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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:Sensation Disorders
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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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19200067 NCBI chr 2:129,686,549...129,699,938
Ensembl chr 2:129,686,565...129,699,844
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 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ClinVar Annotator: match by OMIM:614739
OMIM
ClinVar
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 chr17:6,040,571...6,079,789
Ensembl chr17:6,042,196...6,079,741
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 22 ISO ClinVar Annotator: match by OMIM:302905 OMIM
ClinVar
PMID:839509, PMID:22784330 NCBI chr  X:107,667,964...107,688,980
Ensembl chr  X:107,667,964...107,688,978
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 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:24033266, PMID:28041643 NCBI chr 1:170,704,457...170,868,585
Ensembl chr 1:170,704,674...170,867,771
JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:19074807, PMID:23714322, PMID:28492532, PMID:29525873, PMID:30718709 NCBI chr19:4,135,423...4,144,080
Ensembl chr19:4,135,423...4,144,033
JBrowse link
G Cacna2d4 calcium channel, voltage-dependent, alpha 2/delta subunit 4 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:28492532, PMID:30311386 NCBI chr 6:119,236,524...119,352,407
Ensembl chr 6:119,236,526...119,352,407
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO 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 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO 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 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
G Gnat2 guanine nucleotide binding protein, alpha transducing 2 ISO ClinVar Annotator: match by term: Achromatopsia ClinVar PMID:25741868 NCBI chr 3:108,086,788...108,101,432
Ensembl chr 3:108,092,789...108,101,432
JBrowse link
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime ISO
IEA
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 chr19:38,132,781...38,183,955
Ensembl chr19:38,132,781...38,183,958
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 alpha 3 ISO 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 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 treatment ISO
IMP
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 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
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, sub-family A (ABC1), member 4 ISO 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 3:122,043,891...122,180,070
Ensembl chr 3:122,044,443...122,180,123
JBrowse link
G Cnga3 cyclic nucleotide gated channel alpha 3 ISO
IEA
ClinVar Annotator: match by term: Rod monochromacy 2
ClinVar Annotator: match by term: Achromatopsia 2
OMIM:216900
ClinVar Annotator: match by OMIM:216900
OMIM
ClinVar
MouseDO
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 1:37,218,241...37,263,384
Ensembl chr 1:37,214,434...37,263,384
JBrowse link
G Cngb3 cyclic nucleotide gated channel beta 3 ISO 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 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
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 beta 3 ISO
IEA
ClinVar Annotator: match by term: Total colorblindness with myopia
ClinVar Annotator: match by term: Achromatopsia 3
OMIM:262300
ClinVar Annotator: match by term: ROD MONOCHROMATISM 1
ClinVar Annotator: match by OMIM:262300
OMIM
ClinVar
MouseDO
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 4:19,280,850...19,510,623
Ensembl chr 4:19,280,850...19,510,623
JBrowse link
achromatopsia 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnat2 guanine nucleotide binding protein, alpha transducing 2 ISO
IEA
ClinVar Annotator: match by term: Achromatopsia 4
OMIM:613856
ClinVar Annotator: match by OMIM:613856
OMIM
ClinVar
MouseDO
PMID:12077706, PMID:12205108, PMID:15557429, PMID:21107338, PMID:25741868, PMID:28492532 NCBI chr 3:108,086,788...108,101,432
Ensembl chr 3:108,092,789...108,101,432
JBrowse link
Achromatopsia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde6c phosphodiesterase 6C, cGMP specific, cone, alpha prime ISO ClinVar Annotator: match by term: Achromatopsia 5 ClinVar PMID:19887631, PMID:25741868, PMID:30080950 NCBI chr19:38,132,781...38,183,955
Ensembl chr19:38,132,781...38,183,958
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 ISO ClinVar Annotator: match by term: Achromatopsia 7 OMIM
ClinVar
PMID:24824130, PMID:26029869, PMID:26063662 NCBI chr 1:170,704,457...170,868,585
Ensembl chr 1:170,704,674...170,867,771
JBrowse link
Amaurosis Fugax term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO RGD PMID:15073384 RGD:1582361 NCBI chr 9:7,464,141...7,476,869
Ensembl chr 9:7,464,141...7,476,869
JBrowse link
G Ppp1r15a protein phosphatase 1, regulatory subunit 15A IEP mRNA:increased expression:neuroretina (mouse) RGD PMID:17975099 RGD:9999160 NCBI chr 7:45,522,917...45,526,268
Ensembl chr 7:45,522,916...45,526,268
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 ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:64,729,125...64,731,245
Ensembl chr 6:64,729,125...64,731,245
JBrowse link
G Cacna1f calcium channel, voltage-dependent, alpha 1F subunit ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:30311386 NCBI chr  X:7,607,103...7,635,196
Ensembl chr  X:7,607,083...7,635,196
JBrowse link
G Ppargc1a peroxisome proliferative activated receptor, gamma, coactivator 1 alpha ISO protein:decreased expression:visual cortex (rat) RGD PMID:20438809 RGD:10059668 NCBI chr 5:51,454,249...52,115,853
Ensembl chr 5:51,454,250...51,567,726
JBrowse link
G Tfap2a transcription factor AP-2, alpha ISO ClinVar Annotator: match by term: Lazy eye ClinVar PMID:25741868 NCBI chr13:40,713,802...40,738,238
Ensembl chr13:40,715,302...40,738,376
JBrowse link
G Tsen54 tRNA splicing endonuclease subunit 54 ISO 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 chr11:115,813,728...115,823,102
Ensembl chr11:115,814,724...115,823,094
JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: 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:5,328...6,872
Ensembl chr MT:5,328...6,872
JBrowse link
G mt-Rnr1 12S rRNA, mitochondrial ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771, PMID:7689389, PMID:8285309, PMID:8414970, PMID: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:70...1,024
Ensembl chr MT:70...1,024
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 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:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase ISO ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of OMIM
ClinVar
PMID:8817331, PMID:28049726 NCBI chr15:85,879,309...85,897,394
Ensembl chr15:85,879,312...85,897,394
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain transcription factor 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome
ClinVar Annotator: match by OMIM:301835
OMIM
ClinVar
PMID:8498830, PMID:17701896, PMID:22246954, PMID:24033266, PMID:24528855, PMID:25741868, PMID:28492532 NCBI chr  X:140,456,603...140,476,140
