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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:auditory system disease
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Accession:DOID:2742 term browser browse the term
Definition:Pathological processes of the ear, the hearing, and the equilibrium system of the body.
Synonyms:exact_synonym: Ear Diseases;   Otologic Disease;   Otological Disease;   Otological Diseases;   ear and mastoid disease;   ear disease;   otologic diseases
 primary_id: MESH:D004427
 alt_id: RDO:0002012
 xref: ICD10CM:H93.9;   ICD9CM:388.9;   NCI:C26757
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
auditory system disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fscn2 fascin actin-bundling protein 2, retinal ISS MouseDO NCBI chr10:109,528,307...109,540,675
Ensembl chr10:109,533,487...109,540,026
JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18925670 NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
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 chr 1:46,934,499...46,978,264
Ensembl chr 1:46,942,192...46,978,261
JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by OMIM:302905 OMIM
ClinVar
PMID:839509, PMID:22784330 NCBI chr  X:78,731,738...78,782,542
Ensembl chr  X:78,769,419...78,782,542
JBrowse link
acoustic neuroma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Artn artemin ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 5:136,759,717...136,765,036
Ensembl chr 5:136,759,717...136,762,986
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Cav1 caveolin 1 ISO RGD PMID:20881564 RGD:8661782 NCBI chr 4:44,597,123...44,630,206
Ensembl chr 4:44,597,123...44,630,200
JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO mRNA,protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864
JBrowse link
G Cyp2e1 cytochrome P450, family 2, subfamily e, polypeptide 1 ISO DNA:snp:promoter:c.-1053C>T (human) RGD PMID:12540498 RGD:1358568 NCBI chr 1:213,511,892...213,522,195
Ensembl chr 1:213,511,874...213,535,542
JBrowse link
G Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit susceptibility ISO DNA:missense mutation:cds:p.D312N (rs1799793) (human) RGD PMID:20150366 RGD:5688735 NCBI chr 1:80,293,574...80,307,334
Ensembl chr 1:80,293,566...80,307,344
JBrowse link
G Evi2a ecotropic viral integration site 2A ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr10:66,870,048...66,873,948
Ensembl chr10:66,870,067...66,873,948
JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 disease_progression ISO RGD PMID:15354013 RGD:11567268 NCBI chr16:71,265,390...71,319,046
Ensembl chr16:71,266,248...71,319,449
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO mRNA:increased expression:peripheral nerve: RGD PMID:19937367 RGD:8655552 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Igf1 insulin-like growth factor 1 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfbp3 insulin-like growth factor binding protein 3 susceptibility ISO protein:increased expression:serum: RGD PMID:21788435 RGD:8548833 NCBI chr14:87,457,647...87,465,374
Ensembl chr14:87,457,647...87,465,374
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Vestibular Schwannoma ClinVar PMID:25741868, PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nf2 neurofibromin 2 ISO protein:decreased expression:myelinated nerve: RGD PMID:20600642 RGD:8661792 NCBI chr14:84,996,905...85,088,547
Ensembl chr14:84,996,905...85,088,523
JBrowse link
G Vegfa vascular endothelial growth factor A ISO RGD PMID:14660915 RGD:8547959 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
Acute Otitis Media term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arpc4 actin related protein 2/3 complex, subunit 4 ISO mRNA, protein:increased expression:mucosa of middle ear RGD PMID:26711468 RGD:11553828 NCBI chr 4:145,330,457...145,340,985
Ensembl chr 4:145,330,457...145,340,984
JBrowse link
G Cald1 caldesmon 1 ISO mRNA, protein:decreased expression:mucosa of middle ear RGD PMID:26711468 RGD:11553828 NCBI chr 4:62,103,948...62,291,375
Ensembl chr 4:62,220,736...62,291,489
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO RGD PMID:10453785 RGD:11556224 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Dstn destrin, actin depolymerizing factor ISO mRNA, protein:increased expression:mucosa of middle ear RGD PMID:26711468 RGD:11553828 NCBI chr 3:138,024,508...138,051,304
Ensembl chr 3:138,024,508...138,051,298
JBrowse link
G Fn1 fibronectin 1 ISO RGD PMID:10453785 RGD:11556224 NCBI chr 9:78,900,111...78,969,018
Ensembl chr 9:78,900,103...78,969,078
JBrowse link
G Il17a interleukin 17A disease_progression IEP protein:increased expression:serum (rat) RGD PMID:27497403 RGD:40818299 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il22 interleukin 22 disease_progression IEP protein:increased expression:serum (rat) RGD PMID:27497403 RGD:40818299 NCBI chr 7:61,236,037...61,240,502
Ensembl chr 7:61,236,037...61,240,502
JBrowse link
G Lcp1 lymphocyte cytosolic protein 1 ISO mRNA, protein:increased expression:mucosa of middle ear RGD PMID:26711468 RGD:11553828 NCBI chr15:57,170,566...57,277,811
Ensembl chr15:57,221,292...57,277,811
JBrowse link
G Ncf2 neutrophil cytosolic factor 2 ISO mRNA, protein:increased expression:mucosa of middle ear RGD PMID:26711468 RGD:11553828 NCBI chr13:70,226,441...70,259,019
Ensembl chr13:70,226,647...70,257,576
JBrowse link
G S100a9 S100 calcium binding protein A9 ISO mRNA, protein:increased expression:mucosa of middle ear RGD PMID:26711468 RGD:11553828 NCBI chr 2:190,097,436...190,100,209
