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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
 primary_id: MESH:D003638;   RDO:0000298
 xref: EFO:0001063;   NCI:C27644


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 chr 6:89,295,164...89,318,169 JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:11406631 RGD:734598 NCBI chr 6:111,407,632...111,422,169
Ensembl chr 6:111,407,639...111,422,109 		JBrowse link
G BDNF brain derived neurotrophic factor treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:18607918 PMID:19365690 PMID:21452221 PMID:23150788 RGD:8639313 RGD:8655576 NCBI chr 2:32,623,668...32,679,293
Ensembl chr 2:32,624,048...32,679,765 		JBrowse link
G BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr16:47,801,273...47,909,513
Ensembl chr16:47,801,315...47,908,851 		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 chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662 		JBrowse link
G CDC14A cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 4:117,635,849...117,804,568
Ensembl chr 4:117,635,861...117,805,254 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 6:75,178,914...75,192,670 JBrowse link
G CLDN14 claudin 14 susceptibility ISO DNA:deletion, missense mutation: :398delT, p.V85D
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:11163249 RGD:1600866 NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525 		JBrowse link
G COCH cochlin susceptibility ISO deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations RGD PMID:9806553 RGD:1600878 NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077 		JBrowse link
G CRYM crystallin mu ISO DNA:missense mutation:cds:p.K314T (human) RGD PMID:12471561 RGD:734836 NCBI chr 3:24,815,010...24,835,837
Ensembl chr 3:24,815,010...24,835,836 		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 chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113 		JBrowse link
G ESPN espin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10975527 PMID:15286153 PMID:15930085 RGD:734943 NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:19293293 RGD:8553051 NCBI chr 1:193,823,666...193,907,330
Ensembl chr 1:193,829,560...193,906,565 		JBrowse link
G GJB1 gap junction protein beta 1 treatment ISO RGD PMID:21813206 RGD:7364894 NCBI chr  X:57,241,990...57,249,496
Ensembl chr  X:57,242,045...57,249,885 		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 chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G GJB3 gap junction protein beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843210 NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542 		JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886 		JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:20661454 RGD:8549497 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr17:19,591,248...19,629,659
Ensembl chr17:19,591,259...19,629,641 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:12618319 RGD:8662867 NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406 		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 chr14:57,268,064...57,319,338
Ensembl chr14:57,265,780...57,318,989 		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 chr 7:110,117,087...110,271,877
Ensembl chr 7:110,121,263...110,271,481 		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 chr 3:112,322,446...112,359,212
Ensembl chr 3:112,322,446...112,359,212 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr 2:1,675,323...1,989,110
Ensembl chr 2:1,675,360...1,989,111 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992 		JBrowse link
G LRRC51 leucine-rich repeat-containing protein 51 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953341 NCBI chr 9:6,663,122...6,673,272
Ensembl chr 9:6,663,134...6,673,271 		JBrowse link
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr16:47,529,857...47,563,485
Ensembl chr16:47,530,068...47,563,482 		JBrowse link
G MITF melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093 		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 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104 		JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948 		JBrowse link
G PAX3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,094,295...124,193,011 		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 chr14:95,530,168...96,388,032 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 chr15:84,157,864...84,165,763
Ensembl chr15:84,158,639...84,165,906 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,880...55,272,085 		JBrowse link
G POLR2C RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 6:19,393,569...19,401,119
Ensembl chr 6:19,393,597...19,401,116 		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 chr 5:9,905,359...9,917,721
Ensembl chr 5:9,855,983...9,917,726 		JBrowse link
G POU3F4 POU class 3 homeobox 4 ISO RGD PMID:7839145 PMID:9298820 RGD:1599155 RGD:1599156 NCBI chr  X:66,765,044...66,766,642
Ensembl chr  X:66,765,105...66,766,190 		JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO RGD PMID:9506947 RGD:1599168 NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334 		JBrowse link
G RET ret proto-oncogene ISO mRNA:increased expression:vestibulocochlear VIII nerve cochlear component RGD PMID:16738479 RGD:2324943 NCBI chr14:61,305,818...61,361,416
Ensembl chr14:61,305,841...61,361,412 		JBrowse link
G SERAC1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 1:8,935,081...9,002,774
Ensembl chr 1:8,935,091...9,002,770 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 ISO RGD PMID:10391221 RGD:1599325 NCBI chr 4:81,510,221...81,535,099
Ensembl chr 4:81,510,098...81,536,464 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:11317356 PMID:28492532 PMID:29372807 PMID:30303587 PMID:34170635 NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12719379 NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730 		JBrowse link
G SMAD4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr 1:100,521,843...100,633,501
Ensembl chr 1:100,589,850...100,628,029 		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 chr 5:9,890,439...9,901,746
Ensembl chr 5:9,891,525...9,901,743 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:11850618 PMID:16199547 PMID:22105175 PMID:28492532 PMID:30303587 More... NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469 		JBrowse link
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27311106 NCBI chr 5:98,695,404...99,085,243
Ensembl chr 5:98,697,035...99,229,550 		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 chr 5:10,066,080...10,132,668
Ensembl chr 5:10,066,086...10,126,491 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:30303587 NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361 		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 chr10:5,825,591...6,662,733 JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222 		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 chr 1:7,600,616...7,612,861
Ensembl chr 1:7,598,735...7,612,866 		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 chr 1:6,761,734...6,883,555
Ensembl chr 1:6,772,417...6,883,551 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128 		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 chr 1:8,556,083...8,562,865
Ensembl chr 1:8,556,059...8,563,676 		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 chr 1:8,403,362...8,452,750
Ensembl chr 1:8,403,453...8,452,742 		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 chr 1:8,007,320...8,106,875
Ensembl chr 1:8,007,321...8,081,817 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr 1:8,928,280...8,935,030
Ensembl chr 1:8,917,240...8,934,983 		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 chr 1:7,369,485...7,472,480
Ensembl chr 1:7,368,103...7,472,548 		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 chr 1:6,891,255...7,049,784
Ensembl chr 1:6,891,265...7,049,775 		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 chr 1:7,527,566...7,542,110
Ensembl chr 1:7,527,861...7,528,838 		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 chr 1:7,581,763...7,590,037
Ensembl chr 1:7,581,764...7,590,031 		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 chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,192...7,110,555 		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 chr 1:7,560,084...7,580,062
Ensembl chr 1:7,559,745...7,579,197 		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 chr 1:5,698,508...6,731,132
Ensembl chr 1:5,465,312...6,730,872 		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 chr 1:8,243,177...8,265,816
Ensembl chr 1:8,244,040...8,265,659 		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 OMIM
ClinVar		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr 1:8,935,081...9,002,774
Ensembl chr 1:8,935,091...9,002,770 		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 chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520 		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 chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146 		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 chr 1:7,105,486...7,207,395
Ensembl chr 1:7,110,074...7,207,401 		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 chr 1:7,679,352...7,689,564
Ensembl chr 1:7,679,352...7,689,560 		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 chr 1:8,452,822...8,546,637
Ensembl chr 1:8,453,283...8,546,530 		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 chr 1:8,209,298...8,217,993
Ensembl chr 1:8,209,314...8,219,630 		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 chr 1:7,590,140...7,600,709
Ensembl chr 1:7,590,140...7,601,795 		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 chr 1:8,564,752...8,642,358
Ensembl chr 1:8,562,844...8,635,462 		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 chr 1:8,650,811...8,891,596 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 chr 1:7,622,544...7,651,732
Ensembl chr 1:7,622,547...7,651,961 		JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-CO1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:6,511...8,055
Ensembl chr MT:6,511...8,055 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of OMIM
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr 5:3,208,122...3,224,382
Ensembl chr 5:3,208,118...3,224,366 		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 8:111,697,364...111,723,295
Ensembl chr 8:111,698,757...111,723,298 		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 | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision OMIM
ClinVar		 PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:88,074,861...88,101,925
Ensembl chr  X:88,074,965...88,101,910 		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:17576681 PMID:20624953 PMID:21220648 PMID:25741868 More... NCBI chr11:32,492,735...32,994,854
Ensembl chr11:32,492,740...32,994,844 		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 chr11:78,292,734...78,402,108
Ensembl chr11:78,293,469...78,402,083 		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:21391237 PMID:21636032 PMID:23161701 More... NCBI chr13:70,397,069...70,417,213
Ensembl chr13:70,393,227...70,417,168 		JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant OMIM
ClinVar		 PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 NCBI chr14:4,289,257...4,318,587
Ensembl chr14:4,289,339...4,318,584 		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 8:131,318,187...131,444,274
Ensembl chr 8:131,319,983...131,472,761 		JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750 		JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss ClinVar PMID:25741868 PMID:33111345 NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,768,286...125,770,545 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr14:30,498,885...30,519,846
Ensembl chr14:30,498,900...30,520,070 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625 		JBrowse link
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734 		JBrowse link
G PDE1C phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chr18:40,818,316...41,410,555
Ensembl chr18:40,820,644...41,409,087 		JBrowse link
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment ClinVar PMID:30872814 PMID:31397523 NCBI chr13:83,307,692...83,434,133
Ensembl chr13:83,308,007...83,434,128 		JBrowse link
G SIX1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651 		JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 2:143,158,691...143,271,110