Ensembl chr  X:140,456,613...140,476,140
JBrowse link
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO
IEA
ClinVar Annotator: match by term: Bosley Salih Alorainy syndrome
ClinVar Annotator: match by term: Athabaskan Brainstem Dysgenesis Syndrome
OMIM:601536
ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:185delG,175-176insG,76C>T(human)
ClinVar Annotator: match by synonym: Bosley-Salih-Alorainy syndrome
ClinVar Annotator: match by OMIM:601536
OMIM
ClinVar
MouseDO
CTD
PMID:16155570, PMID:18412118, PMID:24239177, PMID:25741868, PMID:28492532, PMID:18412118 RGD:11553818 NCBI chr 6:52,155,367...52,160,007
Ensembl chr 6:52,155,590...52,158,317
JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar NCBI chr 6:52,162,417...52,164,831
Ensembl chr 6:52,162,417...52,164,831
JBrowse link
Auditory Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Rnr1 12S rRNA, mitochondrial ISO 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:70...1,024
Ensembl chr MT:70...1,024
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 ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY AND OPTIC ATROPHY ClinVar
OMIM
PMID:24033266, PMID:25741868, PMID:28965846 NCBI chr11:115,268,024...115,277,101
Ensembl chr11:115,268,024...115,277,050
JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph3 diaphanous related formin 3 ISO
IEA
ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant, 1
OMIM:609129
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:20624953, PMID:25741868, PMID:28492532 NCBI chr14:86,655,357...87,141,247
Ensembl chr14:86,655,367...87,141,235
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 (cytosine-5) 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
ClinVar Annotator: match by OMIM:604121
OMIM
ClinVar
PMID:8747854, PMID:22328086, PMID:25741868 NCBI chr 9:20,907,206...20,959,888
Ensembl chr 9:20,907,209...20,959,888
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase, H+ transporting, lysosomal V1 subunit B2 ISO ClinVar Annotator: match by term: DDOD SYNDROME, UMLS MESH term: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant ClinVar
OMIM
PMID:24913193, PMID:28396750 NCBI chr 8:69,088,736...69,113,718
Ensembl chr 8:69,088,646...69,113,711
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human)
ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
OMIM
ClinVar
PMID:11175790, PMID:15592686, PMID:22392858, PMID:25741868, PMID:30311386, PMID:11175790 RGD:12910984 NCBI chr 5:104,170,703...104,180,127
Ensembl chr 5:104,170,712...104,180,127
JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin, heavy polypeptide 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131, PMID:15845534, PMID:16222661, PMID:23967202, PMID:24033266, PMID:24082139, PMID:25741868, PMID:26284702, PMID:26346818, PMID:26467025, PMID:27393652, PMID:28492532, PMID:30311386, PMID:30828794 NCBI chr 7:44,605,803...44,670,872
Ensembl chr 7:44,605,803...44,670,843
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 IMP
ISO
IEA
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
OMIM:148210
ClinVar Annotator: match by OMIM:148210
DNA:mutation:cds:p.D50N (human)
p.G45E(mouse)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)
ClinVar
MouseDO
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:23924173, PMID:22031297, PMID:18950394, PMID:20307501 RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
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, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr 6:113,743,831...114,042,613
Ensembl chr 6:113,743,831...114,042,613
JBrowse link
G Greb1l growth regulation by estrogen in breast cancer-like ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940
JBrowse link
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chr 6:56,069,798...56,652,510
Ensembl chr 6:56,069,804...56,652,487
JBrowse link
G Pls1 plastin 1 (I-isoform) ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:31397523 NCBI chr 9:95,752,642...95,845,306
Ensembl chr 9:95,752,642...95,845,311
JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 1
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA
ClinVar Annotator: match by null
OMIM
ClinVar
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 chr18:37,843,601...37,935,622
Ensembl chr18:37,843,601...37,935,476
JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 10
ClinVar Annotator: match by OMIM:601316
OMIM
ClinVar
PMID:11159937, PMID:15735644, PMID:17567890, PMID:17568404, PMID:23861362, PMID:23990876, PMID:24033266, PMID:25681523, PMID:25741868, PMID:25781927, PMID:28492532, PMID:28798025, PMID:30165862, PMID:30828794 NCBI chr10:23,102,962...23,350,838
Ensembl chr10:23,102,963...23,350,786
JBrowse link
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 11
ClinVar Annotator: match by OMIM:601317
OMIM
ClinVar
PMID:3130723, PMID: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 chr 7:98,051,054...98,119,522
Ensembl chr 7:98,051,060...98,119,524
JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO
IEA
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8
ClinVar Annotator: match by term: Deafness, autosomal dominant 12
OMIM:601543
ClinVar Annotator: match by OMIM:601543
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
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 chr 9:42,329,622...42,401,690
Ensembl chr 9:42,329,619...42,399,929
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 breast cancer 1, early onset ISO 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 chr11:101,488,761...101,551,955
Ensembl chr11:101,488,764...101,551,955
JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal dominant 13
OMIM:601868
ClinVar Annotator: match by OMIM:601868
OMIM
ClinVar
MouseDO
PMID:10581026, PMID:15372529, PMID:24033266, PMID:25633957, PMID:25741868 NCBI chr17:34,038,919...34,066,684
Ensembl chr17:34,039,437...34,066,685
JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU domain, class 4, transcription factor 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 15
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:602459
OMIM
ClinVar
PMID:9506947, PMID:14585957, PMID:18228599, PMID:20434433, PMID:24033266, PMID:24260153, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29850532, PMID:30311386 NCBI chr18:42,394,597...42,396,093
Ensembl chr18:42,394,539...42,397,249
JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502, PMID:24033266 NCBI chr 2:121,363,248...121,381,370
Ensembl chr 2:121,363,728...121,387,168
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17
ClinVar Annotator: match by term: Deafness, autosomal dominant 17
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 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 chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma, cytoplasmic 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 20
ClinVar Annotator: match by OMIM:604717
OMIM
ClinVar
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 chr11:120,345,687...120,348,495
Ensembl chr11:120,345,690...120,348,542
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal dominant 22
OMIM:606346
ClinVar Annotator: match by OMIM:606346
OMIM
ClinVar
MouseDO
