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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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19043416 NCBI chr 1:33,007,940...33,036,883
Ensembl chr 1:33,007,986...33,080,996 		JBrowse link
G AQP4 aquaporin 4 ISO RGD PMID:11406631 RGD:734598 NCBI chr18:26,852,038...26,865,803
Ensembl chr18:26,852,043...26,865,771 		JBrowse link
G BDNF brain derived neurotrophic factor treatment IDA
EXP
ISO		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:18607918 PMID:19365690 PMID:21452221 PMID:23150788 RGD:8639313, RGD:8655576 NCBI chr11:27,654,893...27,722,030
Ensembl chr11:27,654,893...27,722,058 		JBrowse link
G BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB IAGP ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 5:71,455,651...71,578,288
Ensembl chr 5:71,455,651...71,567,820 		JBrowse link
G CACNA1D calcium voltage-gated channel subunit alpha1 D ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15357422 PMID:10929716 RGD:1300292 NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G CDC14A cell division cycle 14A EXP CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 1:100,345,001...100,520,277
Ensembl chr 1:100,345,001...100,520,277 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G CLDN14 claudin 14 susceptibility IAGP
EXP		 DNA:deletion, missense mutation: :398delT, p.V85D
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11163249 PMID:11163249 RGD:1600866 NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569 		JBrowse link
G COCH cochlin susceptibility IAGP deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations RGD PMID:9806553 RGD:1600878 NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
G CRYM crystallin mu IAGP DNA:missense mutation:cds:p.K314T (human) RGD PMID:12471561 RGD:734836 NCBI chr16:21,258,521...21,303,062
Ensembl chr16:21,238,874...21,303,083 		JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329 		JBrowse link
G ESPN espin ISO
EXP		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15286153 PMID:15930085 PMID:10975527 RGD:734943 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
G ESR2 estrogen receptor 2 ISO RGD PMID:19293293 RGD:8553051 NCBI chr14:64,226,707...64,338,613
Ensembl chr14:64,084,232...64,338,112 		JBrowse link
G GJB1 gap junction protein beta 1 treatment ISO RGD PMID:21813206 RGD:7364894 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G GJB2 gap junction protein beta 2 ISO
IAGP
EXP		 ClinVar Annotator: match by term: Deafness
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... RGD:7364799 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB3 gap junction protein beta 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:9843210 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 4:42,892,713...43,030,658
Ensembl chr 4:42,892,713...43,030,658 		JBrowse link
G IGF1 insulin like growth factor 1 ISO RGD PMID:20661454 RGD:8549497 NCBI chr12:102,395,874...102,481,839
Ensembl chr12:102,395,874...102,481,744 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO RGD PMID:12618319 RGD:8662867 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160 		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 chr 1:233,614,106...233,672,514
Ensembl chr 1:233,614,106...233,672,514 		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 chr14:88,180,108...88,326,912
Ensembl chr14:88,180,103...88,326,907 		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 2:26,692,722...26,733,420
Ensembl chr 2:26,692,722...26,733,420 		JBrowse link
G KCNQ1 potassium voltage-gated channel subfamily Q member 1 ISO DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105 		JBrowse link
G LOC106501712 CLCNKA recombination region IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:16,023,929...16,036,205 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220 		JBrowse link
G LRRC51 leucine rich repeat containing 51 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18953341 NCBI chr11:72,080,850...72,096,895
Ensembl chr11:72,080,337...72,096,895 		JBrowse link
G MARVELD2 MARVEL domain containing 2 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 5:69,415,116...69,444,330
Ensembl chr 5:69,415,065...69,444,330 		JBrowse link
G MITF melanocyte inducing transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA EXP CTD Direct Evidence: marker/mechanism CTD PMID:9391883 PMID:12031626 PMID:12037390 PMID:15722487 NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601 		JBrowse link
G MYO7A myosin VIIA ISO
IAGP		 DNA:mutations:cds:multiple (mouse)
ClinVar Annotator: match by term: Deafness
DNA:nonsense mutation:cds
DNA:deletions:exons		 ClinVar
RGD		 PMID:22135276 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... RGD:4892285, RGD:1581470, RGD:8694136 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOF otoferlin ISO
IAGP
EXP		 ClinVar Annotator: match by term: Deafness
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17967520 PMID:30303587 PMID:17055430 RGD:9491387 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G OTOG otogelin IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150 		JBrowse link
G PAX3 paired box 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PCDH15 protocadherin related 15 EXP
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 chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PJVK pejvakin EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness		 CTD
ClinVar		 PMID:17301963 PMID:17329413 PMID:17718875 PMID:19888295 PMID:21696384 More... NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		JBrowse link
G POLR2C RNA polymerase II subunit C IAGP ClinVar Annotator: match by term: Deafness ClinVar NCBI chr16:57,462,679...57,472,009
Ensembl chr16:57,462,660...57,472,009 		JBrowse link
G POLR2F RNA polymerase II, I and III subunit F IAGP ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chr22:37,953,663...38,041,915
Ensembl chr22:37,952,607...38,041,915 		JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP RGD PMID:9298820 PMID:7839145 RGD:1599156, RGD:1599155 NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP RGD PMID:9506947 RGD:1599168 NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273 		JBrowse link
G RET ret proto-oncogene ISO mRNA:increased expression:vestibulocochlear VIII nerve cochlear component RGD PMID:16738479 RGD:2324943 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G SERAC1 serine active site containing 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280 		JBrowse link
G SLC19A2 solute carrier family 19 member 2 IAGP RGD PMID:10391221 RGD:1599325 NCBI chr 1:169,463,909...169,485,970
Ensembl chr 1:169,463,909...169,485,944 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP
ISO
IMP		 DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human)
ClinVar Annotator: match by term: Deafness
human gene in mouse model
DNA:missense mutation:cds:p.L445W (human)
DNA:mutations:multiple (human)		 ClinVar
RGD		 PMID:11317356 PMID:28492532 PMID:29372807 PMID:30303587 PMID:34170635 More... RGD:1599217, RGD:7411670, RGD:7411562, RGD:7411559, RGD:11062194, RGD:1599215 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204 		JBrowse link
G SLC26A5 solute carrier family 26 member 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12719379 NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		JBrowse link
G SMAD4 SMAD family member 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G TMC1 transmembrane channel like 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:11850618 PMID:16199547 PMID:22105175 PMID:28492532 PMID:30303587 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
G TMTC2 transmembrane O-mannosyltransferase targeting cadherins 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27311106 NCBI chr12:82,686,906...83,134,866
Ensembl chr12:82,686,880...83,134,870 		JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556 		JBrowse link
G USH1G USH1 protein network component sans IAGP Usher syndrome, type IG, OMIM:607696
ClinVar Annotator: match by term: Deafness		 ClinVar
RGD		 PMID:25741868 PMID:30303587 PMID:12588794 RGD:1599547 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366 		JBrowse link
G WHRN whirlin IAGP ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473 		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 IAGP 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 6:159,762,045...159,779,112
Ensembl chr 6:159,762,045...159,779,112 		JBrowse link
G AGPAT4 1-acylglycerol-3-phosphate O-acyltransferase 4 IAGP 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 6:161,129,967...161,274,061
Ensembl chr 6:161,129,967...161,274,061 		JBrowse link
G AIRN antisense of IGF2R non-protein coding RNA IAGP 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 6:160,003,291...160,007,664
Ensembl chr 6:160,003,291...160,007,664 		JBrowse link
G DYNLT1 dynein light chain Tctex-type 1 IAGP 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 6:158,636,474...158,644,743
Ensembl chr 6:158,636,474...158,644,743 		JBrowse link
G EZR ezrin IAGP 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 6:158,765,748...158,819,368
Ensembl chr 6:158,765,741...158,819,368 		JBrowse link
G FNDC1 fibronectin type III domain containing 1 IAGP 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 6:159,169,400...159,272,108
Ensembl chr 6:159,169,400...159,272,108 		JBrowse link
G GTF2H5 general transcription factor IIH subunit 5 IAGP 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 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344 		JBrowse link
G IGF2R insulin like growth factor 2 receptor IAGP 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 6:159,969,082...160,111,504
Ensembl chr 6:159,969,082...160,113,507 		JBrowse link
