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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 chr20:99,834,286...99,863,071
Ensembl chr20:99,834,334...99,858,781 		JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:11406631 RGD:734598 NCBI chr18:53,729,143...53,742,916
Ensembl chr18:53,729,186...53,743,156 		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 chr 1:37,386,825...37,451,380
Ensembl chr 1:37,449,593...37,450,336 		JBrowse link
G BDP1 BDP1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 4:65,815,105...65,925,928
Ensembl chr 4:65,814,993...65,914,253 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10929716 PMID:15357422 RGD:1300292 NCBI chr22:14,868,459...15,195,002
Ensembl chr22:15,027,565...15,197,101 		JBrowse link
G CDC14A cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr20:32,822,748...32,987,739
Ensembl chr20:32,822,746...32,986,718 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 9:59,475,126...59,893,824 JBrowse link
G CLCNKA chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587
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 chr 2:80,457,907...80,535,855
Ensembl chr 2:80,458,270...80,458,989 		JBrowse link
G COCH cochlin susceptibility ISO deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations RGD PMID:9806553 RGD:1600878 Ensembl chr24:7,734,850...7,750,814 JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 More... NCBI chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625 		JBrowse link
G CRYM crystallin mu ISO DNA:missense mutation:cds:p.K314T (human) RGD PMID:12471561 RGD:734836 NCBI chr 5:19,388,842...19,409,230
Ensembl chr 5:19,388,841...19,409,199 		JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:26463574 NCBI chr23:44,139,495...44,244,505
Ensembl chr23:44,139,360...44,244,490 		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 chr11:15,522,761...15,691,343
Ensembl chr11:15,522,616...15,691,133 		JBrowse link
G ESPN espin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10975527 PMID:15286153 PMID:15930085 RGD:734943 NCBI chr20:125,282,283...125,320,436
Ensembl chr20:125,278,313...125,320,365 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:19293293 RGD:8553051 NCBI chr24:41,426,333...41,513,802
Ensembl chr24:41,447,224...41,512,486 		JBrowse link
G GJB1 gap junction protein beta 1 treatment ISO RGD PMID:21813206 RGD:7364894 NCBI chr  X:61,013,991...61,019,222
Ensembl chr  X:61,017,716...61,018,567 		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 chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G GJB3 gap junction protein beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843210 NCBI chr20:98,100,285...98,106,517
Ensembl chr20:98,102,413...98,103,225 		JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr20:24,659,470...24,713,714
Ensembl chr20:24,659,957...24,713,677 		JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr27:7,300,259...7,436,241
Ensembl chr27:7,300,376...7,435,093 		JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:20661454 RGD:8549497 NCBI chr11:97,624,498...97,708,730
Ensembl chr11:97,631,189...97,707,308 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:12618319 RGD:8662867 NCBI chr20:3,873,915...3,907,587
Ensembl chr20:3,902,513...3,903,652 		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 chr25:70,820,089...70,873,654
Ensembl chr25:70,819,706...70,873,961 		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 chr24:65,835,010...65,989,030
Ensembl chr24:65,835,650...65,987,964 		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 chr14:80,905,168...80,945,972
Ensembl chr14:80,906,608...80,945,806 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr 1:2,261,448...2,661,840
Ensembl chr 1:2,261,845...2,661,863 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:26437881 PMID:28492532 PMID:30298622 NCBI chr17:36,295,612...36,313,964
Ensembl chr17:36,298,479...36,313,490 		JBrowse link
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:19732867 PMID:21465660 PMID:23897863 PMID:24033266 PMID:25333069 More... NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532 		JBrowse link
G LRRC51 leucine rich repeat containing 51 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953341 NCBI chr 1:63,284,632...63,299,924
Ensembl chr 1:63,293,676...63,302,691 		JBrowse link
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 4:65,501,979...65,532,345
Ensembl chr 4:65,506,474...65,535,566 		JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr22:30,747,747...30,971,951
Ensembl chr22:30,748,440...30,972,168 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:8280620 PMID:10973259 PMID:10973260 PMID:11159552 PMID:11590545 More... NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		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 chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30073893 PMID:30303587 NCBI chr14:81,080,077...81,187,769
Ensembl chr14:81,080,462...81,186,697 		JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:47,323,579...47,428,029
Ensembl chr 1:47,325,745...47,425,607 		JBrowse link
G PAX3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr10:108,125,198...108,225,217
Ensembl chr10:108,125,747...108,224,478 		JBrowse link
G PCDH15 protocadherin related 15 ISO CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat) 		CTD
RGD		 PMID:10978835 PMID:19151506 RGD:2306012 NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		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 chr10:64,004,113...64,013,025
Ensembl chr10:64,005,259...64,014,571 		JBrowse link
G POLR2C RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 5:43,394,294...43,403,981
Ensembl chr 5:43,394,498...43,403,490 		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 chr19:20,654,464...20,668,267
Ensembl chr19:20,654,239...20,669,872 		JBrowse link
G POU3F4 POU class 3 homeobox 4 ISO RGD PMID:7839145 PMID:9298820 RGD:1599155 RGD:1599156 NCBI chr  X:72,379,656...72,381,186
Ensembl chr  X:72,379,979...72,381,064 		JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO RGD PMID:9506947 RGD:1599168 NCBI chr23:48,915,247...48,920,163
Ensembl chr23:48,917,217...48,918,548 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:75,943,793...76,154,604
Ensembl chr11:75,943,260...76,154,083 		JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:28492532 NCBI chr16:16,717,767...16,847,014
Ensembl chr16:16,760,189...16,849,346 		JBrowse link
G RET ret proto-oncogene ISO mRNA:increased expression:vestibulocochlear VIII nerve cochlear component RGD PMID:16738479 RGD:2324943 NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712 		JBrowse link
G SERAC1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr13:85,711,101...85,770,010
Ensembl chr13:85,710,061...85,769,961 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 ISO RGD PMID:10391221 RGD:1599325 NCBI chr25:59,568,801...59,587,398
Ensembl chr25:59,568,893...59,585,094 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:9500541 PMID:9618166 PMID:10861298 PMID:11317356 PMID:12354788 More... NCBI chr21:76,578,035...76,631,725
Ensembl chr21:76,578,665...76,633,165 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12719379 NCBI chr21:72,347,276...72,418,311
Ensembl chr21:72,347,792...72,393,765 		JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:29,894,157...29,951,445
Ensembl chr18:29,897,621...29,934,478 		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 chr19:20,673,053...20,685,506 JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:11850618 PMID:16199547 PMID:22105175 PMID:25741868 PMID:28492532 More... NCBI chr12:83,672,786...83,883,985
Ensembl chr12:83,735,988...83,877,251 		JBrowse link
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27311106 NCBI chr11:78,130,490...78,569,546
Ensembl chr11:78,296,438...78,569,740 		JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chr 4:13,846,753...14,214,647
Ensembl chr 4:13,847,936...14,215,164 		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 chr19:20,447,340...20,476,669 JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:30303587 NCBI chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682 		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 chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr12:25,087,286...25,189,982
Ensembl chr12:25,087,295...25,189,985 		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 chr13:87,363,527...87,378,002 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 chr13:88,634,100...88,782,371
Ensembl chr13:88,640,548...88,781,702 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220 		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 chr13:86,210,462...86,218,002
Ensembl chr13:86,210,465...86,217,956 		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 chr13:86,342,954...86,399,827
Ensembl chr13:86,344,051...86,370,622 		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 chr13:86,720,558...86,868,978
Ensembl chr13:86,792,712...86,868,321 		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 Ensembl chr13:85,771,630...85,782,646 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 chr13:87,587,717...87,723,795
Ensembl chr13:87,587,907...87,724,116 		JBrowse link
G LPA lipoprotein(a) 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 chr13:88,077,041...88,337,256 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 chr13:88,489,835...88,621,504
Ensembl chr13:88,490,200...88,620,992 		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 chr13:87,520,860...87,523,523
Ensembl chr13:87,521,947...87,523,098 		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 chr13:87,389,210...87,395,134
Ensembl chr13:87,389,702...87,394,866 		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 chr13:88,266,054...88,321,596
Ensembl chr13:88,268,198...88,322,644 		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 chr13:87,396,297...87,418,368
Ensembl chr13:87,397,636...87,422,594 		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 chr13:88,856,056...90,329,379 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 chr13:86,562,453...86,582,483 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 chr13:85,711,101...85,770,010
Ensembl chr13:85,710,061...85,769,961 		JBrowse link
G SLC22A1 solute carrier family 22 member 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 chr13:87,744,600...87,780,846
Ensembl chr13:87,745,023...87,781,073 		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 chr13:87,835,077...87,881,410
Ensembl chr13:87,833,430...87,881,081 		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 chr13:87,971,305...88,076,468
Ensembl chr13:87,971,392...88,074,946 		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 chr13:87,284,537...87,297,998
Ensembl chr13:87,280,686...87,297,974 		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 chr13:86,242,087...86,342,084
Ensembl chr13:86,242,109...86,341,818 		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 chr13:86,620,021...86,630,814
Ensembl chr13:86,620,046...86,630,956 		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 chr13:87,377,452...87,388,692
Ensembl chr13:87,377,996...87,388,568 		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 chr13:86,102,912...86,206,815 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 chr13:85,881,735...86,088,074
Ensembl chr13:85,883,698...86,085,894 		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 chr13:87,328,228...87,357,868 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 chr19:28,816,293...28,838,259
Ensembl chr19:28,816,524...28,837,935 		JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PITX2 paired like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE OMIM
ClinVar		 PMID:1664177 PMID:3278127 PMID:6243137 PMID:7593598 PMID:8253776 More... NCBI chr  X:95,452,481...95,475,933 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: 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 chr 3:37,455,326...37,951,237 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 chr 3:90,709,348...90,893,610
Ensembl chr 3:90,709,298...90,887,360 		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:21270786 PMID:21391237 More... NCBI chr22:50,068,053...50,085,094
Ensembl chr22:50,068,095...50,086,648 		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:30311386 PMID:31581539 More... NCBI chr 8:18,264,210...18,289,951
Ensembl chr 8:18,264,329...18,293,444 		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 chr 7:35,993,669...35,999,443 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, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
autosomal dominant nonsyndromic deafness 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: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 5:14,972,589...15,164,594
Ensembl chr 5:14,972,646...15,164,567 		JBrowse link
G ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss ClinVar PMID:25741868 PMID:33111345 NCBI chr 7:42,098,057...42,104,910
Ensembl chr 7:42,100,996...42,102,060 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr20:30,284,471...30,508,660
Ensembl chr20:30,284,447...30,508,658 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr11:117,555,328...117,580,419
Ensembl chr11:117,552,145...117,579,553 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 PMID:32585897 NCBI chr18:58,960,397...59,104,188
Ensembl chr18:58,963,914...59,103,993 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532 		JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr22:30,747,747...30,971,951
Ensembl chr22:30,748,440...30,972,168 		JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:15015131 PMID:15845534 PMID:25741868 NCBI chr 6:43,270,363...43,372,927
Ensembl chr 6:43,275,715...43,372,190 		JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr13:527,361...620,418
Ensembl chr13:457,495...618,858 		JBrowse link
G P2RX2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:30311386 NCBI chr11:127,961,004...127,964,529
Ensembl chr11:127,961,079...127,964,113 		JBrowse link
G PDE1C phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:29860631 NCBI chr21:26,094,604...26,712,127
Ensembl chr21:26,501,264...26,598,053 		JBrowse link
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:30872814 PMID:31397523 NCBI chr15:47,919,807...48,031,158
Ensembl chr15:47,919,823...48,003,805 		JBrowse link
G REST RE1 silencing transcription factor ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 PMID:34828371 NCBI chr 7:11,749,312...11,776,103
Ensembl chr 7:11,749,168...11,773,340 		JBrowse link
G SIX1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr24:37,840,399...37,855,801
Ensembl chr24:37,840,309...37,845,192 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:11295831 PMID:12955714 PMID:16648378 PMID:17492394 PMID:17603484 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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: DIAPH1-related condition | ClinVar Annotator: match by term: KONIGSMARK SYNDROME OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr23:44,139,495...44,244,505
Ensembl chr23:44,139,360...44,244,490 		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 chr23:42,124,181...42,137,577
Ensembl chr23:42,123,875...42,137,196 		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: EYA4-Related Disorders OMIM