Ensembl chr 2:143,158,585...143,271,147 		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 chr 2:141,343,818...141,352,618
Ensembl chr 2:141,343,803...141,352,603 		JBrowse link
G EIF4EBP3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar PMID:28492532 NCBI chr 2:142,303,881...142,305,719
Ensembl chr 2:142,303,859...142,305,716 		JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EYA4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders OMIM
ClinVar		 PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 More... NCBI chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604 		JBrowse link
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 11 OMIM
ClinVar		 PMID:3130723 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 More... NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 OMIM
ClinVar		 PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 More... NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274 		JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13 OMIM
ClinVar		 PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:21204229 More... NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888 		JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition OMIM
ClinVar		 PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More... NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346 		JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STRC stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339 		JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration | ClinVar Annotator: match by term: MYH9-related condition OMIM
ClinVar		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472 		JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 20 OMIM
ClinVar		 PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217 		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 chr 7:19,609,358...19,842,345
Ensembl chr 7:19,609,358...19,838,093 		JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 OMIM
ClinVar		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734 		JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SIX1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 23 OMIM
ClinVar		 PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chr 1:189,620,430...189,624,652
Ensembl chr 1:189,619,855...189,624,651 		JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC17A8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 25 OMIM
ClinVar		 PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr 5:83,741,641...83,809,472
Ensembl chr 5:83,741,715...83,800,808 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO OMIM:605583 MouseDO NCBI chr14:41,125,819...41,169,582
Ensembl chr14:41,125,869...41,169,578 		JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100621006 RE1-silencing transcription factor-like ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 27 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 NCBI chr 8:56,048,280...56,215,011
Ensembl chr 8:56,035,150...56,215,013 		JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRHL2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 28 OMIM
ClinVar		 PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:35,368,788...35,565,394
Ensembl chr 4:35,371,136...35,564,919 		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 chr 6:170,346,135...170,401,534
Ensembl chr 6:170,346,141...170,401,718 		JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 2b ClinVar PMID:9843210 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 More... NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542 		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 chr11:78,292,734...78,402,108
Ensembl chr11:78,293,469...78,402,083 		JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NLRP3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation OMIM
ClinVar		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition OMIM
ClinVar		 PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 More... NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar NCBI chr10:5,825,591...6,662,733 JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 37 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 More... NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,634,172...115,840,708 		JBrowse link
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000 		JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYL1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:27480936 PMID:28492532 NCBI chr11:845,471...925,849
Ensembl chr11:845,475...931,648 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr11:750,658...751,889
Ensembl chr11:750,658...751,800 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b OMIM
ClinVar		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085 		JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr11:1,104,270...1,208,144
Ensembl chr11:1,105,014...1,208,116 		JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr11:1,054,816...1,095,118
Ensembl chr11:1,067,061...1,082,591 		JBrowse link
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYM crystallin mu ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 40 OMIM
ClinVar		 PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:24,815,010...24,835,837
Ensembl chr 3:24,815,010...24,835,836 		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 chr14:22,854,828...22,858,574
Ensembl chr14:22,854,828...22,858,386 		JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC50 coiled-coil domain containing 50 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 44 OMIM
ClinVar		 PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 More... NCBI chr13:128,619,223...128,690,964
Ensembl chr13:128,619,230...128,690,649 		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 chr 5:22,338,024...22,363,528
Ensembl chr 5:22,338,029...22,363,568 		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 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761 		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 6:55,097,851...55,200,754
Ensembl chr 6:55,113,521...55,200,750 		JBrowse link
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4b OMIM
ClinVar		 PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761 		JBrowse link
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GSDME gasdermin E ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 5 OMIM
ClinVar		 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 More... NCBI chr18:47,524,637...47,583,748
Ensembl chr18:47,526,797...47,583,731 		JBrowse link
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR96 microRNA mir-96 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 50 OMIM
ClinVar		 PMID:14757864 PMID:19363479 NCBI chr18:18,982,506...18,982,590
Ensembl chr18:18,982,506...18,982,590 		JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TJP2 tight junction protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar PMID:20602916 NCBI chr 1:222,474,518...222,612,989
Ensembl chr 1:222,474,639...222,612,983 		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 chr 1:256,544,496...256,784,813
Ensembl chr 1:256,544,928...256,780,760 		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 chr 1:255,533,235...255,630,381
Ensembl chr 1:255,533,238...255,630,376 		JBrowse link
G TNFSF8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 1:255,436,206...255,459,020
Ensembl chr 1:255,432,969...255,459,073 		JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 OMIM
ClinVar		 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More... NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273 		JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GNT4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 64 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:30,520,075...30,524,275
Ensembl chr14:30,520,077...30,523,060 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 64 OMIM
ClinVar		 PMID:21722859 PMID:25741868 PMID:28492532 NCBI chr14:30,498,885...30,519,846
Ensembl chr14:30,498,900...30,520,070 		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 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079 		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 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277 		JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CD164 CD164 molecule ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 OMIM
ClinVar		 PMID:25741868 PMID:26197441 NCBI chr 1:75,441,568...75,458,140
Ensembl chr 1:75,441,575...75,458,145 		JBrowse link
autosomal dominant nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OSBPL2 oxysterol binding protein like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 67 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25759012 PMID:28492532 NCBI chr17:61,643,263...61,683,178
Ensembl chr17:61,643,377...61,685,819 		JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOMER2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 68 OMIM
ClinVar		 PMID:25741868 PMID:25816005 PMID:30047143 NCBI chr 7:52,001,253...52,104,426
Ensembl chr 7:52,001,579...52,096,828 		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 chr 5:94,016,992...94,110,219
Ensembl chr 5:94,017,387...94,110,214 		JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMX1A LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 7 OMIM
ClinVar		 PMID:25741868 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227 NCBI chr 4:85,403,287...85,570,738
Ensembl chr 4:85,406,223...85,571,443 		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 OMIM
ClinVar		 PMID:25741868 PMID:26196677 PMID:28492532 NCBI chr13:72,630,378...72,651,270
Ensembl chr13:72,630,380...72,657,786 		JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DMXL2 Dmx like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 71 OMIM
ClinVar		 PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 More... NCBI chr 1:120,138,249...120,298,603
Ensembl chr 1:120,138,336...120,298,586 		JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC44A4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 72 OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr 7:23,958,935...23,977,466
Ensembl chr 7:23,958,942...23,977,482 		JBrowse link
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334 		JBrowse link
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE1C phosphodiesterase 1C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 74 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29860631 NCBI chr18:40,818,316...41,410,555
Ensembl chr18:40,820,644...41,409,087 		JBrowse link
autosomal dominant nonsyndromic deafness 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRRAP transformation/transcription domain associated protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 75 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31231791 NCBI chr 3:5,903,205...6,029,343
Ensembl chr 3:5,909,022...6,029,333 		JBrowse link
autosomal dominant nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLS1 plastin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chr13:83,307,692...83,434,133
Ensembl chr13:83,308,007...83,434,128 		JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar		 PMID:31273342 NCBI chr 3:28,360,868...28,472,940
Ensembl chr 3:28,360,873...28,473,456 		JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC12A2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 78 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32294086 PMID:32658972 NCBI chr 2:131,016,430...131,109,307
Ensembl chr 2:131,016,418...131,109,299 		JBrowse link
autosomal dominant nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SCD5 stearoyl-CoA desaturase 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 79 OMIM
ClinVar		 PMID:31972369 NCBI chr 8:135,507,346...135,634,031
Ensembl chr 8:135,507,296...135,634,021 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29955957 PMID:32585897 NCBI chr 6:106,545,882...106,693,711
Ensembl chr 6:106,419,943...106,691,625 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29713870 NCBI chr 3:59,369,816...59,401,193
Ensembl chr 3:59,369,820...59,401,151 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30535804 NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128 		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:33268592 NCBI chr16:48,403,338...48,501,453
