544,416
Ensembl chr11:17,493,895...17,544,416
JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOG otogelin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 18b ClinVar
OMIM
PMID:10655058, PMID:23122587, PMID:24033266, PMID:25741868, PMID:28050010, PMID:28492532, PMID:29196752, PMID:29907799 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,373...17,647,150
JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYL1 crystallin lambda 1 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar PMID:15994881, PMID:17041943, PMID:18324688, PMID:20236118, PMID:28492532 NCBI 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 recessive 1A 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 recessive 1A ClinVar PMID:28492532 NCBI chr13:20,138,252...20,161,327
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 recessive 1A
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3
ClinVar
OMIM
PMID:1218943, PMID:1511312, PMID:1693158, PMID:2104787, PMID:2706105, PMID:2956987, PMID:6409293, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:9838096, PMID:9856479, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10353784, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10501520, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10704187, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10905664, PMID:10980526, PMID:10982180, PMID:10982182, PMID:10983956, PMID:11032405, PMID:11073548, PMID:11074495, PMID:11102979, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11385713, PMID:11386851, PMID:11438992, PMID:11439000, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11584050, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11788148, PMID:11807148, PMID:11896458, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:11977173, PMID:12064630, PMID:12072059, PMID:12081719, PMID:12111646, PMID:12112666, PMID:12121355, PMID:12167443, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12325027, PMID:12352684, PMID:12372058, PMID:12384501, PMID:12384781, PMID:12408072, PMID:12417772, PMID:12457154, PMID:12457340, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12522692, PMID:12560944, PMID:12562518, PMID:12666888, PMID:12673800, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12851846, PMID:12865758, PMID:12872268, PMID:12885339, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14505035, PMID:14520102, PMID:14571368, PMID:14643477, PMID:14676473, PMID:14681040, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14735592, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15146674, PMID:15150777, PMID:15151513, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15464308, PMID:15479191, PMID:15482471, PMID:15488970, PMID:15504600, PMID:15547422, PMID:15547423, PMID:15577772, PMID:15592461, PMID:15603707, PMID:15617546, PMID:15617550, PMID:15633193, PMID:15638823, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15744158, PMID:15790391, PMID:15832357, PMID:15841999, PMID:15855033, PMID:15937416, PMID:15954104, PMID:15964725, PMID:15967879, PMID:15994881, PMID:15996214, PMID:16059934, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16154643, PMID:16217030, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16467727, PMID:16532460, PMID:16545002, PMID:16645853, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16885744, PMID:16931589, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17077310, PMID:17146393, PMID:17146396, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17366579, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17428836, PMID:17431919, PMID:17444514, PMID:17485979, PMID:17505205, PMID:17553572, PMID:17567887, PMID:17567889, PMID:17581693, PMID:17660464, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18024254, PMID:18196482, PMID:18294064, PMID:18316665, PMID:18324688, PMID:18353197, PMID:18414213, PMID:18472371, PMID:18519481, PMID:18560174, PMID:18570691, PMID:18580690, PMID:18607988, PMID:18649181, PMID:18668259, PMID:18684989, PMID:18688874, PMID:18758381, PMID:18776652, PMID:18804553, PMID:18837651, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:18990456, PMID:19027181, PMID:19043807, PMID:19050930, PMID:19072567, PMID:19081147, PMID:19101659, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19230829, PMID:19235794, PMID:19283857, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19384972, PMID:19390476, PMID:19465004, PMID:19567088, PMID:19586875, PMID:19587431, PMID:19707039, PMID:19715472, PMID:19719946, PMID:19723508, PMID:19775242, PMID:19814620, PMID:19877196, PMID:19887791, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20059378, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20086306, PMID:20095872, PMID:20096356, PMID:20096468, PMID:20146813, PMID:20154630, PMID:20201936, PMID:20233142, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20381175, PMID:20407643, PMID:20412116, PMID:20441744, PMID:20497192, PMID:20542681, PMID:20553101, PMID:20563649, PMID:20593197, PMID:20607074, PMID:20639189, PMID:20650534, PMID:20668687, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20863150, PMID:20956747, PMID:20981092, PMID:21040787, PMID:21056478, PMID:21094084, PMID:21094651, PMID:21112098, PMID:21122151, PMID:21131880, PMID:21162657, PMID:21198395, PMID:21281533, PMID:21287563, PMID:21292415, PMID:21298213, PMID:21298644, PMID:21366436, PMID:21388256, PMID:21392827, PMID:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21557232, PMID:21728791, PMID:21738759, PMID:21776002, PMID:21777984, PMID:21811586, PMID:21815880, PMID:21836520, PMID:21844220, PMID:21910243, PMID:21912263, PMID:21962949, PMID:22000900, PMID:22011219, PMID:22016077, PMID:22031297, PMID:22037723, PMID:22103400, PMID:22106692, PMID:22208444, PMID:22281373, PMID:22384008, PMID:22389666, PMID:22429511, PMID:22450542, PMID:22498363, PMID:22567152, PMID:22567369, PMID:22567861, PMID:22574200, PMID