ClinVar		 PMID:11159937 PMID:16199547 PMID:23861362 PMID:24033266 PMID:25741868 More... NCBI chr13:39,988,427...40,271,862
Ensembl chr13:40,001,261...40,272,592 		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 OMIM NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 OMIM
ClinVar		 PMID:9536098 PMID:9590290 PMID:9949200 PMID:10196713 PMID:10987647 More... NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647 		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 OMIM NCBI chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625 		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 52 | ClinVar Annotator: match by term: POU4F3-related condition OMIM
ClinVar		 PMID:9506947 PMID:12522684 PMID:14585957 PMID:18228599 PMID:19462854 More... NCBI chr23:48,915,247...48,920,163
Ensembl chr23:48,917,217...48,918,548 		JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647 		JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 NCBI chr26:39,376,441...39,397,613
Ensembl chr26:39,378,318...39,401,072 		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 OMIM
ClinVar		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		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 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:33604570 NCBI chr16:73,456,907...73,459,777 JBrowse link
autosomal dominant nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPOR2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 21 OMIM
ClinVar		 PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 NCBI chr17:47,197,067...47,441,413
Ensembl chr17:47,308,984...47,451,779 		JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BIN1 bridging integrator 1 ISO ClinVar Annotator: match by term: DFNA 22 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:3,112,605...3,173,522
Ensembl chr10:3,113,868...3,173,620 		JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 OMIM
ClinVar		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr13:527,361...620,418
Ensembl chr13:457,495...618,858 		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 OMIM NCBI chr24:37,840,399...37,855,801
Ensembl chr24:37,840,309...37,845,192 		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: SLC17A8-related condition OMIM
ClinVar		 PMID:23967202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:95,673,205...95,740,037
Ensembl chr11:95,674,195...95,739,040 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO OMIM:605583 MouseDO NCBI chr11:105,020,972...105,072,660 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: Autosomal dominant nonsyndromic hearing loss 27 | ClinVar Annotator: match by term: Deafness, autosomal dominant 27 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 NCBI chr 7:11,749,312...11,776,103
Ensembl chr 7:11,749,168...11,773,340 		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 OMIM NCBI chr 8:96,340,459...96,526,366
Ensembl chr 8:96,342,189...96,526,363 		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 chr20:92,083,015...92,139,810
Ensembl chr20:92,083,013...92,139,728 		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 OMIM NCBI chr20:98,100,285...98,106,517
Ensembl chr20:98,102,413...98,103,225 		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 chr 9:25,635,918...25,902,552 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 chr 3:90,709,348...90,893,610
Ensembl chr 3:90,709,298...90,887,360 		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 chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625 		JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION | ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation OMIM
ClinVar		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:12522564 More... NCBI chr25:84,431,436...84,463,387
Ensembl chr25:84,434,527...84,463,249 		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: TMC1-related condition OMIM
ClinVar		 PMID:11850618 PMID:16199547 PMID:19187973 PMID:22105175 PMID:24033266 More... NCBI chr12:83,672,786...83,883,985
Ensembl chr12:83,735,988...83,877,251 		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 susceptibility ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 | ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar
OMIM		 PMID:9536098 PMID:10486316 PMID:16199547 PMID:17576681 PMID:17999364 More... NCBI chr20:30,284,471...30,508,660
Ensembl chr20:30,284,447...30,508,658 		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 OMIM NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB6 gap junction protein beta 6 ISO OMIM NCBI chr 3:775,410...783,770
Ensembl chr 3:782,251...783,036 		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: CRYM-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 40 OMIM
ClinVar		 PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:19,388,842...19,409,230
Ensembl chr 5:19,388,841...19,409,199 		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 chr11:127,961,004...127,964,529
Ensembl chr11:127,961,079...127,964,113 		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: CCDC50-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:85,493,894...85,563,412
Ensembl chr15:85,494,157...85,556,827 		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 chr11:52,939,744...52,961,957
Ensembl chr11:52,936,090...52,961,486 		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 chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342 		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 chr 6:43,270,363...43,372,927
Ensembl chr 6:43,275,715...43,372,190 		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: CEACAM16-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342 		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: GSDME-related condition OMIM
ClinVar		 PMID:7427029 PMID:15173223 PMID:17427029 PMID:24033266 PMID:25741868 More... NCBI chr21:33,611,068...33,671,497
Ensembl chr21:33,612,013...33,672,461 		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: CHROMOSOME 9q21.11 DUPLICATION SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar PMID:20602916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr12:80,224,497...80,358,495
Ensembl chr12:80,307,380...80,358,584 		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 chr12:23,182,856...23,427,092
Ensembl chr12:23,184,704...23,427,165 		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 chr12:24,457,616...24,556,194
Ensembl chr12:24,457,738...24,556,451 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr12:24,646,797...24,684,341
Ensembl chr12:24,647,412...24,678,466 		JBrowse link
autosomal dominant nonsyndromic deafness 58 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNRIP1 cannabinoid receptor interacting protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr14:38,768,496...38,792,368
Ensembl chr14:38,769,105...38,792,412 		JBrowse link
G PLEK pleckstrin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr14:38,689,387...38,769,090
Ensembl chr14:38,689,393...38,745,893 		JBrowse link
G PPP3R1 protein phosphatase 3 regulatory subunit B, alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 58 ClinVar PMID:36553541 NCBI chr14:38,832,976...38,907,425
Ensembl chr14:38,832,809...38,905,321 		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:1161832 PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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: DIABLO-related condition ClinVar PMID:24033266 PMID:28492532 NCBI chr11:117,552,133...117,555,112 JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: DIABLO-related condition OMIM
ClinVar		 PMID:24033266 PMID:28492532 NCBI chr11:117,555,328...117,580,419
Ensembl chr11:117,552,145...117,579,553 		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 chr 5:2,302,249...2,336,188
Ensembl chr 5:2,302,341...2,335,270 		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 chr 5:2,353,543...2,378,950 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 | ClinVar Annotator: match by term: CD164-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26197441 PMID:28492532 NCBI chr13:64,482,079...64,498,540
Ensembl chr13:64,481,790...64,499,135 		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 chr 2:1,944,382...2,001,390
Ensembl chr 2:1,945,383...2,001,353 		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 | ClinVar Annotator: match by term: HOMER2-related condition OMIM
ClinVar		 PMID:25741868 PMID:25816005 PMID:26467025 PMID:28492532 PMID:30047143 More... NCBI chr29:2,667,718...2,810,238
Ensembl chr29:2,706,134...2,803,372 		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 chr11:83,856,149...83,943,095
Ensembl chr11:83,856,157...83,943,083 		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 | ClinVar Annotator: match by term: LMX1A-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29754270 PMID:30311386 PMID:32840933 More... NCBI chr25:63,533,442...63,688,124
Ensembl chr25:63,640,244...63,686,106 		JBrowse link
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCM2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 70 | ClinVar Annotator: match by term: MCM2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26196677 PMID:26467025 PMID:28492532 PMID:29706348 More... NCBI chr22:53,419,958...53,452,720
Ensembl chr22:53,420,417...53,444,095 		JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 71 | ClinVar Annotator: match by term: Deafness, autosomal dominant 71 OMIM
ClinVar		 PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 More... NCBI chr26:31,750,419...31,922,022
Ensembl chr26:31,750,403...31,922,208 		JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC44A4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 72 | ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr17:40,142,349...40,158,024
Ensembl chr17:40,142,730...40,157,858 		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 | ClinVar Annotator: match by term: PTPRQ-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chr11:75,943,793...76,154,604
Ensembl chr11:75,943,260...76,154,083 		JBrowse link
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE1C phosphodiesterase 1C ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 74 | ClinVar Annotator: match by term: Deafness, autosomal dominant 74 | ClinVar Annotator: match by term: PDE1C-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29860631 NCBI chr21:26,094,604...26,712,127
Ensembl chr21:26,501,264...26,598,053 		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 | ClinVar Annotator: match by term: Deafness, autosomal dominant 75 OMIM
ClinVar		 PMID:9708738 PMID:11418595 PMID:12138177 PMID:12660246 PMID:12743606 More... NCBI chr28:14,154,962...14,289,110
Ensembl chr28:14,154,960...14,286,512 		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: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition OMIM
ClinVar		 PMID:25124451 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 More... NCBI chr15:47,919,807...48,031,158
Ensembl chr15:47,919,823...48,003,805 		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: ABCC1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31273342 NCBI chr 5:14,972,589...15,164,594
Ensembl chr 5:14,972,646...15,164,567 		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 | ClinVar Annotator: match by term: Deafness, autosomal dominant 78 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30740830 PMID:32294086 More... NCBI chr23:31,028,514...31,132,263
Ensembl chr23:31,029,026...31,132,289 		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 | ClinVar Annotator: match by term: Deafness, autosomal dominant 79 OMIM
ClinVar		 PMID:25741868 PMID:31972369 NCBI chr 7:31,021,144...31,186,564
Ensembl chr 7:31,019,361...31,186,584 		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 | ClinVar Annotator: match by term: Deafness, autosomal dominant 80 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29100090 PMID:29955957 PMID:30311386 More... NCBI chr18:58,960,397...59,104,188
Ensembl chr18:58,963,914...59,103,993 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		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 | ClinVar Annotator: match by term: ELMOD3-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29713870 NCBI chr14:21,765,160...21,803,774 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: Deafness, autosomal dominant 82 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30535804 NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220 		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 chr 4:66,445,687...66,548,595
Ensembl chr 4:66,445,901...66,549,142 		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 chr 3:90,709,348...90,893,610
Ensembl chr 3:90,709,298...90,887,360 		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 chr20:110,854,966...110,958,140
Ensembl chr20:110,854,758...110,960,529 		JBrowse link
autosomal dominant nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G THOC1 THO complex subunit 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 86 OMIM
ClinVar		 PMID:25741868 PMID:32776944 NCBI chr18:59,624,623...59,676,133
Ensembl chr18:59,624,729...59,676,117 		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 Annotator: match by term: PI4KB-related condition ClinVar
OMIM		 PMID:33358777 NCBI chr20:12,358,758...12,395,372
Ensembl chr20:12,358,762...12,394,661 		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 chr20:95,094,971...95,145,264
Ensembl chr20:95,098,283...95,142,863 		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: ATOH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 89 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33111345 NCBI chr 7:42,098,057...42,104,910
Ensembl chr 7:42,100,996...42,102,060 		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: COCH-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 Ensembl chr24:7,734,850...7,750,814 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:26841241 PMID:28492532 PMID:29880844 PMID:34788109 NCBI chr 9:25,635,918...25,902,552 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 chr21:18,551,273...18,688,889
Ensembl chr21:18,553,446...18,688,525 		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 OMIM
ClinVar		 PMID:1161832 PMID:3126496 PMID:3478949 PMID:9536098 PMID:9771706 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		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 chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504 		JBrowse link
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 NCBI chr 1:63,313,971...63,317,170
Ensembl chr 1:63,314,274...63,315,664 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO OMIM:607197 MouseDO NCBI chr14:36,149,074...36,179,145
Ensembl chr14:36,149,006...36,177,671 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 PMID:16935888 More... NCBI chr20:77,943,853...77,960,883
Ensembl chr20:77,940,881...77,955,094 		JBrowse link
G C9H10orf105 chromosome 9 C10orf105 homolog ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr 1:6,741,202...6,744,931 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 chr 9:59,475,126...59,893,824 JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30311386 NCBI chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342 		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:24033266 PMID:25741868 PMID:26214305 PMID:26426422 More... NCBI chr26:5,222,657...5,248,133
Ensembl chr26:5,222,902...5,248,191 		JBrowse link