G LINC02901 long intergenic non-protein coding RNA 2901 IAGP 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 6:158,869,814...158,910,353
Ensembl chr 6:158,869,848...158,919,105 		JBrowse link
G LPA lipoprotein(a) IAGP 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 6:160,531,482...160,664,275
Ensembl chr 6:160,531,482...160,664,275 		JBrowse link
G MAP3K4 mitogen-activated protein kinase kinase kinase 4 IAGP 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 6:160,991,769...161,117,380
Ensembl chr 6:160,991,727...161,117,385 		JBrowse link
G MAS1 MAS1 proto-oncogene, G protein-coupled receptor IAGP 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 6:159,888,787...159,917,447
Ensembl chr 6:159,890,988...159,917,447 		JBrowse link
G MRPL18 mitochondrial ribosomal protein L18 IAGP 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 6:159,789,812...159,798,429
Ensembl chr 6:159,789,812...159,798,436 		JBrowse link
G PLG plasminogen IAGP 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 6:160,702,193...160,754,097
Ensembl chr 6:160,702,194...160,754,097 		JBrowse link
G PNLDC1 PARN like ribonuclease domain containing exonuclease 1 IAGP 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 6:159,799,455...159,820,704
Ensembl chr 6:159,800,249...159,820,704 		JBrowse link
G PRKN parkin RBR E3 ubiquitin protein ligase IAGP 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 6:161,347,417...162,727,766
Ensembl chr 6:161,347,417...162,727,775 		JBrowse link
G RSPH3 radial spoke head 3 IAGP 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 6:158,962,980...159,000,202
Ensembl chr 6:158,972,871...159,000,202 		JBrowse link
G SERAC1 serine active site containing 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome
OMIM:614739
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr 6:158,109,519...158,168,262
Ensembl chr 6:158,109,519...158,168,280 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 IAGP 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 6:160,121,815...160,158,718
Ensembl chr 6:160,121,815...160,158,718 		JBrowse link
G SLC22A2 solute carrier family 22 member 2 IAGP 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 6:160,216,755...160,258,821
Ensembl chr 6:160,171,061...160,277,638 		JBrowse link
G SLC22A3 solute carrier family 22 member 3 IAGP 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 6:160,348,378...160,452,577
Ensembl chr 6:160,348,378...160,452,577 		JBrowse link
G SOD2 superoxide dismutase 2 IAGP 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 6:159,669,069...159,762,281
Ensembl chr 6:159,669,069...159,762,529 		JBrowse link
G SYTL3 synaptotagmin like 3 IAGP 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 6:158,644,936...158,764,871
Ensembl chr 6:158,650,014...158,764,876 		JBrowse link
G TAGAP T cell activation RhoGTPase activating protein IAGP 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 6:159,034,481...159,044,991
Ensembl chr 6:159,034,468...159,045,152 		JBrowse link
G TCP1 t-complex 1 IAGP 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 6:159,778,498...159,789,602
Ensembl chr 6:159,778,498...159,789,703 		JBrowse link
G TMEM181 transmembrane protein 181 IAGP 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 6:158,536,640...158,635,429
Ensembl chr 6:158,536,436...158,635,429 		JBrowse link
G TULP4 TUB like protein 4 IAGP 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 6:158,232,195...158,511,828
Ensembl chr 6:158,232,236...158,511,828 		JBrowse link
G WTAP WT1 associated protein IAGP 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 6:159,726,693...159,756,319
Ensembl chr 6:159,725,585...159,756,319 		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 IAGP ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445 		JBrowse link
G MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 IAGP ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G MT-RNR1 mitochondrially encoded 12S rRNA IAGP ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:648...1,601
Ensembl chr MT:648...1,601 		JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY		 CTD
ClinVar		 PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514 		JBrowse link
G TRMU tRNA mitochondrial 2-thiouridylase IAGP
EXP		 ClinVar Annotator: match by term: Aminoglycoside-induced deafness
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of		 OMIM
ClinVar
CTD		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340 		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 IAGP 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 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
G PRPS1 phosphoribosyl pyrophosphate synthetase 1 IAGP
EXP		 ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision
ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		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 IAGP
EXP		 ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1
ClinVar Annotator: match by term: DIAPH3-related condition
ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 More... NCBI chr13:59,665,583...60,163,928
Ensembl chr13:59,665,583...60,163,928 		JBrowse link
G DIAPH3-AS1 DIAPH3 antisense RNA 1 IAGP ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:60,012,718...60,044,357
Ensembl chr13:60,012,734...60,044,357 		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 IAGP OMIM NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		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 IAGP ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar		 PMID:18230648 PMID:20435227 PMID:21391237 PMID:21636032 PMID:23161701 More... NCBI chr 3:14,125,052...14,143,680
Ensembl chr 3:14,125,015...14,143,680 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
OMIM:124480
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		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 IAGP
EXP		 DNA:missense mutations:cds:p.P17T, p.V18P (human)
ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1		 ClinVar
CTD
OMIM
RGD		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr 4:87,608,529...87,616,873
Ensembl chr 4:87,608,529...87,616,873 		JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC121852992 Sharpr-MPRA regulatory region 11309 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:28492532 NCBI chr19:50,230,392...50,230,686 JBrowse link
G MYH14 myosin heavy chain 14 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542 		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
IAGP
ISS
EXP		 p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome, autosomal dominant
ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
OMIM:148210
CTD Direct Evidence: marker/mechanism
p.G45E(mouse)
DNA:mutation:cd:p.D50N(human)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:7364809, RGD:7364889, RGD:7364885, RGD:7364813, RGD:7364811 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		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 IAGP ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss ClinVar PMID:25741868 PMID:33111345 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,668...122,226,062 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G LOC101927521 uncharacterized LOC101927521 IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chr18:21,380,044...21,451,047 JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
G PDE1C phosphodiesterase 1C IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chr 7:31,616,777...32,428,224
Ensembl chr 7:31,751,179...32,428,131 		JBrowse link
G PLS1 plastin 1 IAGP 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 chr 3:142,596,393...142,713,664
Ensembl chr 3:142,596,393...142,713,664 		JBrowse link
G SIX1 SIX homeobox 1 IAGP ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 1
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 10
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: EYA4-Related Disorders		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 More... NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G LOC126859796 MED14-independent group 3 enhancer GRCh37_chr6:133826289-133827488 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 10 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:28798025 PMID:32107406 More... NCBI chr 6:133,505,151...133,506,350 JBrowse link
G TARID TCF21 antisense RNA inducing promoter demethylation IAGP ClinVar Annotator: match by term: EYA4-Related Disorders
ClinVar Annotator: match by term: Deafness, autosomal dominant 10		 ClinVar PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 PMID:17568404 More... NCBI chr 6:133,502,252...133,889,006
Ensembl chr 6:133,502,252...133,892,802 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 11
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3130723 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 More... NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861365 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12		 ClinVar PMID:21520338 PMID:24033266 PMID:25262649 PMID:25741868 PMID:27068579 More... NCBI chr11:121,129,445...121,130,644 JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12		 ClinVar PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 More... NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12
OMIM:601543
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 More... NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 13
OMIM:601868
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:21204229 More... NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC127814297 RBM27-POU4F3 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 15
ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition		 ClinVar PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More... NCBI chr 5:146,203,605...146,341,728 JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 15
ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More... NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112695089 Sharpr-MPRA regulatory region 2056 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 17 ClinVar NCBI chr22:36,387,611...36,388,278 JBrowse link
G LOC126863137 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:36696002-36697201 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 17
ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: MYH9-related condition
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: MYH9-related condition		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr22:36,299,956...36,301,155 JBrowse link
G MYH9 myosin heavy chain 9 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: MYH9-related condition
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration | ClinVar Annotator: match by term: MYH9-related condition
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: MYH9-related condition
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: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: MYH9-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 20
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G LOC130061940 ATAC-STARR-seq lymphoblastoid active region 12964 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 20 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29357087 More... NCBI chr17:81,512,245...81,512,334 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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 21
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 NCBI chr 6:24,804,284...25,042,168
Ensembl chr 6:24,804,282...25,042,170 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 22
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22
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:606346
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130055766 ATAC-STARR-seq lymphoblastoid silent region 5813 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 23 ClinVar NCBI chr14:60,649,394...60,649,633 JBrowse link
G MIR9718 microRNA 9718 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 23 ClinVar PMID:25741868 NCBI chr14:60,648,648...60,648,711 JBrowse link
G SIX1 SIX homeobox 1 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 23
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 25
OMIM:605583
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr12:100,357,074...100,422,055
Ensembl chr12:100,357,074...100,422,055 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISS OMIM:605583 MouseDO NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G REST RE1 silencing transcription factor IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 27
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 NCBI chr 4:56,907,900...56,935,844
Ensembl chr 4:56,907,876...56,966,808 		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 IAGP
EXP		 DNA:nonsense mutation:exon:
ClinVar Annotator: match by term: Deafness, autosomal dominant 28
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1599382 NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726 		JBrowse link
G LOC126860461 CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:102655529-102656728 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 28 ClinVar PMID:12393799 NCBI chr 8:101,643,301...101,644,505 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 IAGP
EXP		 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: KCNQ4-related condition
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A
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: KCNQ4-related condition
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 More... NCBI chr 1:40,783,787...40,840,452
Ensembl chr 1:40,783,787...40,840,452 		JBrowse link
G LOC129930282 ATAC-STARR-seq lymphoblastoid active region 855 IAGP ClinVar Annotator: match by term: KCNQ4-related condition ClinVar PMID:20301388 PMID:25741868 PMID:26036578 PMID:28492532
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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 2b
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:9843210 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 More... NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		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 IAGP 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 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 36
ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition
OMIM:606705
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A1 collagen type XI alpha 1 chain susceptibility IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 More... NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 3a
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB4 gap junction protein beta 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3a ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:27480936 PMID:28492532 NCBI chr13:20,403,669...20,525,857
Ensembl chr13:20,403,666...20,525,873 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,728,731...20,773,961
Ensembl chr13:20,728,731...20,773,961 		JBrowse link
G GJA3 gap junction protein alpha 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,138,255...20,161,565
Ensembl chr13:20,138,255...20,161,052 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 3b
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G IFT88 intraflagellar transport 88 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444 		JBrowse link
G IL17D interleukin 17D IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098 		JBrowse link
G LOC112163647 Sharpr-MPRA regulatory region 6807 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,506,870...20,507,164 JBrowse link
G LOC121466728 Sharpr-MPRA regulatory region 3329 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,534,370...20,534,664 JBrowse link
G LOC124849292 Sharpr-MPRA regulatory region 1468 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,717,550...20,717,844 JBrowse link
G LOC126861703 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:20748586-20749785 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,174,447...20,175,646 JBrowse link
G LOC126861704 BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,379,837...20,381,036 JBrowse link
G LOC126861705 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,419,027...20,420,226 JBrowse link
G LOC130009312 ATAC-STARR-seq lymphoblastoid silent region 5150 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,160,783...20,160,872 JBrowse link
G LOC130009313 ATAC-STARR-seq lymphoblastoid silent region 5151 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,161,033...20,161,112 JBrowse link
G LOC130009314 ATAC-STARR-seq lymphoblastoid silent region 5152 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,161,343...20,161,702 JBrowse link
G LOC130009315 ATAC-STARR-seq lymphoblastoid active region 7417 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,219,572...20,219,751 JBrowse link
G LOC130009316 ATAC-STARR-seq lymphoblastoid active region 7418 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,425,154...20,425,203 JBrowse link
G LOC130009317 ATAC-STARR-seq lymphoblastoid active region 7419 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,425,214...20,425,453 JBrowse link
G LOC130009318 ATAC-STARR-seq lymphoblastoid active region 7420 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,425,886...20,425,945 JBrowse link
G LOC130009319 ATAC-STARR-seq lymphoblastoid active region 7421 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,426,006...20,426,065 JBrowse link
G LOC130009320 ATAC-STARR-seq lymphoblastoid active region 7422 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,476,106...20,476,305 JBrowse link
G LOC130009321 ATAC-STARR-seq lymphoblastoid active region 7423 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,476,376...20,476,425 JBrowse link
G LOC130009322 ATAC-STARR-seq lymphoblastoid silent region 5153 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,525,533...20,526,082 JBrowse link
G LOC130009323 ATAC-STARR-seq lymphoblastoid active region 7424 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,526,263...20,526,372 JBrowse link
G LOC130009324 ATAC-STARR-seq lymphoblastoid active region 7425 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,528,721...20,528,830 JBrowse link
G LOC130009325 ATAC-STARR-seq lymphoblastoid silent region 5154 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,566,857...20,567,266 JBrowse link
G LOC130009326 ATAC-STARR-seq lymphoblastoid silent region 5155 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,703,081...20,703,160 JBrowse link
G LOC130009327 ATAC-STARR-seq lymphoblastoid silent region 5156 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,703,581...20,703,720 JBrowse link
G LOC130009328 ATAC-STARR-seq lymphoblastoid silent region 5157 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,704,011...20,704,520 JBrowse link
G LOC130009329 ATAC-STARR-seq lymphoblastoid active region 7426 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,773,316...20,773,535 JBrowse link
G LOC132090175 Neanderthal introgressed variant-containing enhancer experimental_32461 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,273,378...20,273,547 JBrowse link
G MIR4499 microRNA 4499 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,433,778...20,433,846
Ensembl chr13:20,433,778...20,433,846 		JBrowse link
G XPO4 exportin 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr13:20,777,329...20,902,774
Ensembl chr13:20,777,329...20,903,048 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 40
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:21,258,521...21,303,062