:22592158, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22701767, PMID:22747691, PMID:22785241, PMID:22787277, PMID:22796187, PMID:22808909, PMID:22855627, PMID:22925408, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22991996, PMID:22995991, PMID:23039283, PMID:23073770, PMID:23120683, PMID:23141775, PMID:23266159, PMID:23418865, PMID:23451214, PMID:23477838, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23665763, PMID:23668481, PMID:23680645, PMID:23684175, PMID:23695287, PMID:23751281, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23900770, PMID:23967136, PMID:24013081, PMID:24033266, PMID:24039984, PMID:24078562, PMID:24123366, PMID:24156272, PMID:24158611, PMID:24224790, PMID:24256046, PMID:24341454, PMID:24346070, PMID:24372583, PMID:24503448, PMID:24507663, PMID:24529908, PMID:24551843, PMID:24596593, PMID:24611097, PMID:24612839, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24706568, PMID:24737404, PMID:24774219, PMID:24785414, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25085072, PMID:25085637, PMID:25087612, PMID:25149764, PMID:25162826, PMID:25188385, PMID:25189242, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25270357, PMID:25288386, PMID:25326637, PMID:25365227, PMID:25388846, PMID:25401782, PMID:25447126, PMID:25493717, PMID:25555641, PMID:25560255, PMID:25587757, PMID:25625422, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25788563, PMID:25808784, PMID:25891447, PMID:25937001, PMID:25999548, PMID:26004784, PMID:26043044, PMID:26046157, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26095810, PMID:26096904, PMID:26117665, PMID:26119842, PMID:26178431, PMID:26186295, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26346709, PMID:26361564, PMID:26381000, PMID:26397989, PMID:26399936, PMID:26409293, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26540915, PMID:26542351, PMID:26553399, PMID:26561413, PMID:26681637, PMID:26749107, PMID:26763877, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:26990548, PMID:27018795, PMID:27045574, PMID:27057829, PMID:27063752, PMID:27067584, PMID:27087580, PMID:27153395, PMID:27169813, PMID:27177978, PMID:27224056, PMID:27247933, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27518711, PMID:27534436, PMID:27610647, PMID:27623246, PMID:27627659, PMID:27761313, PMID:27785406, PMID:27792752, PMID:27843123, PMID:27843504, PMID:27884173, PMID:27884957, PMID:28000701, PMID:28008688, PMID:28222800, PMID:28271504, PMID:28405014, PMID:28428247, PMID:28489599, PMID:28492532, PMID:28583500, PMID:28651654, PMID:28704896, PMID:28900111, PMID:29062245, PMID:29106882, PMID:29148562, PMID:29196752, PMID:29311818, PMID:29362677, PMID:29501291, PMID:29542069, PMID:29605365, PMID:29773520, PMID:29921236, PMID:30094485, PMID:30146550, PMID:30168495, PMID:30245029, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30466042, PMID:30989077, PMID:31160754, PMID:31162818, PMID:31195736, PMID:31370293, PMID:31569309, PMID:31620696, PMID:31992338, PMID:95239365, PMID:163800907 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, digenic, GJB2/GJB3
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar
OMIM
PMID:19050930, PMID:25741868, PMID:28492532 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369
JBrowse link
G GJB4 gap junction protein beta 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707, PMID:25333454, PMID:25741868 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327
JBrowse link
G GJB6 gap junction protein beta 6 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar
OMIM
PMID:10610709, PMID:11017065, PMID:11807148, PMID:12172394, PMID:12419304, PMID:12788524, PMID:12885339, PMID:14571368, PMID:14708603, PMID:15213106, PMID:15638823, PMID:15769851, PMID:15994881, PMID:16547895, PMID:16950989, PMID:17041943, PMID:17666888, PMID:18324688, PMID:20536673, PMID:23219093, PMID:23863883, PMID:23926005, PMID:23981984, PMID:24033266, PMID:24514865, PMID:24522190, PMID:24685692, PMID:25262649, PMID:25741868, PMID:26551294, PMID:27137747, PMID:27817781, PMID:28492532, PMID:28501645, PMID:29771057 NCBI 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 recessive 1A ClinVar PMID:28492532 NCBI chr13:20,566,446...20,691,444
Ensembl chr13:20,567,069...20,691,437
JBrowse link
G IL17D interleukin 17D IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,701,513...20,723,100
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 recessive 1A ClinVar PMID:28492532 NCBI chr13:20,506,870...20,507,164 JBrowse link
G MIR4499 microRNA 4499 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar PMID:15994881, PMID:17041943, PMID:18324688, PMID:20236118, PMID:28492532 NCBI 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 recessive 1A ClinVar PMID:28492532 NCBI chr13:20,777,329...20,902,774
Ensembl chr13:20,777,329...20,903,048
JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9422505, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869, PMID:10376574, PMID:10422812, PMID:10477435, PMID:10501520, PMID:10508996, PMID:10544226, PMID:10556284, PMID:10596881, PMID:10607953, PMID:10633133, PMID:10633135, PMID:10713883, PMID:10751669, PMID:10757647, PMID:10782932, PMID:10807696, PMID:10830906, PMID:10874298, PMID:10903123, PMID:10980526, PMID:10982180, PMID:10982182, PMID:10983956, PMID:11074495, PMID:11102979, PMID:11134236, PMID:11216656, PMID:11313751, PMID:11313763, PMID:11385713, PMID:11386851, PMID:11438992, PMID:11483639, PMID:11493200, PMID:11494963, PMID:11551103, PMID:11556849, PMID:11587277, PMID:11668644, PMID:11698809, PMID:11746015, PMID:11807148, PMID:11912510, PMID:11918723, PMID:11935342, PMID:11968091, PMID:12064630, PMID:12072059, PMID:12081719, PMID:12111646, PMID:12112666, PMID:12121355, PMID:12172392, PMID:12172394, PMID:12176036, PMID:12176179, PMID:12189487, PMID:12189493, PMID:12239718, PMID:12352684, PMID:12384501, PMID:12384781