Ensembl chr 2:190,097,554...190,100,276
JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-co1 mitochondrially encoded cytochrome c oxidase I 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:5,323...6,867
Ensembl chr MT:5,323...6,867
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 chr 7:126,756,140...126,772,749
Ensembl chr 7:126,756,151...126,772,749
JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
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:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
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 ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome
ClinVar Annotator: match by term: Bosley Salih Alorainy syndrome
ClinVar Annotator: match by term: Athabaskan Brainstem Dysgenesis Syndrome
ClinVar Annotator: match by synonym: Bosley-Salih-Alorainy syndrome
DNA:mutations:cds:185delG,175-176insG,76C>T(human)
ClinVar Annotator: match by OMIM:601536
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:16155570, PMID:18412118, PMID:24239177, PMID:25741868, PMID:28492532, PMID:18412118 RGD:11553818 NCBI chr 4:82,124,358...82,127,182
Ensembl chr 4:82,125,406...82,127,066
JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome ClinVar NCBI chr 4:82,130,441...82,134,846
Ensembl chr 4:82,131,329...82,133,605
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 chr10:103,817,724...103,826,413
Ensembl chr10:103,817,704...103,826,448
JBrowse link
Auditory Perceptual Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna7 cholinergic receptor nicotinic alpha 7 subunit ISO CTD Direct Evidence: therapeutic CTD PMID:10578459 NCBI chr 1:123,897,341...124,039,263
Ensembl chr 1:123,899,657...124,039,196
JBrowse link
G Vsx1 visual system homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15051220 NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837
JBrowse link
Auriculocondylar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn1 endothelin 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
G Gnai3 G protein subunit alpha i3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:210,896,779...210,934,733
Ensembl chr 2:210,896,656...210,934,749
JBrowse link
G Plcb4 phospholipase C, beta 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Auriculocondylar syndrome
CTD
ClinVar
PMID:16114046, PMID:18314001, PMID:22560091, PMID:23315542, PMID:27007857, PMID:28328130 NCBI chr 3:128,601,163...128,971,720
Ensembl chr 3:128,756,799...128,971,746
JBrowse link
Auriculocondylar Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnai3 G protein subunit alpha i3 ISO ClinVar Annotator: match by term: Auriculocondylar syndrome 1
ClinVar Annotator: match by OMIM:602483
OMIM
ClinVar
PMID:11102934, PMID:22560091, PMID:23315542, PMID:25741868 NCBI chr 2:210,896,779...210,934,733
Ensembl chr 2:210,896,656...210,934,749
JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: Auriculocondylar syndrome 1 ClinVar PMID:16114046, PMID:18314001, PMID:22560091, PMID:23315542, PMID:27007857, PMID:28328130 NCBI chr 3:128,601,163...128,971,720
Ensembl chr 3:128,756,799...128,971,746
JBrowse link
Auriculocondylar Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: Auriculocondylar syndrome 2
ClinVar Annotator: match by OMIM:614669
OMIM
ClinVar
PMID:16114046, PMID:18314001, PMID:18680186, PMID:18686566, PMID:19152421, PMID:22286465, PMID:22560091, PMID:23315542, PMID:25741868, PMID:27007857, PMID:28328130, PMID:28492532 NCBI chr 3:128,601,163...128,971,720
Ensembl chr 3:128,756,799...128,971,746
JBrowse link
Auriculocondylar Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edn1 endothelin 1 ISO ClinVar Annotator: match by OMIM:615706 OMIM
ClinVar
PMID:12244558, PMID:23315542, PMID:24268655 NCBI chr17:22,136,814...22,143,745
Ensembl chr17:22,137,324...22,143,324
JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant, 1
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:20624953, PMID:25741868, PMID:28492532 NCBI chr15:69,928,507...70,400,077
Ensembl chr15:70,039,424...70,399,924
JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 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 8:21,922,515...21,968,495
Ensembl chr 8:21,922,515...21,968,495
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: DDOD SYNDROME, UMLS MESH term: Deafness, Congenital, and Onychodystrophy, Autosomal Dominant ClinVar
OMIM
PMID:24913193, PMID:28396750 NCBI chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
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 chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131, PMID:15845534, PMID:16222661, PMID:23967202, PMID:24033266, PMID:24082139, PMID:25741868, PMID:26284702, PMID:26346818, PMID:26467025, PMID:27393652, PMID:28492532, PMID:30311386, PMID:30828794 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO 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
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
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:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:32090102, PMID:115556849, PMID:163800907, PMID:20926451, PMID:23924173, PMID:22031297, PMID:18950394, PMID:20307501 RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr 4:145,704,779...145,948,997
Ensembl chr 4:145,703,046...146,016,325
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr18:1,537,315...1,784,260
Ensembl chr18:1,723,565...1,784,233
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 4:86,359,762...86,925,044
Ensembl chr 4:86,359,820...86,630,543
JBrowse link