PMID:11167014, PMID:11468689, PMID:12687499, PMID:15123708, PMID:18212818, PMID:18348273, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532 NCBI chr 9:80,164,976...80,311,729
Ensembl chr 9:80,165,031...80,311,729
JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six1 sine oculis-related homeobox 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 23
ClinVar Annotator: match by OMIM:605192
OMIM
ClinVar
PMID:10777717, PMID:12843324, PMID:15141091, PMID:16971658, PMID:19497856, PMID:21280147, PMID:21700001, PMID:24033266, PMID:25326635, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr12:73,041,827...73,046,712
Ensembl chr12:73,040,015...73,053,887
JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a8 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal dominant 25
OMIM:605583
OMIM
ClinVar
MouseDO
PMID:18674745, PMID:23967202, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr10:89,574,020...89,621,249
Ensembl chr10:89,574,020...89,621,253
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 IEA OMIM:605583 MouseDO NCBI chr 5:114,622,152...114,658,435
Ensembl chr 5:114,622,152...114,658,421
JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 27 OMIM
ClinVar
PMID:29961578 NCBI chr 5:77,265,494...77,286,432
Ensembl chr 5:77,265,491...77,286,432
JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead like transcription factor 2 ISO DNA:nonsense mutation:exon:
ClinVar Annotator: match by OMIM:608641
ClinVar
OMIM
PMID:12393799, PMID:23813623, PMID:12393799 RGD:1599382 NCBI chr15:37,232,821...37,363,569
Ensembl chr15:37,233,036...37,363,569
JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq4 potassium voltage-gated channel, subfamily Q, member 4 ISO ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 2A
ClinVar Annotator: match by OMIM:600101
OMIM
ClinVar
PMID:8035838, PMID:9126484, PMID:10025409, PMID:10369879, PMID:10571947, 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 4:120,696,134...120,747,491
Ensembl chr 4:120,696,138...120,748,612
JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 2b OMIM
ClinVar
PMID:9843210, PMID:16077902, PMID:21204020, PMID:23638949, PMID:24033266, PMID:28492532 NCBI chr 4:127,325,235...127,330,836
Ensembl chr 4:127,325,235...127,330,844
JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION ClinVar
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 chr11:59,541,569...59,566,955
Ensembl chr11:59,541,568...59,566,956
JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc1 transmembrane channel-like gene family 1 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal dominant 36
OMIM:606705
ClinVar Annotator: match by OMIM:606705
OMIM
ClinVar
MouseDO
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 chr19:20,783,456...21,037,126
Ensembl chr19:20,783,458...20,954,202
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 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 OMIM
ClinVar
PMID:30245514 NCBI chr 3:114,030,479...114,220,756
Ensembl chr 3:114,030,540...114,220,718
JBrowse link
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a
ClinVar Annotator: match by OMIM:601544
OMIM
ClinVar
PMID:1218943, PMID:1511312, PMID:1693158, PMID:2104787, PMID:2706105, 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 chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b
ClinVar Annotator: match by OMIM:612643
OMIM
ClinVar
PMID:10471490, PMID:16547895, PMID:16950989, PMID:17259707, PMID:20858605, PMID:25262649, PMID:25741868, PMID:28492532, PMID:28501645 NCBI chr14:57,123,301...57,133,611
Ensembl chr14:57,123,303...57,133,611
JBrowse link
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crym crystallin, mu ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 40 ClinVar
OMIM
PMID:12471561, PMID:24033266, PMID:25741868 NCBI chr 7:120,186,380...120,201,989
Ensembl chr 7:120,186,380...120,202,111
JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2rx2 purinergic receptor P2X, ligand-gated ion channel, 2 ISO ClinVar Annotator: match by OMIM:608224 OMIM
ClinVar
PMID:12161595, PMID:23345450, PMID:24211385 NCBI chr 5:110,339,812...110,343,320
Ensembl chr 5:110,339,812...110,343,212
JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc50 coiled-coil domain containing 50 ISO DNA:duplication:cds:c.1394_1401dupCACGGCAT(human)
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:17503326, PMID:17503326 RGD:9685138 NCBI chr16:27,387,065...27,452,218
Ensembl chr16:27,388,869...27,452,218
JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 48
ClinVar Annotator: match by OMIM:607841
ClinVar
OMIM
PMID:12736868, PMID:24033266, PMID:24616153, PMID:25741868 NCBI chr10:127,703,436...127,720,940
Ensembl chr10:127,705,170...127,720,940
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 carcinoembryonic antigen-related cell adhesion molecule 16 IEA OMIM:600652 MouseDO NCBI chr 7:19,852,097...19,871,426
Ensembl chr 7:19,852,097...19,861,299
JBrowse link
G Myh14 myosin, heavy polypeptide 14 ISO OMIM NCBI chr 7:44,605,803...44,670,872
Ensembl chr 7:44,605,803...44,670,843
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 carcinoembryonic antigen-related cell adhesion molecule 16 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4b
ClinVar Annotator: match by OMIM:614614
OMIM
ClinVar
PMID:7655461, PMID:21368133, PMID:24033266, PMID:25589040, PMID:28492532 NCBI chr 7:19,852,097...19,871,426
Ensembl chr 7:19,852,097...19,861,299
JBrowse link
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsdme gasdermin E ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 5
ClinVar Annotator: match by OMIM:600994
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9771715, PMID:14559215, PMID:14676472, PMID:17868390, PMID:19911014, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:50,207,401...50,263,857
Ensembl chr 6:50,188,888...50,263,862
JBrowse link
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir96 microRNA 96 ISO ClinVar Annotator: match by OMIM:613074 OMIM
ClinVar
PMID:14757864, PMID:19363479 NCBI chr 6:30,169,446...30,169,551
Ensembl chr 6:30,169,446...30,169,551
JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar
OMIM
PMID:20602916 NCBI chr19:24,094,496...24,225,128
Ensembl chr19:24,094,505...24,225,030
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 domain, class 4, transcription factor 3 ISO OMIM NCBI chr18:42,394,597...42,396,093
Ensembl chr18:42,394,539...42,397,249
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pappa pregnancy-associated plasma protein A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106, PMID:23936043 NCBI chr 4:65,124,174...65,357,509
Ensembl chr 4:65,124,174...65,357,509
JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56
ClinVar Annotator: match by OMIM:615629
OMIM
ClinVar
PMID:21681106, PMID:23936043, PMID:25741868, PMID:26467025, PMID:30311386 NCBI chr 4:63,959,785...64,047,015
Ensembl chr 4:63,959,785...64,047,015
JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106, PMID:23936043 NCBI chr 4:63,831,202...63,861,508
Ensembl chr 4:63,831,308...63,861,347
JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
ClinVar Annotator: match by OMIM:600965
OMIM
ClinVar