, PMID:12497637, PMID:12505163, PMID:12522556, PMID:12522692, PMID:12560944, PMID:12684873, PMID:12746422, PMID:12786758, PMID:12786762, PMID:12791041, PMID:12792423, PMID:12833397, PMID:12865758, PMID:12885339, PMID:12910486, PMID:12925341, PMID:14070830, PMID:14505035, PMID:14520102, PMID:14571368, PMID:14691997, PMID:14694360, PMID:14722929, PMID:14738110, PMID:14985372, PMID:14986832, PMID:15033936, PMID:15040442, PMID:15070423, PMID:15113126, PMID:15146474, PMID:15219044, PMID:15235031, PMID:15241677, PMID:15253766, PMID:15359540, PMID:15365987, PMID:15464305, PMID:15479191, PMID:15482471, PMID:15617550, PMID:15638823, PMID:15656949, PMID:15666300, PMID:15700112, PMID:15855033, PMID:15937416, PMID:15954104, PMID:15964725, PMID:15967879, PMID:15994881, PMID:16076412, PMID:16077952, PMID:16088916, PMID:16125251, PMID:16222667, PMID:16300957, PMID:16336662, PMID:16379178, PMID:16379542, PMID:16380907, PMID:16467727, PMID:16532460, PMID:16545002, PMID:16650079, PMID:16712961, PMID:16773579, PMID:16840571, PMID:16849369, PMID:16864573, PMID:16868655, PMID:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17505205, PMID:17553572, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, PMID:18324688, PMID:18414213, PMID:18560174, PMID:18570691, PMID:18684989, PMID:18776652, PMID:18804553, PMID:18925674, PMID:18941476, PMID:18983339, PMID:18985073, PMID:18987669, PMID:18988928, PMID:19027181, PMID:19043807, PMID:19050930, PMID:19125024, PMID:19157576, PMID:19173109, PMID:19235794, PMID:19366456, PMID:19371219, PMID:19375528, PMID:19465004, PMID:19586875, PMID:19707039, PMID:19715472, PMID:19723508, PMID:19814620, PMID:19925344, PMID:19929407, PMID:19929408, PMID:19941053, PMID:20022641, PMID:20073550, PMID:20083784, PMID:20086291, PMID:20095872, PMID:20096468, PMID:20154630, PMID:20201936, PMID:20234132, PMID:20236118, PMID:20301449, PMID:20497192, PMID:20563649, PMID:20708129, PMID:20739944, PMID:20815033, PMID:20981092, PMID:21056478, PMID:21094084, PMID:21122151, PMID:21162657, PMID:21465647, PMID:21468573, PMID:21488715, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:22000900, PMID:22011219, PMID:22037723, PMID:22106692, PMID:22281373, PMID:22567152, PMID:22567369, PMID:22574200, PMID:22613756, PMID:22643125, PMID:22668073, PMID:22695344, PMID:22747691, PMID:22785241, PMID:22796187, PMID:22855627, PMID:22937313, PMID:22975760, PMID:22981120, PMID:22991996, PMID:22995991, PMID:23141775, PMID:23489192, PMID:23503914, PMID:23504403, PMID:23554706, PMID:23555729, PMID:23637863, PMID:23638949, PMID:23668481, PMID:23680645, PMID:23757202, PMID:23804846, PMID:23808595, PMID:23826813, PMID:23856378, PMID:23873582, PMID:23967136, PMID:24013081, PMID:24033266, PMID:24123366, PMID:24158611, PMID:24341454, PMID:24346070, PMID:24529908, PMID:24611097, PMID:24624091, PMID:24645897, PMID:24654934, PMID:24737404, PMID:24793888, PMID:24814571, PMID:24840842, PMID:24945352, PMID:24949729, PMID:24959830, PMID:25012701, PMID:25087612, PMID:25214170, PMID:25262649, PMID:25266519, PMID:25288386, PMID:25326637, PMID:25388846, PMID:25555641, PMID:25636251, PMID:25637381, PMID:25708704, PMID:25741868, PMID:25937001, PMID:25999548, PMID:26043044, PMID:26059209, PMID:26061099, PMID:26061264, PMID:26088551, PMID:26096904, PMID:26117665, PMID:26119842, PMID:26188157, PMID:26236732, PMID:26252218, PMID:26330914, PMID:26444186, PMID:26467025, PMID:26482070, PMID:26681637, PMID:26778469, PMID:26832775, PMID:26885124, PMID:26896187, PMID:26940866, PMID:26969326, PMID:27045574, PMID:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27610647, PMID:27623246, PMID:27785406, PMID:27792752, PMID:27843504, PMID:27884957, PMID:28000701, PMID:28489599, PMID:28492532, PMID:29362677, PMID:29501291, PMID:29921236, PMID:30094485, PMID:30303587, PMID:30311386, PMID:30344259, PMID:30989077, PMID:31160754, PMID:163800907 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 ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar
OMIM
PMID:11807148, PMID:12172394, PMID:12885339, PMID:14571368, PMID:15638823, PMID:15994881, PMID:16547895, PMID:16950989, PMID:17041943, PMID:18324688, PMID:22106692, PMID:25262649, PMID:25741868, PMID:28492532, PMID:28501645 NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365
JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 2
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
ClinVar
OMIM
PMID:3130723, PMID:7568224, PMID:7870171, PMID:7951250, PMID:8776602, PMID:8900236, PMID:9002678, PMID:9171832, PMID:9171833, PMID:9259201, PMID:9354784, PMID:9382091, PMID:9718356, PMID:10094549, PMID:10425080, PMID:10447383, PMID:10930322, PMID:11391666, PMID:12112664, PMID:15028842, PMID:15043528, PMID:15121790, PMID:15221449, PMID:15606003, PMID:15660226, PMID:15823922, PMID:16283880, PMID:16400615, PMID:16470552, PMID:16652077, PMID:16679490, PMID:16963483, PMID:17361009, PMID:17960123, PMID:18181211, PMID:18323324, PMID:18463160, PMID:18484607, PMID:18700726, PMID:19074810, PMID:19156839, PMID:19299023, PMID:19375528, PMID:19683999, PMID:20052763, PMID:20132242, PMID:20146813, PMID:20497194, PMID:20513143, PMID:20613545, PMID:20844544, PMID:21117948, PMID:21150918, PMID:21174530, PMID:21311020, PMID:21436283, PMID:21487335, PMID:21569298, PMID:21602428, PMID:21738395, PMID:21873662, PMID:21901789, PMID:22135276, PMID:22334370, PMID:22681893, PMID:22690115, PMID:22785243, PMID:22898263, PMID:22903915, PMID:23148716, PMID:23208854, PMID:23226338, PMID:23237960, PMID:23451214, PMID:23451239, PMID:23559863, PMID:23591405, PMID:23770805, PMID:23804846, PMID:23882135, PMID:23967202, PMID:24033266, PMID:24105371, PMID:24164807, PMID:24194196, PMID:24199935, PMID:24498627, PMID:24618850, PMID:24831256, PMID:24853665, PMID:24875298, PMID:24997346, PMID:25080338, PMID:25133751, PMID:25262649, PMID:25333064, PMID:25373420, PMID:25404053, PMID:25468891, PMID:25472526, PMID:25525159, PMID:25558175, PMID:25575603, PMID:25741868, PMID:25788563, PMID:26011067, PMID:26164827, PMID:26226137, PMID:26309859, PMID:26338283, PMID:26346818, PMID:26445815, PMID:26467025, PMID:26486028, PMID:26561413, PMID:26633542, PMID:26791358, PMID:26872967, PMID:26969326, PMID:27068579, PMID:27160483, PMID:27208204, PMID:27344577, PMID:27460420, PMID:27573290, PMID:27583663, PMID:27610647, PMID:27729122, PMID:27743452, PMID:27766948, PMID:27911912, PMID:27957503, PMID:28000701, PMID:28008688, PMID:28041643, PMID:28281779, PMID:28439001, PMID:28451532, PMID:28472130, PMID:28492532, PMID:28559085, PMID:28944237, PMID:28968992, PMID:29142287, PMID:29178603, PMID:29196752, PMID:29416772, PMID:29490346, PMID:30245029, PMID:30303587, PMID:30311386, PMID:30390570, PMID:30459346, PMID:30718709, PMID:31479088 NCBI chr11:77,128,192...77,215,241