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:31397523 NCBI chr 8:103,557,361...103,659,625
Ensembl chr 8:103,557,364...103,608,913
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 chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
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 chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
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 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
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 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8
ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by OMIM:601543
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:9150164, PMID:9590290, PMID:10196713, PMID:10987647, PMID:11333869, PMID:12021773, PMID:12162770, PMID:12746400, PMID:16718611, PMID:17431902, PMID:17661817, PMID:18022253, PMID:18575463, PMID:18797289, PMID:20947814, PMID:21520338, PMID:21917145, PMID:22718023, PMID:22980975, PMID:23967202, PMID:24033266, PMID:24586623, PMID:25262649, PMID:25741868, PMID:26467025, PMID:27068579, PMID:27627659, PMID:28000701, PMID:28492532, PMID:29196752, PMID:30311386, PMID:31163360 NCBI chr 8:46,603,728...46,675,658
Ensembl chr 8:46,603,728...46,675,544
JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brca1 BRCA1, DNA repair associated 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 chr10:89,394,821...89,455,093
Ensembl chr10:89,394,803...89,454,681
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13
ClinVar Annotator: match by OMIM:601868
OMIM
ClinVar
PMID:10581026, PMID:15372529, PMID:24033266, PMID:25633957, PMID:25741868 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 15
ClinVar Annotator: match by 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 chr18:36,713,869...36,716,461
Ensembl chr18:36,713,869...36,716,461
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 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17
ClinVar Annotator: match by term: Deafness, autosomal dominant 17
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 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 chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: 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 chr10:109,518,429...109,521,288
Ensembl chr 3:75,643,054...75,644,954
Ensembl chr10:75,643,054...75,644,954
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 22
ClinVar Annotator: match by OMIM:606346
OMIM
ClinVar
PMID:11167014, PMID:11468689, PMID:12687499, PMID:15123708, PMID:18212818, PMID:18348273, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532 NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 23
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 chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 25 OMIM
ClinVar
PMID:18674745, PMID:23967202, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 7:30,215,231...30,274,993
Ensembl chr 7:30,216,104...30,274,984
JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISS OMIM:605583 MouseDO NCBI chr12:47,698,915...47,737,902
Ensembl chr12:47,698,947...47,737,902
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 chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
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 chr 7:76,058,623...76,197,360
Ensembl chr 7:76,059,386...76,197,856
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 5:139,625,783...139,677,300
Ensembl chr 5:139,627,576...139,677,300
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 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
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 chr10:45,884,324...45,918,290
Ensembl chr10:45,893,018...45,918,254
JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36
ClinVar Annotator: match by OMIM:606705
OMIM
ClinVar
PMID:11850618, PMID:15354000, PMID:16134132, PMID:17250663, PMID:18616530, PMID:19180119, PMID:19187973, PMID:21250555, PMID:22607986, PMID:24033266, PMID:24416283, PMID:24827932, PMID:25388789, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 OMIM
ClinVar
PMID:30245514 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
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:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:31370293, PMID:31569309, PMID:31620696, PMID:31992338, PMID:32090102, PMID:115556849, PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
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 1:189,944,895...189,960,069
Ensembl chr 1:189,944,895...189,960,073
JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2rx2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by OMIM:608224 OMIM
ClinVar
PMID:12161595, PMID:23345450, PMID:24211385 NCBI chr12:52,397,666...52,401,005
Ensembl chr12:52,397,792...52,401,015
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 chr11:76,742,179...76,804,695
Ensembl chr11:76,747,865...76,804,510
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 chr 7:71,000,299...71,019,386
Ensembl chr 7:71,004,417...71,019,372
JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISS OMIM:600652 MouseDO NCBI chr 1:80,773,819...80,783,898
Ensembl chr 1:80,773,819...80,783,898
JBrowse link
G Myh14 myosin heavy chain 14 ISO OMIM NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4b
ClinVar Annotator: match by OMIM:614614
OMIM
ClinVar
PMID:7655461, PMID:21368133, PMID:24033266, PMID:25589040, PMID:28492532 NCBI chr 1:80,773,819...80,783,898
Ensembl chr 1:80,773,819...80,783,898
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 4:79,934,075...79,999,678
Ensembl chr 4:79,934,887...79,989,572