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 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diablo diablo, IAP-binding mitochondrial protein ISO ClinVar Annotator: match by OMIM:614152 OMIM
ClinVar
PMID:21722859 NCBI chr 5:123,511,330...123,524,164
Ensembl chr 5:123,509,765...123,524,176
JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar
PMID: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 chr17:24,175,431...24,205,562
Ensembl chr17:24,175,431...24,205,562
JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd164 CD164 antigen ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 66 ClinVar
OMIM
PMID:26197441 NCBI chr10:41,519,500...41,531,042
Ensembl chr10:41,519,414...41,531,048
JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Homer2 homer scaffolding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 68 OMIM
ClinVar
PMID:25816005, PMID:30047143 NCBI chr 7:81,600,481...81,706,925
Ensembl chr 7:81,600,481...81,707,527
JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitl kit ligand ISO ClinVar Annotator: match by term: DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC OMIM
ClinVar
PMID:26522471 NCBI chr10:100,015,615...100,100,416
Ensembl chr10:100,015,630...100,100,416
JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1a LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 7 OMIM
ClinVar
PMID:29754270 NCBI chr 1:167,688,230...167,848,741
Ensembl chr 1:167,689,237...167,848,741
JBrowse link
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 70 ClinVar
OMIM
PMID:25741868, PMID:26196677 NCBI chr 6:88,883,474...88,898,780
Ensembl chr 6:88,883,474...88,898,780
JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 71 ClinVar
OMIM
PMID:25741868, PMID:27657680 NCBI chr 9:54,365,158...54,501,866
Ensembl chr 9:54,365,158...54,501,626
JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a4 solute carrier family 44, member 4 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 72 ClinVar
OMIM
PMID:28013291 NCBI chr17:34,914,224...34,930,436
Ensembl chr17:34,914,466...34,930,436
JBrowse link
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 ClinVar
OMIM
PMID:25741868, PMID:29309402 NCBI chr10:107,514,363...107,720,098
Ensembl chr10:107,517,049...107,720,051
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 74 ClinVar
OMIM
PMID:29860631 NCBI chr 6:56,069,798...56,652,510
Ensembl chr 6:56,069,804...56,652,487
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trrap transformation/transcription domain-associated protein ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 75 OMIM
ClinVar
PMID:25741868, PMID:31231791 NCBI chr 5:144,767,737...144,859,778
Ensembl chr 5:144,767,732...144,859,778
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pls1 plastin 1 (I-isoform) ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 76 ClinVar
OMIM
PMID:25741868, PMID:30872814, PMID:31397523, PMID:31432506 NCBI chr 9:95,752,642...95,845,306
Ensembl chr 9:95,752,642...95,845,311
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP-binding cassette, sub-family C (CFTR/MRP), member 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 77 OMIM
ClinVar
PMID:31273342 NCBI chr16:14,361,453...14,474,878
Ensembl chr16:14,361,558...14,475,737
JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal dominant 9
OMIM:601369
ClinVar Annotator: match by OMIM:601369
OMIM
ClinVar
MouseDO
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 chr12:51,593,283...51,606,619
Ensembl chr12:51,593,341...51,605,771
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 ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by OMIM:614296
OMIM
ClinVar
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 5:36,966,104...36,988,982
Ensembl chr 5:36,966,104...36,989,205
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 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr11:5,569,680...5,689,617
Ensembl chr11:5,569,684...5,689,337
JBrowse link
G Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 IEA OMIM:607197 MouseDO NCBI chr 6:83,743,017...83,758,855
Ensembl chr 6:83,742,990...83,758,855
JBrowse link
G Cdh23 cadherin 23 (otocadherin) ISO DNA:missense mutations:multiple RGD PMID:17850630 RGD:8662281 NCBI chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr17:44,134,762...44,280,169
Ensembl chr17:44,188,584...44,280,172
Ensembl chr17:44,188,584...44,280,172
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by null ClinVar PMID:10587579 NCBI chr 4:127,325,235...127,330,836
Ensembl chr 4:127,325,235...127,330,844
JBrowse link
G Gpsm2 G-protein signalling modulator 2 (AGS3-like, C. elegans) ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20602914, PMID:22578326 NCBI chr 3:108,678,270...108,722,331
Ensembl chr 3:108,678,638...108,722,309
JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO 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 chr18:77,281,658...77,442,932
Ensembl chr18:77,281,958...77,442,930
JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr15:77,760,585...77,842,175
Ensembl chr15:77,760,587...77,842,175
JBrowse link
G Otof otoferlin IAGP
ISO
DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar PMID:27082237, PMID:17967520 RGD:9479154 NCBI chr 5:30,367,066...30,462,730
Ensembl chr 5:30,367,062...30,461,932
JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868, PMID:25960145, PMID:28492532 NCBI chr 7:29,003,340...29,125,179
Ensembl chr 7:29,003,344...29,125,179
JBrowse link
G Slc26a4 solute carrier family 26, member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr12:31,519,814...31,560,055
Ensembl chr12:31,519,827...31,559,969
JBrowse link
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 100 OMIM
ClinVar
PMID:15538632, PMID:29590114 NCBI chr 1:97,706,043...97,770,411
Ensembl chr 1:97,706,048...97,770,411
JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grxcr2 glutaredoxin, cysteine rich 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 101 ClinVar
OMIM
PMID:24619944 NCBI chr18:41,985,323...41,999,049
Ensembl chr18:41,985,323...41,999,049
JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 102 ClinVar
OMIM
PMID:24033266, PMID:24741995, PMID:25741868 NCBI chr 6:137,477,245...137,649,397
Ensembl chr 6:137,477,245...137,654,876
JBrowse link
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 103 ClinVar
OMIM
PMID:24033266, PMID:24781754, PMID:25741868, PMID:28492532 NCBI chr17:44,134,762...44,280,169
Ensembl chr17:44,188,584...44,280,172
Ensembl chr17:44,188,584...44,280,172
JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripor2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar
OMIM
PMID:24958875 NCBI chr13:24,501,524...24,733,806
Ensembl chr13:24,501,525...24,733,816
JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 ClinVar PMID:28492532 NCBI chr 6:137,477,245...137,649,397
Ensembl chr 6:137,477,245...137,654,876
JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 ClinVar
OMIM
PMID:26282398, PMID:28281779 NCBI chr 7:141,338,911...141,363,020
Ensembl chr 7:141,338,880...141,363,020
JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 107 ClinVar
OMIM
PMID:26881968 NCBI chr11:116,078,571...116,086,995
Ensembl chr11:116,078,573...116,086,995
JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ror1 receptor tyrosine kinase-like orphan receptor 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 108 ClinVar