Ensembl chr16:48,403,568...48,498,885 		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 chr11:78,292,734...78,402,108
Ensembl chr11:78,293,469...78,402,083 		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 chr 6:79,744,928...79,810,241
Ensembl chr 6:79,744,932...79,810,220 		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 ClinVar
OMIM		 PMID:32776944 NCBI chr 6:106,039,262...106,088,125
Ensembl chr 6:106,040,042...106,088,021 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4KB phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 87 ClinVar
OMIM		 PMID:33358777 NCBI chr 4:97,918,234...97,949,929
Ensembl chr 4:97,918,245...97,949,931 		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 OMIM NCBI chr 6:93,764,732...93,804,069
Ensembl chr 6:93,765,128...93,803,894 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATOH1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 89 ClinVar
OMIM		 PMID:25741868 PMID:33111345 NCBI chr 8:125,768,232...125,770,619
Ensembl chr 8:125,768,286...125,770,545 		JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COCH cochlin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 9 OMIM
ClinVar		 PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 90 OMIM
ClinVar		 PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr10:49,392,119...49,623,575 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 chr18:54,310,311...54,430,060
Ensembl chr18:54,310,324...54,430,786 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant OMIM
ClinVar		 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273 		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:28492532 PMID:28951997 PMID:30303587 NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO OMIM:607197 MouseDO NCBI chr 3:71,560,102...71,591,885
Ensembl chr 3:71,561,236...71,591,845 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 6:157,424,389...157,432,571
Ensembl chr 6:157,425,878...157,432,580 		JBrowse link
G C14H10orf105 chromosome 14 C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr 2:5,014,888...5,020,705
Ensembl chr 2:5,014,810...5,020,775 		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 chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23023331 PMID:25741868 PMID:30303587 NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399 		JBrowse link
G CLCNK chloride voltage-gated channel K ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 6:75,178,914...75,192,670 JBrowse link
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525 		JBrowse link
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 7:40,683,044...40,808,017
Ensembl chr 7:40,682,907...40,863,886 		JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr11:50,073,300...50,102,879
Ensembl chr11:50,072,554...50,102,884 		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 chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591 		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 chr 7:99,511,135...99,699,478
Ensembl chr 7:99,514,168...99,699,011 		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 2:75,082,048...75,090,145
Ensembl chr 2:75,083,362...75,089,756 		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 chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:35802133 PMID:37074134 NCBI chr12:17,768,082...17,799,313
Ensembl chr12:17,768,111...17,789,315 		JBrowse link
G GPR156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:37814107 NCBI chr13:139,974,430...140,074,176
Ensembl chr13:140,007,711...140,074,166 		JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chr 4:111,100,912...111,165,902
Ensembl chr 4:111,102,396...111,165,886 		JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 2:147,215,061...147,231,792
Ensembl chr 2:147,216,279...147,232,478 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:15641023 PMID:21255762 PMID:25741868 PMID:30303587 NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 NCBI chr 7:31,624,050...31,642,269
Ensembl chr 7:31,624,450...31,642,268 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992 		JBrowse link
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr16:47,529,857...47,563,485
Ensembl chr16:47,530,068...47,563,482 		JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19650862 PMID:21185009 PMID:30303587 NCBI chr 5:29,695,824...29,863,601
Ensembl chr 5:29,695,640...29,863,599 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 5:11,365,603...11,456,475
Ensembl chr 5:11,360,660...11,456,472 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:17546645 PMID:25741868 PMID:27573290 PMID:28492532 PMID:30303587 NCBI chr12:60,533,502...60,582,645 JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		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 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:20301429 More... NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104 		JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr14:95,530,168...96,388,032 JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:28492532 PMID:31253780 NCBI chr14:112,088,332...112,111,348 JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 More... NCBI chr15:84,157,864...84,165,763
Ensembl chr15:84,158,639...84,165,906 		JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 2:147,693,013...147,694,345
Ensembl chr 2:147,692,751...147,695,346 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 More... NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469 		JBrowse link
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chr13:29,623,905...29,633,016
Ensembl chr13:29,624,154...29,633,013 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:24033266 More... NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824 		JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 3:110,231,899...110,291,523
Ensembl chr 3:110,231,017...110,275,267 		JBrowse link
G TPRN taperin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20170899 PMID:30303587
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 5:10,066,080...10,132,668
Ensembl chr 5:10,066,086...10,126,491 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		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 chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361 		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 chr10:5,825,591...6,662,733 JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222 		JBrowse link
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 100 OMIM
ClinVar		 PMID:15538632 PMID:25741868 PMID:29590114 NCBI chr 2:108,596,733...108,690,859
Ensembl chr 2:108,585,959...108,690,858 		JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 101 OMIM
ClinVar		 PMID:24619944 PMID:25741868 PMID:28492532 NCBI chr 2:147,215,061...147,231,792
Ensembl chr 2:147,216,279...147,232,478 		JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 102 OMIM
ClinVar		 PMID:24033266 PMID:24741995 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113 		JBrowse link
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 103 OMIM
ClinVar		 PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 NCBI chr 7:40,683,044...40,808,017
Ensembl chr 7:40,682,907...40,863,886 		JBrowse link
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 103 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:116,361,630...116,436,471
Ensembl chr 7:116,365,802...116,411,224 		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 chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		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 chr 7:19,609,358...19,842,345
Ensembl chr 7:19,609,358...19,838,093 		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 chr 5:56,817,445...57,005,117
Ensembl chr 5:56,817,606...57,005,113 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:26282398 PMID:28281779 PMID:28492532 More... NCBI chr 2:435,257...452,630
Ensembl chr 2:433,649...452,630 		JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WBP2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 107 OMIM
ClinVar		 PMID:25741868 PMID:26881968 PMID:28492532 NCBI chr12:5,565,112...5,573,277
Ensembl chr12:5,565,137...5,573,274 		JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROR1 receptor tyrosine kinase like orphan receptor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 108 OMIM
ClinVar		 PMID:25741868 PMID:27162350 PMID:28492532 NCBI chr 6:148,314,575...148,834,659
Ensembl chr 6:148,315,286...148,761,524 		JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESRP1 epithelial splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 109 OMIM
ClinVar		 PMID:25741868 PMID:29107558 NCBI chr 4:41,993,944...42,061,706
Ensembl chr 4:41,993,948...42,061,236 		JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COCH cochlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 110 OMIM
ClinVar		 PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077 		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: MPZL2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 More... NCBI chr 9:45,566,365...45,578,168
Ensembl chr 9:45,565,513...45,578,185 		JBrowse link
autosomal recessive nonsyndromic deafness 112 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 112 OMIM
ClinVar		 PMID:24312468 PMID:25741868 NCBI chr16:47,801,273...47,909,513
Ensembl chr16:47,801,315...47,908,851 		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 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761 		JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRAP GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 114 OMIM
ClinVar		 PMID:25741868 PMID:30610177 NCBI chr12:60,261,560...60,281,886
Ensembl chr12:60,260,981...60,281,884 		JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 115 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr12:50,454,051...50,491,172
Ensembl chr12:50,454,063...50,491,164 		JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 116 OMIM
ClinVar		 PMID:25741868 PMID:30311386 PMID:31175426 PMID:35802133 PMID:36633841 NCBI chr 3:39,172,731...39,181,827
Ensembl chr 3:39,172,853...39,174,354 		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 NCBI chr 8:12,551,855...12,564,512
Ensembl chr 8:12,551,892...12,564,379 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG2B AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34626583 NCBI chr 1:126,314,573...126,335,193
Ensembl chr 1:126,313,402...126,335,475 		JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of OMIM
ClinVar		 PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 More... NCBI chr13:66,526,508...66,897,125
Ensembl chr13:66,528,323...66,897,128 		JBrowse link
G C14H10orf105 chromosome 14 C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		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 chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:25741868 NCBI chr14:74,667,081...74,693,347
Ensembl chr14:74,666,624...74,693,281 		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 chr 2:132,413,265...132,428,786
Ensembl chr 2:132,416,040...132,428,922 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chr 2:51,317,538...51,534,246
Ensembl chr 2:51,285,488...51,534,236 		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:37814107 NCBI chr13:139,974,430...140,074,176
Ensembl chr13:140,007,711...140,074,166 		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 chr11:69,361,219...69,442,769
Ensembl chr11:69,361,229...69,443,039 		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 3:17,422,266...17,431,377
Ensembl chr 3:17,416,842...17,431,053 		JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GIPC3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 OMIM
ClinVar		 PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More... NCBI chr 2:75,082,048...75,090,145
Ensembl chr 2:75,083,362...75,089,756 		JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATSPER2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chr 1:127,814,349...127,831,023
Ensembl chr 1:127,814,376...127,829,109 		JBrowse link
G CKMT1A creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 1:127,852,533...127,859,066 JBrowse link
G FRMD5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 1:127,317,660...127,653,112
Ensembl chr 1:127,317,701...127,650,665 		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 chr 1:127,786,174...127,814,096
Ensembl chr 1:127,785,772...127,814,196 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 1:127,865,487...127,915,501