G CLCC1 chloride channel CLIC like 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr20:24,627,309...24,657,684
Ensembl chr20:24,610,854...24,655,653 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 More... NCBI chr 2:80,457,907...80,535,855
Ensembl chr 2:80,458,270...80,458,989 		JBrowse link
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr17:26,231,192...26,364,076
Ensembl chr17:26,231,728...26,343,346 		JBrowse link
G DYSF dysferlin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:28492532 NCBI chr14:35,488,393...35,715,222
Ensembl chr14:35,488,391...35,651,395 		JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731 		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 chr11:15,522,761...15,691,343
Ensembl chr11:15,522,616...15,691,133 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr20:125,282,283...125,320,436
Ensembl chr20:125,278,313...125,320,365 		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 chr24:53,630,998...53,762,098 JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 6:3,345,218...3,349,422
Ensembl chr 6:3,345,595...3,349,176 		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 chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr20:98,100,285...98,106,517
Ensembl chr20:98,102,413...98,103,225 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:35802133 PMID:37074134 NCBI chr16:60,630,505...60,664,596
Ensembl chr16:60,630,509...60,646,133 		JBrowse link
G GPR156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:37814107 NCBI chr22:60,520,726...60,654,971
Ensembl chr22:60,565,094...60,653,271 		JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20602914 PMID:22578326 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr20:24,659,470...24,713,714
Ensembl chr20:24,659,957...24,713,677 		JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20137778 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr27:7,300,259...7,436,241
Ensembl chr27:7,300,376...7,435,093 		JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr23:48,443,668...48,457,079
Ensembl chr23:48,443,748...48,456,614 		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:28492532 PMID:30303587 NCBI chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 More... NCBI chr 5:61,113,215...61,133,093
Ensembl chr 5:61,113,213...61,132,995 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 NCBI chr20:3,873,915...3,907,587
Ensembl chr20:3,902,513...3,903,652 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 More... NCBI chr17:36,295,612...36,313,964
Ensembl chr17:36,298,479...36,313,490 		JBrowse link
G LOC103243271 leucine-rich repeat-containing protein 37A ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:35802133 PMID:37074134 NCBI chr16:59,592,891...59,634,813 JBrowse link
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:24033266 PMID:25741868 More... NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532 		JBrowse link
G LRRC51 leucine rich repeat containing 51 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 1:63,284,632...63,299,924
Ensembl chr 1:63,293,676...63,302,691 		JBrowse link
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:30303587 NCBI chr 4:65,501,979...65,532,345
Ensembl chr 4:65,506,474...65,535,566 		JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:21270786 PMID:25741868 PMID:27981572 PMID:28492532 PMID:29961571 More... NCBI chr 1:109,635,053...109,645,142
Ensembl chr 1:109,633,493...109,645,145 		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 chr11:60,970,103...61,157,950
Ensembl chr11:60,969,985...61,154,356 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		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:9536098 PMID:16199547 PMID:17546645 PMID:17576681 PMID:19309289 More... NCBI chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009 		JBrowse link
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 NCBI chr 9:25,635,918...25,902,552 JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr13:527,361...620,418
Ensembl chr13:457,495...618,858 		JBrowse link
G MYO7A myosin VIIA ISO 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 chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr 5:20,184,525...20,278,438
Ensembl chr 5:20,198,412...20,278,433 		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:19461658 More... NCBI chr14:81,080,077...81,187,769
Ensembl chr14:81,080,462...81,186,697 		JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 PMID:30311386 NCBI chr 1:47,323,579...47,428,029
Ensembl chr 1:47,325,745...47,425,607 		JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr11:75,717,176...75,882,627
Ensembl chr11:75,729,405...75,881,334 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:20440071 PMID:25741868 PMID:28492532 PMID:29048736 PMID:30311386 More... NCBI chr 9:94,026,036...94,049,043 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:24033266 More... NCBI chr10:64,004,113...64,013,025
Ensembl chr10:64,005,259...64,014,571 		JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr23:48,915,247...48,920,163
Ensembl chr23:48,917,217...48,918,548 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:63,982,784...64,003,919 JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:59,440,327...59,474,773
Ensembl chr 9:59,440,311...59,474,986 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 PMID:30311386 NCBI chr11:75,943,793...76,154,604
Ensembl chr11:75,943,260...76,154,083 		JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 NCBI chr 1:101,554,640...101,647,765
Ensembl chr 1:101,554,334...101,623,093 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO 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 chr21:76,578,035...76,631,725
Ensembl chr21:76,578,665...76,633,165 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr21:72,347,276...72,418,311
Ensembl chr21:72,347,792...72,393,765 		JBrowse link
G TMC1 transmembrane channel like 1 ISO 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 chr12:83,672,786...83,883,985
Ensembl chr12:83,735,988...83,877,251 		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:28492532 More... NCBI chr22:8,114,995...8,133,827 JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO 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:17551081 More... NCBI chr 2:86,248,792...86,273,715
Ensembl chr 2:86,245,507...86,272,196 		JBrowse link
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO OMIM:607197 MouseDO NCBI chr 3:79,228,673...79,299,249
Ensembl chr 3:79,228,571...79,293,006 		JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:20642360 PMID:38374469 NCBI chr14:78,551,667...78,623,546
Ensembl chr14:78,551,807...78,609,848 		JBrowse link
G TOMT transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 1:63,307,538...63,313,596
Ensembl chr 1:63,310,262...63,313,293 		JBrowse link
G TPRN taperin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20170899 PMID:30303587 NCBI chr12:988,225...997,914 JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16385457 PMID:16385458 PMID:20510926 PMID:24033266 PMID:25741868 More... NCBI chr19:20,447,340...20,476,669 JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		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 chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682 		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 chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr12:25,087,286...25,189,982
Ensembl chr12:25,087,295...25,189,985 		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 | ClinVar Annotator: match by term: PPIP5K2-related condition OMIM
ClinVar		 PMID:15538632 PMID:25741868 PMID:29590114 NCBI chr23:6,562,435...6,639,330
Ensembl chr23:6,571,657...6,641,002 		JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 101 | ClinVar Annotator: match by term: GRXCR2-related condition OMIM
ClinVar		 PMID:24619944 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr23:48,443,668...48,457,079
Ensembl chr23:48,443,748...48,456,614 		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 | ClinVar Annotator: match by term: EPS8-related condition OMIM
ClinVar		 PMID:24033266 PMID:24741995 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr11:15,522,761...15,691,343
Ensembl chr11:15,522,616...15,691,133 		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: CLIC5-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 103 OMIM
ClinVar		 PMID:24033266 PMID:24781754 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr17:26,231,192...26,364,076
Ensembl chr17:26,231,728...26,343,346 		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 chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G RIPOR2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition OMIM
ClinVar		 PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:47,197,067...47,441,413
Ensembl chr17:47,308,984...47,451,779 		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 chr11:15,522,761...15,691,343
Ensembl chr11:15,522,616...15,691,133 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 | ClinVar Annotator: match by term: Deafness, autosomal recessive 106 | ClinVar Annotator: match by term: EPS8L2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26282398 PMID:28281779 More... NCBI chr 1:523,811...540,781
Ensembl chr 1:523,524...540,803 		JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WBP2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 107 | ClinVar Annotator: match by term: WBP2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26881968 PMID:28492532 NCBI chr16:45,821,875...45,836,558
Ensembl chr16:45,821,967...45,835,530 		JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROR1 receptor tyrosine kinase like orphan receptor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 108 | ClinVar Annotator: match by term: ROR1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:27162350 PMID:28492532 NCBI chr20:68,910,736...69,318,775
Ensembl chr20:68,910,751...68,954,618 		JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 109 ClinVar PMID:8938442 PMID:9671269 PMID:9837819 PMID:10502777 PMID:11857545 More... NCBI chr 3:29,817,712...29,899,302
Ensembl chr 3:29,816,860...29,899,077 		JBrowse link
G ESRP1 epithelial splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 109 | ClinVar Annotator: match by term: ESRP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29107558 NCBI chr 8:89,609,723...89,679,035
Ensembl chr 8:89,608,014...89,679,037 		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 | ClinVar Annotator: match by term: Deafness, autosomal recessive 110 OMIM
ClinVar		 PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... Ensembl chr24:7,734,850...7,750,814 JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 111 | ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition OMIM
ClinVar		 PMID:21270786 PMID:25741868 PMID:27981572 PMID:28492532 PMID:29961571 More... NCBI chr 1:109,635,053...109,645,142
Ensembl chr 1:109,633,493...109,645,145 		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 BDP1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: BDP1-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 112 | ClinVar Annotator: match by term: Deafness, autosomal recessive 112 OMIM
ClinVar		 PMID:24312468 PMID:25741868 PMID:26467025 NCBI chr 4:65,815,105...65,925,928
Ensembl chr 4:65,814,993...65,914,253 		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 chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342 		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: Hearing loss, autosomal recessive 114 OMIM
ClinVar		 PMID:25741868 PMID:30610177 NCBI chr16:17,721,294...17,747,366
Ensembl chr16:17,720,269...17,747,319 		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: Hearing loss, autosomal recessive 115 | ClinVar Annotator: match by term: SPNS2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr16:3,978,262...4,019,950
Ensembl chr16:3,978,845...4,022,678 		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: CLDN9-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 116 OMIM
ClinVar		 PMID:25741868 PMID:30311386 PMID:31175426 PMID:34265170 PMID:35802133 More... NCBI chr 5:2,755,023...2,757,879
Ensembl chr 5:2,756,747...2,757,400 		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 chr27:32,681,525...32,695,858
Ensembl chr27:32,682,435...32,694,564 		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 AAA ATPase AFG2B ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar		 PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 PMID:37902276 More... NCBI chr26:37,793,373...37,812,921
Ensembl chr26:37,793,379...37,811,582 		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: ATP2B2-related condition | ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:15829536 PMID:22047666 PMID:25741868 PMID:26467025 PMID:27535533 More... NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220 		JBrowse link
G C9H10orf105 chromosome 9 C10orf105 homolog ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		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 OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 9:59,475,126...59,893,824 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 chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 9:59,440,327...59,474,773
Ensembl chr 9:59,440,311...59,474,986 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:25741868 NCBI chr 9:59,516,012...59,538,628
Ensembl chr 9:59,516,073...59,542,242 		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 chr23:32,655,661...32,672,945
Ensembl chr23:32,655,735...32,674,117 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chr25:1,356,567...1,520,517
Ensembl chr25:1,366,179...1,514,668 		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 chr22:60,520,726...60,654,971
Ensembl chr22:60,565,094...60,653,271 		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 chr 3:79,228,673...79,299,249
Ensembl chr 3:79,228,571...79,293,006 		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 chr 5:27,725,121...27,734,442
Ensembl chr 5:27,724,495...27,732,736 		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 chr 8:104,072,701...104,230,809
Ensembl chr 8:104,073,327...104,230,960 		JBrowse link
autosomal recessive nonsyndromic deafness 125 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAS2 growth arrest specific 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 125 OMIM
ClinVar		 PMID:33964205 NCBI chr 1:42,201,546...42,376,934 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 | ClinVar Annotator: match by term: GIPC3-related condition OMIM
ClinVar		 PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:23510777 More... NCBI chr 6:3,345,218...3,349,422
Ensembl chr 6:3,345,595...3,349,176 		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 chr26:39,349,237...39,378,269
Ensembl chr26:39,350,886...39,368,945 		JBrowse link
G FRMD5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr26:38,847,310...39,179,487
Ensembl chr26:39,119,525...39,170,954 		JBrowse link
G LOC103246095 creatine kinase U-type, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr26:39,397,797...39,401,046 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 chr26:39,273,982...39,300,170
Ensembl chr26:39,272,997...39,349,966 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr26:39,407,553...39,467,126 JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 16 | 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 chr26:39,376,441...39,397,613