OMIM
PMID:27162350 NCBI chr 4:100,095,791...100,444,806
Ensembl chr 4:100,095,791...100,444,765
JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrp1 epithelial splicing regulatory protein 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 109 ClinVar
OMIM
PMID:25741868, PMID:29107558 NCBI chr 4:11,331,933...11,386,783
Ensembl chr 4:11,331,933...11,386,783
JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 110 OMIM
ClinVar
PMID:25741868, PMID:29449721 NCBI chr12:51,593,283...51,606,619
Ensembl chr12:51,593,341...51,605,771
JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 111 ClinVar
OMIM
PMID:28492532, PMID:29961571, PMID:29982980 NCBI chr 9:45,042,344...45,054,043
Ensembl chr 9:45,039,799...45,054,015
JBrowse link
autosomal recessive nonsyndromic deafness 112 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 112 ClinVar
OMIM
PMID:24312468 NCBI chr13:100,017,994...100,104,090
Ensembl chr13:100,017,994...100,104,070
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 carcinoembryonic antigen-related cell adhesion molecule 16 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 113 OMIM
ClinVar
PMID:29703829 NCBI chr 7:19,852,097...19,871,426
Ensembl chr 7:19,852,097...19,861,299
JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 114 OMIM
ClinVar
PMID:25741868, PMID:30610177 NCBI chr11:61,653,321...61,672,777
Ensembl chr11:61,653,265...61,672,784
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 spinster homolog 2 ISO OMIM NCBI chr11:72,451,638...72,489,976
Ensembl chr11:72,451,638...72,489,904
JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of OMIM
ClinVar
PMID:15829536, PMID:27535533, PMID:28492532 NCBI chr 6:113,743,831...114,042,613
Ensembl chr 6:113,743,831...114,042,613
JBrowse link
G Cdh23 cadherin 23 (otocadherin) ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 12
OMIM:601386
ClinVar Annotator: match by OMIM:601386
OMIM
ClinVar
MouseDO
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 chr10:60,302,748...60,696,513
Ensembl chr10:60,302,748...60,696,490
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by null
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 chr10:60,399,493...60,403,559
Ensembl chr10:60,399,726...60,403,559
JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:18429043, PMID:24033266, PMID:24416283, PMID:25741868, PMID:28492532 NCBI chr10:60,277,628...60,302,600
Ensembl chr10:60,277,627...60,302,597
JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gipc3 GIPC PDZ domain containing family, member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 15
ClinVar Annotator: match by OMIM:601869
OMIM
CTD
ClinVar
PMID:9286457, PMID:17690910, PMID:21326233, PMID:21660509, PMID:24033266, PMID:25741868, PMID:26467025 NCBI chr10:81,335,262...81,343,620
Ensembl chr10:81,335,265...81,343,266
JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel, sperm associated 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802, PMID:21681106, PMID:25741868, PMID:26011646 NCBI chr 2:121,391,633...121,414,598
Ensembl chr 2:121,392,631...121,413,792
JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1, ubiquitous ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 2:121,357,773...121,363,737
Ensembl chr 2:121,357,714...121,363,737
JBrowse link
G Strc stereocilin ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 16
OMIM:603720
ClinVar Annotator: match by OMIM:603720
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
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 chr 2:121,363,248...121,381,370
Ensembl chr 2:121,363,728...121,387,168
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:10973247, PMID:10973248, PMID:11139240, PMID:11239869, PMID:11810303, 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 chr 7:46,195,350...46,238,490
Ensembl chr 7:46,195,350...46,238,503
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
IEA
IMP
ClinVar Annotator: match by term: Deafness, autosomal recessive 18A
OMIM:602092
OMIM
ClinVar
MouseDO
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 chr 7:46,195,350...46,238,490
Ensembl chr 7:46,195,350...46,238,503
JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otog otogelin ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 18b
OMIM:614945
ClinVar Annotator: match by OMIM:614945
OMIM
ClinVar
MouseDO
PMID:10655058, PMID:23122587, PMID:24033266, PMID:25741868, PMID:28050010, PMID:28492532, PMID:29196752, PMID:29907799 NCBI chr 7:46,240,987...46,311,434
Ensembl chr 7:46,240,987...46,311,434
JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar PMID:15994881, PMID:17041943, PMID:18324688, PMID:20236118, PMID:28492532 NCBI chr14:57,275,034...57,398,483
Ensembl chr14:57,274,993...57,398,529
JBrowse link
G Eef1akmt1 EEF1A alpha lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,549,595...57,571,582
Ensembl chr14:57,549,597...57,571,612
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,034,460...57,058,030
Ensembl chr14:57,034,460...57,058,100
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO
IEA
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
OMIM:220290
ClinVar Annotator: match by OMIM:220290
OMIM
ClinVar
MouseDO
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 chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3
OMIM
ClinVar
PMID:19050930, PMID:25741868, PMID:28492532 NCBI chr 4:127,325,235...127,330,836
Ensembl chr 4:127,325,235...127,330,844
JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707, PMID:25333454, PMID:25741868 NCBI chr 4:127,341,109...127,354,139
Ensembl chr 4:127,351,086...127,354,081
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
OMIM:220290
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6, UMLS MESH term: Deafness, Digenic, Gjb2-Gjb6
OMIM
ClinVar
MouseDO
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 chr14:57,123,301...57,133,611
Ensembl chr14:57,123,303...57,133,611
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,424,064...57,517,936
Ensembl chr14:57,424,062...57,517,936
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,524,829...57,543,166
Ensembl chr14:57,524,777...57,543,166
JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,577,521...57,668,232
Ensembl chr14:57,577,521...57,665,430
JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:2706105, PMID:2956987, PMID:8789457, PMID:9139825, PMID:9285800, 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 chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b OMIM
ClinVar
PMID:11807148, PMID:12172394, PMID:12885339, PMID:14571368, PMID:15638823, PMID:15994881, PMID:16547895, PMID:16950989, PMID:17041943, PMID:18324688, PMID:22106692, PMID:25262649, PMID:25741868, PMID:28492532, PMID:28501645 NCBI chr14:57,123,301...57,133,611
Ensembl chr14:57,123,303...57,133,611
JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 2
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
OMIM:600060
ClinVar Annotator: match by OMIM:600060
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
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 chr 7:98,051,054...98,119,522
Ensembl chr 7:98,051,060...98,119,524
JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 21
ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21
OMIM
ClinVar
PMID: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 chr 9:42,329,622...42,401,690
Ensembl chr 9:42,329,619...42,399,929
JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otoa otoancorin ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 22
OMIM:607039
ClinVar Annotator: match by OMIM:607039
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
PMID:11972037, PMID:19888295, PMID:23173898, PMID:23690975, PMID:24033266, PMID:25373420, PMID:25741868, PMID:26434960, PMID:30740825, PMID:30828794 NCBI chr 7:121,083,424...121,163,093
Ensembl chr 7:121,081,650...121,163,097
JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin 15 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 23
OMIM:609533
ClinVar Annotator: match by OMIM:609533
OMIM
ClinVar
MouseDO
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 chr10:73,096,277...74,649,831
Ensembl chr10:73,099,342...74,649,737
JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rdx radixin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 24
ClinVar Annotator: match by OMIM:611022
OMIM
ClinVar
PMID:17226784, PMID:19215054, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27231709, PMID:28492532 NCBI chr 9:52,047,150...52,088,738
Ensembl chr 9:52,047,173...52,100,463
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, cysteine rich 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 25
ClinVar Annotator: match by OMIM:613285
OMIM
ClinVar
PMID:20137774, PMID:20137778, PMID:24033266, PMID:25741868, PMID:25802247, PMID:26467025, PMID:28492532 NCBI chr 5:68,031,835...68,166,398
Ensembl chr 5:68,031,835...68,166,398
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 growth factor receptor bound protein 2-associated protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 ClinVar
OMIM
PMID:11101839, PMID:25741868, PMID:29408807 NCBI chr 8:80,764,431...80,880,519
Ensembl chr 8:80,764,438...80,880,519
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 triple functional domain (PTPRF interacting) ISO 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 chr15:27,730,649...28,025,848
Ensembl chr15:27,730,651...28,025,848
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28
ClinVar Annotator: match by OMIM:609823
OMIM
ClinVar
PMID:16385457, PMID:16385458, PMID:23967202, PMID:24033266, PMID:25741868, PMID:27014650, PMID:28492532 NCBI chr15:78,947,724...79,005,869
Ensembl chr15:78,947,724...79,005,869
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 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 29
OMIM:614035
ClinVar Annotator: match by OMIM:614035
OMIM
ClinVar
MouseDO
PMID:11163249, PMID:15880785, PMID:22246673, PMID:23590985, PMID:23991001, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26969326, PMID:27838790, PMID:28492532 NCBI chr16:93,919,031...94,008,837
Ensembl chr16:93,919,031...94,008,837
JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15 myosin XV ISO
IEA
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3
ClinVar Annotator: match by term: Deafness, autosomal recessive 3
OMIM:600316
ClinVar Annotator: match by OMIM:600316
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
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 chr11:60,469,339...60,528,369
Ensembl chr11:60,469,339...60,528,369
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 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 30
OMIM:607101
ClinVar Annotator: match by OMIM:607101
ClinVar Annotator: match by null
OMIM
ClinVar
MouseDO
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 chr 2:22,227,503...22,618,252
Ensembl chr 2:22,227,503...22,618,252
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 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 31
OMIM:607084
ClinVar Annotator: match by OMIM:607084
OMIM
ClinVar
MouseDO
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 4:63,414,908...63,496,083
Ensembl chr 4:63,414,910...63,495,991
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 CDC14 cell division cycle 14A ISO 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 3:116,272,553...116,428,741
Ensembl chr 3:116,272,553...116,428,745
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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 35
ClinVar Annotator: match by OMIM:608565
OMIM
ClinVar
PMID:12529709, PMID:18179891, PMID:22951369, PMID:23767834, PMID:24033266, PMID:25342930, PMID:25741868, PMID:26467025, PMID:28492532, PMID:29636544 NCBI chr12:86,361,117...86,521,628
Ensembl chr12:86,361,117...86,521,628
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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement
ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9763424, PMID:15286153, PMID:15930085, PMID:18973245, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29572253 NCBI chr 4:152,120,331...152,152,414
Ensembl chr 4:152,120,331...152,152,371
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 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 37
OMIM:607821
ClinVar Annotator: match by OMIM:607821
OMIM
ClinVar
MouseDO
PMID:11167014, PMID:12687499, PMID:18212818, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532 NCBI chr 9:80,164,976...80,311,729
Ensembl chr 9:80,165,031...80,311,729
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 ISO
IEA
OMIM:608265
ClinVar Annotator: match by term: Deafness, autosomal recessive 39
ClinVar Annotator: match by OMIM:608265
DNA:deletions,mutation:intron,exon:
OMIM
MouseDO
ClinVar
PMID:18564920, PMID:19576567, PMID:24033266, PMID:25741868, PMID:28492532, PMID:19576567 RGD:8548545 NCBI chr 5:16,553,495...16,619,439
Ensembl chr 5:16,553,495...16,620,152
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 ISO OMIM NCBI chr11:34,204,341...34,208,089
Ensembl chr11:34,204,338...34,208,089
JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO 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 1:172,341,210...172,374,085
Ensembl chr 1:172,341,210...172,374,085
JBrowse link
G Lmna lamin A ISO ClinVar Annotator: match by term: Dilated vestibular aqueduct ClinVar PMID:15205219, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26602028, PMID:28492532 NCBI chr 3:88,481,148...88,509,932
Ensembl chr 3:88,480,147...88,509,956
JBrowse link
G Slc26a4 solute carrier family 26, member 4 ISO
IMP
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)
DNA:missense mutations, insertions, snp:multiple (human)
OMIM
ClinVar
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:11317356, PMID:18167283, PMID:21965328, PMID:19509082 RGD:7421508, RGD:7411671, RGD:7411556, RGD:7411543 NCBI chr12:31,519,814...31,560,055
Ensembl chr12:31,519,827...31,559,969
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 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 42
OMIM:609646
ClinVar Annotator: match by OMIM:609646
OMIM
ClinVar
MouseDO
PMID:15641023, PMID:21255762, PMID:24033266, PMID:25741868 NCBI chr16:36,693,978...36,726,804
Ensembl chr16:36,693,978...36,726,804
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 ISO ClinVar Annotator: match by OMIM:610154 OMIM
ClinVar