Ensembl chr16:21,238,874...21,303,083 		JBrowse link
G LOC130058620 ATAC-STARR-seq lymphoblastoid active region 10553 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 40 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:21,278,082...21,278,291 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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 41
ClinVar Annotator: match by term: P2RX2-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition
OMIM:608224
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chr12:132,618,776...132,622,388
Ensembl chr12:132,618,776...132,622,388 		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 IAGP
EXP		 DNA:duplication:cds:c.1394_1401dupCACGGCAT(human)
ClinVar Annotator: match by term: Deafness, autosomal dominant 44
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 More... RGD:9685138 NCBI chr 3:191,329,394...191,398,659
Ensembl chr 3:191,329,085...191,398,659 		JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861538 BRD4-independent group 4 enhancer GRCh37_chr12:57440635-57441834 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chr12:57,046,851...57,048,050 JBrowse link
G MYO1A myosin IA IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chr12:57,028,517...57,051,198
Ensembl chr12:57,028,517...57,051,198 		JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISS OMIM:600652 MouseDO NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718 		JBrowse link
G LOC121852992 Sharpr-MPRA regulatory region 11309 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4A ClinVar PMID:28492532 NCBI chr19:50,230,392...50,230,686 JBrowse link
G MYH14 myosin heavy chain 14 IAGP
EXP		 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
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr19:50,203,622...50,310,540
Ensembl chr19:50,188,186...50,310,542 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 4b
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718 		JBrowse link
G CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 4b ClinVar PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,631,573...44,725,217 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 More... NCBI chr 7:24,698,355...24,795,539
Ensembl chr 7:24,698,355...24,757,940 		JBrowse link
G LOC129998098 ATAC-STARR-seq lymphoblastoid active region 25750 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 5 ClinVar PMID:25741868 PMID:28492532
G LOC129998104 ATAC-STARR-seq lymphoblastoid active region 25754 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 5 ClinVar
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MIR96 microRNA 96 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 50
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:14757864 PMID:19363479 NCBI chr 7:129,774,692...129,774,769
Ensembl chr 7:129,774,692...129,774,769 		JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC124292588 Sharpr-MPRA regulatory region 4978 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,204,473...69,204,767 JBrowse link
G LOC130001864 ATAC-STARR-seq lymphoblastoid silent region 19932 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,121,690...69,121,859 JBrowse link
G LOC130001865 ATAC-STARR-seq lymphoblastoid active region 28446 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,155,380...69,155,439 JBrowse link
G LOC130001866 ATAC-STARR-seq lymphoblastoid silent region 19933 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,173,866...69,174,295 JBrowse link
G LOC130001867 ATAC-STARR-seq lymphoblastoid active region 28447 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar NCBI chr 9:69,175,186...69,175,375 JBrowse link
G TJP2 tight junction protein 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar PMID:20602916 NCBI chr 9:69,121,264...69,255,208
Ensembl chr 9:69,121,264...69,274,615 		JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DELEC1 deleted in esophageal cancer 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 9:115,141,818...115,402,644
Ensembl chr 9:114,850,968...115,402,644 		JBrowse link
G LOC126860740 CDK7 strongly-dependent group 2 enhancer GRCh37_chr9:117797665-117798864 IAGP ClinVar Annotator: match by term: TNC-related condition ClinVar PMID:25741868 NCBI chr 9:115,035,386...115,036,585 JBrowse link
G LOC126860741 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr9:117825442-117826641 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition ClinVar PMID:25741868 PMID:28492532 PMID:36597107 NCBI chr 9:115,063,163...115,064,362 JBrowse link
G PAPPA pappalysin 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 9:116,153,791...116,402,321
Ensembl chr 9:116,153,791...116,402,321 		JBrowse link
G TNC tenascin C IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 9:115,019,575...115,118,157
Ensembl chr 9:115,019,575...115,118,207 		JBrowse link
G TNFSF8 TNF superfamily member 8 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 9:114,893,343...114,930,595
Ensembl chr 9:114,893,343...114,930,595 		JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129992166 ATAC-STARR-seq lymphoblastoid silent region 15229 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38		 ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More...
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP		 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8595423 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 64 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:122,203,709...122,208,952
Ensembl chr12:122,203,681...122,208,952 		JBrowse link
G DIABLO diablo IAP-binding mitochondrial protein IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 64
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21722859 PMID:25741868 PMID:28492532 NCBI chr12:122,207,662...122,227,456
Ensembl chr12:122,207,668...122,226,062 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 65 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 65
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		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 IAGP
EXP		 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26197441 NCBI chr 6:109,366,514...109,382,467
Ensembl chr 6:109,366,514...109,382,467 		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 ISS OMIM:616340 MouseDO NCBI chr20:62,228,243...62,236,301
Ensembl chr20:62,231,922...62,296,213 		JBrowse link
G OSBPL2 oxysterol binding protein like 2 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 67
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24033266 PMID:25741868 PMID:25759012 PMID:28492532 NCBI chr20:62,238,521...62,296,183
Ensembl chr20:62,231,922...62,296,213 		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 IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 68		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25816005 PMID:30047143 NCBI chr15:82,834,661...82,986,157
Ensembl chr15:82,836,946...82,986,153 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 7
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227 NCBI chr 1:165,201,867...165,356,715
Ensembl chr 1:165,201,867...165,356,715 		JBrowse link
G LMX1A-AS2 LMX1A antisense RNA 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 7 ClinVar PMID:25741868 PMID:29754270 NCBI chr 1:165,204,047...165,212,923
Ensembl chr 1:165,210,627...165,213,090 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 70
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:25741868 PMID:26196677 PMID:28492532 NCBI chr 3:127,598,411...127,622,436
Ensembl chr 3:127,598,410...127,622,436 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 71 OMIM
ClinVar		 PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 More... NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 72 ClinVar
OMIM		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr 6:31,863,192...31,878,997
Ensembl chr 6:31,863,192...31,879,046 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 73
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73		 ClinVar
OMIM		 PMID:25741868 PMID:26467025 PMID:29309402 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 74 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29860631 NCBI chr 7:31,616,777...32,428,224
Ensembl chr 7:31,751,179...32,428,131 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 75 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31231791 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 76
ClinVar Annotator: match by term: PLS1-related condition
ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chr 3:142,596,393...142,713,664
Ensembl chr 3:142,596,393...142,713,664 		JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar		 PMID:31273342 NCBI chr16:15,949,143...16,143,053
Ensembl chr16:15,949,138...16,143,257 		JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129994526 ATAC-STARR-seq lymphoblastoid silent region 16295 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 78 ClinVar PMID:25741868 PMID:28492532
G SLC12A2 solute carrier family 12 member 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 78 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32294086 PMID:32658972 NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 79 OMIM
ClinVar		 PMID:31972369 NCBI chr 4:82,629,539...82,798,796
Ensembl chr 4:82,629,539...82,798,796 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 80 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29955957 PMID:32585897 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G LOC101927521 uncharacterized LOC101927521 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 80 ClinVar PMID:25741868 PMID:29955957 PMID:32585897 NCBI chr18:21,380,044...21,451,047 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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 81 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29713870 NCBI chr 2:85,354,769...85,391,748