Ensembl chr26:39,378,318...39,401,072 		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 Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682 		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 | ClinVar Annotator: match by term: USH1C-related condition OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18A ClinVar PMID:25741868 PMID:28492532 NCBI chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682 		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 chr 1:47,323,579...47,428,029
Ensembl chr 1:47,325,745...47,425,607 		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 chr 3:567,937...704,109
Ensembl chr 3:567,931...688,388 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:352,063...418,220
Ensembl chr 3:352,114...395,586 		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:25741868 PMID:29572252 PMID:30820731 PMID:30871974 More... NCBI chr 4:57,048,262...57,128,338
Ensembl chr 4:57,045,018...57,128,307 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:820,352...852,003
Ensembl chr 3:846,982...848,286 		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 chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 OMIM
ClinVar		 PMID:10798362 PMID:12791041 PMID:19050930 PMID:24033266 PMID:25741868 More... NCBI chr20:98,100,285...98,106,517
Ensembl chr20:98,102,413...98,103,225 		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 chr20:98,125,073...98,126,343
Ensembl chr20:98,125,345...98,126,145 		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:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr 3:775,410...783,770
Ensembl chr 3:782,251...783,036 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:401,525...421,725 JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:242,281...348,298
Ensembl chr 3:301,551...343,468 		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 chr 3:567,937...704,109
Ensembl chr 3:567,931...688,388 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:352,063...418,220
Ensembl chr 3:352,114...395,586 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:820,352...852,003
Ensembl chr 3:846,982...848,286 		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 chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 1B | ClinVar Annotator: match by term: Deafness, autosomal recessive 1b OMIM
ClinVar		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr 3:775,410...783,770
Ensembl chr 3:782,251...783,036 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:401,525...421,725 JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:242,281...348,298
Ensembl chr 3:301,551...343,468 		JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 OMIM
ClinVar		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 ClinVar PMID:10700480 PMID:11932316 PMID:14508505 PMID:16570074 PMID:16950989 More... NCBI chr21:76,578,035...76,631,725
Ensembl chr21:76,578,665...76,633,165 		JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition OMIM
ClinVar		 PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 More... NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647 		JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGSF6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 5:20,161,470...20,173,337
Ensembl chr 5:20,162,102...20,172,714 		JBrowse link
G METTL9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 5:20,128,112...20,177,591
Ensembl chr 5:20,128,176...20,175,564 		JBrowse link
G NPIPB4 nuclear pore complex interacting protein family member B4 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 5:18,847,024...18,859,677 JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 22 | ClinVar Annotator: match by term: OTOA-related condition OMIM
ClinVar		 PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 More... NCBI chr 5:20,184,525...20,278,438
Ensembl chr 5:20,198,412...20,278,433 		JBrowse link
G UQCRC2 ubiquinol-cytochrome c reductase core protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 5:19,622,884...19,653,667
Ensembl chr 5:19,623,410...19,653,479 		JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO OMIM NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RDX radixin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 24 | ClinVar Annotator: match by term: RDX-related condition OMIM
ClinVar		 PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 1:101,554,640...101,647,765
Ensembl chr 1:101,554,334...101,623,093 		JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: GRXCR1-related condition OMIM
ClinVar		 PMID:20137774 PMID:20137778 PMID:24033266 PMID:25741868 PMID:26226137 More... NCBI chr27:7,300,259...7,436,241
Ensembl chr27:7,300,376...7,435,093 		JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAB1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 OMIM
ClinVar		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr 7:90,197,374...90,323,024
Ensembl chr 7:90,197,620...90,322,077 		JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIO trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 28 ClinVar PMID:18452394 PMID:25741868 PMID:28492532 PMID:32109419 NCBI chr 4:13,846,753...14,214,647
Ensembl chr 4:13,847,936...14,215,164 		JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 28 | ClinVar Annotator: match by term: TRIOBP-related condition OMIM
ClinVar		 PMID:16199547 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 More... NCBI chr19:20,447,340...20,476,669 JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: CLDN14-related condition OMIM
ClinVar		 PMID:22246673 PMID:23235333 PMID:23590985 PMID:24033266 PMID:25741868 More... NCBI chr 2:80,457,907...80,535,855
Ensembl chr 2:80,458,270...80,458,989 		JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COASY Coenzyme A synthase ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 ClinVar PMID:28492532 NCBI chr16:63,721,240...63,725,854
Ensembl chr16:63,721,259...63,724,892 		JBrowse link
G KIFBP kinesin family binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:62,305,387...62,336,165
Ensembl chr 9:62,305,368...62,336,103 		JBrowse link
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 ClinVar PMID:25008054 PMID:28492532 PMID:33111345 NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 OMIM
ClinVar		 PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 More... NCBI chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 ClinVar PMID:25741868 NCBI chr14:81,080,077...81,187,769
Ensembl chr14:81,080,462...81,186,697 		JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: MYO3A-related condition OMIM
ClinVar		 PMID:12032315 PMID:16199547 PMID:23990876 PMID:24033266 PMID:25741868 More... NCBI chr 9:25,635,918...25,902,552 JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WHRN whirlin ISO ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF | ClinVar Annotator: match by term: WHRN-related condition OMIM
ClinVar		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:16199547 More... NCBI chr12:25,087,286...25,189,982
Ensembl chr12:25,087,295...25,189,985 		JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC14A cell division cycle 14A ISO ClinVar Annotator: match by term: CDC14A-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32 OMIM
ClinVar		 PMID:12634867 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27259055 More... NCBI chr20:32,822,748...32,987,739
Ensembl chr20:32,822,746...32,986,718 		JBrowse link
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESRRB estrogen related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 35 | ClinVar Annotator: match by term: ESRRB-related condition OMIM
ClinVar		 PMID:12529709 PMID:16199547 PMID:18179891 PMID:22951369 PMID:23767834 More... NCBI chr24:53,630,998...53,762,098 JBrowse link
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESPN espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant OMIM
ClinVar		 PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 More... NCBI chr20:125,282,283...125,320,436
Ensembl chr20:125,278,313...125,320,365 		JBrowse link
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO ClinVar Annotator: match by term: MYO6-related condition OMIM
ClinVar		 PMID:9536098 PMID:12687499 PMID:16199547 PMID:17576681 PMID:18212818 More... NCBI chr13:527,361...620,418
Ensembl chr13:457,495...618,858 		JBrowse link
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGF hepatocyte growth factor ISO ClinVar Annotator: match by term: HGF-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504 		JBrowse link
autosomal recessive nonsyndromic deafness 4 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 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342 		JBrowse link
G FOXI1 forkhead box I1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: FOXI1-related condition OMIM
ClinVar		 PMID:17503324 PMID:20621367 PMID:20809947 PMID:22285650 PMID:24860705 More... NCBI chr23:72,319,377...72,324,442
Ensembl chr23:72,321,483...72,325,532 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: KCNJ10-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-related disorder | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-related disorder | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder 		OMIM
ClinVar		 PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 More... NCBI chr20:3,873,915...3,907,587
Ensembl chr20:3,902,513...3,903,652 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct ClinVar PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 More... NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-related disorder | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: FOXI1-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 		OMIM
ClinVar		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... NCBI chr21:76,578,035...76,631,725
Ensembl chr21:76,578,665...76,633,165 		JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: ILDR1-related condition OMIM
ClinVar		 PMID:21255762 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303 		JBrowse link
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY1 adenylate cyclase 1 ISO ClinVar Annotator: match by term: ADCY1-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 44 OMIM
ClinVar		 PMID:15583425 PMID:21270786 PMID:24033266 PMID:24482543 PMID:24824130 More... NCBI chr21:12,976,687...13,117,876
Ensembl chr21:12,979,033...13,117,730 		JBrowse link
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: CIB2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 48 OMIM
ClinVar		 PMID:2911222 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 More... NCBI chr26:5,222,657...5,248,133
Ensembl chr26:5,222,902...5,248,191 		JBrowse link
G SH2D7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 48 ClinVar PMID:25741868 NCBI chr26:5,247,866...5,260,659
Ensembl chr26:5,249,265...5,260,145 		JBrowse link
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 | ClinVar Annotator: match by term: MARVELD2-related condition OMIM
ClinVar		 PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 More... NCBI chr 4:65,501,979...65,532,345
Ensembl chr 4:65,506,474...65,535,566 		JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO OMIM NCBI chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625 		JBrowse link
autosomal recessive nonsyndromic deafness 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57 | ClinVar Annotator: match by term: Deafness, autosomal recessive 57 OMIM
ClinVar		 PMID:16199547 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 More... NCBI chr 9:94,026,036...94,049,043 JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PJVK pejvakin ISO OMIM NCBI chr10:64,004,113...64,013,025
Ensembl chr10:64,005,259...64,014,571 		JBrowse link
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 | ClinVar Annotator: match by term: TMIE-related condition OMIM
ClinVar		 PMID:8593615 PMID:12145746 PMID:16389551 PMID:19438934 PMID:24033266 More... NCBI chr22:8,114,995...8,133,827 JBrowse link
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61 | ClinVar Annotator: match by term: SLC26A5-related condition OMIM
ClinVar		 PMID:12239568 PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 More... NCBI chr21:72,347,276...72,418,311
Ensembl chr21:72,347,792...72,393,765 		JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 63 | ClinVar Annotator: match by term: LRTOMT-related condition ClinVar PMID:24033266 PMID:25741868 PMID:25788562 PMID:26467025 PMID:28492532 More... NCBI chr 1:63,313,971...63,317,170
Ensembl chr 1:63,314,274...63,315,664 		JBrowse link
G LRRC51 leucine rich repeat containing 51 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 63 | ClinVar Annotator: match by term: LRTOMT-related condition ClinVar PMID:24033266 PMID:25741868 NCBI chr 1:63,284,632...63,299,924
Ensembl chr 1:63,293,676...63,302,691 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 63 ClinVar NCBI chr 1:63,204,968...63,284,673
Ensembl chr 1:63,202,913...63,273,774 		JBrowse link
G TOMT transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 63 | ClinVar Annotator: match by term: LRTOMT-related condition ClinVar PMID:9536098 PMID:17211611 PMID:17576681 PMID:18794526 PMID:18953341 More... NCBI chr 1:63,307,538...63,313,596
Ensembl chr 1:63,310,262...63,313,293 		JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 66 OMIM
ClinVar		 PMID:16199547 PMID:16244493 PMID:23677054 PMID:23746548 PMID:25557784 More... NCBI chr17:47,880,282...48,065,686
Ensembl chr17:47,881,346...48,066,436 		JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 67 | ClinVar Annotator: match by term: LHFPL5-related condition OMIM
ClinVar		 PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:27148795 More... NCBI chr17:36,295,612...36,313,964
Ensembl chr17:36,298,479...36,313,490 		JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1PR2 sphingosine-1-phosphate receptor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 68 | ClinVar Annotator: match by term: S1PR2-related condition OMIM
ClinVar		 PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26467025 More... NCBI chr 6:9,281,130...9,291,705
Ensembl chr 6:9,283,529...9,284,590 		JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar PMID:10449658 PMID:22578326 PMID:22987632 PMID:23208854 PMID:23494849 More... NCBI chr20:24,659,470...24,713,714
Ensembl chr20:24,659,957...24,713,677 		JBrowse link
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar PMID:35802133 PMID:36633841 NCBI chr 5:20,184,525...20,278,438
Ensembl chr 5:20,198,412...20,278,433 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 OMIM
ClinVar		 PMID:9536098 PMID:11850618 PMID:15605408 PMID:16134132 PMID:16199547 More... NCBI chr12:83,672,786...83,883,985
Ensembl chr12:83,735,988...83,877,251 		JBrowse link
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPT1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 70 OMIM
ClinVar		 PMID:11080643 PMID:23084290 PMID:23084291 PMID:24088041 PMID:25326635 More... NCBI chr14:51,211,385...51,267,706
Ensembl chr14:51,211,118...51,267,098 		JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSRB3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: MSRB3-related condition OMIM
ClinVar		 PMID:24033266 PMID:28492532 NCBI chr11:60,970,103...61,157,950
Ensembl chr11:60,969,985...61,154,356 		JBrowse link