PMID:15583425, PMID:24482543, PMID:24824130 NCBI chr11:7,063,433...7,178,506
Ensembl chr11:7,063,489...7,178,506
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 ISO
IEA
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 48
OMIM:609439
ClinVar Annotator: match by OMIM:609439
OMIM
CTD
ClinVar
MouseDO
PMID:23023331, PMID:25741868, PMID:26416264 NCBI chr 9:54,544,794...54,560,190
Ensembl chr 9:54,544,794...54,560,218
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 (membrane-associating) domain containing 2 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 49
ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49
OMIM:610153
ClinVar Annotator: match by OMIM:610153
OMIM
ClinVar
MouseDO
PMID:17186462, PMID:18084694, PMID:23979167, PMID:24033266, PMID:25652404, PMID:25741868, PMID:25885414, PMID:26467025, PMID:28492532 NCBI chr13:100,595,957...100,616,971
Ensembl chr13:100,595,957...100,616,971
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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 53
ClinVar Annotator: match by OMIM:609706
OMIM
ClinVar
PMID:16033917, PMID:23967202, PMID:24033266, PMID:25633957, PMID:25741868 NCBI chr17:34,038,919...34,066,684
Ensembl chr17:34,039,437...34,066,685
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 ISO 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 chr19:45,026,907...45,058,633
Ensembl chr19:45,026,906...45,045,717
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 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 59
OMIM:610220
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:610220
OMIM
ClinVar
MouseDO
PMID:16804542, PMID:17301963, PMID:17329413, PMID:17373699, PMID:17718865, PMID:21935370, PMID:23804846, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 2:76,650,273...76,658,554
Ensembl chr 2:76,648,476...76,658,556
JBrowse link
G Prkra protein kinase, interferon inducible double stranded RNA dependent activator ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr 2:76,609,215...76,648,220
Ensembl chr 2:76,629,898...76,648,015
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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 6
ClinVar Annotator: match by OMIM:600971
OMIM
ClinVar
PMID:8593615, PMID:12145746, PMID:19438934, PMID:24033266, PMID:24875298, PMID:25741868, PMID:28492532 NCBI chr 9:110,865,687...110,880,073
Ensembl chr 9:110,865,711...110,880,113
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 ISO 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 5:21,809,001...21,865,604
Ensembl chr 5:21,810,655...21,865,604
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 C subunit 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 7:101,881,300...101,901,849
Ensembl chr 7:101,863,715...101,901,849
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr 7:101,933,977...102,014,959
Ensembl chr 7:101,934,111...102,014,964
JBrowse link
G Tomt transmembrane O-methyltransferase ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 63
OMIM:611451
ClinVar Annotator: match by OMIM:611451
OMIM
ClinVar
MouseDO
PMID:17211611, PMID:18794526, PMID:18953341, PMID:22908982, PMID:23053991, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 7:101,899,803...101,906,407
Ensembl chr 7:101,898,370...101,906,359
JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2a doublecortin domain containing 2a ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 66
DNA:missense mutation:cds:p.Q424P (human)
ClinVar Annotator: match by OMIM:610212
OMIM
ClinVar
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 chr13:25,055,273...25,210,706
Ensembl chr13:25,056,004...25,210,706
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 lipoma HMGIC fusion partner-like 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 67
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:610265
OMIM
ClinVar
CTD
PMID:16459341, PMID:16752389, PMID:24033266, PMID:25741868, PMID:27148795, PMID:28492532, PMID:30177809 NCBI chr17:28,575,369...28,583,593
Ensembl chr17:28,575,641...28,585,679
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 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 68
OMIM:610419
ClinVar
OMIM
MouseDO
PMID:16703383, PMID:24824130, PMID:26805784 NCBI chr 9:20,965,952...20,976,793
Ensembl chr 9:20,962,361...20,976,781
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 gene family 1 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 7
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11
OMIM:600974
ClinVar Annotator: match by OMIM:600974
OMIM
ClinVar
MouseDO
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 chr19:20,783,456...21,037,126
Ensembl chr19:20,783,458...20,954,202
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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 70
ClinVar Annotator: match by OMIM:614934
OMIM
ClinVar
PMID:23084290, PMID:25741868 NCBI chr11:29,130,129...29,161,827
Ensembl chr11:29,130,744...29,161,828
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 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 74
OMIM:613718
ClinVar Annotator: match by OMIM:613718
OMIM
ClinVar
MouseDO
PMID:19650862, PMID:21185009, PMID:25741868 NCBI chr10:120,781,100...120,899,011
Ensembl chr10:120,781,096...120,899,101
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 ISO ClinVar Annotator: match by OMIM:615540 OMIM
ClinVar
PMID:23348741 NCBI chr 7:30,314,816...30,319,045
Ensembl chr 7:30,314,807...30,319,046
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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77
ClinVar Annotator: match by OMIM:613079
OMIM
ClinVar
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 chr18:77,281,658...77,442,932
Ensembl chr18:77,281,958...77,442,930
JBrowse link
G Ush2a usherin ISO 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 1:188,262,838...188,965,497
Ensembl chr 1:188,262,023...188,965,041
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 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 79
OMIM:613307
ClinVar Annotator: match by OMIM:613307
OMIM
ClinVar
MouseDO
PMID:20170898, PMID:20170899, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 2:25,262,598...25,269,886
Ensembl chr 2:25,262,618...25,269,885
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 protease, serine 3 ISO 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
OMIM
ClinVar
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 chr17:31,179,263...31,200,504
Ensembl chr17:31,179,265...31,198,977
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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 84
ClinVar Annotator: match by OMIM:613391
OMIM
ClinVar
PMID:20346435, PMID:25741868 NCBI chr10:107,514,363...107,720,098
Ensembl chr10:107,517,049...107,720,051
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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 84b
ClinVar Annotator: match by OMIM:614944
OMIM
ClinVar
PMID:23122586, PMID:24033266, PMID:25741868 NCBI chr10:107,760,530...107,912,379
Ensembl chr10:107,760,531...107,912,134
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 ISO 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 chr17:24,223,230...24,251,409
Ensembl chr17:24,222,198...24,251,484