Ensembl chr 2:85,354,394...85,391,752 		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 IAGP ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 82
ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment		 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30535804 NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 83 OMIM
ClinVar		 PMID:25741868 PMID:33268592 NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565 		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 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar
OMIM		 PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr13:112,690,038...112,887,168
Ensembl chr13:112,690,038...112,887,168 		JBrowse link
G LOC130010167 ATAC-STARR-seq lymphoblastoid silent region 5534 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar PMID:35278131 NCBI chr13:112,689,641...112,690,570 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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 85 OMIM
ClinVar		 PMID:25741868 PMID:34059922 NCBI chr 1:21,678,298...21,783,149
Ensembl chr 1:21,678,298...21,783,606 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 86 ClinVar
OMIM		 PMID:32776944 NCBI chr18:214,520...268,047
Ensembl chr18:214,520...268,050 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 87 OMIM
ClinVar		 PMID:33358777 NCBI chr 1:151,291,797...151,327,715
Ensembl chr 1:151,291,797...151,327,715 		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 IAGP OMIM NCBI chr 1:37,713,880...37,765,120
Ensembl chr 1:37,713,880...37,765,133 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 89 ClinVar
OMIM		 PMID:25741868 PMID:33111345 NCBI chr 4:93,828,753...93,830,964
Ensembl chr 4:93,828,753...93,830,964 		JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL049830.3 novel transcript, antisense to COCH IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 9 ClinVar PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808 		JBrowse link
G COCH cochlin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 9
OMIM:601369
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal dominant 90 OMIM
ClinVar		 PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532 		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 IAGP ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP		 ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:28492532 PMID:28951997 PMID:30303587 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G ANKRD36 ankyrin repeat domain 36 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 2:97,113,153...97,264,521
Ensembl chr 2:97,113,153...97,264,521 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISS OMIM:607197 MouseDO NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta IAGP 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 1:54,998,933...55,017,172
Ensembl chr 1:54,998,933...55,017,172 		JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G CABP2 calcium binding protein 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr11:67,518,912...67,523,446
Ensembl chr11:67,518,912...67,524,517 		JBrowse link
G CDH23 cadherin related 23 IAGP DNA:missense mutations:multiple
ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness		 ClinVar
RGD		 PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... RGD:8662281 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CIB2 calcium and integrin binding family member 2 IAGP 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 chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535 		JBrowse link
G CLCNKA chloride voltage-gated channel Ka IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 1:16,022,036...16,034,050
Ensembl chr 1:16,018,875...16,034,050 		JBrowse link
G CLDN14 claudin 14 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569 		JBrowse link
G CLDN14-AS1 CLDN14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 NCBI chr21:36,430,325...36,498,526 JBrowse link
G CLIC5 chloride intracellular channel 5 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 6:45,880,827...46,129,819
Ensembl chr 6:45,880,827...46,080,348 		JBrowse link
G EDNRB endothelin receptor type B IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr13:77,895,481...77,975,527
Ensembl chr13:77,895,481...77,975,529 		JBrowse link
G EDNRB-AS1 EDNRB antisense RNA 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr13:77,818,937...77,908,442
Ensembl chr13:77,779,723...77,844,145 		JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329 		JBrowse link
G ESPN espin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
G ESRRB estrogen related receptor beta IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 NCBI chr14:76,310,777...76,501,837
Ensembl chr14:76,310,712...76,501,837 		JBrowse link
G GIPC3 GIPC PDZ domain containing family member 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr19:3,585,478...3,593,541
Ensembl chr19:3,585,478...3,593,541 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness		 ClinVar PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB3 gap junction protein beta 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:35802133 PMID:37074134 NCBI chr17:46,923,160...46,975,890
Ensembl chr17:46,923,075...46,975,524 		JBrowse link
G GPR156 G protein-coupled receptor 156 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:37814107 NCBI chr 3:120,165,478...120,285,222
Ensembl chr 3:120,164,645...120,285,222 		JBrowse link
G GPSM2 G protein signaling modulator 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chr 1:108,876,985...108,934,545
Ensembl chr 1:108,875,350...108,934,545 		JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20137778 PMID:30303587 NCBI chr 4:42,892,713...43,030,658
Ensembl chr 4:42,892,713...43,030,658 		JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 5:145,857,670...145,931,673
Ensembl chr 5:145,858,521...145,937,126 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 IAGP 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 chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 NCBI chr 6:35,805,352...35,824,070
Ensembl chr 6:35,797,206...35,845,397 		JBrowse link
G LOC106501712 CLCNKA recombination region IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 1:16,023,929...16,036,205 JBrowse link
G LOC123956210 Sharpr-MPRA regulatory region 3291 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 7:107,709,864...107,710,158 JBrowse link
G LOC126861365 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr11:121,129,445...121,130,644 JBrowse link
G LOC127814297 RBM27-POU4F3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 5:146,203,605...146,341,728 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220 		JBrowse link
G LRRC37A2 leucine rich repeat containing 37 member A2 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:35802133 PMID:37074134 NCBI chr17:46,372,792...47,049,128
Ensembl chr17:46,511,508...46,556,910 		JBrowse link
G MARVELD2 MARVEL domain containing 2 IAGP 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 chr 5:69,415,116...69,444,330
Ensembl chr 5:69,415,065...69,444,330 		JBrowse link
G MSRB3 methionine sulfoxide reductase B3 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19650862 PMID:21185009 PMID:30303587 NCBI chr12:65,278,683...65,466,907
Ensembl chr12:65,278,643...65,491,430 		JBrowse link
G MYH9 myosin heavy chain 9 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010 		JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
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 chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB		 ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOA otoancorin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935 		JBrowse link
G OTOF otoferlin ISO
IAGP		 DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive		 ClinVar
RGD		 PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:20301429 More... RGD:9479154 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G OTOG otogelin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150 		JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:28492532 PMID:31253780 NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		JBrowse link
G PJVK pejvakin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
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 chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102 		JBrowse link
G POU4F3 POU class 4 homeobox 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 5:146,338,839...146,341,728
Ensembl chr 5:146,338,839...146,341,728 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness		 ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
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 chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB
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 chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G TMC1 transmembrane channel like 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB		 ClinVar PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
G TMIE transmembrane inner ear IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chr 3:46,693,778...46,710,886
Ensembl chr 3:46,694,528...46,710,886 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
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 chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091 		JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr 2:28,956,518...29,052,230
Ensembl chr 2:28,956,611...29,052,230 		JBrowse link
G TPRN taperin IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20170899 PMID:30303587 NCBI chr 9:137,191,619...137,200,741
Ensembl chr 9:137,191,617...137,204,193 		JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556 		JBrowse link
