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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

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


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show annotations for term's descendants           Sort by:
Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043416 NCBI chrNW_004624764:16,089,357...16,113,275 JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:11406631 RGD:734598 NCBI chrNW_004624770:5,581,192...5,593,470
Ensembl chrNW_004624770:5,580,808...5,594,628
JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO CTD Direct Evidence: therapeutic RGD
CTD
PMID:18607918 PMID:19365690 PMID:21452221 PMID:23150788 RGD:8639313 RGD:8655576 NCBI chrNW_004624766:17,281,882...17,330,601
Ensembl chrNW_004624766:17,279,630...17,330,490
JBrowse link
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chrNW_004624905:525,302...637,951
Ensembl chrNW_004624905:524,880...638,237
JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:10929716 PMID:15357422 RGD:1300292 NCBI chrNW_004624822:3,391,045...3,734,258
Ensembl chrNW_004624822:3,392,044...3,919,415
JBrowse link
G Cdc14a cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chrNW_004624857:3,246,027...3,416,536
Ensembl chrNW_004624857:3,245,934...3,417,199
JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chrNW_004624754:5,356,006...5,725,774
Ensembl chrNW_004624754:5,393,733...5,724,876
JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chrNW_004624764:2,202,438...2,212,185
Ensembl chrNW_004624764:2,202,579...2,212,337
JBrowse link
G Cldn14 claudin 14 susceptibility ISO DNA:deletion, missense mutation: :398delT, p.V85D
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:11163249 RGD:1600866 NCBI chrNW_004624745:27,058,441...27,074,288
Ensembl chrNW_004624745:27,058,911...27,074,282
JBrowse link
G Coch cochlin susceptibility ISO deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations RGD PMID:9806553 RGD:1600878 NCBI chrNW_004624820:1,367,582...1,381,630
Ensembl chrNW_004624820:1,366,384...1,381,099
JBrowse link
G Crym crystallin mu ISO DNA:missense mutation:cds:p.K314T (human) RGD PMID:12471561 RGD:734836 NCBI chrNW_004624782:7,321,396...7,337,286
Ensembl chrNW_004624782:7,321,396...7,337,898
JBrowse link
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chrNW_004624752:22,250,988...22,424,957
Ensembl chrNW_004624752:22,295,413...22,426,717
JBrowse link
G Espn espin ISO CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:10975527 PMID:15286153 PMID:15930085 RGD:734943 NCBI chrNW_004624818:5,015,275...5,042,862
Ensembl chrNW_004624818:5,016,019...5,042,724
JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:19293293 RGD:8553051 NCBI chrNW_004624734:36,742,913...36,862,993
Ensembl chrNW_004624734:36,759,104...36,825,295
JBrowse link
G Gjb1 gap junction protein beta 1 treatment ISO RGD PMID:21813206 RGD:7364894 NCBI chrNW_004624903:1,511,347...1,519,265
Ensembl chrNW_004624903:1,517,324...1,519,265
JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936
JBrowse link
G Gjb3 gap junction protein beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843210 NCBI chrNW_004624764:17,829,214...17,833,509
Ensembl chrNW_004624764:17,829,467...17,833,465
JBrowse link
G Gpsm2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chrNW_004624772:4,634,005...4,704,280
Ensembl chrNW_004624772:4,651,326...4,704,280
JBrowse link
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chrNW_004624761:23,876,226...24,039,591
Ensembl chrNW_004624761:23,876,301...24,039,603
JBrowse link
G Igf1 insulin like growth factor 1 ISO RGD PMID:20661454 RGD:8549497 NCBI chrNW_004624750:5,881,065...5,954,799
Ensembl chrNW_004624750:5,881,091...5,952,300
JBrowse link
G Ildr1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chrNW_004624912:269,657...300,537
Ensembl chrNW_004624912:267,185...300,550
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chrNW_004624741:11,647,723...11,683,137
Ensembl chrNW_004624741:11,647,463...11,683,488
JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:12618319 RGD:8662867 NCBI chrNW_004624794:1,180,822...1,211,781
Ensembl chrNW_004624794:1,180,834...1,212,456
JBrowse link
G Kcnk1 potassium two pore domain channel subfamily K member 1 ISO mRNA:decreased expression:brain, neuron RGD PMID:17884299 RGD:2316516 NCBI chrNW_004624775:16,494,054...16,538,089
Ensembl chrNW_004624775:16,493,949...16,538,025
JBrowse link
G Kcnk10 potassium two pore domain channel subfamily K member 10 ISO mRNA:decreased expression:inferior colliculus (rat) RGD PMID:17884299 RGD:2316516 NCBI chrNW_004624734:14,062,218...14,161,869
Ensembl chrNW_004624734:13,990,495...14,156,674
JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 ISO mRNA:decreased expression:brain, neuron RGD PMID:17884299 RGD:2316516 NCBI chrNW_004624738:8,813,683...8,850,744
Ensembl chrNW_004624738:8,813,644...8,848,783
JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chrNW_004624767:15,252,961...15,613,373
Ensembl chrNW_004624767:15,252,950...15,613,562
JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chrNW_004624778:10,106,009...10,282,085
Ensembl chrNW_004624778:10,106,975...10,282,085
JBrowse link
G Lrrc51 leucine rich repeat containing 51 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953341 NCBI chrNW_004624817:4,880,176...4,895,924
Ensembl chrNW_004624817:4,880,178...4,888,901
JBrowse link
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chrNW_004624905:277,718...300,821
Ensembl chrNW_004624905:284,356...297,865
JBrowse link
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chrNW_004624773:4,346,072...4,561,218
Ensembl chrNW_004624773:4,346,007...4,562,969
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:22135276 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... NCBI chrNW_004624863:205,468...283,840
Ensembl chrNW_004624863:205,478...283,839
JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chrNW_004624738:8,599,815...8,690,382
Ensembl chrNW_004624738:8,599,544...8,690,412
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chrNW_004624766:9,156,036...9,234,200
Ensembl chrNW_004624766:9,156,158...9,232,484
JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chrNW_004624823:2,870,762...2,963,134
Ensembl chrNW_004624823:2,871,162...2,961,944
JBrowse link
G Pcdh15 protocadherin related 15 ISO DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:10978835 PMID:19151506 RGD:2306012 NCBI chrNW_004624791:9,042,311...9,992,341
Ensembl chrNW_004624791:9,195,902...9,990,131
JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 More... NCBI chrNW_004624844:424,903...432,841
Ensembl chrNW_004624844:426,636...433,043
JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chrNW_004624832:4,117,597...4,135,092
Ensembl chrNW_004624832:4,117,341...4,135,035
JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chrNW_004624746:28,604,098...28,612,975
Ensembl chrNW_004624746:28,604,098...28,613,006
JBrowse link
G Polr2f RNA polymerase II, I and III subunit F ISO ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chrNW_004624752:9,978,373...9,988,192
Ensembl chrNW_004624752:9,978,273...9,988,134
JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO RGD PMID:7839145 PMID:9298820 RGD:1599155 RGD:1599156 NCBI chrNW_004624852:5,036,585...5,040,160
Ensembl chrNW_004624852:5,037,373...5,040,139
JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO RGD PMID:9506947 RGD:1599168 NCBI chrNW_004624774:5,821,024...5,822,351
Ensembl chrNW_004624774:5,821,024...5,822,351
JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chrNW_004624750:17,621,520...17,863,902
Ensembl chrNW_004624750:17,622,627...17,863,899
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624849:3,624,436...3,749,276
Ensembl chrNW_004624849:3,625,882...3,640,671
JBrowse link
G Ret ret proto-oncogene ISO mRNA:increased expression:vestibulocochlear VIII nerve cochlear component RGD PMID:16738479 RGD:2324943 NCBI chrNW_004624922:382,462...413,227
Ensembl chrNW_004624922:382,399...413,281
JBrowse link
G Serac1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chrNW_004624785:82,120...155,103
Ensembl chrNW_004624785:82,155...146,457
JBrowse link
G Slc19a2 solute carrier family 19 member 2 ISO RGD PMID:10391221 RGD:1599325 NCBI chrNW_004624826:7,382,158...7,400,702
Ensembl chrNW_004624826:7,380,827...7,400,665
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:11317356 PMID:28492532 PMID:29372807 PMID:30303587 PMID:34170635 NCBI chrNW_004624739:22,047,771...22,100,130
Ensembl chrNW_004624739:22,047,704...22,100,154
JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12719379 NCBI chrNW_004624739:25,925,835...25,998,410
Ensembl chrNW_004624739:25,930,221...25,995,828
JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325
JBrowse link
G Sox10 SRY-box transcription factor 10 ISO ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chrNW_004624752:9,965,015...9,976,244
Ensembl chrNW_004624752:9,965,756...9,973,777
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chrNW_004624880:4,040,402...4,122,377
Ensembl chrNW_004624880:4,041,020...4,122,377
JBrowse link
G Tmc1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:11850618 PMID:16199547 PMID:22105175 PMID:28492532 PMID:30303587 More... NCBI chrNW_004624736:93,146...563,264
Ensembl chrNW_004624736:94,840...203,597
JBrowse link
G Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27311106 NCBI chrNW_004624837:1,998,443...2,398,290
Ensembl chrNW_004624837:1,998,083...2,398,451
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624752:10,130,857...10,186,242 JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:30303587 NCBI chrNW_004624801:4,747,260...4,761,223
Ensembl chrNW_004624801:4,755,688...4,761,180
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chrNW_004624835:48,213...758,640
Ensembl chrNW_004624835:49,877...758,640
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chrNW_004624760:20,700,632...20,788,628
Ensembl chrNW_004624760:20,700,593...20,788,628
JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-CoA acetyltransferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:3,177,402...3,199,634
Ensembl chrNW_004624855:3,176,171...3,199,705
JBrowse link
G Agpat4 1-acylglycerol-3-phosphate O-acyltransferase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:2,046,000...2,185,729
Ensembl chrNW_004624855:2,046,014...2,161,398
JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:4,836,109...5,190,990
Ensembl chrNW_004624731:5,029,421...5,190,996
JBrowse link
G Dynlt1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624929:969,294...976,420
Ensembl chrNW_004624929:968,823...976,414
JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624929:827,275...873,743
Ensembl chrNW_004624929:826,531...873,572
JBrowse link
G Fndc1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624929:395,766...495,288
Ensembl chrNW_004624929:395,705...460,563
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624785:70,425...82,098
Ensembl chrNW_004624785:69,978...82,012
JBrowse link
G Igf2r insulin like growth factor 2 receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:2,752,676...2,887,327
Ensembl chrNW_004624855:2,753,994...2,887,151
JBrowse link
G Map3k4 mitogen-activated protein kinase kinase kinase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:2,174,141...2,298,219
Ensembl chrNW_004624855:2,174,097...2,298,259
JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:2,968,111...3,008,728
Ensembl chrNW_004624855:2,969,444...2,970,421
JBrowse link
G Mrpl18 mitochondrial ribosomal protein L18 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:3,112,933...3,120,435 JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:2,362,793...2,401,519
Ensembl chrNW_004624855:2,360,229...2,402,079
JBrowse link
G Pnldc1 PARN like ribonuclease domain containing exonuclease 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:3,088,457...3,111,711
Ensembl chrNW_004624855:3,087,365...3,112,123
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:430,148...1,992,121
Ensembl chrNW_004624855:430,260...1,989,747
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624929:661,257...682,772
Ensembl chrNW_004624929:661,495...682,072
JBrowse link
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome | ClinVar Annotator: match by term: SERAC1-related neurological disorder OMIM
ClinVar
PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chrNW_004624785:82,120...155,103
Ensembl chrNW_004624785:82,155...146,457
JBrowse link
G Slc22a2 solute carrier family 22 member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:2,623,595...2,661,739
Ensembl chrNW_004624855:2,623,547...2,659,742
JBrowse link
G Slc22a3 solute carrier family 22 member 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:2,402,096...2,516,249
Ensembl chrNW_004624855:2,399,671...2,516,237
JBrowse link
G Sod2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:3,260,800...3,271,864
Ensembl chrNW_004624855:3,260,809...3,271,367
JBrowse link
G Sytl3 synaptotagmin like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624929:874,246...969,213