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 4:57,463,366...57,463,471
Ensembl chr 4:57,463,366...57,463,471
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 chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
JBrowse link
autosomal dominant nonsyndromic deafness 52 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU class 4 homeobox 3 ISO OMIM NCBI chr18:36,713,869...36,716,461
Ensembl chr18:36,713,869...36,716,461
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pappa1 pappalysin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106, PMID:23936043 NCBI chr 5:80,919,932...81,153,904
Ensembl chr 5:80,920,568...81,150,940
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 5:79,789,686...79,874,555
Ensembl chr 5:79,789,671...79,874,671
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106, PMID:23936043 NCBI chr 5:79,664,779...79,691,547
Ensembl chr 5:79,664,765...79,691,258
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: DEAFNESS, AUTOSOMAL DOMINANT 38
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6
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:25497598, PMID:25741868, PMID:25895475, PMID:26467025, PMID:27185633, PMID:27617222, PMID:28432734, PMID:28492532 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
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 chr12:38,490,230...38,503,344
Ensembl chr12:38,490,230...38,503,330
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 chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd164 CD164 molecule ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 66 ClinVar
OMIM
PMID:26197441 NCBI chr20:46,250,418...46,261,994
Ensembl chr20:46,250,363...46,261,994
JBrowse link
autosomal dominant nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osbpl2 oxysterol binding protein-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 67 OMIM
ClinVar
PMID:25759012 NCBI chr 3:175,493,650...175,538,965
Ensembl chr 3:175,493,698...175,538,963
JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 68 OMIM
ClinVar
PMID:25816005, PMID:30047143 NCBI chr 1:143,443,300...143,535,579
Ensembl chr 1:143,443,300...143,535,583
JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC OMIM
ClinVar
PMID:26522471 NCBI chr 7:42,269,784...42,351,054
Ensembl chr 7:42,269,784...42,351,054
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 chr13:85,916,753...86,061,534
Ensembl chr13:85,918,252...86,061,176
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 4:120,825,699...120,840,221
Ensembl chr 4:120,825,699...120,840,111
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 8:58,932,575...59,077,788
Ensembl chr 8:58,932,580...59,077,690
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 chr20:4,593,389...4,609,641
Ensembl chr20:4,593,389...4,609,631
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 chr 7:49,763,657...50,034,932
Ensembl chr 7:49,763,657...50,034,932
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 4:86,359,762...86,925,044
Ensembl chr 4:86,359,820...86,630,543
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 chr12:11,537,950...11,627,563
Ensembl chr12:11,537,950...11,627,563
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 76 ClinVar
OMIM
PMID:25741868, PMID:30872814, PMID:31397523, PMID:31432506 NCBI chr 8:103,557,361...103,659,625
Ensembl chr 8:103,557,364...103,608,913
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 77 OMIM
ClinVar
PMID:31273342 NCBI chr10:549,537...672,235
Ensembl chr10:549,883...672,196
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO OMIM NCBI chr18:52,917,124...52,985,281
Ensembl chr18:52,917,124...52,985,261
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 ClinVar Annotator: match by term: Deafness, autosomal dominant 9
ClinVar Annotator: match by OMIM:601369
OMIM
ClinVar
PMID:8817345, PMID:9806553, PMID:9931344, PMID:10400989, PMID:11332404, PMID:12928864, PMID:14512963, PMID:16151338, PMID:16261627, PMID:16481359, PMID:18312449, PMID:19161137, PMID:22534022, PMID:24033266, PMID:24662630, PMID:25230692, PMID:25741868, PMID:25780252, PMID:28492532, PMID:28733840 NCBI chr 6:72,359,702...72,373,710
Ensembl chr 6:72,359,791...72,373,695
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 chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
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 chr14:85,814,809...85,931,577 JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISS OMIM:607197 MouseDO NCBI chr 4:115,417,100...115,435,754
Ensembl chr 4:115,416,580...115,437,206
JBrowse link
G Cdh23 cadherin-related 23 ISO DNA:missense mutations:multiple RGD PMID:17850630 RGD:8662281 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 9:19,121,676...19,372,673
Ensembl chr 9:19,121,677...19,372,673
JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by null ClinVar PMID:10587579 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20602914, PMID:22578326 NCBI chr 2:211,480,120...211,528,096
Ensembl chr 2:211,480,400...211,527,919
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 chr18:73,645,365...73,812,271
Ensembl chr18:73,645,907...73,812,271
JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Otof otoferlin 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 6:27,328,343...27,424,864
Ensembl chr 6:27,328,406...27,424,864
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 chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
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 9:111,232,967...111,249,613
Ensembl chr 9:111,220,858...111,286,185
JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 101 ClinVar
OMIM
PMID:24619944 NCBI chr18:36,308,925...36,334,643
Ensembl chr18:36,308,925...36,322,320
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 4:171,475,155...171,645,620
Ensembl chr 4:171,475,567...171,591,882
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 chr 9:19,121,676...19,372,673
Ensembl chr 9:19,121,677...19,372,673
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 chr17:42,324,594...42,549,907
Ensembl chr17:42,324,594...42,422,053
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 4:171,475,155...171,645,620
Ensembl chr 4:171,475,567...171,591,882
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 1:214,327,992...214,353,466
Ensembl chr 1:214,328,071...214,353,461
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 chr10:104,629,563...104,637,906
Ensembl chr10:104,630,573...104,637,823
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 5:118,892,874...119,239,528
Ensembl chr 5:119,097,715...119,241,733
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 5:24,576,988...24,631,758
Ensembl chr 5:24,576,991...24,631,698
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 chr 6:72,359,702...72,373,710
Ensembl chr 6:72,359,791...72,373,695
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 8:49,342,067...49,353,080
Ensembl chr 8:49,342,067...49,353,080
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 chr 2:30,248,458...30,340,211
Ensembl chr 2:30,250,633...30,340,208
JBrowse link
autosomal recessive nonsyndromic deafness 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 113 OMIM
ClinVar
PMID:29703829 NCBI chr 1:80,773,819...80,783,898
Ensembl chr 1:80,773,819...80,783,898
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 chr10:47,930,633...47,949,774
Ensembl chr10:47,930,633...47,949,773
JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spns2 sphingolipid transporter 2 ISO OMIM NCBI chr10:59,010,428...59,049,482
Ensembl chr10:59,010,428...59,049,482
JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of OMIM
ClinVar
PMID:15829536, PMID:22047666, PMID:25741868, PMID:27535533, PMID:28492532 NCBI chr 4:145,704,779...145,948,997
Ensembl chr 4:145,703,046...146,016,325
JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by OMIM:601386
OMIM
ClinVar
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:18381613, 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:24164807, 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:30367262, PMID:30718709 NCBI chr20:29,857,018...30,263,758
Ensembl chr20:29,857,637...29,990,111
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G LOC100361018 rCG22048-like 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 chr20:29,947,427...29,954,869
Ensembl chr20:29,951,637...29,952,023
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 chr20:29,831,302...29,856,876
Ensembl chr20:29,831,314...29,856,875
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 chr 7:11,245,160...11,253,080
Ensembl chr 7:11,245,875...11,250,708
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 3:113,357,361...113,379,498
Ensembl chr 3:113,357,365...113,376,751
JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 3:113,318,559...113,324,459
Ensembl chr 3:113,318,563...113,324,461
JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16
ClinVar Annotator: match by OMIM:603720
ClinVar Annotator: match by null
OMIM
ClinVar
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 3:113,324,403...113,343,513
Ensembl chr 3:113,324,698...113,342,675
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 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18A OMIM
ClinVar
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 1:102,207,096...102,256,779
Ensembl chr 1:102,207,096...102,255,459
JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otog otogelin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18b
ClinVar Annotator: match by OMIM:614945
OMIM
ClinVar
PMID:10655058, PMID:23122587, PMID:24033266, PMID:25741868, PMID:28050010, PMID:28492532, PMID:29196752, PMID:29907799 NCBI chr 1:102,258,124...102,327,201
Ensembl chr 1:102,258,124...102,327,201
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 chr15:37,543,727...37,663,586
Ensembl chr15:37,543,727...37,663,584
JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,813,115...37,830,932
Ensembl chr15:37,813,115...37,831,031
JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,298,607...37,325,370
Ensembl chr15:37,299,738...37,325,178
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3
ClinVar Annotator: match by OMIM:220290
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: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:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31162818, PMID:31163360, PMID:31195736, PMID:31370293, PMID:31569309, PMID:31620696, PMID:31992338, PMID:32090102, PMID:95239365, PMID:102185257, PMID:115556849, PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
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 5:145,416,343...145,421,122
Ensembl chr 5:145,416,343...145,418,992
JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6, UMLS MESH term: Deafness, Digenic, Gjb2-Gjb6
OMIM
ClinVar
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 chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,690,417...37,786,855
Ensembl chr15:37,691,345...37,784,924
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,790,211...37,807,653
Ensembl chr15:37,790,141...37,807,660
JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:37,835,580...37,926,715