G USH1C USH1 protein network component harmonin IAGP 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 chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive		 ClinVar PMID:25741868 PMID:30303587 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366 		JBrowse link
G WHRN whirlin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 100 OMIM
ClinVar		 PMID:15538632 PMID:25741868 PMID:29590114 NCBI chr 5:103,120,301...103,212,799
Ensembl chr 5:103,120,149...103,212,799 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 101
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:24619944 PMID:25741868 PMID:28492532 NCBI chr 5:145,857,670...145,931,673
Ensembl chr 5:145,858,521...145,937,126 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 102
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:24033266 PMID:24741995 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 103
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 NCBI chr 6:45,880,827...46,129,819
Ensembl chr 6:45,880,827...46,080,348 		JBrowse link
G DICER1 dicer 1, ribonuclease III IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 103 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G RIPOR2 RHO family interacting cell polarization regulator 2 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 104
ClinVar Annotator: match by term: RIPOR2-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:24,804,284...25,042,168
Ensembl chr 6:24,804,282...25,042,170 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:15,620,134...15,789,388
Ensembl chr12:15,620,134...15,882,329 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar
OMIM		 PMID:25741868 PMID:25741905 PMID:26282398 PMID:28281779 PMID:28492532 More... NCBI chr11:706,231...727,727
Ensembl chr11:694,438...727,727 		JBrowse link
G LOC130005076 ATAC-STARR-seq lymphoblastoid silent region 3016 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar NCBI chr11:720,719...720,978 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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 107 OMIM
ClinVar		 PMID:25741868 PMID:26881968 PMID:28492532 NCBI chr17:75,845,699...75,856,436
Ensembl chr17:75,845,699...75,856,507 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 108 ClinVar
OMIM		 PMID:25741868 PMID:27162350 PMID:28492532 NCBI chr 1:63,774,017...64,181,498
Ensembl chr 1:63,774,017...64,181,498 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 109 ClinVar
OMIM		 PMID:25741868 PMID:29107558 NCBI chr 8:94,641,174...94,707,466
Ensembl chr 8:94,641,074...94,707,466 		JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL049830.3 novel transcript, antisense to COCH IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 110 ClinVar PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808 		JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 110 OMIM
ClinVar		 PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		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 IAGP ClinVar Annotator: match by term: MPZL2-related condition
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 chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 112 ClinVar
OMIM		 PMID:24312468 PMID:25741868 NCBI chr 5:71,455,651...71,578,288
Ensembl chr 5:71,455,651...71,567,820 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 113 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718 		JBrowse link
G CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 113 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,631,573...44,725,217 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 114 OMIM
ClinVar		 PMID:25741868 PMID:30610177 NCBI chr17:19,020,656...19,051,373
Ensembl chr17:19,020,656...19,047,011 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 115 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr17:4,498,881...4,539,035
Ensembl chr17:4,498,881...4,539,035 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 116 OMIM
ClinVar		 PMID:25741868 PMID:30311386 PMID:31175426 PMID:35802133 PMID:36633841 NCBI chr16:3,012,923...3,014,505
Ensembl chr16:3,012,923...3,014,505 		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 IAGP 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 4:17,515,165...17,527,104
Ensembl chr 4:17,515,165...17,527,104 		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 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34626583 NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415 		JBrowse link
G LOC130056998 ATAC-STARR-seq lymphoblastoid silent region 6408 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 ClinVar PMID:34626583 NCBI chr15:45,403,019...45,403,168 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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 12
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of		 OMIM
ClinVar
CTD		 PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 More... NCBI chr 3:10,324,023...10,708,007
Ensembl chr 3:10,324,023...10,708,007 		JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G CDH23 cadherin related 23 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 12
OMIM:601386
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:12075507 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 More... NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:24367894 PMID:25741868 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:19888295 PMID:21917145 PMID:24006325 PMID:24033266 PMID:25741868 More... NCBI chr10:71,805,832...71,806,126 JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G VSIR V-set immunoregulatory receptor IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:25741868 NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 120 OMIM
ClinVar		 PMID:35727972 NCBI chr 5:129,748,094...129,766,732
Ensembl chr 5:129,748,094...129,766,732 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chr 1:228,208,044...228,378,876
Ensembl chr 1:228,208,044...228,378,876 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 121 OMIM
ClinVar		 PMID:37814107 NCBI chr 3:120,165,478...120,285,222
Ensembl chr 3:120,164,645...120,285,222 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 122 OMIM
ClinVar		 PMID:37943620 NCBI chr13:100,603,625...100,675,075
Ensembl chr13:100,603,625...100,675,093 		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 IAGP OMIM NCBI chr16:31,033,095...31,040,168
Ensembl chr16:31,032,889...31,042,975 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 15
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More... NCBI chr19:3,585,478...3,593,541
Ensembl chr19:3,585,478...3,593,541 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chr15:43,628,503...43,648,884
Ensembl chr15:43,628,503...43,668,118 		JBrowse link
G CKMT1A creatine kinase, mitochondrial 1A IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:43,692,786...43,699,222
Ensembl chr15:43,692,886...43,699,222
Ensembl chr15:43,692,886...43,699,222 		JBrowse link
G CKMT1B creatine kinase, mitochondrial 1B IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:43,592,857...43,599,406
Ensembl chr15:43,593,054...43,604,901
Ensembl chr15:43,593,054...43,604,901 		JBrowse link
G FRMD5 FERM domain containing 5 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:43,870,764...44,199,473
Ensembl chr15:43,870,761...44,195,271 		JBrowse link
G LOC130056948 ATAC-STARR-seq lymphoblastoid active region 9316 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chr15:43,638,496...43,638,625 JBrowse link
G LOC130056949 ATAC-STARR-seq lymphoblastoid active region 9317 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chr15:43,638,676...43,639,205 JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:43,746,438...43,773,278
Ensembl chr15:43,746,394...43,773,279 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr15:43,533,475...43,590,253
Ensembl chr15:43,533,462...43,590,208 		JBrowse link
G STRC stereocilin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 16
ClinVar Annotator: match by term: STRC-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition
OMIM:603720
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		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
IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 18A
OMIM:602092
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:8694458 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 18b
ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition
OMIM:614945
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More... NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150 		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 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,403,669...20,525,857
Ensembl chr13:20,403,666...20,525,873 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,728,731...20,773,961
Ensembl chr13:20,728,731...20,773,961 		JBrowse link
G GJA3 gap junction protein alpha 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,138,255...20,161,565
Ensembl chr13:20,138,255...20,161,052 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
OMIM:220290
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6		 ClinVar
MouseDO
CTD
OMIM		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB3 gap junction protein beta 3 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB4 gap junction protein beta 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr 1:34,759,740...34,762,327
Ensembl chr 1:34,759,740...34,762,327 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
OMIM:220290
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G IFT88 intraflagellar transport 88 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444 		JBrowse link
G IL17D interleukin 17D IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098 		JBrowse link