Ensembl chrNW_004624929:874,471...953,246
JBrowse link
G Tagap T cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624929:630,707...642,915
Ensembl chrNW_004624929:631,593...639,482
JBrowse link
G Tcp1 t-complex 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:3,121,274...3,133,640 JBrowse link
G Tmem181 transmembrane protein 181 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624929:977,896...1,053,590
Ensembl chrNW_004624929:979,523...1,040,057
JBrowse link
G Tulp4 TUB like protein 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624929:1,095,164...1,317,623
Ensembl chrNW_004624929:1,098,801...1,253,891
JBrowse link
G Wtap WT1 associated protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chrNW_004624855:3,205,543...3,236,134
Ensembl chrNW_004624855:3,205,543...3,235,979
JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY OMIM
ClinVar
PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chrNW_004624752:3,538,558...3,552,847
Ensembl chrNW_004624752:3,538,558...3,553,377
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 chrNW_004624838:4,872,279...4,889,780
Ensembl chrNW_004624838:4,871,511...4,886,384
JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY, NONSYNDROMIC DOMINANT | ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition OMIM
ClinVar
PMID:9536098 PMID:15520414 PMID:17576681 PMID:20624953 PMID:21220648 More... NCBI chrNW_004624748:20,937,242...21,439,554
Ensembl chrNW_004624748:21,045,085...21,383,605
JBrowse link
Autosomal Dominant Auditory Neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO OMIM NCBI chrNW_004624793:904,320...998,413
Ensembl chrNW_004624793:903,847...998,436
JBrowse link
autosomal dominant auditory neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar
PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 More... NCBI chrNW_004624872:1,467,531...1,481,057
Ensembl chrNW_004624872:1,467,440...1,481,044
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant OMIM
ClinVar
PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 NCBI chrNW_004624758:15,910,189...15,933,975
Ensembl chrNW_004624758:15,910,132...15,935,160
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 OMIM
ClinVar
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... NCBI chrNW_004624872:4,096,001...4,102,392 JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chrNW_004624832:4,176,632...4,234,763
Ensembl chrNW_004624832:4,176,914...4,230,863
JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant OMIM
ClinVar
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936
JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss ClinVar PMID:25741868 PMID:33111345 NCBI chrNW_004624757:21,517,650...21,519,543
Ensembl chrNW_004624757:21,517,809...21,518,864
JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chrNW_004624731:4,836,109...5,190,990
Ensembl chrNW_004624731:5,029,421...5,190,996
JBrowse link
G Diablo diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chrNW_004624747:22,441,533...22,457,056
Ensembl chrNW_004624747:22,441,541...22,457,075
JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chrNW_004624770:10,223,131...10,471,309
Ensembl chrNW_004624770:10,225,669...10,345,173
JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chrNW_004624819:2,835,783...2,999,819
Ensembl chrNW_004624819:2,896,374...2,999,819
JBrowse link
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chrNW_004624783:1,025,606...1,708,803
Ensembl chrNW_004624783:1,027,548...1,139,231
JBrowse link
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment ClinVar PMID:30872814 PMID:31397523 NCBI chrNW_004624730:19,164,360...19,302,369
Ensembl chrNW_004624730:19,163,783...19,302,222
JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chrNW_004624734:40,453,445...40,457,551
Ensembl chrNW_004624734:40,453,420...40,459,671
JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME OMIM
ClinVar
PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chrNW_004624774:738,717...845,187
Ensembl chrNW_004624774:739,206...845,272
JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar PMID:28492532 NCBI chrNW_004624743:32,248,768...32,272,352
Ensembl chrNW_004624743:32,246,966...32,256,617
JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders OMIM
ClinVar
PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 More... NCBI chrNW_004624753:7,536,654...7,680,671
Ensembl chrNW_004624753:7,548,694...7,677,472
JBrowse link
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 11 OMIM
ClinVar
PMID:3130723 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 More... NCBI chrNW_004624863:205,468...283,840
Ensembl chrNW_004624863:205,478...283,839
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 OMIM
ClinVar
PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 More... NCBI chrNW_004624880:4,040,402...4,122,377
Ensembl chrNW_004624880:4,041,020...4,122,377
JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13 OMIM
ClinVar
PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:21204229 More... NCBI chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591
JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition OMIM
ClinVar
PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More... NCBI chrNW_004624774:5,821,024...5,822,351
Ensembl chrNW_004624774:5,821,024...5,822,351
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 PMID:25741868 PMID:26969326 NCBI chrNW_004624838:2,894,945...2,913,030
Ensembl chrNW_004624838:2,896,147...2,910,268
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chrNW_004624880:4,040,402...4,122,377
Ensembl chrNW_004624880:4,041,020...4,122,377
JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration OMIM
ClinVar
PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chrNW_004624752:11,327,881...11,414,037
Ensembl chrNW_004624752:11,327,877...11,413,669
JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 20 OMIM
ClinVar
PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chrNW_004624801:10,496,876...10,499,737
Ensembl chrNW_004624801:10,496,718...10,499,637
JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 OMIM
ClinVar
PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chrNW_004624819:2,835,783...2,999,819
Ensembl chrNW_004624819:2,896,374...2,999,819
JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 23 OMIM
ClinVar
PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chrNW_004624734:40,453,445...40,457,551
Ensembl chrNW_004624734:40,453,420...40,459,671
JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 25 OMIM
ClinVar
PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chrNW_004624750:7,345,411...7,396,445