Ensembl chr11:77,128,246...77,215,241
JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 21
ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21
ClinVar PMID:9150164, PMID:9590290, PMID:9949200, PMID:12746400, PMID:17431902, PMID:17661817, PMID:18022253, PMID:18797289, PMID:20947814, PMID:21520338, PMID:21917145, PMID:22718023, PMID:22980975, PMID:23967202, PMID:24033266, PMID:24586623, PMID:25262649, PMID:25741868, PMID:26467025, PMID:27068579, PMID:27627659, PMID:28000701, PMID:28492532, PMID:29196752, PMID:30311386, PMID:31163360 NCBI chr11:121,024,102...121,191,490 JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 21
ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21
ClinVar
OMIM
PMID:9150164, PMID:9590290, PMID:9949200, PMID:12746400, PMID:17431902, PMID:17661817, PMID:18022253, PMID:18797289, PMID:20947814, PMID:21520338, PMID:21917145, PMID:22718023, PMID:22980975, PMID:23967202, PMID:24033266, PMID:24586623, PMID:25262649, PMID:25741868, PMID:26467025, PMID:27068579, PMID:27627659, PMID:28000701, PMID:28492532, PMID:29196752, PMID:30311386, PMID:31163360 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,173...121,191,493
JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOA otoancorin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar
OMIM
PMID:11972037, PMID:19888295, PMID:23173898, PMID:23690975, PMID:24033266, PMID:25373420, PMID:25741868, PMID:26434960, PMID:30740825, PMID:30828794 NCBI chr16:21,663,968...21,762,625
Ensembl chr16:21,663,971...21,761,935
Ensembl chr16:21,663,971...21,761,935
JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 23 ClinVar PMID:25741868 NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051
JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 23 ClinVar
OMIM
PMID:11398101, PMID:11487575, PMID:12711741, PMID:14570705, PMID:15028842, PMID:15660226, PMID:18484607, PMID:18719945, PMID:19107147, PMID:19375528, PMID:19683999, PMID:21436283, PMID:21569298, PMID:22815625, PMID:24033266, PMID:24105371, PMID:24498627, PMID:24705292, PMID:25262649, PMID:25307757, PMID:25404053, PMID:25425308, PMID:25468891, PMID:25525159, PMID:25741868, PMID:27440999, PMID:27460420, PMID:28492532 NCBI chr10:53,802,771...55,629,182
Ensembl chr10:53,802,771...55,627,942
JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RDX radixin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 24 ClinVar
OMIM
PMID:17226784, PMID:19215054, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27231709, PMID:28492532 NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712
JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 25 ClinVar
OMIM
PMID:20137774, PMID:20137778, PMID:24033266, PMID:25741868, PMID:25802247, PMID:26467025, PMID:28492532 NCBI chr 4:42,892,713...43,030,658
Ensembl chr 4:42,893,267...43,030,658
JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAB1 GRB2 associated binding protein 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 26 ClinVar
OMIM
PMID:11101839, PMID:25741868, PMID:29408807 NCBI chr 4:143,336,876...143,474,565
Ensembl chr 4:143,336,762...143,474,568
JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIO trio Rho guanine nucleotide exchange factor IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:8643598, PMID:22495306, PMID:23033978, PMID:24038936, PMID:25363760, PMID:25533962, PMID:25741868, PMID:26721934, PMID:27418539, PMID:28928363, PMID:32109419 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar
OMIM
PMID:16385457, PMID:16385458, PMID:23967202, PMID:24033266, PMID:25741868, PMID:27014650, PMID:28492532 NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556
JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN14 claudin 14 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 29 ClinVar
OMIM
PMID:11163249, PMID:15880785, PMID:22246673, PMID:23590985, PMID:23991001, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26969326, PMID:27838790, PMID:28492532 NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569
JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC105371566 uncharacterized LOC105371566 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar NCBI chr17:18,107,691...18,117,561 JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 3
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3
ClinVar
OMIM
PMID:7616538, PMID:7704031, PMID:9603736, PMID:10552926, PMID:11735029, PMID:17546645, PMID:17853461, PMID:18804553, PMID:19274735, PMID:20642360, PMID:21917145, PMID:22245518, PMID:22736430, PMID:22903915, PMID:23208854, PMID:23767834, PMID:23804846, PMID:23865914, PMID:23967202, PMID:24033266, PMID:24123792, PMID:24130743, PMID:24206587, PMID:24498627, PMID:24875298, PMID:25262649, PMID:25741868, PMID:25792667, PMID:26226137, PMID:26242193, PMID:26399936, PMID:26445815, PMID:26467025, PMID:26633542, PMID:26969326, PMID:27068579, PMID:27375115, PMID:27436265, PMID:27734841, PMID:27870113, PMID:28000701, PMID:28492532, PMID:29986705, PMID:30311386, PMID:30622556, PMID:30828794, PMID:30953472, PMID:31980526 NCBI chr17:18,108,756...18,180,244