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86
ClinVar Annotator: match by OMIM:614617
OMIM
ClinVar
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 chr17:24,175,431...24,205,562
Ensembl chr17:24,175,431...24,205,562
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/CED-12 domain containing 3 ISO
IEA
OMIM:615429
ClinVar Annotator: match by OMIM:615429
OMIM
MouseDO
ClinVar
PMID:24039609 NCBI chr 6:72,565,922...72,598,431
Ensembl chr 6:72,565,922...72,598,413
JBrowse link
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars lysyl-tRNA synthetase ISO 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 chr 8:111,993,439...112,011,354
Ensembl chr 8:111,993,443...112,011,323
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 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:25326637, PMID:28492532 NCBI chr 2:27,886,381...28,039,510
Ensembl chr 2:27,886,425...28,039,514
JBrowse link
G Igsf6 immunoglobulin superfamily, member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 7:121,064,067...121,074,581
Ensembl chr 7:121,064,067...121,074,572
JBrowse link
G Mettl9 methyltransferase like 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 7:121,032,384...121,076,835
Ensembl chr 7:121,034,445...121,078,329
JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 7:121,083,424...121,163,093
Ensembl chr 7:121,081,650...121,163,097
JBrowse link
G Otof otoferlin ISO
IEA
IAGP
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9
OMIM:601071
ClinVar Annotator: match by OMIM:601071
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)
DNA:nonsense mutation:cds:p.Y730X (human)
OMIM
ClinVar
MouseDO
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:22906306, PMID:22575033, PMID:22575033, PMID:14635104, PMID:20230791, PMID:16097006, PMID:10903124, PMID:12114484, PMID:10192385 RGD:9585724, RGD:9491826, RGD:9491826, RGD:9491386, RGD:9479161, RGD:9479157, RGD:737640, RGD:9479156, RGD:9479153 NCBI chr 5:30,367,066...30,462,730
Ensembl chr 5:30,367,062...30,461,932
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868, PMID:27082237 NCBI chr11:60,104,917...60,199,197
Ensembl chr11:60,105,013...60,199,197
JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinb6a serine (or cysteine) peptidase inhibitor, clade B, member 6a ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 91
ClinVar Annotator: match by OMIM:613453
OMIM
ClinVar
PMID:20451170, PMID:24033266, PMID:25741868 NCBI chr13:33,917,918...34,002,794
Ensembl chr13:33,917,918...34,002,794
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 ISO
IEA
ClinVar Annotator: match by term: Deafness, autosomal recessive 93
OMIM:614899
OMIM
ClinVar
MouseDO
PMID:22981119, PMID:25741868, PMID:26445815, PMID:28492532 NCBI chr19:4,081,469...4,087,340
Ensembl chr19:4,081,578...4,087,340
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)(putative) ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 OMIM
ClinVar
PMID:25741868, PMID:25807530 NCBI chr 7:96,950,839...97,064,758
Ensembl chr 7:96,951,505...97,064,758
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 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 97 OMIM
ClinVar
PMID:25941349 NCBI chr 6:17,463,349...17,573,980
Ensembl chr 6:17,463,800...17,573,980
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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 OMIM
ClinVar
PMID:22678063, PMID:27736875 NCBI chr10:77,686,108...77,886,994
Ensembl chr10:77,686,569...77,887,021
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 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 99 OMIM
ClinVar
PMID:12673573, PMID:25331638, PMID:31656313 NCBI chr11:82,388,852...82,447,621
Ensembl chr11:82,388,900...82,446,332
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 (sodium/hydrogen exchanger), member 1 ISO ClinVar Annotator: match by term: Lichtenstein-knorr syndrome OMIM
ClinVar
PMID:25205112, PMID:25741868, PMID:30018422 NCBI chr 4:133,369,711...133,423,702
Ensembl chr 4:133,369,706...133,423,702
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 cytochrome c oxidase I, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872
JBrowse link
G mt-Rnr1 12S rRNA, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024
JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938
JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf avian musculoaponeurotic fibrosarcoma oncogene homolog ISO ClinVar Annotator: match by term: Cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation
ClinVar Annotator: match by OMIM:601088
ClinVar
OMIM
PMID:8834052, PMID:8867660, PMID:12072800, PMID:17935251, PMID:25865493 NCBI chr 8:115,703,253...115,706,894
Ensembl chr 8:115,682,942...115,707,794
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 ISO ClinVar Annotator: match by term: Bart-Pumphrey syndrome
ClinVar Annotator: match by term: KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS
ClinVar Annotator: match by OMIM:149200
DNA:mutation:cds:p.N54K(human)
OMIM
ClinVar
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: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:12560944, PMID:12562518, PMID:12684873, PMID:12746422, 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: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:15656949, PMID:15666300, PMID:15700112, PMID:15855033, PMID:15952212, 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:16950989, PMID:16952406, PMID:17018967, PMID:17036313, PMID:17041943, PMID:17146393, PMID:17253936, PMID:17331080, PMID:17357124, PMID:17406097, PMID:17426645, PMID:17428550, PMID:17485979, PMID:17553572, PMID:17581693, PMID:17661817, PMID:17666888, PMID:17935238, PMID:17993581, PMID:18294064, 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: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: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:21465647, PMID:21468573, PMID:21481246, PMID:21488715, PMID:21728791, PMID:21776002, PMID:21811586, PMID:21815880, PMID:21910243, PMID:21962949, PMID:22000900, PMID:22011219, 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: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:27153395, PMID:27177978, PMID:27224056, PMID:27466889, PMID:27480936, PMID:27481527, PMID:27501294, PMID:27623246, 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:15482471 RGD:7364821 NCBI chr14:57,098,602...57,104,702
Ensembl chr14:57,098,600...57,104,702
JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory beta subunit ISO
IEA
ClinVar Annotator: match by term: Bartter disease type 4a
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
OMIM:602522
ClinVar Annotator: match by OMIM:602522
OMIM
ClinVar
MouseDO
PMID:9463315, PMID:11687798, PMID:11734858, PMID:12574213, PMID:16328537, PMID:16572343, PMID:16583241, PMID:16773427, PMID:16935888, PMID:17954364, PMID:18776122, PMID:19025784, PMID:19096086, PMID:19646679, PMID:21269598, PMID:21541222, PMID:21865213, PMID:23967202, PMID:24033266, PMID:24902942, PMID:25741868, PMID:26467025, PMID:26537508, PMID:28012523, PMID:28492532, PMID:29254190, PMID:30174009 NCBI chr 4:106,483,456...106,492,243
Ensembl chr 4:106,483,456...106,492,283
JBrowse link
Bartter disease type 4b term browser