Ensembl chrNW_004624750:7,345,557...7,396,154
JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO OMIM:605583 MouseDO NCBI chrNW_004624747:10,675,625...10,685,351 JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1 silencing transcription factor ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 27 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 NCBI chrNW_004624761:12,464,243...12,495,294 JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 28 OMIM
ClinVar
PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624763:18,784,815...18,916,358
Ensembl chrNW_004624763:18,784,187...18,916,358
JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition OMIM
ClinVar
PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 More... NCBI chrNW_004624892:226,324...275,198
Ensembl chrNW_004624892:226,324...275,195
JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 2b ClinVar
OMIM
PMID:9843210 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 More... NCBI chrNW_004624764:17,829,214...17,833,509
Ensembl chrNW_004624764:17,829,467...17,833,465
JBrowse link
autosomal dominant nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 30 ClinVar PMID:32519820 NCBI chrNW_004624796:2,774,153...2,983,853 JBrowse link
autosomal dominant nonsyndromic deafness 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:30311386 PMID:35278131 NCBI chrNW_004624793:904,320...998,413
Ensembl chrNW_004624793:903,847...998,436
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591
JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation OMIM
ClinVar
PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chrNW_004624937:564,191...584,470 JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition OMIM
ClinVar
PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 More... NCBI chrNW_004624736:93,146...563,264
Ensembl chrNW_004624736:94,840...203,597
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar NCBI chrNW_004624835:48,213...758,640
Ensembl chrNW_004624835:49,877...758,640
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 More... NCBI chrNW_004624857:5,817,472...6,176,421
Ensembl chrNW_004624857:5,817,475...6,029,107
JBrowse link
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a OMIM
ClinVar
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936
JBrowse link
G Gjb4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chrNW_004624764:17,812,152...17,814,987
Ensembl chrNW_004624764:17,813,922...17,814,722
JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:27480936 PMID:28492532 NCBI chrNW_004624776:17,127,362...17,312,271
Ensembl chrNW_004624776:17,127,002...17,312,348
JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chrNW_004624776:16,875,625...16,918,153
Ensembl chrNW_004624776:16,903,531...16,921,896
JBrowse link
G Gja3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chrNW_004624776:17,562,050...17,585,308
Ensembl chrNW_004624776:17,579,913...17,581,121
JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936
JBrowse link
G Gjb6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b OMIM
ClinVar
PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chrNW_004624776:17,477,947...17,487,304
Ensembl chrNW_004624776:17,477,966...17,487,303
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chrNW_004624776:16,954,368...17,086,377
Ensembl chrNW_004624776:16,954,507...17,086,337
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chrNW_004624776:16,924,085...16,941,141
Ensembl chrNW_004624776:16,924,085...16,941,729
JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chrNW_004624776:16,695,972...16,822,699
Ensembl chrNW_004624776:16,695,972...16,821,047
JBrowse link
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crym crystallin mu ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 40 OMIM
ClinVar
PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624782:7,321,396...7,337,286
Ensembl chrNW_004624782:7,321,396...7,337,898
JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2rx2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition OMIM
ClinVar
PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chrNW_004624747:28,019,305...28,023,558
Ensembl chrNW_004624747:28,020,652...28,023,392
JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc50 coiled-coil domain containing 50 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 44 OMIM
ClinVar
PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 More... NCBI chrNW_004624730:65,877,175...65,949,099
Ensembl chrNW_004624730:65,882,486...65,949,464
JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chrNW_004624802:10,892,685...10,913,953
Ensembl chrNW_004624802:10,892,774...10,913,952
JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO OMIM:600652 MouseDO NCBI chrNW_004624907:1,627,941...1,638,436
Ensembl chrNW_004624907:1,631,279...1,638,266
JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition OMIM
ClinVar
PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chrNW_004624832:4,176,632...4,234,763
Ensembl chrNW_004624832:4,176,914...4,230,863
JBrowse link
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4b OMIM
ClinVar
PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chrNW_004624907:1,627,941...1,638,436
Ensembl chrNW_004624907:1,631,279...1,638,266
JBrowse link
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsdme gasdermin E ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 5 OMIM
ClinVar
PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 More... NCBI chrNW_004624739:5,790,372...5,879,979
Ensembl chrNW_004624739:5,798,771...5,871,088
JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar PMID:20602916 NCBI chrNW_004624736:3,833,402...4,009,385
Ensembl chrNW_004624736:3,834,548...3,878,828
JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pappa pappalysin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chrNW_004624760:18,842,353...19,078,657
Ensembl chrNW_004624760:18,848,021...19,078,657
JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition OMIM
ClinVar
PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004624760:20,044,900...20,137,260
Ensembl chrNW_004624760:20,044,826...20,137,616
JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chrNW_004624760:20,251,390...20,280,358
Ensembl chrNW_004624760:20,253,437...20,280,522
JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 OMIM
ClinVar
PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More... NCBI chrNW_004624755:22,818,653...22,841,717
Ensembl chrNW_004624755:22,824,143...22,841,850
JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 64 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624747:22,440,284...22,441,539 JBrowse link
G Diablo diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 64 OMIM
ClinVar
PMID:21722859 PMID:25741868 PMID:28492532 NCBI chrNW_004624747:22,441,533...22,457,056
Ensembl chrNW_004624747:22,441,541...22,457,075
JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chrNW_004624824:181,696...204,045
Ensembl chrNW_004624824:181,735...204,029
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar
PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 More... NCBI chrNW_004624824:245,717...251,603
Ensembl chrNW_004624824:243,939...254,249
JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd164 CD164 molecule ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 OMIM
ClinVar
PMID:25741868 PMID:26197441 NCBI chrNW_004624916:643,145...656,266 JBrowse link
autosomal dominant nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osbpl2 oxysterol binding protein like 2 ISO OMIM:616340 MouseDO NCBI chrNW_004624741:28,099,384...28,145,179
Ensembl chrNW_004624741:28,116,827...28,144,263
JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 68 OMIM
ClinVar
PMID:25741868 PMID:25816005 PMID:30047143 NCBI chrNW_004624768:18,626,353...18,751,279
Ensembl chrNW_004624768:18,635,283...18,721,984
JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric OMIM
ClinVar
PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 NCBI chrNW_004624837:7,456,116...7,541,764
Ensembl chrNW_004624837:7,456,120...7,541,730
JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1a LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 7 OMIM
ClinVar
PMID:25741868 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227 NCBI chrNW_004624826:3,541,291...3,689,039
Ensembl chrNW_004624826:3,543,191...3,689,062
JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmxl2 Dmx like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 71 OMIM
ClinVar
PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 More... NCBI chrNW_004624731:8,702,288...8,843,807
Ensembl chrNW_004624731:8,702,137...8,842,653
JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 72 OMIM
ClinVar
PMID:25741868 PMID:28013291 PMID:28492532 NCBI chrNW_004624754:24,368,697...24,381,959
Ensembl chrNW_004624754:24,368,716...24,382,397
JBrowse link
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73 OMIM
ClinVar
PMID:25741868 PMID:26467025 PMID:29309402 NCBI chrNW_004624750:17,621,520...17,863,902
Ensembl chrNW_004624750:17,622,627...17,863,899
JBrowse link
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 74 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29860631 NCBI chrNW_004624783:1,025,606...1,708,803
Ensembl chrNW_004624783:1,027,548...1,139,231
JBrowse link
autosomal dominant nonsyndromic deafness 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trrap transformation/transcription domain associated protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 75 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31231791 NCBI chrNW_004624740:32,349,521...32,472,240
Ensembl chrNW_004624740:32,349,568...32,472,308
JBrowse link
autosomal dominant nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chrNW_004624730:19,164,360...19,302,369
Ensembl chrNW_004624730:19,163,783...19,302,222
JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar
PMID:31273342 NCBI chrNW_004624782:449,217...590,306
Ensembl chrNW_004624782:449,288...591,310
JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 78 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32294086 PMID:32658972 NCBI chrNW_004624774:13,236,306...13,335,412 JBrowse link
autosomal dominant nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scd5 stearoyl-CoA desaturase 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 79 OMIM
ClinVar
PMID:31972369 NCBI chrNW_004624757:8,133,260...8,302,168
Ensembl chrNW_004624757:8,132,895...8,302,551
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29955957 PMID:32585897 NCBI chrNW_004624770:10,223,131...10,471,309
Ensembl chrNW_004624770:10,225,669...10,345,173
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624863:205,468...283,840
Ensembl chrNW_004624863:205,478...283,839
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 81 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29713870 NCBI chrNW_004624749:17,749,004...17,774,891
Ensembl chrNW_004624749:17,749,658...17,774,891
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 OMIM
ClinVar
PMID:15829536 PMID:22047666 PMID:25741868 PMID:26467025 PMID:27535533 More... NCBI chrNW_004624731:4,836,109...5,190,990
Ensembl chrNW_004624731:5,029,421...5,190,996
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map1b microtubule associated protein 1B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 83 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:33268592 NCBI chrNW_004624905:1,198,157...1,304,128
Ensembl chrNW_004624905:1,198,205...1,304,309
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar
OMIM
PMID:25741868 PMID:30311386 PMID:35278131 NCBI chrNW_004624793:904,320...998,413
Ensembl chrNW_004624793:903,847...998,436
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 85 OMIM
ClinVar
PMID:25741868 PMID:34059922 NCBI chrNW_004624764:6,528,084...6,610,926 JBrowse link
Autosomal Dominant Nonsyndromic Deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thoc1 THO complex 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 86 ClinVar
OMIM
PMID:32776944 NCBI chrNW_004624770:10,771,785...10,811,287 JBrowse link
Autosomal Dominant Nonsyndromic Deafness 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 87 ClinVar
OMIM
PMID:33358777 NCBI chrNW_004624772:18,533,603...18,564,160
Ensembl chrNW_004624772:18,532,986...18,564,492
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha10 EPH receptor A10 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 88 OMIM
ClinVar
PMID:25741868 NCBI chrNW_004624764:20,441,465...20,480,421 JBrowse link
Autosomal Dominant Nonsyndromic Deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 89 ClinVar
OMIM
PMID:25741868 PMID:33111345 NCBI chrNW_004624757:21,517,650...21,519,543
Ensembl chrNW_004624757:21,517,809...21,518,864
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 OMIM
ClinVar
PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chrNW_004624820:1,367,582...1,381,630
Ensembl chrNW_004624820:1,366,384...1,381,099
JBrowse link
Autosomal Dominant Nonsyndromic Deafness 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 90 OMIM
ClinVar