Ensembl chr17:18,108,706...18,179,802
JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 30 ClinVar
OMIM
PMID:12032315, PMID:17344846, PMID:21165622, PMID:23967202, PMID:23990876, PMID:24033266, PMID:24214986, PMID:25741868, PMID:26166082, PMID:26467025, PMID:27068579, PMID:28492532, PMID:32006683 NCBI chr10:25,934,229...26,212,536
Ensembl chr10:25,934,229...26,212,532
JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WHRN whirlin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 31 ClinVar
OMIM
PMID:11973626, PMID:12833159, PMID:15841483, PMID:20352026, PMID:21569298, PMID:21654738, PMID:22135276, PMID:23804846, PMID:24033266, PMID:25262649, PMID:25404053, PMID:25468891, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30245029 NCBI chr 9:114,402,078...114,505,500
Ensembl chr 9:114,402,080...114,505,473
JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC14A cell division cycle 14A IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal recessive 32
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:12634867, PMID:25741868, PMID:27259055, PMID:29293958 NCBI chr 1:100,345,001...100,520,281
Ensembl chr 1:100,345,001...100,520,277
JBrowse link
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESRRB estrogen related receptor beta IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 35 ClinVar
OMIM
PMID:12529709, PMID:18179891, PMID:22951369, PMID:23767834, PMID:24033266, PMID:25342930, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29636544 NCBI chr14:76,371,271...76,501,839
Ensembl chr14:76,310,712...76,501,837
JBrowse link
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESPN espin IAGP ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant
ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement
ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement
ClinVar
OMIM
PMID:9763424, PMID:15286153, PMID:15930085, PMID:18973245, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29572253 NCBI chr 1:6,424,776...6,461,367
Ensembl chr 1:6,424,776...6,461,367
JBrowse link
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 37 ClinVar
OMIM
PMID:11167014, PMID:12687499, PMID:18212818, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532 NCBI chr 6:75,749,203...75,919,537
Ensembl chr 6:75,749,192...75,919,537
JBrowse link
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGF hepatocyte growth factor IAGP DNA:deletions,mutation:intron,exon:
ClinVar Annotator: match by term: Deafness, autosomal recessive 39
ClinVar
OMIM
PMID:18564920, PMID:19576567, PMID:24033266, PMID:25741868, PMID:28492532, PMID:19576567 RGD:8548545 NCBI chr 7:81,699,006...81,770,438
Ensembl chr 7:81,699,010...81,770,438
JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXI1 forkhead box I1 IAGP OMIM NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734
JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: Dilated vestibular aqueduct
ClinVar Annotator: match by term: KCNJ10-Related Disorders
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
OMIM
ClinVar
PMID:19289823, PMID:19426954, PMID:20651251, PMID:20678478, PMID:20807765, PMID:21088294, PMID:23869231, PMID:23918157, PMID:23924083, PMID:24378235, PMID:24860705, PMID:25372295, PMID:25741868, PMID:26467025, PMID:27677466, PMID:27875746, PMID:28492532 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160
JBrowse link
G LMNA lamin A/C IAGP ClinVar Annotator: match by term: Dilated vestibular aqueduct ClinVar PMID:15205219, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26602028, PMID:28492532 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP
ISO
DNA:missense mutations, insertions, snp:multiple (human)
ClinVar Annotator: match by term: Enlarged vestibular aqueduct syndrome
ClinVar Annotator: match by term: Dilated vestibular aqueduct
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
DNA:mutations:multiple (human)
DNA:transition:intron:g.IVS7-2A>G (human)
ClinVar
OMIM
PMID:2422447, PMID:8541853, PMID:9070918, PMID:9398842, PMID:9500541, PMID:9604973, PMID:9618166, PMID:9618167, PMID:10190331, PMID:10602116, PMID:10700480, PMID:10718825, PMID:10861298, PMID:10874637, PMID:10878664, PMID:10902795, PMID:11317356, PMID:11375792, PMID:11405873, PMID:11502831, PMID:11748854, PMID:11919333, PMID:11932316, PMID:12112665, PMID:12354788, PMID:12642503, PMID:12676893, PMID:12788906, PMID:12974744, PMID:14508505, PMID:14679580, PMID:14715652, PMID:15099345, PMID:15279074, PMID:15355436, PMID:15531480, PMID:15574297, PMID:15679828, PMID:15689455, PMID:15720248, PMID:15747138, PMID:15811013, PMID:15933521, PMID:16053392, PMID:16283880, PMID:16460646, PMID:16570074, PMID:16711435, PMID:16773579, PMID:16924389, PMID:16950989, PMID:17309986, PMID:17322586, PMID:17357124, PMID:17443271, PMID:17503324, PMID:17718863, PMID:17766716, PMID:17851929, PMID:17876604, PMID:17940114, PMID:18167283, PMID:18274916, PMID:18283249, PMID:18285825, PMID:18310264, PMID:18322141, PMID:18585793, PMID:18641518, PMID:18813951, PMID:19017801, PMID:19040761, PMID:19169484, PMID:19204907, PMID:19287372, PMID:19426954, PMID:19509082, PMID:19565036, PMID:19578036, PMID:19608655, PMID:19615760, PMID:19620588, PMID:19786220, PMID:19787632, PMID:20128824, PMID:20301640, PMID:20553101, PMID:20583162, PMID:20597900, PMID:20621367, PMID:20668687, PMID:20826203, PMID:20842945, PMID:21045265, PMID:21154317, PMID:21366435, PMID:21551164, PMID:21704276, PMID:21811566, PMID:21961810, PMID:22116358, PMID:22116360, PMID:22285650, PMID:22384008, PMID:22717225, PMID:22884721, PMID:22903915, PMID:22975760, PMID:23151025, PMID:23185506, PMID:23208854, PMID:23273637, PMID:23336812, PMID:23385134, PMID:23504402, PMID:23555729, PMID:23638949, PMID:23705809, PMID:23718755, PMID:23770805, PMID:23918157, PMID:23958391, PMID:23965030, PMID:24007330, PMID:24033266, PMID:24051746, PMID:24105851, PMID:24224479, PMID:24338