Ensembl chr15:37,835,580...37,926,715
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:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:32090102, PMID:115556849, PMID:163800907 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 2
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
ClinVar Annotator: match by OMIM:600060
ClinVar Annotator: match by null
OMIM
ClinVar
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 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
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 8:46,603,728...46,675,658
Ensembl chr 8:46,603,728...46,675,544
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 22
ClinVar Annotator: match by OMIM:607039
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:11972037, PMID:19888295, PMID:23173898, PMID:23690975, PMID:24033266, PMID:25373420, PMID:25741868, PMID:26434960, PMID:30740825, PMID:30828794 NCBI chr 1:191,029,861...191,097,524
Ensembl chr 1:191,029,861...191,097,290
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 related 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 23
ClinVar Annotator: match by OMIM:609533
OMIM
ClinVar
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 chr20:14,952,213...15,334,745
Ensembl chr20:14,952,213...15,334,745
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 8:56,570,728...56,612,851
Ensembl chr 8:56,585,396...56,610,612
JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 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 chr14:41,663,688...41,787,331
Ensembl chr14:41,663,688...41,786,084
JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gab1 GRB2-associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 ClinVar
OMIM
PMID:11101839, PMID:25741868, PMID:29408807 NCBI chr19:30,794,290...30,903,819
Ensembl chr19:30,794,571...30,902,008
JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor 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 chr 2:80,471,398...80,769,313
Ensembl chr 2:80,473,202...80,667,481
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 chr 7:120,173,892...120,237,145
Ensembl chr 7:120,176,530...120,230,420
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 29
ClinVar Annotator: match by OMIM:614035
OMIM
ClinVar
PMID:11163249, PMID:15880785, PMID:22246673, PMID:23590985, PMID:23991001, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26969326, PMID:27838790, PMID:28492532 NCBI chr11:34,132,581...34,142,813
Ensembl chr11:34,132,581...34,142,753
JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3
ClinVar Annotator: match by term: Deafness, autosomal recessive 3
ClinVar Annotator: match by OMIM:600316
ClinVar Annotator: match by null
OMIM
ClinVar
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 chr10:46,840,098...46,897,362
Ensembl chr10:46,840,113...46,896,054
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 30
ClinVar Annotator: match by OMIM:607101
ClinVar Annotator: match by null
OMIM
ClinVar
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 chr17:88,952,635...89,167,538
Ensembl chr17:88,963,981...89,167,018
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 31
ClinVar Annotator: match by OMIM:607084
OMIM
ClinVar
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 5:79,235,541...79,317,206
Ensembl chr 5:79,234,950...79,317,206
JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc14a cell division cycle 14A 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 2:219,302,577...219,458,345
Ensembl chr 2:219,302,577...219,458,271
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 chr 6:110,360,940...110,458,406
Ensembl chr 6:110,410,141...110,455,906
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 5:169,293,356...169,331,338
Ensembl chr 5:169,293,904...169,331,163
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 37
ClinVar Annotator: match by OMIM:607821
OMIM
ClinVar
PMID:11167014, PMID:12687499, PMID:18212818, PMID:24033266, PMID:25741868, PMID:26445815, PMID:26467025, PMID:28492532 NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 39
ClinVar Annotator: match by OMIM:608265
DNA:deletions,mutation:intron,exon:
OMIM
ClinVar
PMID:18564920, PMID:19576567, PMID:24033266, PMID:25741868, PMID:28492532, PMID:19576567 RGD:8548545 NCBI chr 4:15,435,460...15,505,377
Ensembl chr 4:15,433,295...15,505,362
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 chr10:19,160,566...19,164,505
Ensembl chr10:19,160,582...19,164,505
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 chr13:90,722,945...90,753,338
Ensembl chr13:90,723,092...90,752,581
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Dilated vestibular aqueduct ClinVar PMID:15205219, PMID:24033266, PMID:25741868, PMID:26467025, PMID:26602028, PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO 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: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: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: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: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:27771369, PMID:28000701, PMID:28273078, PMID:28444304, PMID:28492532, PMID:28576516, 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:30760291, PMID:31599023, PMID:11317356, PMID:18167283, PMID:21965328, PMID:19509082 RGD:7421508, RGD:7411671, RGD:7411556, RGD:7411543 NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 42
ClinVar Annotator: match by OMIM:609646
OMIM
ClinVar
PMID:15641023, PMID:21255762, PMID:24033266, PMID:25741868 NCBI chr11:67,004,042...67,037,115