PMID:25741868 PMID:29880844 PMID:34788109 NCBI chrNW_004624796:2,774,153...2,983,853 JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chrNW_004624740:21,100,780...21,202,147
Ensembl chrNW_004624740:21,105,212...21,202,111
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant OMIM
ClinVar
PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chrNW_004624755:22,818,653...22,841,717
Ensembl chrNW_004624755:22,824,143...22,841,850
JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 NCBI chrNW_004624743:9,849,070...10,292,392 JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO OMIM:607197 MouseDO NCBI chrNW_004624762:2,445,840...2,480,377
Ensembl chrNW_004624762:2,443,765...2,480,464
JBrowse link
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chrNW_004624862:4,917,196...4,927,139
Ensembl chrNW_004624862:4,917,198...4,927,137
JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chrNW_004624767:19,016,945...19,022,328
Ensembl chrNW_004624767:19,016,945...19,022,328
JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... NCBI chrNW_004624754:5,356,006...5,725,774
Ensembl chrNW_004624754:5,393,733...5,724,876
JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23023331 PMID:25741868 PMID:30303587 NCBI chrNW_004624894:2,688,784...2,704,742
Ensembl chrNW_004624894:2,688,814...2,704,747
JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chrNW_004624764:2,202,438...2,212,185
Ensembl chrNW_004624764:2,202,579...2,212,337
JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 NCBI chrNW_004624745:27,058,441...27,074,288
Ensembl chrNW_004624745:27,058,911...27,074,282
JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chrNW_004624754:14,335,173...14,433,721
Ensembl chrNW_004624754:14,370,425...14,434,269
JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chrNW_004624754:5,630,802...5,635,649
Ensembl chrNW_004624754:5,630,673...5,635,688
JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chrNW_004624751:22,459,613...22,491,409
Ensembl chrNW_004624751:22,459,584...22,491,606
JBrowse link
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chrNW_004624752:22,250,988...22,424,957
Ensembl chrNW_004624752:22,295,413...22,426,717
JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004624818:5,015,275...5,042,862
Ensembl chrNW_004624818:5,016,019...5,042,724
JBrowse link
G Esrrb estrogen related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 NCBI chrNW_004624734:25,261,493...25,369,092
Ensembl chrNW_004624734:25,261,493...25,430,045
JBrowse link
G Gipc3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004624828:6,283,596...6,290,600
Ensembl chrNW_004624828:6,284,929...6,288,610
JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 More... NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936
JBrowse link
G Gjb3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chrNW_004624764:17,829,214...17,833,509
Ensembl chrNW_004624764:17,829,467...17,833,465
JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:35802133 PMID:37074134 NCBI chrNW_004624849:3,006,497...3,029,334
Ensembl chrNW_004624849:3,009,505...3,027,501
JBrowse link
G Gpr156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:37814107 NCBI chrNW_004624731:27,956,317...28,090,259
Ensembl chrNW_004624731:27,956,383...28,091,285
JBrowse link
G Gpsm2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chrNW_004624772:4,634,005...4,704,280
Ensembl chrNW_004624772:4,651,326...4,704,280
JBrowse link
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20137778 PMID:30303587 NCBI chrNW_004624761:23,876,226...24,039,591
Ensembl chrNW_004624761:23,876,301...24,039,603
JBrowse link
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chrNW_004624774:5,344,696...5,367,009
Ensembl chrNW_004624774:5,344,696...5,367,009
JBrowse link
G Ildr1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:15641023 PMID:21255762 PMID:25741868 PMID:30303587 NCBI chrNW_004624912:269,657...300,537
Ensembl chrNW_004624912:267,185...300,550
JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 NCBI chrNW_004624754:21,744,784...21,763,161
Ensembl chrNW_004624754:21,749,312...21,762,896
JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chrNW_004624778:10,106,009...10,282,085
Ensembl chrNW_004624778:10,106,975...10,282,085
JBrowse link
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004624905:277,718...300,821
Ensembl chrNW_004624905:284,356...297,865
JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chrNW_004624802:2,863,930...3,025,345
Ensembl chrNW_004624802:2,860,319...2,997,908
JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chrNW_004624752:11,327,881...11,414,037
Ensembl chrNW_004624752:11,327,877...11,413,669
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:17546645 PMID:25741868 PMID:27573290 PMID:28492532 PMID:30303587 NCBI chrNW_004624849:3,283,180...3,345,456
Ensembl chrNW_004624849:3,284,085...3,344,759
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chrNW_004624863:205,468...283,840
Ensembl chrNW_004624863:205,478...283,839
JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chrNW_004624782:7,843,907...7,916,259
Ensembl chrNW_004624782:7,854,594...7,915,471
JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:20301429 More... NCBI chrNW_004624738:8,599,815...8,690,382
Ensembl chrNW_004624738:8,599,544...8,690,412
JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chrNW_004624766:9,156,036...9,234,200
Ensembl chrNW_004624766:9,156,158...9,232,484
JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004624791:9,042,311...9,992,341
Ensembl chrNW_004624791:9,195,902...9,990,131
JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:28492532 PMID:31253780 NCBI chrNW_004624831:608,270...624,679
Ensembl chrNW_004624831:608,970...624,617
JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 More... NCBI chrNW_004624844:424,903...432,841
Ensembl chrNW_004624844:426,636...433,043
JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004624774:5,821,024...5,822,351
Ensembl chrNW_004624774:5,821,024...5,822,351
JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004624750:17,621,520...17,863,902
Ensembl chrNW_004624750:17,622,627...17,863,899
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624794:11,888,211...12,004,457
Ensembl chrNW_004624794:11,888,289...12,004,314
JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chrNW_004624739:22,047,771...22,100,130
Ensembl chrNW_004624739:22,047,704...22,100,154
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004624880:4,040,402...4,122,377
Ensembl chrNW_004624880:4,041,020...4,122,377