Ensembl chr 1:127,865,562...127,915,451 		JBrowse link
G STRC stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition OMIM
ClinVar		 PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		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 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948 		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 chr11:845,471...925,849
Ensembl chr11:845,475...931,648 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr11:750,658...751,889
Ensembl chr11:750,658...751,800 		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 chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 ClinVar PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542 		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 chr 6:91,004,794...91,008,231
Ensembl chr 6:91,007,200...91,008,000 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM
ClinVar		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085 		JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr11:1,104,270...1,208,144
Ensembl chr11:1,105,014...1,208,116 		JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr11:1,054,816...1,095,118
Ensembl chr11:1,067,061...1,082,591 		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 chr11:845,471...925,849
Ensembl chr11:845,475...931,648 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr11:750,658...751,889
Ensembl chr11:750,658...751,800 		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 chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b OMIM
ClinVar		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr11:943,444...1,025,617
Ensembl chr11:943,469...1,025,613 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr11:1,029,219...1,066,086
Ensembl chr11:1,029,109...1,066,085 		JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr11:1,104,270...1,208,144
Ensembl chr11:1,105,014...1,208,116 		JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr11:1,054,816...1,095,118
Ensembl chr11:1,067,061...1,082,591 		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:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition OMIM
ClinVar		 PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 More... NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274 		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: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 3:23,673,162...23,683,256
Ensembl chr 3:23,673,148...23,683,864 		JBrowse link
G METTL9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 3:23,670,063...23,722,242
Ensembl chr 3:23,670,063...23,722,198 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition OMIM
ClinVar		 PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 More... NCBI chr 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480 		JBrowse link
G UQCRC2 ubiquinol-cytochrome c reductase core protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 3:24,197,743...24,228,831
Ensembl chr 3:24,197,747...24,228,832 		JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 23 OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr14:95,530,168...96,388,032 JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RDX radixin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 24 OMIM
ClinVar		 PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:25741916 More... NCBI chr 9:38,243,608...38,299,561
Ensembl chr 9:38,220,447...38,322,097 		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 8:84,257,958...84,391,511
Ensembl chr 8:84,257,965...84,391,621 		JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIO trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:25741868 PMID:28492532 PMID:32109419 NCBI chr16:3,690,831...3,921,554
Ensembl chr16:3,564,171...3,921,553 		JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition OMIM
ClinVar		 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 PMID:24033266 More... NCBI chr 5:10,066,080...10,132,668
Ensembl chr 5:10,066,086...10,126,491 		JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 29 OMIM
ClinVar		 PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 More... NCBI chr13:200,121,796...200,201,712
Ensembl chr13:200,128,477...200,145,525 		JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:72,572,455...72,754,443
Ensembl chr 4:72,573,453...72,694,146 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 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 chr12:60,533,502...60,582,645 JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 30 | ClinVar Annotator: match by term: MYO3A-related condition OMIM
ClinVar		 PMID:9536098 PMID:12032315 PMID:17344846 PMID:17576681 PMID:21165622 More... NCBI chr10:49,392,119...49,623,575 JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WHRN whirlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF OMIM
ClinVar		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:17576681 More... NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222 		JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC14A cell division cycle 14A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32 OMIM
ClinVar		 PMID:12634867 PMID:24033266 PMID:25741868 PMID:27259055 PMID:28492532 More... NCBI chr 4:117,635,849...117,804,568
Ensembl chr 4:117,635,861...117,805,254 		JBrowse link
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESRRB estrogen related receptor beta ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 35 OMIM
ClinVar		 PMID:12529709 PMID:18179891 PMID:22951369 PMID:23767834 PMID:24033266 More... NCBI chr 7:99,511,135...99,699,478
Ensembl chr 7:99,514,168...99,699,011 		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, with or without vestibular involvement | 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 chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591 		JBrowse link
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition OMIM
ClinVar		 PMID:9536098 PMID:11167014 PMID:12687499 PMID:16199547 PMID:17576681 More... NCBI chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734 		JBrowse link
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGF hepatocyte growth factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 39 OMIM
ClinVar		 PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:98,437,771...98,513,573
Ensembl chr 9:98,438,143...98,513,564 		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 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761 		JBrowse link
G FOXI1 forkhead box I1 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 OMIM
ClinVar		 PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 More... NCBI chr16:53,835,350...53,839,185
Ensembl chr16:53,835,399...53,839,187 		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: 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:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 More... NCBI chr 4:90,421,956...90,457,406
Ensembl chr 4:90,422,025...90,457,406 		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 chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G LPIN2 lipin 2 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 ClinVar PMID:20032092 PMID:20645851 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:103,625,725...103,728,151
Ensembl chr 6:103,687,743...103,728,148 		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, 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 chr 9:107,365,121...107,431,065
Ensembl chr 9:107,365,814...107,431,062 		JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 42 | ClinVar Annotator: match by term: ILDR1-related condition OMIM
ClinVar		 PMID:15641023 PMID:21255762 PMID:24033266 PMID:25668204 PMID:25741868 More... NCBI chr13:138,530,905...138,575,483
Ensembl chr13:138,530,910...138,572,189 		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: Deafness, autosomal recessive 44 OMIM
ClinVar		 PMID:15583425 PMID:24033266 PMID:24482543 PMID:24824130 PMID:25741868 More... NCBI chr18:50,043,572...50,143,549
Ensembl chr18:50,051,364...50,143,628 		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: Deafness, autosomal recessive 48 OMIM
ClinVar		 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 More... NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399 		JBrowse link
G SH2D7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 48 ClinVar PMID:25741868 NCBI chr 7:47,812,996...47,824,926
Ensembl chr 7:47,813,512...47,824,760 		JBrowse link
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 OMIM
ClinVar		 PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 More... NCBI chr16:47,529,857...47,563,485
Ensembl chr16:47,530,068...47,563,482 		JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 53 OMIM
ClinVar		 PMID:10677296 PMID:15558753 PMID:16033917 PMID:21204229 PMID:22246659 More... NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888 		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 OMIM
ClinVar		 PMID:16199547 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 More... NCBI chr14:112,088,332...112,111,348 JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PJVK pejvakin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 OMIM
ClinVar		 PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 More... NCBI chr15:84,157,864...84,165,763
Ensembl chr15:84,158,639...84,165,906 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr15:84,134,273...84,156,596
Ensembl chr15:84,133,687...84,156,508 		JBrowse link
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by 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 chr13:29,623,905...29,633,016
Ensembl chr13:29,624,154...29,633,013 		JBrowse link
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 61 OMIM
ClinVar		 PMID:12239568 PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 More... NCBI chr 9:103,382,558...103,420,054
Ensembl chr 9:103,378,776...103,453,730 		JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 PMID:25788562 PMID:26467025 PMID:28492532 NCBI chr 9:6,685,934...6,689,913
Ensembl chr 9:6,685,939...6,689,256 		JBrowse link
G LRRC51 leucine-rich repeat-containing protein 51 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 NCBI chr 9:6,663,122...6,673,272
Ensembl chr 9:6,663,134...6,673,271 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr 9:6,591,943...6,662,966
Ensembl chr 9:6,591,945...6,662,085 		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 chr 7:19,044,229...19,219,055
Ensembl chr 7:19,048,088...19,219,075 		JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 67 | ClinVar Annotator: match by term: LHFPL5-related condition OMIM
ClinVar		 PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:25741905 More... NCBI chr 7:31,624,050...31,642,269
Ensembl chr 7:31,624,450...31,642,268 		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 OMIM
ClinVar		 PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26805784 More... NCBI chr 2:69,050,396...69,057,270
Ensembl chr 2:69,049,270...69,057,270 		JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:35802133 PMID:36633841 NCBI chr 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7 OMIM
ClinVar		 PMID:9536098 PMID:11850618 PMID:16134132 PMID:16199547 PMID:16287143 More... NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469 		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 chr 3:85,595,356...85,639,665
Ensembl chr 3:85,595,392...85,639,690 		JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSRB3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 74 OMIM
ClinVar		 PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chr 5:29,695,824...29,863,601
Ensembl chr 5:29,695,640...29,863,599 		JBrowse link
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNE4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 76 OMIM
ClinVar		 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 More... NCBI chr 6:45,377,914...45,384,869
Ensembl chr 6:45,380,218...45,384,671 		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: Deafness, autosomal recessive 77 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16936105 PMID:17576681 PMID:19732867 More... NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992 		JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 79 ClinVar PMID:25741868
G TPRN taperin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 79 OMIM
ClinVar		 PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:26969326 More...