212, PMID:24599119, PMID:24860705, PMID:24875928, PMID:25262649, PMID:25266519, PMID:25290043, PMID:25372295, PMID:25373420, PMID:25394566, PMID:25468468, PMID:25491636, PMID:25741868, PMID:25788563, PMID:25910213, PMID:25991456, PMID:25999548, PMID:26022370, PMID:26100058, PMID:26226137, PMID:26252218, PMID:26346818, PMID:26445815, PMID:26485571, PMID:26683941, PMID:26744121, PMID:26752218, PMID:26763877, PMID:26969326, PMID:27344577, PMID:27541434, PMID:27771369, PMID:28000701, PMID:28273078, PMID:28444304, PMID:28492532, PMID:28576516, PMID:28604962, PMID:28964290, PMID:28984810, PMID:29048421, PMID:29196752, PMID:29293505, PMID:29372807, PMID:29546359, PMID:29739340, PMID:30068397, PMID:30077349, PMID:30139988, PMID:30240412, PMID:30245029, PMID:30311386, PMID:30484383, PMID:30622556, PMID:30693673, PMID:30760291, PMID:31599023, PMID:19509082, PMID:11317356, PMID:18167283, PMID:21965328 RGD:7411543, RGD:7421508, RGD:7411671, RGD:7411556 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 4, WITH ENLARGED VESTIBULAR AQUEDUCT
ClinVar Annotator: match by term: Enlarged vestibular aqueduct syndrome
ClinVar PMID:11317356, PMID:11748854, PMID:12642503, PMID:14679580, PMID:15099345, PMID:15355436, PMID:15689455, PMID:16570074, PMID:16950989, PMID:17503324, PMID:18285825, PMID:18322141, PMID:19017801, PMID:19204907, PMID:19578036, PMID:19787632, PMID:20597900, PMID:21045265, PMID:21704276, PMID:22285650, PMID:23208854, PMID:23336812, PMID:23555729, PMID:23965030, PMID:24033266, PMID:24224479, PMID:25372295, PMID:25394566, PMID:25741868, PMID:25910213, PMID:25991456, PMID:26022370, PMID:28492532, PMID:29196752, PMID:30068397 NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204
JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 42 ClinVar
OMIM
PMID:15641023, PMID:21255762, PMID:24033266, PMID:25741868 NCBI chr 3:121,987,323...122,060,554
Ensembl chr 3:121,987,323...122,022,247
JBrowse link
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY1 adenylate cyclase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 44 ClinVar
OMIM
PMID:15583425, PMID:24482543, PMID:24824130 NCBI chr 7:45,574,140...45,723,116
Ensembl chr 7:45,574,140...45,723,116
JBrowse link
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB2 calcium and integrin binding family member 2 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal recessive 48
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:23023331, PMID:25741868, PMID:26416264 NCBI chr15:78,104,606...78,131,976
Ensembl chr15:78,104,606...78,131,535
JBrowse link
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARVELD2 MARVEL domain containing 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 49
ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49
ClinVar
OMIM
PMID:17186462, PMID:18084694, PMID:23979167, PMID:24033266, PMID:25652404, PMID:25741868, PMID:25885414, PMID:26467025, PMID:28492532 NCBI chr 5:69,415,116...69,444,330
Ensembl chr 5:69,415,065...69,444,330
JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 53 ClinVar
OMIM
PMID:16033917, PMID:23967202, PMID:24033266, PMID:25633957, PMID:25741868 NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
autosomal recessive nonsyndromic deafness 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57 ClinVar
OMIM
PMID:20440071, PMID:24033266, PMID:25741868, PMID:26416264, PMID:26849169, PMID:28492532, PMID:29048736, PMID:30622556 NCBI chr10:101,007,679...101,031,145
Ensembl chr10:101,007,679...101,032,295
JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PJVK pejvakin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar
OMIM
PMID:16804542, PMID:17301963, PMID:17329413, PMID:17373699, PMID:17718865, PMID:21935370, PMID:23804846, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:178,450,592...178,467,549
Ensembl chr 2:178,451,346...178,461,409
Ensembl chr 2:178,451,346...178,461,409
JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,414...178,451,512
JBrowse link
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMIE transmembrane inner ear IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 6 ClinVar
OMIM
PMID:8593615, PMID:12145746, PMID:19438934, PMID:24033266, PMID:24875298, PMID:25741868, PMID:28492532 NCBI chr 3:46,693,778...46,710,886
Ensembl chr 3:46,694,528...46,710,886
JBrowse link
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A5 solute carrier family 26 member 5 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 61 OMIM
ClinVar
PMID:12719379, PMID:16086836, PMID:24033266, PMID:24164807, PMID:25262649, PMID:28492532 NCBI chr 7:103,352,598...103,446,207
Ensembl chr 7:103,352,730...103,446,207
JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:72,106,372...72,112,780
Ensembl chr11:72,106,378...72,112,780
JBrowse link
G LRTOMT leucine rich transmembrane and O-methyltransferase domain containing IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar
OMIM
PMID:17211611, PMID:18794526, PMID:18953341, PMID:22908982, PMID:23053991, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr11:72,080,342...72,110,782
Ensembl chr11:72,080,337...72,096,895
Ensembl chr11:72,080,337...72,096,895
JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr11:72,002,864...72,080,686
Ensembl chr11:72,002,864...72,080,693
JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCDC2 doublecortin domain containing 2 IAGP DNA:missense mutation:cds:p.Q424P (human)
ClinVar Annotator: match by term: Deafness, autosomal recessive 66
ClinVar
OMIM
PMID:16244493, PMID:23677054, PMID:23746548, PMID:25601850, PMID:25741868, PMID:26467025, PMID:27469900, PMID:28440294, PMID:28461130, PMID:28461131, PMID:28492532, PMID:25601850 RGD:10412291 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059
JBrowse link
G KAAG1 kidney associated antigen 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 66 ClinVar PMID:28492532 NCBI chr 6:24,356,903...24,358,285