JBrowse link
G Tmc1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 More... NCBI chrNW_004624736:93,146...563,264
Ensembl chrNW_004624736:94,840...203,597
JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chrNW_004624730:74,498,257...74,506,180
Ensembl chrNW_004624730:74,498,281...74,505,041
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:24033266 More... NCBI chrNW_004624745:28,064,414...28,087,319
Ensembl chrNW_004624745:28,064,539...28,083,566
JBrowse link
G Togaram2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chrNW_004624738:10,892,512...10,945,548
Ensembl chrNW_004624738:10,889,703...10,943,128
JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20170899 PMID:30303587 NCBI chrNW_004624760:750,833...758,329
Ensembl chrNW_004624760:750,871...758,433
JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004624752:10,130,857...10,186,242 JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chrNW_004624766:9,097,466...9,153,602
Ensembl chrNW_004624766:9,105,990...9,153,663
JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chrNW_004624801:4,747,260...4,761,223
Ensembl chrNW_004624801:4,755,688...4,761,180
JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chrNW_004624835:48,213...758,640
Ensembl chrNW_004624835:49,877...758,640
JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chrNW_004624760:20,700,632...20,788,628
Ensembl chrNW_004624760:20,700,593...20,788,628
JBrowse link
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 100 OMIM
ClinVar
PMID:15538632 PMID:25741868 PMID:29590114 NCBI chrNW_004624743:21,236,965...21,322,791
Ensembl chrNW_004624743:21,236,980...21,322,064
JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 101 OMIM
ClinVar
PMID:24619944 PMID:25741868 PMID:28492532 NCBI chrNW_004624774:5,344,696...5,367,009
Ensembl chrNW_004624774:5,344,696...5,367,009
JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 102 OMIM
ClinVar
PMID:24033266 PMID:24741995 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chrNW_004624752:22,250,988...22,424,957
Ensembl chrNW_004624752:22,295,413...22,426,717
JBrowse link
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 103 OMIM
ClinVar
PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 NCBI chrNW_004624754:14,335,173...14,433,721
Ensembl chrNW_004624754:14,370,425...14,434,269
JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936
JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624752:22,250,988...22,424,957
Ensembl chrNW_004624752:22,295,413...22,426,717
JBrowse link
G Eps8l2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 OMIM
ClinVar
PMID:25741868 PMID:26282398 PMID:28281779 PMID:28492532 PMID:32747562 NCBI chrNW_004624766:21,775,467...21,790,496
Ensembl chrNW_004624766:21,775,326...21,787,553
JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 107 OMIM
ClinVar
PMID:25741868 PMID:26881968 PMID:28492532 NCBI chrNW_004624801:5,737,034...5,745,935
Ensembl chrNW_004624801:5,736,797...5,746,018
JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ror1 receptor tyrosine kinase like orphan receptor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 108 OMIM
ClinVar
PMID:25741868 PMID:27162350 PMID:28492532 NCBI chrNW_004624742:30,172,458...30,474,801
Ensembl chrNW_004624742:30,172,093...30,319,067
JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrp1 epithelial splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 109 OMIM
ClinVar
PMID:25741868 PMID:29107558 NCBI chrNW_004624763:1,998,560...2,073,854
Ensembl chrNW_004624763:1,998,579...2,073,950
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:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... NCBI chrNW_004624820:1,367,582...1,381,630
Ensembl chrNW_004624820:1,366,384...1,381,099
JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111 ClinVar PMID:28492532 NCBI chrNW_004624734:7,604,049...7,681,481
Ensembl chrNW_004624734:7,608,273...7,651,819
JBrowse link
G Mpzl2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 More... NCBI chrNW_004624784:13,672,672...13,684,612 JBrowse link
autosomal recessive nonsyndromic deafness 112 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 112 OMIM
ClinVar
PMID:24312468 PMID:25741868 NCBI chrNW_004624905:525,302...637,951
Ensembl chrNW_004624905:524,880...638,237
JBrowse link
autosomal recessive nonsyndromic deafness 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 113 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chrNW_004624907:1,627,941...1,638,436
Ensembl chrNW_004624907:1,631,279...1,638,266
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 chrNW_004624849:5,441,806...5,468,300
Ensembl chrNW_004624849:5,441,749...5,468,276
JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 115 OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chrNW_004624786:7,065,992...7,103,944
Ensembl chrNW_004624786:7,066,142...7,102,501
JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 116 OMIM
ClinVar
PMID:25741868 PMID:30311386 PMID:31175426 PMID:35802133 PMID:36633841 NCBI chrNW_004624824:757,962...759,818
Ensembl chrNW_004624824:758,662...759,315
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn2 clarin 2 ISO ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 OMIM
ClinVar
PMID:25741868 PMID:33496845 PMID:38243601 NCBI chrNW_004624755:14,319,151...14,330,329
Ensembl chrNW_004624755:14,317,093...14,329,604
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:34626583 NCBI chrNW_004624731:13,901,347...13,917,051 JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of OMIM
ClinVar
PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 More... NCBI chrNW_004624731:4,836,109...5,190,990
Ensembl chrNW_004624731:5,029,421...5,190,996
JBrowse link
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of
OMIM
ClinVar
PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chrNW_004624754:5,356,006...5,725,774
Ensembl chrNW_004624754:5,393,733...5,724,876
JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chrNW_004624754:5,630,802...5,635,649
Ensembl chrNW_004624754:5,630,673...5,635,688
JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:24367894 PMID:25741868 NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936
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 chrNW_004624754:5,725,697...5,753,575
Ensembl chrNW_004624754:5,726,681...5,753,575
JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:25741868 NCBI chrNW_004624754:5,664,899...5,686,675
Ensembl chrNW_004624754:5,665,445...5,686,692