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: TMPRSS3-related condition OMIM
ClinVar		 PMID:3285355 PMID:9536098 PMID:11137999 PMID:11424922 PMID:11462234 More... NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824 		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, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84 OMIM
ClinVar		 PMID:20346435 PMID:25741868 PMID:26467025 NCBI chr 5:100,787,025...101,081,145
Ensembl chr 5:100,787,027...101,033,334 		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 chr 5:101,099,525...101,318,254
Ensembl chr 5:101,100,282...101,251,884 		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 3:39,585,597...39,603,088
Ensembl chr 3:39,585,607...39,603,079 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86 OMIM
ClinVar		 PMID:22211675 PMID:22277662 PMID:24033266 PMID:24387994 PMID:24729539 More... NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277 		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 chr 3:59,369,816...59,401,193
Ensembl chr 3:59,369,820...59,401,151 		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 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748 		JBrowse link
autosomal recessive nonsyndromic deafness 9 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: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G CEP135 centrosomal protein 135 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:28866084 NCBI chr 8:55,250,902...55,323,396
Ensembl chr 8:55,251,005...55,323,350 		JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 2:143,158,691...143,271,110
Ensembl chr 2:143,158,585...143,271,147 		JBrowse link
G IGSF6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 3:23,673,162...23,683,256
Ensembl chr 3:23,673,148...23,683,864 		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 3:23,670,063...23,722,242
Ensembl chr 3:23,670,063...23,722,198 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr MT:14,739...15,266
Ensembl chr MT:14,739...15,266 		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 chr13:130,624,771...130,718,345
Ensembl chr13:130,624,796...130,719,083 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480 		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 chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104 		JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:84,676,627...84,683,517
Ensembl chr  X:84,666,733...84,685,058 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,398...106,723,404 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:84,721,269...84,733,000
Ensembl chr  X:84,721,274...84,732,990 		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 chr12:60,751,159...60,854,710
Ensembl chr12:60,755,521...60,766,058 		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 chr 5:83,741,641...83,809,472
Ensembl chr 5:83,741,715...83,800,808 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 4:421,457...429,360
Ensembl chr 4:421,474...424,384 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:18381613 PMID:25008054 PMID:28492532 PMID:33111345 NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274 		JBrowse link
G TTR transthyretin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:14640030 PMID:15123043 PMID:15299640 PMID:15645642 PMID:17338921 More... NCBI chr 6:115,496,338...115,503,974
Ensembl chr 6:115,496,326...115,503,977 		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 2:72,599,244...72,605,362
Ensembl chr 2:72,599,140...72,605,361 		JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC106504299 serpin B6 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20451170 PMID:24033266 PMID:25741868 More... NCBI chr 7:1,755,252...1,776,144
Ensembl chr 7:1,752,689...1,776,087 		JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 93 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22981119 PMID:24033266 PMID:25741868 More... NCBI chr 2:5,014,888...5,020,705
Ensembl chr 2:5,014,810...5,020,775 		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: Deafness, autosomal recessive 94 OMIM
ClinVar		 PMID:25741868 PMID:25807530 PMID:28492532 NCBI chr 9:12,869,347...13,010,897
Ensembl chr 9:12,867,686...13,010,887 		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 ClinVar
OMIM		 PMID:12920089 PMID:19318576 PMID:19723643 PMID:20139696 PMID:21774103 More... NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TSPEAR thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 OMIM
ClinVar		 PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chr13:207,285,878...207,412,523
Ensembl chr13:207,285,886...207,412,511 		JBrowse link
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM132E transmembrane protein 132E ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 99 OMIM
ClinVar		 PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr12:40,480,535...40,535,004
Ensembl chr12:40,481,784...40,494,148 		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 chr 6:128,071,503...128,113,292
Ensembl chr 6:128,030,715...128,113,288 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:146,022,975...146,228,847
Ensembl chr 1:146,022,978...146,221,769 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:145,769,763...145,811,673
Ensembl chr 1:145,769,771...145,811,678 		JBrowse link
G GALR1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,442,977...147,466,731
Ensembl chr 1:147,443,821...147,463,542 		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 chr 6:127,960,330...127,972,241
Ensembl chr 6:127,960,266...127,973,191 		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 chr 6:127,830,032...127,891,294
Ensembl chr 6:127,866,238...127,891,916 		JBrowse link
G MBP myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,649,516...147,685,289
Ensembl chr 1:147,590,865...147,685,290 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:145,940,099...146,002,897
Ensembl chr 1:145,911,046...146,008,139 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:128,161,610...128,250,708
Ensembl chr 6:128,162,600...128,250,663 		JBrowse link
G RBFA ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:128,030,397...128,048,061
Ensembl chr 6:128,030,723...128,053,494 		JBrowse link
G SALL3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:146,251,591...146,273,778
Ensembl chr 1:146,252,155...146,273,906 		JBrowse link
G SLC66A2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 6:127,894,111...127,952,268
Ensembl chr 6:127,894,111...127,952,225 		JBrowse link
G TXNL4A thioredoxin like 4A ISO ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome OMIM
ClinVar		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chr 6:127,975,164...127,991,112
Ensembl chr 6:127,974,543...127,991,177 		JBrowse link
G ZNF236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,690,545...147,782,162
Ensembl chr 1:147,690,556...147,782,129 		JBrowse link
G ZNF516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr 1:147,987,660...148,100,788
Ensembl chr 1:147,984,481...148,087,719 		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 susceptibility ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093 		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 SPTBN4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28540413 PMID:29861105 PMID:34440880 NCBI chr 6:48,729,839...48,812,799
Ensembl chr 6:48,729,419...48,812,796 		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 2:15,185,482...15,191,189
Ensembl chr 2:15,166,306...15,193,047 		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 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748 		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:24033266 PMID:28492532 NCBI chr12:60,533,502...60,582,645 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:82,981,512...83,014,475
Ensembl chr  X:82,981,515...83,014,573 		JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Deafness dystonia syndrome OMIM
ClinVar		 PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... NCBI chr  X:82,978,128...82,981,038
Ensembl chr  X:82,974,270...82,980,769 		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 2:38,465...55,074
Ensembl chr 2:38,464...55,101 		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 chr15:139,957,703...140,025,336
Ensembl chr15:139,957,715...140,022,302 		JBrowse link
G POR cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr 3:10,212,734...10,272,184
Ensembl chr 3:10,212,735...10,281,823 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 2:15,194,028...15,202,936
Ensembl chr 2:15,194,017...15,210,425 		JBrowse link
Hearing Loss, Cisplatin-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACYP2 acylphosphatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25665007 NCBI chr 3:86,945,635...87,231,376
Ensembl chr 3:86,945,647...87,109,139 		JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha treatment ISO RGD PMID:23558232 RGD:9685025 NCBI chr 2:151,248,356...151,353,907
Ensembl chr 2:151,248,358...151,308,706 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta treatment ISO RGD PMID:23558232 RGD:9685025 NCBI chr18:50,862,225...50,956,263
Ensembl chr18:50,861,466...50,956,225 		JBrowse link
G CAT catalase ISO protein:decreased expression:cochlear: RGD PMID:10220857 RGD:9197256 NCBI chr 2:26,493,664...26,533,881
Ensembl chr 2:26,487,653...26,581,452 		JBrowse link
G COMT catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898482 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,738...51,403,998 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:19666099 RGD:10045579 NCBI chr13:140,136,109...140,370,197
Ensembl chr13:140,136,158...140,369,569 		JBrowse link
G TPMT thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898482 NCBI chr 7:13,821,656...13,846,107
Ensembl chr 7:13,820,866...13,846,012 		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 OMIM
ClinVar		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chr11:56,508,713...56,522,270
Ensembl chr11:56,508,767...56,522,197 		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:33811157 NCBI chr12:10,393,172...10,538,423
Ensembl chr12:10,393,179...10,558,169 		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 chr14:46,469,462...46,520,175
Ensembl chr14:46,469,430...46,520,153 		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 chr11:19,349,088...19,377,931
Ensembl chr11:19,349,134...19,377,917 		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: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:109,306,489...109,421,947
Ensembl chr  X:109,306,368...109,421,785 		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 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		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 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748 		JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 More... NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,880...55,272,085 		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