Ensembl chr 6:24,356,903...24,358,285
JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHFPL5 LHFPL tetraspan subfamily member 5 IAGP
EXP
ClinVar Annotator: match by term: Deafness, autosomal recessive 67
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16459341, PMID:16752389, PMID:24033266, PMID:25741868, PMID:27148795, PMID:28492532, PMID:30177809 NCBI chr 6:35,805,352...35,824,070
Ensembl chr 6:35,797,206...35,845,397
JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1PR2 sphingosine-1-phosphate receptor 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 68 ClinVar
OMIM
PMID:16703383, PMID:24824130, PMID:26805784 NCBI chr19:10,221,433...10,231,331
Ensembl chr19:10,221,433...10,231,331
JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC1 transmembrane channel like 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 7
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11
ClinVar
OMIM
PMID:11850618, PMID:16134132, PMID:17877751, PMID:18414213, PMID:18616530, PMID:19187973, PMID:20373850, PMID:21250555, PMID:21252500, PMID:21917145, PMID:22607986, PMID:23208854, PMID:24033266, PMID:24416283, PMID:24949729, PMID:25491636, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,291
Ensembl chr 9:72,521,608...72,838,291
JBrowse link
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 70 ClinVar
OMIM
PMID:23084290, PMID:25741868 NCBI chr 2:55,634,061...55,693,853
Ensembl chr 2:55,634,061...55,693,863
JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSRB3 methionine sulfoxide reductase B3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 74 ClinVar
OMIM
PMID:19650862, PMID:21185009, PMID:25741868 NCBI chr12:65,278,593...65,466,907
Ensembl chr12:65,278,643...65,491,430
JBrowse link
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNE4 spectrin repeat containing nuclear envelope family member 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 76 ClinVar
OMIM
PMID:23348741 NCBI chr19:36,003,307...36,008,813
Ensembl chr19:36,003,307...36,008,813
JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOXHD1 lipoxygenase homology domains 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 77 ClinVar
OMIM
PMID:16385454, PMID:16936105, PMID:19732867, PMID:21465660, PMID:22341973, PMID:22975204, PMID:23226338, PMID:23804846, PMID:23897863, PMID:24033266, PMID:25333069, PMID:25741868, PMID:25792669, PMID:25938503, PMID:26346818, PMID:26467025, PMID:26969326, PMID:27068579, PMID:27246798, PMID:27959697, PMID:27984600, PMID:28000701, PMID:28383030, PMID:28492532, PMID:29309402, PMID:29676012, PMID:30311386 NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 77 ClinVar PMID:10729113, PMID:15015129, PMID:15043528, PMID:15241801, PMID:15325563, PMID:16963483, PMID:18641288, PMID:20301515, PMID:21465660, PMID:22135276, PMID:22334370, PMID:24033266, PMID:24265693, PMID:24498627, PMID:24944099, PMID:25649381, PMID:25741868, PMID:25999674, PMID:28041643, PMID:28492532, PMID:28559085 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPRN taperin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 79 ClinVar
OMIM
PMID:20170898, PMID:20170899, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:137,191,619...137,200,741
Ensembl chr 9:137,191,617...137,204,193
JBrowse link
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMPRSS3 transmembrane serine protease 3 IAGP ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8
ClinVar Annotator: match by term: Deafness, autosomal recessive 8
ClinVar Annotator: match by term: Deafness, autosomal recessive 10
ClinVar Annotator: match by term: Deafness, autosomal recessive 8/10
ClinVar
OMIM
PMID:11137999, PMID:11424922, PMID:11462234, PMID:11907649, PMID:12393794, PMID:12920079, PMID:15447792, PMID:16021470, PMID:16283880, PMID:16524950, PMID:17551081, PMID:17981648, PMID:19170735, PMID:21534946, PMID:21786053, PMID:22382023, PMID:22975204, PMID:23208854, PMID:23958653, PMID:23967202, PMID:24033266, PMID:24416283, PMID:24526180, PMID:24657061, PMID:25262649, PMID:25474651, PMID:25741868, PMID:25770132, PMID:26036852, PMID:26408194, PMID:26467025, PMID:26969326, PMID:28246597, PMID:28263784, PMID:28492532, PMID:28566687, PMID:28695016, PMID:29196752, PMID:30311386 NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091
Ensembl chr21:42,371,887...42,396,091
JBrowse link
autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 84 ClinVar
OMIM
PMID:20346435, PMID:25741868 NCBI chr12:80,424,261...80,680,273
Ensembl chr12:80,402,178...80,680,273
JBrowse link
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOGL otogelin like IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 84b ClinVar
OMIM
PMID:23122586, PMID:24033266, PMID:25741868 NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,879
JBrowse link
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNF cyclin F IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 86 ClinVar PMID:22277662, PMID:24033266, PMID:24848745, PMID:25741868, PMID:26371875, PMID:26467025, PMID:27259978, PMID:27281533, PMID:28301460, PMID:28492532, PMID:29358611 NCBI 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 recessive 86 ClinVar
OMIM
PMID:22211675, PMID:22277662, PMID:24033266, PMID:24387994, PMID:24729539, PMID:24729547, PMID:24824130, PMID:24848745, PMID:25741868, PMID:25769375, PMID:26371875, PMID:26467025, PMID:27259978, PMID:27281533, PMID:28292732, PMID:28301460, PMID:28428906, PMID:28492532, PMID:29358611 NCBI chr16:2,475,104...2,509,669
Ensembl chr16:2,475,051...2,509,560
JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELMOD3 ELMO domain containing 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 88 ClinVar
OMIM
PMID:24039609 NCBI chr 2:85,354,394...85,391,752
Ensembl chr 2:85,354,394...85,391,752
JBrowse link
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 89
ClinVar Annotator: match by term: Deafness autosomal recessive 89
OMIM