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 120 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Minar2 membrane integral NOTCH2 associated receptor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 OMIM
ClinVar
PMID:35727972 NCBI chrNW_004624774:11,607,603...11,623,582
Ensembl chrNW_004624774:11,607,504...11,623,544
JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chrNW_004624937:926,090...1,060,233 JBrowse link
Autosomal Recessive Nonsyndromic Deafness 121 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 121 OMIM
ClinVar
PMID:25741868 PMID:37814107 NCBI chrNW_004624731:27,956,317...28,090,259
Ensembl chrNW_004624731:27,956,383...28,091,285
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 122 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 122 OMIM
ClinVar
PMID:37943620 NCBI chrNW_004624793:10,587,703...10,640,634
Ensembl chrNW_004624793:10,588,037...10,641,260
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 123 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx4 syntaxin 4 ISO OMIM NCBI chrNW_004624782:14,094,727...14,101,210
Ensembl chrNW_004624782:14,090,850...14,105,058
JBrowse link
Autosomal Recessive Nonsyndromic Deafness 124 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1l1 PKHD1 like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 ClinVar
OMIM
PMID:38459354 NCBI chrNW_004624763:8,459,642...8,610,164
Ensembl chrNW_004624763:8,459,661...8,608,838
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 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 OMIM
ClinVar
PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More... NCBI chrNW_004624828:6,283,596...6,290,600
Ensembl chrNW_004624828:6,284,929...6,288,610
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 chrNW_004624731:9,707,912...9,721,239 JBrowse link
G Ckmt1a creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chrNW_004624804:10,680,595...10,689,212
Ensembl chrNW_004624804:10,681,210...10,689,212
JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chrNW_004624804:10,906,085...11,240,249
Ensembl chrNW_004624804:10,906,958...11,239,995
JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chrNW_004624804:10,754,978...10,784,641
Ensembl chrNW_004624804:10,755,103...10,784,337
JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chrNW_004624804:10,633,142...10,680,089
Ensembl chrNW_004624804:10,633,142...10,680,084
JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition OMIM
ClinVar
PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chrNW_004624838:2,894,945...2,913,030
Ensembl chrNW_004624838:2,896,147...2,910,268
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:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chrNW_004624766:9,097,466...9,153,602
Ensembl chrNW_004624766:9,105,990...9,153,663
JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A OMIM
ClinVar
PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chrNW_004624766:9,097,466...9,153,602
Ensembl chrNW_004624766:9,105,990...9,153,663
JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otog otogelin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition OMIM
ClinVar
PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More... NCBI chrNW_004624766:9,156,036...9,234,200
Ensembl chrNW_004624766:9,156,158...9,232,484
JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chrNW_004624776:17,127,362...17,312,271
Ensembl chrNW_004624776:17,127,002...17,312,348
JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004624776:16,875,625...16,918,153
Ensembl chrNW_004624776:16,903,531...16,921,896
JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:19894250 PMID:29572252 PMID:30820731 PMID:30871974 PMID:31980658 NCBI chrNW_004624815:9,054,576...9,135,136
Ensembl chrNW_004624815:9,054,651...9,134,286
JBrowse link
G Gja3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004624776:17,562,050...17,585,308
Ensembl chrNW_004624776:17,579,913...17,581,121
JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM
ClinVar
PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936
JBrowse link
G Gjb3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 ClinVar
OMIM
PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624764:17,829,214...17,833,509
Ensembl chrNW_004624764:17,829,467...17,833,465
JBrowse link
G Gjb4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chrNW_004624764:17,812,152...17,814,987
Ensembl chrNW_004624764:17,813,922...17,814,722
JBrowse link
G Gjb6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM
ClinVar
PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chrNW_004624776:17,477,947...17,487,304
Ensembl chrNW_004624776:17,477,966...17,487,303
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004624776:16,954,368...17,086,377
Ensembl chrNW_004624776:16,954,507...17,086,337
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004624776:16,924,085...16,941,141
Ensembl chrNW_004624776:16,924,085...16,941,729
JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004624776:16,695,972...16,822,699
Ensembl chrNW_004624776:16,695,972...16,821,047
JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chrNW_004624776:17,127,362...17,312,271
Ensembl chrNW_004624776:17,127,002...17,312,348
JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004624776:16,875,625...16,918,153
Ensembl chrNW_004624776:16,903,531...16,921,896
JBrowse link
G Gja3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004624776:17,562,050...17,585,308
Ensembl chrNW_004624776:17,579,913...17,581,121
JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:3 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 More... NCBI chrNW_004624776:17,517,824...17,522,683
Ensembl chrNW_004624776:17,518,284...17,522,936
JBrowse link
G Gjb6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b OMIM
ClinVar
PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chrNW_004624776:17,477,947...17,487,304
Ensembl chrNW_004624776:17,477,966...17,487,303
JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004624776:16,954,368...17,086,377
Ensembl chrNW_004624776:16,954,507...17,086,337
JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004624776:16,924,085...16,941,141
Ensembl chrNW_004624776:16,924,085...16,941,729
JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004624776:16,695,972...16,822,699
Ensembl chrNW_004624776:16,695,972...16,821,047
JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 2 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chrNW_004624907:1,627,941...1,638,436
Ensembl chrNW_004624907:1,631,279...1,638,266
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 OMIM
ClinVar
PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236