Ensembl chr11:67,004,042...67,037,115
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 chr14:87,311,970...87,429,880
Ensembl chr14:87,312,203...87,421,659
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 48
ClinVar Annotator: match by OMIM:609439
OMIM
CTD
ClinVar
PMID:23023331, PMID:25741868, PMID:26416264 NCBI chr 8:59,123,078...59,139,946
Ensembl chr 8:59,123,079...59,139,946
JBrowse link
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 49
ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49
ClinVar Annotator: match by OMIM:610153
OMIM
ClinVar
PMID:17186462, PMID:18084694, PMID:23979167, PMID:24033266, PMID:25652404, PMID:25741868, PMID:25885414, PMID:26467025, PMID:28492532 NCBI chr 2:30,612,746...30,634,308
Ensembl chr 2:30,612,106...30,634,243
JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain 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 chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
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 chr 1:264,776,393...264,796,206
Ensembl chr 1:264,776,398...264,794,938
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 59
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:610220
OMIM
ClinVar
PMID:16804542, PMID:17301963, PMID:17329413, PMID:17373699, PMID:17718865, PMID:21935370, PMID:23804846, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 3:63,508,386...63,518,163
Ensembl chr 3:63,510,293...63,518,147
JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr 3:63,489,081...63,507,918
Ensembl chr 3:63,489,074...63,507,926
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 8:119,142,116...119,157,071
Ensembl chr 8:119,142,434...119,157,071
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 4:9,795,811...9,860,904
Ensembl chr 4:9,821,541...9,860,571
JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:166,981,738...166,985,363
Ensembl chr 1:166,983,175...166,985,054
JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63
ClinVar Annotator: match by OMIM:611451
OMIM
ClinVar
PMID:17211611, PMID:18794526, PMID:18953341, PMID:22908982, PMID:23053991, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:166,985,468...166,989,681
Ensembl chr 1:166,986,013...166,988,062
JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr 1:167,044,544...167,091,453
Ensembl chr 1:167,051,209...167,091,453
JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 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 chr17:41,838,201...42,031,265
Ensembl chr17:41,838,201...42,031,265
JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhfpl5 LHFPL tetraspan subfamily member 5 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 chr20:5,815,837...5,826,137
Ensembl chr20:5,815,837...5,826,137
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 68 ClinVar
OMIM
PMID:16703383, PMID:24824130, PMID:26805784 NCBI chr 8:21,984,914...21,995,806
Ensembl chr 8:21,984,914...21,995,806
JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 7
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11
ClinVar Annotator: match by OMIM:600974
OMIM
ClinVar
PMID:11850618, PMID:16134132, PMID:17877751, PMID:18414213, PMID:18616530, PMID:19187973, PMID:20373850, PMID:21250555, PMID:21252500, PMID:21917145, PMID:22607986, PMID:23208854, PMID:24033266, PMID:24416283, PMID:24949729, PMID:25491636, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
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 chr14:113,530,470...113,561,645
Ensembl chr14:113,530,470...113,561,645
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 74
ClinVar Annotator: match by OMIM:613718
OMIM
ClinVar
PMID:19650862, PMID:21185009, PMID:25741868 NCBI chr 7:62,850,506...62,972,487
Ensembl chr 7:62,850,515...62,972,084
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 term: Deafness, autosomal recessive 76 OMIM
ClinVar
PMID:23348741 NCBI chr 1:88,772,729...88,777,044
Ensembl chr 1:88,772,904...88,776,999
Ensembl chr 1:88,772,904...88,776,999
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: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 chr18:73,645,365...73,812,271
Ensembl chr18:73,645,907...73,812,271
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 79
ClinVar Annotator: match by OMIM:613307
OMIM
ClinVar
PMID:20170898, PMID:20170899, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:2,480,232...2,487,710
Ensembl chr 3:2,480,232...2,487,710
JBrowse link
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmprss3 transmembrane serine protease 3 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 chr20:9,910,522...9,929,705
Ensembl chr20:9,910,522...9,929,705
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 chr 7:49,763,657...50,034,932
Ensembl chr 7:49,763,657...50,034,932
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 chr 7:51,768,469...51,935,442
Ensembl chr 7:51,794,173...51,935,142
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 chr10:13,594,687...13,619,935
Ensembl chr10:13,594,687...13,619,935
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 chr10:13,551,100...13,576,739
Ensembl chr10:13,551,100...13,558,384
JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO ClinVar Annotator: match by OMIM:615429 OMIM
ClinVar
PMID:24039609 NCBI chr 4:100,422,256...100,465,152
Ensembl chr 4:100,422,252...100,465,112
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 chr19:44,212,205...44,231,209
Ensembl chr19:44,212,206...44,231,157
JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igsf6 immunoglobulin superfamily, member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:190,997,029...191,007,503