ClinVar
PMID:21181198, PMID:23768514, PMID:24033266, PMID:24824130, PMID:25356970, PMID:25741868 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643
JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A1 collagen type V alpha 1 chain IAGP ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:25326637, PMID:28492532 NCBI chr 9:134,641,789...134,844,843
Ensembl chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843
JBrowse link
G IGSF6 immunoglobulin superfamily member 6 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr16:21,639,550...21,652,608
Ensembl chr16:21,639,550...21,652,608
JBrowse link
G METTL9 methyltransferase like 9 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr16:21,597,208...21,657,471
Ensembl chr16:21,597,218...21,657,473
JBrowse link
G OTOA otoancorin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr16:21,663,968...21,762,625
Ensembl chr16:21,663,971...21,761,935
Ensembl chr16:21,663,971...21,761,935
JBrowse link
G OTOF otoferlin IAGP
ISO
DNA:nonsense mutation:cds:p.Y730X (human)
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9
ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1
DNA:duplication:cds:c.1981dupG (human)
DNA:missense mutation:cds:p.D1767G (mouse)
DNA:missense mutation:cds:p.R1939Q (human)
DNA:snps, deletion:cds:multiple (human)
associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human)
DNA:missense mutation:cds:p.L1011P (human)
DNA:snp:intron:IVS8-2A>G (human)
DNA:nonsense mutation:cds:p.Q829X (human)
ClinVar
OMIM
PMID:9657592, PMID:10192385, PMID:10878664, PMID:10903124, PMID:12114484, PMID:12127154, PMID:12525542, PMID:14635104, PMID:16097006, PMID:16226319, PMID:16283880, PMID:16371502, PMID:17512949, PMID:18381613, PMID:18804553, PMID:19250381, PMID:19461658, PMID:20146813, PMID:20224275, PMID:20230791, PMID:20301429, PMID:20504331, PMID:21557232, PMID:21935370, PMID:22575033, PMID:22607986, PMID:22906306, PMID:23208854, PMID:24033266, PMID:24053799, PMID:24746455, PMID:24814232, PMID:25262649, PMID:25741868, PMID:25991456, PMID:26186295, PMID:26434960, PMID:26467025, PMID:26763877, PMID:26818607, PMID:26969326, PMID:27018795, PMID:27068579, PMID:27082237, PMID:27177047, PMID:27621663, PMID:27729456, PMID:27766948, PMID:27821677, PMID:28492532, PMID:28766844, PMID:29048421, PMID:29362361, PMID:29752989, PMID:30096381, PMID:30245029, PMID:31095577, PMID:10192385, PMID:22906306, PMID:22575033, PMID:22575033, PMID:14635104, PMID:20230791, PMID:16097006, PMID:10903124, PMID:12114484 RGD:9479153, RGD:9585724, RGD:9491826, RGD:9491826, RGD:9491386, RGD:9479161, RGD:9479157, RGD:737640, RGD:9479156 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,698
Ensembl chr 2:26,457,203...26,558,698
JBrowse link
G RAI1 retinoic acid induced 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868, PMID:27082237 NCBI chr17:17,681,376...17,811,453
Ensembl chr17:17,681,458...17,811,453
JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINB6 serpin family B member 6 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 91 ClinVar
OMIM
PMID:20451170, PMID:24033266, PMID:25741868 NCBI chr 6:2,948,159...2,971,793
Ensembl chr 6:2,948,159...2,972,165
JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CABP2 calcium binding protein 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 93 OMIM
ClinVar
PMID:22981119, PMID:25741868, PMID:26445815, PMID:28492532 NCBI chr11:67,518,912...67,523,446
Ensembl chr11:67,518,912...67,524,517
JBrowse link
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 OMIM
ClinVar
PMID:25741868, PMID:25807530 NCBI chr11:78,435,968...78,574,864
Ensembl chr11:78,435,968...78,574,874
JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 97 ClinVar
OMIM
PMID:25941349 NCBI chr 7:116,672,196...116,798,386
Ensembl chr 7:116,672,196...116,798,386
JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 OMIM
ClinVar
PMID:22678063, PMID:27736875 NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572
JBrowse link
G TSPEAR-AS1 TSPEAR antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:22678063, PMID:27736875 NCBI chr21:44,506,044...44,516,575
Ensembl chr21:44,506,807...44,516,575
JBrowse link
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM132E transmembrane protein 132E IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 99 OMIM
ClinVar
PMID:12673573, PMID:25331638, PMID:31656313 NCBI chr17:34,579,582...34,639,318
Ensembl chr17:34,579,487...34,639,318
JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC9A1 solute carrier family 9 member A1 IAGP ClinVar Annotator: match by term: Lichtenstein-knorr syndrome ClinVar
OMIM
PMID:25205112, PMID:25741868, PMID:30018422 NCBI chr 1:27,098,809...27,155,125
Ensembl chr 1:27,098,809...27,166,981
JBrowse link
autosomal-mitochondrial sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CO1 mitochondrially encoded cytochrome c oxidase I EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445
JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601
JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAF MAF bZIP transcription factor IAGP ClinVar Annotator: match by term: Cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation ClinVar
OMIM
PMID:8834052, PMID:8867660, PMID:12072800, PMID:17935251, PMID:25865493 NCBI chr16:79,202,624...79,601,952
Ensembl chr16:79,585,843...79,600,737
JBrowse link
Bart-Pumphrey syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 IAGP DNA:mutation:cds:p.N54K(human)
ClinVar Annotator: match by term: Bart-Pumphrey syndrome
ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
ClinVar
OMIM
PMID:1218943, PMID:1693158, PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, PMID:9328482, PMID:9336442, PMID:9393973, PMID:9422505, PMID:9471561, PMID:9482292, PMID:9529365, PMID:9600457, PMID:9620796, PMID:9710598, PMID:9716127, PMID:9819448, PMID:10049954, PMID:10204859, PMID:10218527, PMID:10369869,