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 chr 2:56,892,241...56,977,412
Ensembl chr 2:56,892,243...56,977,228 		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 NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408 		JBrowse link
G GDF5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr17:38,792,854...38,796,806
Ensembl chr17:38,792,187...38,797,005 		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 chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206 		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 chr12:1,320,355...1,323,219
Ensembl chr12:1,313,641...1,323,217 		JBrowse link
G ALG10 ALG10 alpha-1,2-glucosyltransferase ISO MouseDO NCBI chr 5:40,416,335...40,423,026 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 chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25589040 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr 6:51,217,085...51,228,458
Ensembl chr 6:51,220,812...51,231,761 		JBrowse link
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 NCBI chr 3:39,172,731...39,181,827
Ensembl chr 3:39,172,853...39,174,354 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:9931344 PMID:10400989 PMID:11332404 PMID:14512963 PMID:16151338 More... NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25633957 PMID:28492532 NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,497...25,234,888 		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:88,958,837...89,183,306
Ensembl chr  X:88,958,849...89,183,372 		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 chr11:845,471...925,849
Ensembl chr11:845,475...931,648 		JBrowse link
G DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:16244493 PMID:25601850 NCBI chr 7:19,044,229...19,219,055
Ensembl chr 7:19,048,088...19,219,075 		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 chr 1:30,260,784...30,575,593
Ensembl chr 1:30,261,917...30,533,604 		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 chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:91,031,378...91,037,548
Ensembl chr 6:91,031,849...91,037,542 		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 chr11:793,276...800,109
Ensembl chr11:793,280...800,046 		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:25741868 More... NCBI chr18:47,524,637...47,583,748
Ensembl chr18:47,526,797...47,583,731 		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 6:12,057,475...12,073,749
Ensembl chr 6:12,056,571...12,073,748 		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 chr 6:170,346,135...170,401,534
Ensembl chr 6:170,346,141...170,401,718 		JBrowse link
G KLC2 kinesin light chain 2 ISO MouseDO NCBI chr 2:6,117,236...6,127,048
Ensembl chr 2:6,116,429...6,126,951 		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 chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:19732867 PMID:21465660 PMID:22975204 PMID:23226338 PMID:24033266 More... NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,080,824...96,276,992 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive ClinVar PMID:25941349 NCBI chr18:29,426,044...29,541,526
Ensembl chr18:29,426,048...29,541,512 		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 chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093 		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 chr 1:209,181,441...209,351,797
Ensembl chr 1:209,181,467...209,349,297 		JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,380...5,632,607 		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:17546645 PMID:20642360 PMID:23208854 More... NCBI chr12:60,533,502...60,582,645 JBrowse link
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr10:49,392,119...49,623,575 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 chr 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734 		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:10094549 PMID:10930322 PMID:15300860 PMID:15823922 More... NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		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:10903124 PMID:12114484 PMID:12127154 PMID:12525542 PMID:14635104 More... NCBI chr 3:112,478,188...112,581,105
Ensembl chr 3:112,478,027...112,581,104 		JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:24033266 NCBI chr 2:41,497,201...41,590,564
Ensembl chr 2:41,497,200...41,584,948 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28281779 PMID:28492532 NCBI chr14:95,530,168...96,388,032 JBrowse link
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO MouseDO NCBI chr 2:108,596,733...108,690,859
Ensembl chr 2:108,585,959...108,690,858 		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 chr 1:127,830,759...127,852,392
Ensembl chr 1:127,835,622...127,852,339 		JBrowse link
G SYNE4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 NCBI chr 6:45,377,914...45,384,869
Ensembl chr 6:45,380,218...45,384,671 		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 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277 		JBrowse link
G TECTA tectorin alpha ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11087000 PMID:12746400 PMID:16718611 PMID:17431902 PMID:21520338 More... NCBI chr 9:48,120,786...48,286,275
Ensembl chr 9:48,211,798...48,286,274
Ensembl chr 9:48,211,798...48,286,274 		JBrowse link
G TGFA transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 3:71,948,232...72,054,257
Ensembl chr 3:71,948,137...72,050,474 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,879...99,162,232 		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:18616530 PMID:19187973 PMID:21917145 PMID:24033266 PMID:24416283 More... NCBI chr 1:225,714,601...226,111,045
Ensembl chr 1:225,929,109...226,109,469 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11907649 PMID:12920079 PMID:21786053 PMID:24033266 PMID:24526180 More... NCBI chr13:205,707,501...205,733,037
Ensembl chr13:205,709,663...205,732,824 		JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:24033266 NCBI chr 5:10,066,080...10,132,668
Ensembl chr 5:10,066,086...10,126,491 		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 chr10:5,825,591...6,662,733 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 chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273 		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 chr 9:114,202,494...114,218,371
Ensembl chr 9:114,202,484...114,218,368 		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 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr12:45,082,931...45,091,278
Ensembl chr12:45,083,003...45,088,673 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 More... NCBI chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709 		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 chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327 		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 chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		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 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475 		JBrowse link
G FBN1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr 1:123,102,011...123,359,649
Ensembl chr 1:123,102,009...123,359,649 		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 chr 3:91,607,236...91,775,255
Ensembl chr 3:91,607,305...91,774,683 		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 chr 2:123,313,445...123,401,386
Ensembl chr 2:123,313,448...123,402,709 		JBrowse link
G PRORP protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 NCBI chr 7:64,620,514...64,763,272
Ensembl chr 7:64,620,517...64,762,428 		JBrowse link
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: Perrault syndrome 2 OMIM
ClinVar		 PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619 		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: Perrault syndrome 3 OMIM
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 More... NCBI chr 2:72,707,363...72,713,481
Ensembl chr 2:72,707,158...72,713,475 		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 chr13:28,524,778...28,692,327
Ensembl chr13:28,524,796...28,692,327 		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:25355836 PMID:25741868 PMID:27551684 PMID:27650058 PMID:28178980 More... NCBI chr14:112,068,463...112,076,169
Ensembl chr14:112,069,925...112,075,792 		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 chr12:45,082,931...45,091,278
Ensembl chr12:45,083,003...45,088,673 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H10orf105 chromosome 14 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		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 chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		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 chr10:20,137,246...20,332,539
Ensembl chr10:20,137,451...20,332,414 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr14:95,530,168...96,388,032 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 chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr10:5,825,591...6,662,733 JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr14:74,667,081...74,693,347
Ensembl chr14:74,666,624...74,693,281 		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 chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222 		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: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr17:46,742,662...46,745,898
Ensembl chr17:46,739,973...46,745,982 		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:21131953 PMID:24033266 PMID:25741868 PMID:25741905 PMID:26467025 More... NCBI chr13:35,568,534...35,911,483
Ensembl chr13:35,436,519...35,909,662 		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: Temtamy preaxial brachydactyly syndrome OMIM
ClinVar		 PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr 1:139,730,703...139,804,458
Ensembl chr 1:139,730,721...139,804,657 		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 susceptibility ISO ClinVar Annotator: match by term: Tietz syndrome OMIM
ClinVar		 PMID:2440678 PMID:8589691 PMID:8659547 PMID:9279758 PMID:9536098 More... NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,093 		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:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More... NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748 		JBrowse link
G ARSG arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr12:11,751,930...11,882,844
Ensembl chr12:11,751,937...11,843,055 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 3:71,560,102...71,591,885
Ensembl chr 3:71,561,236...71,591,845 		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 2:5,886,989...5,906,468