Ensembl chr 1:190,997,029...191,007,503
JBrowse link
G Mettl9 methyltransferase like 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:190,962,935...191,009,926
Ensembl chr 1:190,964,885...191,009,926
JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:191,029,861...191,097,524
Ensembl chr 1:191,029,861...191,097,290
JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9
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
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 6:27,328,343...27,424,864
Ensembl chr 6:27,328,406...27,424,864
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868, PMID:27082237 NCBI chr10:46,511,271...46,571,591
Ensembl chr10:46,511,271...46,571,583
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 serpin family B member 6A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 91 ClinVar
OMIM
PMID:20451170, PMID:24033266, PMID:25741868 NCBI chr17:32,154,747...32,209,598
Ensembl chr17:32,190,801...32,209,590
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 93 OMIM
ClinVar
PMID:22981119, PMID:25741868, PMID:26445815, PMID:28492532 NCBI chr 1:219,329,186...219,335,046
Ensembl chr 1:219,329,574...219,335,043
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 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 OMIM
ClinVar
PMID:25741868, PMID:25807530 NCBI chr 1:161,922,132...162,035,817
Ensembl chr 1:161,922,141...162,034,700
JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 97 OMIM
ClinVar
PMID:25941349 NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
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 chr20:11,501,510...11,529,210
Ensembl chr20:11,501,925...11,528,332
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 chr10:69,735,534...69,794,975
Ensembl chr10:69,737,328...69,794,975
JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Lichtenstein-knorr syndrome OMIM
ClinVar
PMID:25205112, PMID:25741868, PMID:30018422 NCBI chr 5:151,573,122...151,626,360
Ensembl chr 5:151,573,092...151,627,316
JBrowse link
autosomal-mitochondrial sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor 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 chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
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:30872814, PMID:30989077, PMID:31035178, PMID:31099403, PMID:31160754, PMID:31163360, PMID:32090102, PMID:115556849, PMID:163800907, PMID:15482471 RGD:7364821 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 subunit beta ISO ClinVar Annotator: match by term: Bartter disease type 4a
ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS
ClinVar Annotator: match by OMIM:602522
OMIM
ClinVar
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 5:126,071,849...126,080,647
Ensembl chr 5:126,071,846...126,080,698
JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by OMIM:613090
ClinVar Annotator: match by term: Bartter syndrome, type 4b
ClinVar
OMIM
PMID:15044642, PMID:18310267, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr 5:159,931,497...159,946,483
Ensembl chr 5:159,931,511...159,946,446
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO OMIM NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
ClinVar
OMIM
PMID:9490303, PMID:9917792, PMID:11017079, PMID:11440988, PMID:11440989, PMID:11810270, PMID:12036970, PMID:14961560, PMID:15505825, PMID:16513463, PMID:17722006, PMID:18222991, PMID:20157015, PMID:20659957, PMID:20952381, PMID:21636302, PMID:21646330, PMID:22042570, PMID:22857269, PMID:23250881, PMID:23401657, PMID:24907432, PMID:25012220, PMID:25146916, PMID:25564500, PMID:25641387, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28812649, PMID:30311386 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
Bilateral Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X RGD PMID:12032315 RGD:1600555 NCBI chr17:88,952,635...89,167,538
Ensembl chr17:88,963,981...89,167,018
JBrowse link
G Nefh neurofilament heavy disease_progression IEP RGD PMID:27457532 RGD:27372873 NCBI chr14:85,181,572...85,191,557
Ensembl chr14:85,181,572...85,191,557
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) RGD PMID:19645628 RGD:7411669 NCBI chr 6:50,809,103...50,848,443
Ensembl chr 6:50,808,923...50,846,965
JBrowse link
Bilateral Vestibulopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chr14:44,627,528...44,702,205
Ensembl chr14:44,580,216...44,702,203
JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Pili torti-deafness syndrome
ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency
ClinVar Annotator: match by term: BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
ClinVar Annotator: match by OMIM:262000
OMIM
ClinVar
PMID:9545407, PMID:11528392, PMID:12215968, PMID:12547234, PMID:12910490, PMID:17314340, PMID:17403714, PMID:18386115, PMID:19389488, PMID:19508421, PMID:20518024, PMID:21274865, PMID:22277166, PMID:24172246, PMID:25741868, PMID:25895478, PMID:25914718, PMID:28492532 NCBI chr 9:81,868,158...81,872,201
Ensembl chr 9:81,868,265...81,872,197
JBrowse link
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:147,503,266...147,517,935
Ensembl chr 3:147,511,406...147,516,455
JBrowse link
Brown-Vialetto-Van Laere syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 ClinVar PMID:25741868 NCBI chr 7:117,605,038...117,608,460
Ensembl chr 7:117,605,050...117,608,460
JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 ClinVar
OMIM
PMID:2020633, PMID:16122634, PMID:20206331, PMID:20920669, PMID:21110228, PMID:22273710, PMID:22633641, PMI