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNE4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 76 | ClinVar Annotator: match by term: SYNE4-related condition | ClinVar Annotator: match by term: SYNE4-related hearing loss OMIM
ClinVar		 PMID:16199547 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:30,914,081...30,920,154
Ensembl chr 6:30,914,119...30,919,752 		JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 77 | ClinVar Annotator: match by term: LOXHD1-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16936105 PMID:17576681 PMID:19732867 More... NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532 		JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TPRN taperin ISO ClinVar Annotator: match by term: TPRN-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:988,225...997,914 JBrowse link
autosomal recessive nonsyndromic deafness 8 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 recessive 10 ClinVar PMID:25741868 NCBI chr20:98,100,285...98,106,517
Ensembl chr20:98,102,413...98,103,225 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8 | ClinVar Annotator: match by term: TMPRSS3-related condition OMIM
ClinVar		 PMID:3285355 PMID:3459936 PMID:9536098 PMID:11137999 PMID:11424922 More... NCBI chr 2:86,248,792...86,273,715
Ensembl chr 2:86,245,507...86,272,196 		JBrowse link
autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION OMIM
ClinVar		 PMID:20346435 PMID:25557914 PMID:25741868 PMID:26467025 PMID:29309402 More... NCBI chr11:75,943,793...76,154,604
Ensembl chr11:75,943,260...76,154,083 		JBrowse link
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 84b | ClinVar Annotator: match by term: OTOGL-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23122586 PMID:23850727 More... NCBI chr11:75,717,176...75,882,627
Ensembl chr11:75,729,405...75,881,334 		JBrowse link
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNF cyclin F ISO ClinVar Annotator: match by term: Deafness , autosomal recessive 86 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr 5:2,302,249...2,336,188
Ensembl chr 5:2,302,341...2,335,270 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Deafness , autosomal recessive 86 | ClinVar Annotator: match by term: Deafness, autosomal recessive 86 OMIM
ClinVar		 PMID:22211675 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 More... NCBI chr 5:2,353,543...2,378,950 JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELMOD3 ELMO domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 88 OMIM
ClinVar		 PMID:24039609 PMID:25741868 PMID:28492532 NCBI chr14:21,765,160...21,803,774 JBrowse link
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 89 OMIM
ClinVar		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24033266 More... NCBI chr 5:61,113,215...61,133,093
Ensembl chr 5:61,113,213...61,132,995 		JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:18381613 PMID:28492532 NCBI chr25:73,827,900...73,904,516
Ensembl chr25:73,827,874...73,905,146 		JBrowse link
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:105,383,408...105,419,146
Ensembl chr  X:105,382,693...105,419,095 		JBrowse link
G CEP135 centrosomal protein 135 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:28866084 NCBI chr 7:12,585,566...12,668,476
Ensembl chr 7:12,585,791...12,664,888 		JBrowse link
G COQ8A coenzyme Q8A ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:24218524 PMID:25326637 PMID:26467025 PMID:28492532 PMID:32743982 More... NCBI chr25:2,780,593...2,827,565
Ensembl chr25:2,779,504...2,826,538 		JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr23:44,139,495...44,244,505
Ensembl chr23:44,139,360...44,244,490 		JBrowse link
G H1-4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:25741868 PMID:28475857 PMID:29704315 PMID:31130284 PMID:31400068 More... NCBI chr17:46,099,264...46,100,067
Ensembl chr17:46,099,330...46,099,986 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr10:83,003,266...83,017,397
Ensembl chr10:83,003,717...83,017,363 		JBrowse link
G IGSF6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 5:20,161,470...20,173,337
Ensembl chr 5:20,162,102...20,172,714 		JBrowse link
G METTL9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 5:20,128,112...20,177,591
Ensembl chr 5:20,128,176...20,175,564 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:28492532 PMID:28964305 NCBI chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:26467025 PMID:28492532 PMID:29952689 PMID:30201499 PMID:33884488 More... NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 5:20,184,525...20,278,438
Ensembl chr 5:20,198,412...20,278,433 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder | ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition OMIM
ClinVar		 PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 More... NCBI chr14:81,080,077...81,187,769
Ensembl chr14:81,080,462...81,186,697 		JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:91,671,535...91,687,693
Ensembl chr  X:91,671,878...91,687,878 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:105,421,709...105,437,206
Ensembl chr  X:105,424,290...105,437,169 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:91,716,741...91,727,167
Ensembl chr  X:91,719,610...91,720,212 		JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 PMID:28492532 NCBI chr16:16,717,767...16,847,014
Ensembl chr16:16,760,189...16,849,346 		JBrowse link
G SLC17A8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:27068579 PMID:28492532 NCBI chr11:95,673,205...95,740,037
Ensembl chr11:95,674,195...95,739,040 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 8:138,570,451...138,573,072
Ensembl chr 8:138,571,081...138,573,079 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 5:2,353,543...2,378,950 JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:24706558 PMID:24850488 PMID:24974158 PMID:25168210 PMID:25356970 More... NCBI chr 6:6,104,265...6,111,966
Ensembl chr 6:6,094,130...6,111,762 		JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINB6 serpin family B member 6 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91 | ClinVar Annotator: match by term: SERPINB6-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20451170 PMID:24033266 PMID:25741868 More... NCBI chr17:69,204,019...69,219,020
Ensembl chr17:69,207,684...69,219,016 		JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: CABP2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 93 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22981119 PMID:24033266 PMID:25741868 More... NCBI chr 1:6,741,202...6,744,931 JBrowse link
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 94 | ClinVar Annotator: match by term: NARS2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25807530 PMID:26402642 More... NCBI chr 1:69,647,713...69,778,390
Ensembl chr 1:69,643,531...69,778,361 		JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 97 OMIM
ClinVar		 PMID:9563489 PMID:9731534 PMID:10327054 PMID:12920089 PMID:14559814 More... NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093 		JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRTAP10-12 keratin associated protein 10-12 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:25741868
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 OMIM
ClinVar		 PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chr 2:88,219,663...88,425,531
Ensembl chr 2:88,221,529...88,287,701 		JBrowse link
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM132E transmembrane protein 132E ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 99 | ClinVar Annotator: match by term: Deafness, autosomal recessive 99 | ClinVar Annotator: match by term: TMEM132E-related condition OMIM
ClinVar		 PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr16:28,084,059...28,143,654
Ensembl chr16:28,130,442...28,142,561 		JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:140,780...169,416
Ensembl chr18:139,995...169,052 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:832,908...1,115,758
Ensembl chr18:830,771...1,115,876 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:479,476...549,546
Ensembl chr18:478,543...544,258 		JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:2,719,736...2,739,018 JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:288,772...294,717
Ensembl chr18:288,789...294,367 		JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:357,227...443,625
Ensembl chr18:357,515...397,183 		JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:2,844,154...2,996,640
Ensembl chr18:2,868,795...2,997,046 		JBrowse link
G MEA1 male-enhanced antigen 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:18414213 PMID:25434003 PMID:25533962 PMID:25741868 PMID:25741882 More... NCBI chr17:29,145,905...29,147,668
Ensembl chr17:29,145,918...29,149,953 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:690,313...815,804
Ensembl chr18:689,671...811,100 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:32,925...124,001 JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:18414213 PMID:25434003 PMID:25533962 PMID:25741868 PMID:25741882 More... NCBI chr17:29,147,560...29,175,700
Ensembl chr17:29,145,918...29,174,997 		JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:222,969...234,718
Ensembl chr18:223,214...234,696 		JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:1,154,033...1,174,030
Ensembl chr18:1,156,502...1,173,946 		JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:311,594...354,877
Ensembl chr18:312,237...353,058 		JBrowse link
G TXNL4A thioredoxin like 4A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition OMIM
ClinVar		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chr18:270,392...286,243
Ensembl chr18:270,938...285,966 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:3,002,133...3,173,924
Ensembl chr18:3,002,252...3,126,097 		JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:3,449,624...3,588,105
Ensembl chr18:3,504,027...3,583,816 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:2440678 PMID:8659547 PMID:16199547 PMID:20127975 PMID:22012259 More... NCBI chr22:30,747,747...30,971,951
Ensembl chr22:30,748,440...30,972,168 		JBrowse link
Congenital Myopathy with Neuropathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITGB4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness ClinVar PMID:25741868 NCBI chr16:45,926,543...45,962,967 JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness | ClinVar Annotator: match by term: SPTBN4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28540413 PMID:29861105 PMID:34440880 NCBI chr 6:34,926,413...35,036,611
Ensembl chr 6:34,930,519...35,035,719 		JBrowse link
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PSMC3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy OMIM
ClinVar		 PMID:32500975 NCBI chr 1:17,881,844...17,896,942 JBrowse link
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy OMIM
ClinVar		 PMID:21427441 PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 More... NCBI chr 5:61,113,215...61,133,093
Ensembl chr 5:61,113,213...61,132,995 		JBrowse link
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029 PMID:17546645 PMID:19274735 PMID:21270786 PMID:24033266 More... NCBI chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009 		JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BTK Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:89,690,569...89,727,420 JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Deafness dystonia syndrome OMIM
ClinVar		 PMID:8841189 PMID:9536098 PMID:10878669 PMID:11405816 PMID:11601506 More... NCBI chr  X:89,686,772...89,690,088
Ensembl chr  X:89,687,304...89,689,810 		JBrowse link
drug-induced hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIRT3 sirtuin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:36800006 NCBI chr 1:25,740...49,471
Ensembl chr 1:26,927...48,944 		JBrowse link
Fine-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDLBP high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr10:127,289,390...127,378,895
Ensembl chr10:127,288,331...127,378,986 		JBrowse link
G POR cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr28:10,145,070...10,230,836
Ensembl chr28:10,197,503...10,230,468 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 1:17,899,349...17,907,165
Ensembl chr 1:17,899,030...17,905,850 		JBrowse link
Hearing Loss, Cisplatin-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMK2A calcium/calmodulin dependent protein kinase II alpha treatment ISO RGD PMID:23558232 RGD:9685025 NCBI chr23:52,829,438...52,899,428
Ensembl chr23:52,829,350...52,899,375 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta treatment ISO RGD PMID:23558232 RGD:9685025 NCBI chr21:14,342,751...14,451,274
Ensembl chr21:14,342,892...14,451,282 		JBrowse link
G CAT catalase ISO protein:decreased expression:cochlear: RGD PMID:10220857 RGD:9197256 NCBI chr 1:30,792,533...30,828,920
Ensembl chr 1:30,792,399...30,829,592 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:19666099 RGD:10045579 NCBI chr22:60,732,449...61,002,735
Ensembl chr22:60,733,465...60,997,239 		JBrowse link
high myopia-sensorineural deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLITRK6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome | ClinVar Annotator: match by term: SLITRK6-related condition OMIM
ClinVar		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chr 3:64,808,716...64,822,519
Ensembl chr 3:64,809,920...64,812,442 		JBrowse link
Hypokalemic Tubulopathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KCNJ16 potassium inwardly rectifying channel subfamily J member 16 ISO ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness OMIM
ClinVar		 PMID:25741868 PMID:33811157 NCBI chr16:51,491,064...51,631,037
Ensembl chr16:51,493,340...51,494,596 		JBrowse link
Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AP1B1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome OMIM
ClinVar		 PMID:25741868 PMID:31630788 PMID:31630791 PMID:32969855 PMID:33349978 More... NCBI chr19:12,195,981...12,259,289
Ensembl chr19:12,195,755...12,259,272 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ITM2B integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica OMIM
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr 3:26,149,429...26,178,172
Ensembl chr 3:26,149,379...26,177,622 		JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC4 glypican 4 ISO ClinVar Annotator: match by term: GPC4-related condition | ClinVar Annotator: match by term: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:108,451,082...108,570,244
Ensembl chr  X:108,450,536...108,570,214 		JBrowse link
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: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:22567369 PMID:25741868 NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness OMIM
ClinVar		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24824130 More... NCBI chr 5:61,113,215...61,133,093
Ensembl chr 5:61,113,213...61,132,995 		JBrowse link
Muckle-Wells syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL1RN interleukin 1 receptor antagonist ISO RGD PMID:22146561 RGD:6906895 NCBI chr14:16,136,667...16,152,451
Ensembl chr14:16,146,333...16,151,326 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome OMIM