Ensembl chr 2:5,886,990...5,906,388 		JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:9,659,876...9,684,115
Ensembl chr10:9,659,487...9,683,912 		JBrowse link
G C10H1orf115 chromosome 10 C1orf115 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:10,115,917...10,127,722
Ensembl chr10:10,115,923...10,127,714 		JBrowse link
G C14H10orf105 chromosome 14 C10orf105 homolog 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 Annotator: match by term: Dystrophia retinae pigmentosa-dysostosis 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:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:5,068,535...5,079,482
Ensembl chr 2:5,068,037...5,072,188 		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 chr12:2,341,953...2,384,066
Ensembl chr12:2,341,957...2,384,025 		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: Usher syndrome ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G CEP250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 NCBI chr17:38,809,724...38,872,796
Ensembl chr17:38,810,522...38,867,203 		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 chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399 		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 chr13:91,104,850...91,152,397
Ensembl chr13:91,106,207...91,148,031 		JBrowse link
G COCH cochlin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 7:68,580,124...68,595,142
Ensembl chr 7:68,576,153...68,594,077 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,476,257...128,595,477 		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 chr10:20,137,246...20,332,539
Ensembl chr10:20,137,451...20,332,414 		JBrowse link
G CRX cone-rod homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 6:53,506,410...53,509,858
Ensembl chr 6:53,506,410...53,512,190 		JBrowse link
G DGKQ diacylglycerol kinase theta ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 8:313,325...325,089
Ensembl chr 8:313,329...325,095 		JBrowse link
G DUSP10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:10,866,446...10,905,852
Ensembl chr10:10,866,448...10,905,857 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:9,579,301...9,648,416
Ensembl chr10:9,579,304...9,648,414 		JBrowse link
G ESRRG estrogen related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:6,710,615...7,371,419
Ensembl chr10:6,712,860...6,941,501 		JBrowse link
G FMC1 formation of mitochondrial complex V assembly factor 1 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr18:10,346,029...10,350,372
Ensembl chr18:10,346,032...10,350,339 		JBrowse link
G GPATCH2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:7,615,121...7,797,227
Ensembl chr10:7,615,604...7,797,214 		JBrowse link
G GUCA1A guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chr 7:37,282,630...37,296,713
Ensembl chr 7:37,282,700...37,296,717 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208 		JBrowse link
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
G HHIPL2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:11,315,847...11,345,043
Ensembl chr10:11,315,849...11,336,308 		JBrowse link
G HLX H2.0 like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:10,263,441...10,269,882
Ensembl chr10:10,264,244...10,269,879 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:9,685,641...9,739,816
Ensembl chr10:9,685,678...9,737,159 		JBrowse link
G LOC102162486 putative RNA-binding protein Luc7-like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr18:10,268,077...10,333,227
Ensembl chr18:10,268,960...10,333,156 		JBrowse link
G LOC106504299 serpin B6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 7:1,755,252...1,776,144
Ensembl chr 7:1,752,689...1,776,087 		JBrowse link
G LYPLAL1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:8,946,463...9,061,033
Ensembl chr10:8,946,487...9,062,412 		JBrowse link
G MARK1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:9,980,277...10,106,507
Ensembl chr10:9,980,383...10,104,867 		JBrowse link
G MIR194B microRNA mir-194b ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:9,704,910...9,704,987
Ensembl chr10:9,704,910...9,704,987 		JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:10,190,759...10,264,467
Ensembl chr10:10,190,835...10,216,175 		JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:10,156,732...10,194,371
Ensembl chr10:10,156,728...10,189,924 		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: Dystrophia retinae pigmentosa-dysostosis syndrome | 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:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:23,570,216...23,662,948
Ensembl chr 3:23,570,382...23,662,480 		JBrowse link
G PAX3 paired box 3 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:124,093,803...124,193,041
Ensembl chr15:124,094,295...124,193,011 		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 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr14:95,530,168...96,388,032 JBrowse link
G PDE6A phosphodiesterase 6A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chr 2:150,926,652...150,986,050
Ensembl chr 2:150,927,770...150,985,318 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr14:112,088,332...112,111,348 JBrowse link
G PROM1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 8:11,215,659...11,331,442
Ensembl chr 8:11,215,663...11,317,312 		JBrowse link
G PRPH2 peripherin 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr 7:37,788,547...37,805,142
Ensembl chr 7:37,790,178...37,805,142 		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 chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:9,734,766...9,828,330
Ensembl chr10:9,734,768...9,828,525 		JBrowse link
G RRP15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:8,253,798...8,296,143
Ensembl chr10:8,253,822...8,303,860 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:9,527,523...9,545,493 JBrowse link
G SPATA17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:7,797,448...8,120,892
Ensembl chr10:7,797,502...7,971,824 		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 chr10:11,340,637...11,362,432
Ensembl chr10:11,340,642...11,362,432 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,539...8,390,341 		JBrowse link
G USH1C USH1 protein network component harmonin treatment 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		 RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695937 NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361 		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: Usher syndrome		 RGD
ClinVar		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... RGD:8547956 NCBI chr10:5,825,591...6,662,733 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 chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222 		JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr 2:5,874,509...5,883,525 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 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748 		JBrowse link
G C14H10orf105 chromosome 14 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 chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		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 chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		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 chr14:95,530,168...96,388,032 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 chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763 		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 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		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 chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361 		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 chr10:5,825,591...6,662,733 JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H10orf105 chromosome 14 C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		JBrowse link
G CDH23 cadherin related 23 ISO 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 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G MYO7A myosin VIIA treatment ISO 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:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... RGD:8694151 NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		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 I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr14:95,530,168...96,388,032 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 chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763 		JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		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 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C14H10orf105 chromosome 14 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:15537665 PMID:15660226 More... NCBI chr14:74,630,827...74,639,180
Ensembl chr14:74,629,796...74,638,022 		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:9536098 PMID:11090341 PMID:11138009 More... NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		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 chr14:95,530,168...96,388,032 JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr14:74,734,185...74,820,645
Ensembl chr14:74,734,189...74,887,763 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr14:74,667,081...74,693,347
Ensembl chr14:74,666,624...74,693,281 		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 chr14:95,530,168...96,388,032 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 chr14:95,530,168...96,388,032 JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: USH1G-related condition | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chr12:6,333,640...6,341,083
Ensembl chr12:6,334,310...6,340,361 		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:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 More... NCBI chr 7:47,807,806...47,813,400
Ensembl chr 7:47,788,646...47,813,399 		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: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 6:67,284,106...67,316,577
Ensembl chr 6:67,284,079...67,316,591 		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 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748 		JBrowse link
G CDH23 cadherin related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 9:11,251,187...11,337,618
Ensembl chr 9:11,249,075...11,666,296 		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 2:41,593,793...41,646,777
Ensembl chr 2:41,593,802...41,647,247 		JBrowse link
G USH2A usherin susceptibility ISO DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:mutations:multiple (human)
DNA:snp:intron:c.7595-2144A>G (human)
DNA:insertion, deletions, snps:multiple (human)		 RGD
ClinVar		 PMID:2564938 PMID:9536098 PMID:10729113 PMID:10738000 PMID:10909849 More... RGD:8547952 RGD:8547962 RGD:8547965 RGD:8547985 NCBI chr10:5,825,591...6,662,733 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 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748 		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 chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr10:5,754,180...5,815,126
Ensembl chr10:5,754,156...5,815,086 		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 chr14:112,088,332...112,111,348 JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chr14:6,440,309...6,443,104
Ensembl chr14:6,440,309...6,443,095 		JBrowse link
G USH2A usherin susceptibility ISO 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:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... RGD:8547961 RGD:8547987 NCBI chr10:5,825,591...6,662,733 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: ADGRV1-related condition | ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic OMIM
ClinVar		 PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748 		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 chr 6:83,598,363...83,608,617
Ensembl chr 6:83,598,372...83,608,607 		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 8:73,502,368...73,959,454
Ensembl chr 8:73,502,717...73,957,375 		JBrowse link
G LOC110257071 gamma-crystallin C-like ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr15:111,256,707...111,258,291
Ensembl chr15:111,256,725...111,258,277 		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:25741868 PMID:26467025 PMID:26849169 More... NCBI chr14:112,088,332...112,111,348 JBrowse link
G SLC4A7 solute carrier family 4 member 7 ISO OMIM:605472 MouseDO NCBI chr13:13,933,552...14,043,108
Ensembl chr13:13,933,711...14,043,058 		JBrowse link
G WDR36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr 2:115,835,099...115,907,643
Ensembl chr 2:115,861,811...115,906,304 		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:12833159 PMID:15841483 PMID:17171570 PMID:17576681 More... NCBI chr 1:255,009,765...255,095,281
Ensembl chr 1:255,009,771...255,095,222 		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 chr13:91,104,850...91,152,397
Ensembl chr13:91,106,207...91,148,031 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208 		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: 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 chr13:91,104,850...91,152,397
Ensembl chr13:91,106,207...91,148,031 		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 chr10:5,825,591...6,662,733 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 chr 2:142,384,526...142,387,407
Ensembl chr 2:142,384,532...142,387,199 		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 chr 2:142,387,563...142,401,232
Ensembl chr 2:142,385,872...142,401,208 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr 2:142,401,279...142,410,253
Ensembl chr 2:142,401,328...142,409,619 		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 chr12:11,751,930...11,882,844
Ensembl chr12:11,751,937...11,843,055 		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 chr12:11,662,344...11,681,490
Ensembl chr12:11,662,347...11,681,373 		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:19357117 PMID:22135276 PMID:22147658 More... NCBI chr 2:97,703,648...98,277,847
Ensembl chr 2:97,735,053...98,275,748 		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:26849169 PMID:28492532 More... NCBI chr14:112,088,332...112,111,348 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 chr14:74,267,547...74,734,623
Ensembl chr14:74,223,089...74,733,834 		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 chr14:95,530,168...96,388,032 JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:475,164...496,510
Ensembl chr 8:475,888...496,002 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:365,367...378,384
Ensembl chr 8:365,181...378,375 		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 chr 8:898,178...926,500
Ensembl chr 8:898,181...926,593 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr 8:938,832...1,018,032
Ensembl chr 8:964,893...1,018,028 		JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr 4:87,162,873...87,194,193
Ensembl chr 4:87,162,818...87,194,170 		JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:3,922...4,876
Ensembl chr MT:3,922...4,876 		JBrowse link
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:11244483 PMID:12754709 PMID:12955714 More... NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273 		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:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More... NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273 		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: Wolfram syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More... NCBI chr 8:118,152,580...118,164,695
Ensembl chr 8:118,152,227...118,164,689 		JBrowse link
G SLC9B1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 8:118,052,091...118,134,685
Ensembl chr 8:118,052,500...118,155,396 		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:88,545,924...88,633,328
Ensembl chr  X:88,548,751...88,633,321 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 More... NCBI chr15:128,472,228...128,612,302
Ensembl chr15:128,476,257...128,595,477 		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:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 More... NCBI chr  X:88,958,837...89,183,306
Ensembl chr  X:88,958,849...89,183,372 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:88,634,925...88,750,938
Ensembl chr  X:88,634,930...88,957,416 		JBrowse link
G FN1 fibronectin 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr15:117,658,158...117,737,145
Ensembl chr15:117,658,099...117,731,014 		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 chr17:3,859,903...3,939,612
Ensembl chr17:3,859,692...3,939,726 		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 9:38,133,440...38,209,365
Ensembl chr 9:38,138,004...38,207,027 		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:88,074,861...88,101,925
Ensembl chr  X:88,074,965...88,101,910 		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 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		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:12788524 PMID:14708603 More... NCBI chr11:793,276...800,109
Ensembl chr11:793,280...800,046 		JBrowse link
G POU3F4 POU class 3 homeobox 4 ISO 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 OMIM
ClinVar		 PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 More... NCBI chr  X:66,765,044...66,766,642
Ensembl chr  X:66,765,105...66,766,190 		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 | ClinVar Annotator: match by term: Deafness, X-linked 4 OMIM
ClinVar		 PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More... NCBI chr  X:17,889,030...17,938,206
Ensembl chr  X:17,889,030...17,938,293 		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: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | 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:31850270 NCBI chr  X:106,676,596...106,708,290
Ensembl chr  X:106,670,520...106,708,317 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | 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:31850270 NCBI chr  X:106,708,402...106,723,803
Ensembl chr  X:106,712,398...106,723,404 		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:88,634,925...88,750,938
Ensembl chr  X:88,634,930...88,957,416 		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: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome OMIM
ClinVar		 PMID:25741868 NCBI chr  X:83,811,733...83,892,476
Ensembl chr  X:83,803,177...83,892,475 		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: Mental retardation Gustavson type, X-linked OMIM
ClinVar		 PMID:25741905 NCBI chr  X:111,965,859...111,974,544
Ensembl chr  X:111,962,633...111,974,472 		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: 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: Mental retardation-hypotonic facies syndrome X-linked, 1 | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1 OMIM
ClinVar		 PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 More... NCBI chr  X:61,584,028...61,872,341
Ensembl chr  X:61,584,848...61,872,287 		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 2:70,063,601...70,068,821
Ensembl chr 2:70,063,519...70,068,821 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:25741868 NCBI chr  X:46,281,958...46,444,315
Ensembl chr  X:46,281,967...46,444,228 		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:17,889,030...17,938,206
Ensembl chr  X:17,889,030...17,938,293 		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  X:34,238,961...34,522,814
Ensembl chr  X:34,228,124...34,296,589 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    sensory system disease 6506
      Hearing Disorders 768
        Hearing Loss 763
          Deafness 367
            3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 26
            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 15
            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 1
            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 + 82
            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 1
            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 + 9
            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 1
            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 + 213
            spastic paraplegia with deafness 0
            temtamy preaxial brachydactyly syndrome 1
Path 2
Term Annotations click to browse term
  disease 17415
    Pathological Conditions, Signs and Symptoms 11801
      Signs and Symptoms 9739
        Neurologic Manifestations 9419
          sensory system disease 6506
            Otorhinolaryngologic Diseases 1658
              auditory system disease 940
                Hearing Disorders 768
                  Hearing Loss 763
                    Deafness 367
                      3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 26
                      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 15
                      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 1
                      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 + 82
                      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 1
                      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 + 9
                      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 1
                      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 + 213
                      spastic paraplegia with deafness 0
                      temtamy preaxial brachydactyly syndrome 1
paths to the root