ClinVar		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr25:84,431,436...84,463,387
Ensembl chr25:84,434,527...84,463,249 		JBrowse link
multiple synostoses syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar PMID:25741868 NCBI chr 3:1,779,126...1,811,427
Ensembl chr 3:1,779,192...1,812,784 		JBrowse link
G GDF5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr 2:56,340,371...56,346,378
Ensembl chr 2:56,340,933...56,345,053 		JBrowse link
G NOG noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome OMIM
ClinVar		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... NCBI chr16:36,816,783...36,818,693
Ensembl chr16:36,817,476...36,818,174 		JBrowse link
nonsyndromic deafness 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: Non-syndromic genetic deafness ClinVar PMID:13680526 PMID:19477959 PMID:30311386 NCBI chr16:73,456,907...73,459,777 JBrowse link
G ALG10 ALG10 alpha-1,2-glucosyltransferase ISO MouseDO NCBI chr11:33,459,530...33,464,416 JBrowse link
G B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr11:117,552,133...117,555,112 JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:28492532 NCBI chr 1:6,741,202...6,744,931 JBrowse link
G CCDC50 coiled-coil domain containing 50 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:85,493,894...85,563,412
Ensembl chr15:85,494,157...85,556,827 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:15660226 PMID:16679490 PMID:17850630 PMID:18429043 PMID:19683999 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25589040 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342 		JBrowse link
G CGN cingulin ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 NCBI chr20:12,155,782...12,183,849 JBrowse link
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr 2:80,457,907...80,535,855
Ensembl chr 2:80,458,270...80,458,989 		JBrowse link
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 PMID:34265170 NCBI chr 5:2,755,023...2,757,879
Ensembl chr 5:2,756,747...2,757,400 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:9931344 PMID:10400989 PMID:11332404 PMID:14512963 PMID:16151338 More... Ensembl chr24:7,734,850...7,750,814 JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:24033266 PMID:25633957 PMID:25741868 PMID:28492532 NCBI chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:28492532 PMID:30311386 NCBI chr  X:96,307,927...96,570,592 JBrowse link
G CRYL1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11807148 PMID:12917317 PMID:14571368 PMID:14681039 PMID:15994881 More... NCBI chr 3:567,937...704,109
Ensembl chr 3:567,931...688,388 		JBrowse link
G DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:16244493 PMID:25601850 NCBI chr17:47,880,282...48,065,686
Ensembl chr17:47,881,346...48,066,436 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr11:117,555,328...117,580,419
Ensembl chr11:117,552,145...117,579,553 		JBrowse link
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr26:31,750,419...31,922,022
Ensembl chr26:31,750,403...31,922,208 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:30311386 NCBI chr13:39,988,427...40,271,862
Ensembl chr13:40,001,261...40,272,592 		JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr 6:3,345,218...3,349,422
Ensembl chr 6:3,345,595...3,349,176 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr20:98,100,285...98,106,517
Ensembl chr20:98,102,413...98,103,225 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11807148 PMID:12917317 PMID:14571368 PMID:14681039 PMID:15994881 More... NCBI chr 3:775,410...783,770
Ensembl chr 3:782,251...783,036 		JBrowse link
G GSDME gasdermin E ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:7427029 PMID:15173223 PMID:17427029 PMID:24033266 PMID:28492532 More... NCBI chr21:33,611,068...33,671,497
Ensembl chr21:33,612,013...33,672,461 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:21181198 PMID:23768514 PMID:24824130 PMID:25741868 NCBI chr 5:61,113,215...61,133,093
Ensembl chr 5:61,113,213...61,132,995 		JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8035838 PMID:10025409 PMID:10369879 PMID:18786918 PMID:20832469 More... NCBI chr20:92,083,015...92,139,810
Ensembl chr20:92,083,013...92,139,728 		JBrowse link
G KLC2 kinesin light chain 2 ISO MouseDO NCBI chr 1:7,999,113...8,009,543 JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:23541342 PMID:28492532 PMID:30311386 PMID:30737337 NCBI chr22:6,861,105...7,021,325
Ensembl chr22:6,861,006...7,020,009 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr17:36,295,612...36,313,964
Ensembl chr17:36,298,479...36,313,490 		JBrowse link
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11087000 PMID:12162770 PMID:12746400 PMID:16718611 PMID:17431902 More... NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:19732867 PMID:21465660 PMID:22975204 PMID:23226338 PMID:24033266 More... NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive ClinVar PMID:25741868 PMID:25941349 PMID:28492532 NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093 		JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8659547 PMID:20127975 PMID:25741868 PMID:28492532 PMID:28690485 More... NCBI chr22:30,747,747...30,971,951
Ensembl chr22:30,748,440...30,972,168 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Nonsyndromic hearing impairment ClinVar PMID:28492532 NCBI chr12:66,275,725...66,450,398
Ensembl chr12:66,304,514...66,449,110 		JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr27:41,028,763...41,032,676
Ensembl chr27:41,028,919...41,033,006 		JBrowse link
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr 6:43,270,363...43,372,927
Ensembl chr 6:43,275,715...43,372,190 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:7704031 PMID:9603736 PMID:11735029 PMID:17546645 PMID:19274735 More... NCBI chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009 		JBrowse link
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr 9:25,635,918...25,902,552 JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:12687499 PMID:18348273 PMID:23767834 PMID:24033266 PMID:25080041 More... NCBI chr13:527,361...620,418
Ensembl chr13:457,495...618,858 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8900236 PMID:9382091 PMID:10094549 PMID:10930322 PMID:15028842 More... NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:20,184,525...20,278,438
Ensembl chr 5:20,198,412...20,278,433 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8789454 PMID:10192385 PMID:10903124 PMID:12114484 PMID:12127154 More... NCBI chr14:81,080,077...81,187,769
Ensembl chr14:81,080,462...81,186,697 		JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:24033266 NCBI chr 1:47,323,579...47,428,029
Ensembl chr 1:47,325,745...47,425,607 		JBrowse link
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:16199547 PMID:23122586 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr11:75,717,176...75,882,627
Ensembl chr11:75,729,405...75,881,334 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28281779 PMID:28492532 NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 PMID:30311386 NCBI chr 9:94,026,036...94,049,043 JBrowse link
G POU3F4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:33976695 NCBI chr  X:72,379,656...72,381,186
Ensembl chr  X:72,379,979...72,381,064 		JBrowse link
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO MouseDO NCBI chr23:6,562,435...6,639,330
Ensembl chr23:6,571,657...6,641,002 		JBrowse link
G RDX radixin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr 1:101,554,640...101,647,765
Ensembl chr 1:101,554,334...101,623,093 		JBrowse link
G RIPOR2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr17:47,197,067...47,441,413
Ensembl chr17:47,308,984...47,451,779 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:15355436 PMID:16570074 PMID:19017801 PMID:19509082 PMID:21045265 More... NCBI chr21:76,578,035...76,631,725
Ensembl chr21:76,578,665...76,633,165 		JBrowse link
G SLC44A4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr17:40,142,349...40,158,024
Ensembl chr17:40,142,730...40,157,858 		JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 PMID:29425068 More... NCBI chr26:39,376,441...39,397,613
Ensembl chr26:39,378,318...39,401,072 		JBrowse link
G SYNE4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:16199547 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:30,914,081...30,920,154
Ensembl chr 6:30,914,119...30,919,752 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human) RGD PMID:26371875 RGD:11098120 NCBI chr 5:2,353,543...2,378,950 JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr14:36,545,641...36,654,213
Ensembl chr14:36,545,875...36,648,237 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr24:53,203,593...53,227,483
Ensembl chr24:53,203,301...53,227,325 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness 		ClinVar PMID:9536098 PMID:16134132 PMID:16287143 PMID:17576681 PMID:18616530 More... NCBI chr12:83,672,786...83,883,985
Ensembl chr12:83,735,988...83,877,251 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11907649 PMID:12920079 PMID:15447792 PMID:16021470 PMID:16283880 More... NCBI chr 2:86,248,792...86,273,715
Ensembl chr 2:86,245,507...86,272,196 		JBrowse link
G TNC tenascin C ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr12:24,457,616...24,556,194
Ensembl chr12:24,457,738...24,556,451 		JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:16385458 PMID:24033266 PMID:25741868 NCBI chr19:20,447,340...20,476,669 JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:2525289 PMID:10729113 PMID:10909849 PMID:12525556 PMID:15823922 More... NCBI chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:16648378 PMID:17492394 PMID:18544103 PMID:20301750 PMID:21917145 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		JBrowse link
Nonsyndromic Deafness, Modifier 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G METTL13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: DFNM1 OMIM
ClinVar		 PMID:29408807 NCBI chr25:57,323,818...57,344,501
Ensembl chr25:57,329,301...57,344,867 		JBrowse link
Perrault syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 NCBI chr 6:5,977,339...5,984,926
Ensembl chr 6:5,977,450...5,986,919 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr16:22,609,396...22,621,428
Ensembl chr16:22,609,413...22,621,676 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr23:43,323,847...43,333,620
Ensembl chr23:43,323,892...43,331,401 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr23:22,674,059...22,761,270
Ensembl chr23:22,674,072...22,762,056 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr22:6,861,105...7,021,325
Ensembl chr22:6,861,006...7,020,009 		JBrowse link
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164 		JBrowse link
Perrault Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:30311386 NCBI chr 6:5,977,339...5,984,926
Ensembl chr 6:5,977,450...5,986,919 		JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:39701103 NCBI chr20:8,122,440...8,174,665
Ensembl chr20:8,128,014...8,173,852 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr26:34,637,916...34,877,499
Ensembl chr26:34,638,838...34,879,217 		JBrowse link
G FSHR follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr14:58,013,405...58,211,528
Ensembl chr14:58,013,742...58,212,755 		JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr20:8,021,625...8,230,165
Ensembl chr20:8,025,074...8,127,097 		JBrowse link
G GPN2 GPN-loop GTPase 2 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr20:105,873,376...105,884,304
Ensembl chr20:105,873,666...105,884,572 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 OMIM
ClinVar		 PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr23:22,674,059...22,761,270
Ensembl chr23:22,674,072...22,762,056 		JBrowse link
G MRPL49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:40043708 NCBI chr 1:9,102,593...9,106,600 JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 PMID:37558808 NCBI chr24:11,936,410...12,081,721
Ensembl chr24:11,936,410...12,083,519 		JBrowse link
G YY1AP1 YY1 associated protein 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar
Perrault syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: HARS2-related condition | ClinVar Annotator: match by term: Perrault syndrome 2 OMIM
ClinVar		 PMID:517579 PMID:16199547 PMID:21464306 PMID:24033266 PMID:25741868 More... NCBI chr23:43,323,847...43,333,620
Ensembl chr23:43,323,892...43,331,401 		JBrowse link
Perrault Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: CLPP-related condition | ClinVar Annotator: match by term: Perrault syndrome 3 OMIM
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:23851121 More... NCBI chr 6:5,977,339...5,984,926
Ensembl chr 6:5,977,450...5,986,919 		JBrowse link
Perrault Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LARS2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome 4 OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr22:6,861,105...7,021,325
Ensembl chr22:6,861,006...7,020,009 		JBrowse link
Perrault Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TWNK twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome 5 OMIM
ClinVar		 PMID:18593709 PMID:21270786 PMID:25355836 PMID:25741868 PMID:26467025 More... NCBI chr 9:94,006,183...94,012,783
Ensembl chr 9:94,006,188...94,013,164 		JBrowse link
Perrault syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:28449065 NCBI chr16:22,609,396...22,621,428
Ensembl chr16:22,609,413...22,621,676 		JBrowse link
Perrault syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Perrault syndrome 7 OMIM
ClinVar		 PMID:39701103 NCBI chr20:8,122,440...8,174,665
Ensembl chr20:8,128,014...8,173,852 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9H10orf105 chromosome 9 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr25:31,710,712...32,143,121
Ensembl chr25:31,906,803...32,088,995 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr23:43,307,573...43,324,140
Ensembl chr23:43,307,415...43,323,767 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:59,440,327...59,474,773
Ensembl chr 9:59,440,311...59,474,986 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr 9:59,516,012...59,538,628
Ensembl chr 9:59,516,073...59,542,242 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:25,087,286...25,189,982
Ensembl chr12:25,087,295...25,189,985 		JBrowse link
Siddiqi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FITM2 fat storage inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: FITM2-related condition | ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr 2:19,509,761...19,513,718
Ensembl chr 2:19,509,809...19,517,238 		JBrowse link
Sinoatrial Node Dysfunction and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21131953 PMID:24033266 PMID:25741868 More... NCBI chr22:14,868,459...15,195,002
Ensembl chr22:15,027,565...15,197,101 		JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr16:10,947,254...11,316,414
Ensembl chr16:10,948,014...11,317,291 		JBrowse link
temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHSY1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome OMIM
ClinVar		 PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr29:19,633,335...19,707,547
Ensembl chr29:19,632,026...19,707,425 		JBrowse link
Tietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Tietz syndrome ClinVar
OMIM		 PMID:2440678 PMID:7874167 PMID:7874168 PMID:8589691 PMID:8659547 More... NCBI chr22:30,747,747...30,971,951
Ensembl chr22:30,748,440...30,972,168 		JBrowse link
Usher syndrome 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: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:3258136 PMID:9536098 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504 		JBrowse link
G ARSG arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr16:53,133,829...53,273,844
Ensembl chr16:53,134,634...53,272,434 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr14:36,149,074...36,179,145
Ensembl chr14:36,149,006...36,177,671 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr 1:7,737,887...7,765,022
Ensembl chr 1:7,737,578...7,764,732 		JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:9,489,479...9,518,936
Ensembl chr25:9,490,763...9,519,721 		JBrowse link
G C25H1orf115 chromosome 25 C1orf115 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:8,844,455...8,853,459 JBrowse link
G C9H10orf105 chromosome 9 C10orf105 homolog ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr16:72,004,087...72,061,889 JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G CEP250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 PMID:31456290 NCBI chr 2:56,361,451...56,422,146
Ensembl chr 2:56,361,483...56,421,798 		JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 More... NCBI chr26:5,222,657...5,248,133
Ensembl chr26:5,222,902...5,248,191 		JBrowse link
G CLRN1 clarin 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 More... NCBI chr15:39,713,439...39,761,647
Ensembl chr15:39,717,716...39,761,306 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 Ensembl chr24:7,734,850...7,750,814 JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr10:113,028,552...113,183,240
Ensembl chr10:113,028,552...113,165,958 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr25:31,710,712...32,143,121
Ensembl chr25:31,906,803...32,088,995 		JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 6:41,125,912...41,133,478
Ensembl chr 6:41,126,125...41,132,951 		JBrowse link
G DGKQ diacylglycerol kinase theta ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr27:47,804,904...47,819,291
Ensembl chr27:47,805,017...47,817,583 		JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:7,790,969...7,833,485
Ensembl chr25:7,792,913...7,834,346 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:9,534,747...9,618,119
Ensembl chr25:9,534,114...9,618,141 		JBrowse link
G ESRRG estrogen related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:12,495,234...13,090,739
Ensembl chr25:12,866,321...13,090,733 		JBrowse link
G FMC1 formation of mitochondrial complex V assembly factor 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr21:108,087,824...108,092,337
Ensembl chr21:108,087,781...108,092,384 		JBrowse link
G GPATCH2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:11,956,218...12,154,532 JBrowse link
G GUCA1A guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:25741868 PMID:28492532 PMID:30718709 NCBI chr17:29,972,216...29,984,653
Ensembl chr17:29,972,862...29,977,487 		JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr  X:45,927,625...45,951,636
Ensembl chr  X:45,928,092...45,952,929 		JBrowse link
G HHIPL2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:7,024,388...7,051,587 JBrowse link
G HLX H2.0 like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:8,641,386...8,647,485
Ensembl chr25:8,641,752...8,646,563 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:9,414,316...9,485,542
Ensembl chr25:9,414,711...9,485,429 		JBrowse link
G KIF11 kinesin family member 11 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 9:85,858,364...85,923,211
Ensembl chr 9:85,858,381...85,923,819 		JBrowse link
G LOC103217640 calcium-binding protein 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:6,804,761...6,810,277
Ensembl chr 1:6,805,193...6,808,456 		JBrowse link
G LUC7L2 LUC7 like 2, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr21:108,105,469...108,172,026
Ensembl chr21:108,105,885...108,173,735 		JBrowse link
G LYPLAL1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:10,370,715...10,408,807
Ensembl chr25:10,370,814...10,408,767 		JBrowse link
G MARK1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:8,876,945...9,019,780
Ensembl chr25:8,879,201...9,019,598 		JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:8,654,316...8,744,579
Ensembl chr25:8,717,436...8,743,652 		JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:8,745,754...8,782,967
Ensembl chr25:8,748,605...8,782,379 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome 		ClinVar PMID:2696932 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 More... NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:20,184,525...20,278,438
Ensembl chr 5:20,198,412...20,278,433 		JBrowse link
G PAX3 paired box 3 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:108,125,198...108,225,217
Ensembl chr10:108,125,747...108,224,478 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G PDE6A phosphodiesterase 6A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chr23:52,465,497...52,550,671
Ensembl chr23:52,468,022...52,549,599 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 9:94,026,036...94,049,043 JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr27:34,093,699...34,243,630
Ensembl chr27:34,129,532...34,243,778 		JBrowse link
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr17:29,429,876...29,456,013
Ensembl chr17:29,430,545...29,453,636 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 9:59,440,327...59,474,773
Ensembl chr 9:59,440,311...59,474,986 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:9,293,791...9,411,950
Ensembl chr25:9,293,838...9,415,319 		JBrowse link
G RRP15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:11,273,756...11,318,280
Ensembl chr25:11,274,241...11,318,290 		JBrowse link
G SERPINB6 serpin family B member 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr17:69,204,019...69,219,020
Ensembl chr17:69,207,684...69,219,016 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:9,654,846...9,671,247
Ensembl chr25:9,655,129...9,668,280 		JBrowse link
G SPATA17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:11,729,382...11,956,102
Ensembl chr25:11,728,433...11,955,926 		JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:6,982,714...7,014,699
Ensembl chr25:6,982,784...7,014,877 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr25:11,163,651...11,259,868
Ensembl chr25:11,163,100...11,258,470 		JBrowse link
G USH1C USH1 protein network component harmonin treatment ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695937 NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12588794 PMID:22219650 PMID:24033266 PMID:25741868 PMID:27460420 More... NCBI chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682 		JBrowse link
G USH2A usherin susceptibility ISO DNA:snps, insertion:exon, intron:multiple (human)
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		RGD
ClinVar		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:3258136 PMID:3526624 More... RGD:8547956 NCBI chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11973626 PMID:12833159 PMID:15841483 PMID:21569298 PMID:22147658 More... NCBI chr12:25,087,286...25,189,982
Ensembl chr12:25,087,295...25,189,985 		JBrowse link
G ZDHHC24 zDHHC palmitoyltransferase 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr 1:7,725,246...7,732,848 JBrowse link
Usher syndrome type 1 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: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504 		JBrowse link
G C9H10orf105 chromosome 9 C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr26:5,222,657...5,248,133
Ensembl chr26:5,222,902...5,248,191 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr20:125,282,283...125,320,436
Ensembl chr20:125,278,313...125,320,365 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 9:59,440,327...59,474,773
Ensembl chr 9:59,440,311...59,474,986 		JBrowse link
G USH1C USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1 		RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9H10orf105 chromosome 9 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G MYO7A myosin VIIA treatment ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety 		OMIM
ClinVar
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694151 NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety 		ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 9:59,440,327...59,474,773
Ensembl chr 9:59,440,311...59,474,986 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B 		ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
Usher syndrome type 1C 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: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9H10orf105 chromosome 9 C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D 		ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr 9:59,440,327...59,474,773
Ensembl chr 9:59,440,311...59,474,986 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr 9:59,516,012...59,538,628
Ensembl chr 9:59,516,073...59,542,242 		JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682 		JBrowse link
Usher syndrome type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chr26:5,222,657...5,248,133
Ensembl chr26:5,222,902...5,248,191 		JBrowse link
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESPN espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr20:125,282,283...125,320,436
Ensembl chr20:125,278,313...125,320,365 		JBrowse link
Usher syndrome type 2 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: Usher syndrome type 2 ClinVar PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 More... NCBI chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 PMID:32531858 NCBI chr 9:59,475,126...59,893,824 JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
G USH2A usherin susceptibility ISO DNA:insertion, deletions, snps:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
DNA:mutations:multiple (human)
DNA:snp:intron:c.7595-2144A>G (human) 		RGD
ClinVar		 PMID:2564938 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 More... RGD:8547952 RGD:8547962 RGD:8547965 RGD:8547985 NCBI chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		JBrowse link
Usher syndrome type 2A 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: Usher syndrome type 2A ClinVar NCBI chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr25:13,951,569...14,008,370
Ensembl chr25:13,950,775...14,008,338 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr 9:94,026,036...94,049,043 JBrowse link
G USH2A usherin susceptibility ISO ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:mutations:multiple (human)
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human) 		OMIM
ClinVar
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547961 RGD:8547987 NCBI chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		JBrowse link
Usher Syndrome Type 2B 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: Usher syndrome, type 2B ClinVar PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More... NCBI chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26849169 More... NCBI chr 9:94,026,036...94,049,043 JBrowse link
G WDR36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr23:14,427,459...14,464,125
Ensembl chr23:14,427,487...14,466,704 		JBrowse link
Usher syndrome type 2C 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: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic OMIM
ClinVar		 PMID:3258136 PMID:3442652 PMID:9536098 PMID:10234513 PMID:14740321 More... NCBI chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504 		JBrowse link
G CNKSR1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:25741868 NCBI chr20:106,577,470...106,596,544
Ensembl chr20:106,577,809...106,589,788 		JBrowse link
G CRYGC crystallin gamma C ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:93,925,842...93,928,514
Ensembl chr10:93,925,908...93,927,583 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:21900877 PMID:25741868 PMID:28492532 NCBI chr 7:26,545,048...26,992,346
Ensembl chr 7:26,700,869...26,954,352 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:24498627 PMID:25741868 PMID:26416264 More... NCBI chr 9:94,026,036...94,049,043 JBrowse link
G SLC4A7 solute carrier family 4 member 7 ISO OMIM:605472 MouseDO NCBI chr15:71,942,498...72,047,781
Ensembl chr15:71,961,350...72,047,617 		JBrowse link
G WDR36 WD repeat domain 36 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIC ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr23:14,427,459...14,464,125
Ensembl chr23:14,427,487...14,466,704 		JBrowse link
Usher syndrome type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WHRN whirlin ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D OMIM
ClinVar		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:16199547 More... NCBI chr12:25,087,286...25,189,982
Ensembl chr12:25,087,295...25,189,985 		JBrowse link
Usher syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr15:39,713,439...39,761,647
Ensembl chr15:39,717,716...39,761,306 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr23:43,307,573...43,324,140
Ensembl chr23:43,307,415...43,323,767 		JBrowse link
Usher syndrome type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN1 clarin 1 ISO ClinVar Annotator: match by term: CLRN1-related condition | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A OMIM
ClinVar		 PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... NCBI chr15:39,713,439...39,761,647
Ensembl chr15:39,717,716...39,761,306 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Usher syndrome type 3A ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DND1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr23:43,304,482...43,307,479
Ensembl chr23:43,304,976...43,307,209 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 More... NCBI chr23:43,307,573...43,324,140
Ensembl chr23:43,307,415...43,323,767 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr23:43,323,847...43,333,620
Ensembl chr23:43,323,892...43,331,401 		JBrowse link
Usher Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSG arylsulfatase G ISO ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 More... NCBI chr16:53,133,829...53,273,844
Ensembl chr16:53,134,634...53,272,434 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 ClinVar PMID:25741868 PMID:28492532 PMID:33300174 PMID:35226187 PMID:36317447 NCBI chr16:53,021,666...53,042,594
Ensembl chr16:53,023,963...53,042,493 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CPLX1 complexin 1 ISO ClinVar Annotator: match by term: WITTWER SYNDROME ClinVar PMID:25741868 PMID:28422131 PMID:28492532 NCBI chr27:47,959,109...48,002,338
Ensembl chr27:47,959,091...48,002,527 		JBrowse link
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr27:47,533,490...47,570,505
Ensembl chr27:47,544,682...47,570,636 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr27:47,752,316...47,766,771
Ensembl chr27:47,750,626...47,755,929 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr27:46,912,882...46,954,295
Ensembl chr27:46,912,819...46,956,164 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: WITTWER SYNDROME | ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr27:46,787,325...46,896,898
Ensembl chr27:46,787,154...46,867,792 		JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr25:65,462,608...65,493,242
Ensembl chr25:65,462,603...65,493,246 		JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome ClinVar PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		JBrowse link
Wolfram syndrome 1 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: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1 OMIM
ClinVar		 PMID:1161832 PMID:1615141 PMID:3095763 PMID:3126496 PMID:3387915 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CISD2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More... NCBI chr 7:50,968,061...50,988,725
Ensembl chr 7:50,968,111...50,988,714 		JBrowse link
G CISD3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr16:67,462,038...67,465,843
Ensembl chr16:67,458,472...67,465,572 		JBrowse link
G PCGF2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr16:67,447,181...67,461,829
Ensembl chr16:67,455,292...67,460,509 		JBrowse link
G SLC9B1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 7:51,011,569...51,125,675 JBrowse link
X-linked Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATG4A autophagy related 4A cysteine peptidase ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:95,936,385...96,011,541
Ensembl chr  X:95,983,662...96,010,578 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17216251 PMID:17396119 PMID:19129241 PMID:19675380 More... NCBI chr10:113,028,552...113,183,240
Ensembl chr10:113,028,552...113,165,958 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome OMIM
ClinVar		 PMID:94548 PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 More... NCBI chr  X:96,307,927...96,570,592 JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:96,012,442...96,307,911 JBrowse link
G FN1 fibronectin 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,177,867...101,254,613
Ensembl chr10:101,176,789...101,254,633 		JBrowse link
G MSR1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr 8:14,221,389...14,305,059
Ensembl chr 8:14,220,529...14,304,946 		JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 NCBI chr 1:101,452,994...101,531,680
Ensembl chr 1:101,453,473...101,525,596 		JBrowse link
X-linked deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1 OMIM
ClinVar		 PMID:8968763 PMID:10503584 PMID:15240907 PMID:17701900 PMID:20021999 More... NCBI chr  X:95,452,481...95,475,933 JBrowse link
X-linked deafness 2 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: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear
ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear 		ClinVar PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear ClinVar PMID:10730756 PMID:11017065 PMID:12419304 PMID:14708603 PMID:15213106 More... NCBI chr 3:775,410...783,770
Ensembl chr 3:782,251...783,036 		JBrowse link
G POU3F4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: POU3F4-related condition | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear OMIM
ClinVar		 PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 More... NCBI chr  X:72,379,656...72,381,186
Ensembl chr  X:72,379,979...72,381,064 		JBrowse link
X-linked deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMPX small muscle protein X-linked ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE OMIM
ClinVar		 PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More... NCBI chr  X:20,170,996...20,234,693
Ensembl chr  X:20,172,347...20,227,028 		JBrowse link
X-linked deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 OMIM
ClinVar		 PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:29625556 More... NCBI chr  X:105,383,408...105,419,146
Ensembl chr  X:105,382,693...105,419,095 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:29625556 More... NCBI chr  X:105,421,709...105,437,206
Ensembl chr  X:105,424,290...105,437,169 		JBrowse link
X-linked deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL4A6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: COL4A6-related condition | ClinVar Annotator: match by term: Deafness, X-linked 6 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23714752 PMID:25741868 PMID:26467025 More... NCBI chr  X:96,012,442...96,307,911 JBrowse link
X-linked deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPRASP2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: GPRASP2-related condition | ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr  X:90,692,724...90,698,316 JBrowse link
X-linked mental retardation Gustavson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBMX RNA binding motif protein X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES OMIM
ClinVar		 PMID:25741868 NCBI chr  X:111,880,859...111,892,660 JBrowse link
X-linked mental retardation-hypotonic facies syndrome-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATRX ATRX chromatin remodeler ISO ClinVar Annotator: match by term: CHUDLEY-LOWRY SYNDROME | ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: XLMR-HYPOTONIC FACIES SYNDROME OMIM
ClinVar		 PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 More... NCBI chr  X:66,449,830...66,737,220
Ensembl chr  X:66,448,449...66,737,164 		JBrowse link
G EPOR erythropoietin receptor ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 NCBI chr 6:10,313,382...10,320,196
Ensembl chr 6:10,313,775...10,320,066 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: HOLMES-GANG SYNDROME ClinVar PMID:25741868 NCBI chr  X:49,661,506...49,814,551
Ensembl chr  X:49,660,790...49,808,572 		JBrowse link
X-linked nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMPX small muscle protein X-linked ISO ClinVar Annotator: match by term: X-linked deafness ClinVar NCBI chr  X:20,170,996...20,234,693
Ensembl chr  X:20,172,347...20,227,028 		JBrowse link
X-linked retinitis pigmentosa and sinorespiratory infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness OMIM
ClinVar		 PMID:1733835 PMID:8673101 PMID:10094550 PMID:14627685 PMID:16055928 More... NCBI chr 9:30,008,681...30,033,475 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15618
    sensory system disease 6970
      Hearing Disorders 805
        Hearing Loss 799
          Deafness 387
            3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 27
            Absence of Tibia with Congenital Deafness 0
            Albinism Deafness Syndrome 0
            Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 0
            Ayazi Syndrome 0
            Branchiogenic-Deafness Syndrome 0
            Burn-McKeown syndrome 17
            COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
            Cardioauditory Syndrome of Sanchez Cascos 0
            Congenital Deafness and Familial Myoclonic Epilepsy 0
            Congenital Deafness, with Vitiligo and Achalasia 0
            Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 0
            Congenital Myopathy with Neuropathy and Deafness 2
            Coxoauricular Syndrome 0
            DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 1
            DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY 1
            Davenport Donlan Syndrome 0
            Deaf-Blind Disorders + 83
            Deafness Hyperuricemia Neurologic Ataxia 0
            Deafness with Anhidrotic Ectodermal Dysplasia 0
            Deafness, Autosomal Dominant, due to Mutation In Myo1a 0
            Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
            Deafness, Congenital Onychodystrophy, Recessive Form 0
            Deafness, with Smith-Magenis Syndrome 1
            Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
            Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 0
            Fine-Lubinsky Syndrome 3
            Fountain Syndrome 0
            HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
            Herrmann Syndrome 0
            Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
            Hyperlipoproteinemia Type II, and Deafness 0
            Hypokalemic Tubulopathy and Deafness 1
            ITM2B-related cerebral amyloid angiopathy 2 1
            Johnson Neuroectodermal Syndrome 0
            Jones Syndrome 0
            Keipert syndrome 1
            Keratitis-Ichthyosis-Deafness Syndrome + 2
            Konigsmark Knox Hussels Syndrome 0
            LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS 1
            Lynch Lee Murday syndrome 0
            Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 0
            Meyenburg-Altherr-Uehlinger Syndrome 0
            Microcephaly Deafness Syndrome 0
            Muckle-Wells syndrome 2
            Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
            Myoclonus, Cerebellar Ataxia, and Deafness 0
            Nathalie Syndrome 0
            Nephrosis with Deafness and Urinary Tract and Digital Malformations 0
            Noninsulin-Dependent Diabetes Mellitus with Deafness 0
            Opticocochleodentate Degeneration 0
            Perrault syndrome + 14
            Ramos Arroyo Clark Syndrome 0
            Ribbonlike Corneal Degeneration with Deafness 0
            Richards-Rundle Syndrome 0
            Schimke X-Linked Mental Retardation Syndrome 0
            Schlegelberger Grote Syndrome 0
            Secretory Diarrhea, Myopathy, and Deafness 0
            Siddiqi syndrome 1
            Sinoatrial Node Dysfunction and Deafness 2
            Tietz syndrome 1
            Wright Dyck Syndrome 0
            X-linked Alport syndrome 7
            X-linked mental retardation Gustavson type 1
            X-linked mental retardation-hypotonic facies syndrome-1 3
            X-linked retinitis pigmentosa and sinorespiratory infections 1
            Yemenite Deaf-Blind Hypopigmentation Syndrome 0
            autosomal dominant congenital deafness with onychodystrophy 1
            autosomal dominant nonsyndromic deafness 65 2
            hereditary spastic paraplegia 24 0
            high myopia-sensorineural deafness syndrome 1
            multiple synostoses syndrome 1 3
            nonsyndromic deafness + 222
            spastic paraplegia with deafness 0
            temtamy preaxial brachydactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 15618
    Pathological Conditions, Signs and Symptoms 12217
      Signs and Symptoms 10230
        Neurologic Manifestations 9913
          sensory system disease 6970
            Otorhinolaryngologic Diseases 1734
              auditory system disease 1023
                Hearing Disorders 805
                  Hearing Loss 799
                    Deafness 387
                      3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 27
                      Absence of Tibia with Congenital Deafness 0
                      Albinism Deafness Syndrome 0
                      Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death 0
                      Ayazi Syndrome 0
                      Branchiogenic-Deafness Syndrome 0
                      Burn-McKeown syndrome 17
                      COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                      Cardioauditory Syndrome of Sanchez Cascos 0
                      Congenital Deafness and Familial Myoclonic Epilepsy 0
                      Congenital Deafness, with Vitiligo and Achalasia 0
                      Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 0
                      Congenital Myopathy with Neuropathy and Deafness 2
                      Coxoauricular Syndrome 0
                      DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 1
                      DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY 1
                      Davenport Donlan Syndrome 0
                      Deaf-Blind Disorders + 83
                      Deafness Hyperuricemia Neurologic Ataxia 0
                      Deafness with Anhidrotic Ectodermal Dysplasia 0
                      Deafness, Autosomal Dominant, due to Mutation In Myo1a 0
                      Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities 0
                      Deafness, Congenital Onychodystrophy, Recessive Form 0
                      Deafness, with Smith-Magenis Syndrome 1
                      Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation 0
                      Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness 0
                      Fine-Lubinsky Syndrome 3
                      Fountain Syndrome 0
                      HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
                      Herrmann Syndrome 0
                      Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
                      Hyperlipoproteinemia Type II, and Deafness 0
                      Hypokalemic Tubulopathy and Deafness 1
                      ITM2B-related cerebral amyloid angiopathy 2 1
                      Johnson Neuroectodermal Syndrome 0
                      Jones Syndrome 0
                      Keipert syndrome 1
                      Keratitis-Ichthyosis-Deafness Syndrome + 2
                      Konigsmark Knox Hussels Syndrome 0
                      LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS 1
                      Lynch Lee Murday syndrome 0
                      Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 0
                      Meyenburg-Altherr-Uehlinger Syndrome 0
                      Microcephaly Deafness Syndrome 0
                      Muckle-Wells syndrome 2
                      Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders 0
                      Myoclonus, Cerebellar Ataxia, and Deafness 0
                      Nathalie Syndrome 0
                      Nephrosis with Deafness and Urinary Tract and Digital Malformations 0
                      Noninsulin-Dependent Diabetes Mellitus with Deafness 0
                      Opticocochleodentate Degeneration 0
                      Perrault syndrome + 14
                      Ramos Arroyo Clark Syndrome 0
                      Ribbonlike Corneal Degeneration with Deafness 0
                      Richards-Rundle Syndrome 0
                      Schimke X-Linked Mental Retardation Syndrome 0
                      Schlegelberger Grote Syndrome 0
                      Secretory Diarrhea, Myopathy, and Deafness 0
                      Siddiqi syndrome 1
                      Sinoatrial Node Dysfunction and Deafness 2
                      Tietz syndrome 1
                      Wright Dyck Syndrome 0
                      X-linked Alport syndrome 7
                      X-linked mental retardation Gustavson type 1
                      X-linked mental retardation-hypotonic facies syndrome-1 3
                      X-linked retinitis pigmentosa and sinorespiratory infections 1
                      Yemenite Deaf-Blind Hypopigmentation Syndrome 0
                      autosomal dominant congenital deafness with onychodystrophy 1
                      autosomal dominant nonsyndromic deafness 65 2
                      hereditary spastic paraplegia 24 0
                      high myopia-sensorineural deafness syndrome 1
                      multiple synostoses syndrome 1 3
                      nonsyndromic deafness + 222
                      spastic paraplegia with deafness 0
                      temtamy preaxial brachydactyly syndrome 1
paths to the root