G LOC112163647 Sharpr-MPRA regulatory region 6807 IAGP 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 chr13:20,506,870...20,507,164 JBrowse link
G LOC121466728 Sharpr-MPRA regulatory region 3329 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,534,370...20,534,664 JBrowse link
G LOC124849292 Sharpr-MPRA regulatory region 1468 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,717,550...20,717,844 JBrowse link
G LOC126861703 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:20748586-20749785 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,174,447...20,175,646 JBrowse link
G LOC126861704 BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,379,837...20,381,036 JBrowse link
G LOC126861705 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,419,027...20,420,226 JBrowse link
G LOC130009312 ATAC-STARR-seq lymphoblastoid silent region 5150 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,160,783...20,160,872 JBrowse link
G LOC130009313 ATAC-STARR-seq lymphoblastoid silent region 5151 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,161,033...20,161,112 JBrowse link
G LOC130009314 ATAC-STARR-seq lymphoblastoid silent region 5152 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,161,343...20,161,702 JBrowse link
G LOC130009315 ATAC-STARR-seq lymphoblastoid active region 7417 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,219,572...20,219,751 JBrowse link
G LOC130009316 ATAC-STARR-seq lymphoblastoid active region 7418 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,425,154...20,425,203 JBrowse link
G LOC130009317 ATAC-STARR-seq lymphoblastoid active region 7419 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,425,214...20,425,453 JBrowse link
G LOC130009318 ATAC-STARR-seq lymphoblastoid active region 7420 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,425,886...20,425,945 JBrowse link
G LOC130009319 ATAC-STARR-seq lymphoblastoid active region 7421 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,426,006...20,426,065 JBrowse link
G LOC130009320 ATAC-STARR-seq lymphoblastoid active region 7422 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,476,106...20,476,305 JBrowse link
G LOC130009321 ATAC-STARR-seq lymphoblastoid active region 7423 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,476,376...20,476,425 JBrowse link
G LOC130009322 ATAC-STARR-seq lymphoblastoid silent region 5153 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,525,533...20,526,082 JBrowse link
G LOC130009323 ATAC-STARR-seq lymphoblastoid active region 7424 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,526,263...20,526,372 JBrowse link
G LOC130009324 ATAC-STARR-seq lymphoblastoid active region 7425 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,528,721...20,528,830 JBrowse link
G LOC130009325 ATAC-STARR-seq lymphoblastoid silent region 5154 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,566,857...20,567,266 JBrowse link
G LOC130009326 ATAC-STARR-seq lymphoblastoid silent region 5155 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,703,081...20,703,160 JBrowse link
G LOC130009327 ATAC-STARR-seq lymphoblastoid silent region 5156 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,703,581...20,703,720 JBrowse link
G LOC130009328 ATAC-STARR-seq lymphoblastoid silent region 5157 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,704,011...20,704,520 JBrowse link
G LOC130009329 ATAC-STARR-seq lymphoblastoid active region 7426 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,773,316...20,773,535 JBrowse link
G LOC132090175 Neanderthal introgressed variant-containing enhancer experimental_32461 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,273,378...20,273,547 JBrowse link
G MIR4499 microRNA 4499 IAGP ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,433,778...20,433,846
Ensembl chr13:20,433,778...20,433,846 		JBrowse link
G XPO4 exportin 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr13:20,777,329...20,902,774
Ensembl chr13:20,777,329...20,903,048 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,403,669...20,525,857
Ensembl chr13:20,403,666...20,525,873 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,728,731...20,773,961
Ensembl chr13:20,728,731...20,773,961 		JBrowse link
G GJA3 gap junction protein alpha 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,138,255...20,161,565
Ensembl chr13:20,138,255...20,161,052 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:3 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 1b
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G IFT88 intraflagellar transport 88 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,567,157...20,691,444
Ensembl chr13:20,567,138...20,691,444 		JBrowse link
G IL17D interleukin 17D IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,701,513...20,723,098
Ensembl chr13:20,702,127...20,723,098 		JBrowse link
G LOC112163647 Sharpr-MPRA regulatory region 6807 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,506,870...20,507,164 JBrowse link
G LOC121466728 Sharpr-MPRA regulatory region 3329 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,534,370...20,534,664 JBrowse link
G LOC124849292 Sharpr-MPRA regulatory region 1468 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,717,550...20,717,844 JBrowse link
G LOC126861703 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:20748586-20749785 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,174,447...20,175,646 JBrowse link
G LOC126861704 BRD4-independent group 4 enhancer GRCh37_chr13:20953976-20955175 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,379,837...20,381,036 JBrowse link
G LOC126861705 CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:20993166-20994365 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,419,027...20,420,226 JBrowse link
G LOC130009312 ATAC-STARR-seq lymphoblastoid silent region 5150 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,160,783...20,160,872 JBrowse link
G LOC130009313 ATAC-STARR-seq lymphoblastoid silent region 5151 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,161,033...20,161,112 JBrowse link
G LOC130009314 ATAC-STARR-seq lymphoblastoid silent region 5152 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,161,343...20,161,702 JBrowse link
G LOC130009315 ATAC-STARR-seq lymphoblastoid active region 7417 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,219,572...20,219,751 JBrowse link
G LOC130009316 ATAC-STARR-seq lymphoblastoid active region 7418 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,425,154...20,425,203 JBrowse link
G LOC130009317 ATAC-STARR-seq lymphoblastoid active region 7419 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,425,214...20,425,453 JBrowse link
G LOC130009318 ATAC-STARR-seq lymphoblastoid active region 7420 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,425,886...20,425,945 JBrowse link
G LOC130009319 ATAC-STARR-seq lymphoblastoid active region 7421 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,426,006...20,426,065 JBrowse link
G LOC130009320 ATAC-STARR-seq lymphoblastoid active region 7422 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,476,106...20,476,305 JBrowse link
G LOC130009321 ATAC-STARR-seq lymphoblastoid active region 7423 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,476,376...20,476,425 JBrowse link
G LOC130009322 ATAC-STARR-seq lymphoblastoid silent region 5153 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,525,533...20,526,082 JBrowse link
G LOC130009323 ATAC-STARR-seq lymphoblastoid active region 7424 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,526,263...20,526,372 JBrowse link
G LOC130009324 ATAC-STARR-seq lymphoblastoid active region 7425 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,528,721...20,528,830 JBrowse link
G LOC130009325 ATAC-STARR-seq lymphoblastoid silent region 5154 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,566,857...20,567,266 JBrowse link
G LOC130009326 ATAC-STARR-seq lymphoblastoid silent region 5155 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,703,081...20,703,160 JBrowse link
G LOC130009327 ATAC-STARR-seq lymphoblastoid silent region 5156 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,703,581...20,703,720 JBrowse link
G LOC130009328 ATAC-STARR-seq lymphoblastoid silent region 5157 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,704,011...20,704,520 JBrowse link
G LOC130009329 ATAC-STARR-seq lymphoblastoid active region 7426 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,773,316...20,773,535 JBrowse link
G LOC132090175 Neanderthal introgressed variant-containing enhancer experimental_32461 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,273,378...20,273,547 JBrowse link
G MIR4499 microRNA 4499 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr13:20,433,778...20,433,846
Ensembl chr13:20,433,778...20,433,846 		JBrowse link
G XPO4 exportin 4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr13:20,777,329...20,902,774
Ensembl chr13:20,777,329...20,903,048 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 2
ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
OMIM:600060
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126861365 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 IAGP ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21
ClinVar Annotator: match by term: TECTA-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition		 ClinVar PMID:9949200 PMID:21520338 PMID:24033266 PMID:25262649 PMID:25741868 More... NCBI chr11:121,129,445...121,130,644 JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21
ClinVar Annotator: match by term: Deafness, autosomal recessive 21
ClinVar Annotator: match by term: TECTA-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition		 ClinVar PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 More... NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP
EXP		 ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21
ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 More... NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr16:21,639,550...21,652,608
Ensembl chr16:21,639,550...21,652,608 		JBrowse link
G LOC130058625 ATAC-STARR-seq lymphoblastoid active region 10558 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 NCBI chr16:21,645,546...21,645,725 JBrowse link
G LOC130058626 ATAC-STARR-seq lymphoblastoid active region 10559 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 NCBI chr16:21,658,237...21,658,376 JBrowse link
G LOC130058627 ATAC-STARR-seq lymphoblastoid active region 10560 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 NCBI chr16:21,703,962...21,704,051 JBrowse link
G METTL9 methyltransferase 9, His-X-His N1(pi)-histidine IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr16:21,597,208...21,657,471
Ensembl chr16:21,597,218...21,657,471 		JBrowse link
G NPIPB4 nuclear pore complex interacting protein family member B4 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr16:21,834,582...21,857,756
Ensembl chr16:21,834,582...21,880,827 		JBrowse link
G OTOA otoancorin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 22
ClinVar Annotator: match by term: OTOA-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition
OMIM:607039
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 More... NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935 		JBrowse link
G UQCRC2 ubiquinol-cytochrome c reductase core protein 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr16:21,953,361...21,983,660
Ensembl chr16:21,953,288...21,983,660 		JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 23 ClinVar PMID:11398101 PMID:11487575 PMID:14570705 PMID:25741868 PMID:26166082 More... NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051 		JBrowse link
G PCDH15 protocadherin related 15 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 23
OMIM:609533
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 24
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:25741916 More... NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712 		JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 25
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16380907 PMID:20137774 PMID:20137778 PMID:24033266 PMID:25741868 More... NCBI chr 4:42,892,713...43,030,658
Ensembl chr 4:42,892,713...43,030,658 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 26
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr 4:143,336,876...143,474,565
Ensembl chr 4:143,336,876...143,474,565 		JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126863145 CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:38150829-38152028 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 28
ClinVar Annotator: match by term: TRIOBP-related condition		 ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr22:37,754,822...37,756,021 JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:25741868 PMID:28492532 PMID:32109419 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128 		JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 28
ClinVar Annotator: match by term: TRIOBP-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition
OMIM:609823
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 PMID:24033266 More... NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 29
OMIM:614035
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 More... NCBI chr21:36,460,621...36,576,569
Ensembl chr21:36,460,621...36,576,569 		JBrowse link
G CLDN14-AS1 CLDN14 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 29 ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 More... NCBI chr21:36,430,325...36,498,526 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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028 		JBrowse link
G LOC105371566 uncharacterized LOC105371566 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 ClinVar NCBI chr17:18,107,691...18,117,561 JBrowse link
G LOC130060416 ATAC-STARR-seq lymphoblastoid silent region 8266 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 ClinVar PMID:28492532 NCBI chr17:18,154,079...18,154,128 JBrowse link
G LOC130060418 ATAC-STARR-seq lymphoblastoid active region 11828 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 ClinVar PMID:17546645 PMID:23208854 PMID:25741868 PMID:28492532 PMID:30311386 More... NCBI chr17:18,161,221...18,161,360 JBrowse link
G MYO15A myosin XVA IAGP
ISS
EXP		 ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: MYO15A-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 3
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: 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:600316
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 More... NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 30
ClinVar Annotator: match by term: Deafness, autosomal recessive 30 | ClinVar Annotator: match by term: MYO3A-related condition
OMIM:607101
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:12032315 PMID:17344846 PMID:17576681 PMID:21165622 More... NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 31
ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF
OMIM:607084
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:17576681 More... NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473 		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 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32
OMIM:608653		 CTD
ClinVar
MouseDO
OMIM		 PMID:12634867 PMID:24033266 PMID:25741868 PMID:27259055 PMID:28492532 More... NCBI chr 1:100,345,001...100,520,277
Ensembl chr 1:100,345,001...100,520,277 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 35
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:12529709 PMID:18179891 PMID:22951369 PMID:23767834 PMID:24033266 More... NCBI chr14:76,310,777...76,501,837
Ensembl chr14:76,310,712...76,501,837 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement
ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement		 ClinVar
CTD
OMIM		 PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 More... NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition
OMIM:607821
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11167014 PMID:12687499 PMID:16199547 PMID:17576681 More... NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		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 IAGP
ISS
EXP		 DNA:deletions,mutation:intron,exon:
ClinVar Annotator: match by term: Deafness, autosomal recessive 39
OMIM:608265
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:8548545 NCBI chr 7:81,699,010...81,770,047
Ensembl chr 7:81,699,010...81,770,438 		JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXI1 forkhead box I1 IAGP
EXP		 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: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 More... NCBI chr 5:170,105,897...170,109,737
Ensembl chr 5:170,105,897...170,109,734 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
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: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders
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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 More... NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,160 		JBrowse link
G LOC123956210 Sharpr-MPRA regulatory region 3291 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4		 ClinVar PMID:9618166 PMID:9618167 PMID:10190331 PMID:11405873 PMID:11748854 More... NCBI chr 7:107,709,864...107,710,158 JBrowse link
G LPIN2 lipin 2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:20032092 PMID:20645851 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:2,916,994...3,013,144
Ensembl chr18:2,885,296...3,013,144 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 IAGP
EXP
ISO		 DNA:missense mutations, insertions, snp:multiple (human)
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
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: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: SLC26A4-related disorder
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)
DNA:transition:intron:g.IVS7-2A>G (human)		 ClinVar
CTD
OMIM
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7411543, RGD:7421508, RGD:7411671, RGD:7411556 NCBI chr 7:107,660,828...107,717,809
Ensembl chr 7:107,660,828...107,717,809 		JBrowse link
G SLC26A4-AS1 SLC26A4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
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: SLC26A4-related disorder		 ClinVar PMID:9536098 PMID:11317356 PMID:11748854 PMID:11919333 PMID:12642503 More... NCBI chr 7:107,656,516...107,661,798
Ensembl chr 7:107,650,260...107,662,204 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 42
ClinVar Annotator: match by term: Deafness, autosomal recessive 42 | ClinVar Annotator: match by term: ILDR1-related condition
OMIM:609646
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:15641023 PMID:21255762 PMID:24033266 PMID:25668204 PMID:25741868 More... NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 44
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:15583425 PMID:24033266 PMID:24482543 PMID:24824130 PMID:25741868 More... NCBI chr 7:45,574,140...45,723,116
Ensembl chr 7:45,574,140...45,723,116 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 48
OMIM:609439
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 More... NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535 		JBrowse link
G LOC130057683 ATAC-STARR-seq lymphoblastoid silent region 6705 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 48 ClinVar PMID:25741868 NCBI chr15:78,131,150...78,131,669 JBrowse link
G SH2D7 SH2 domain containing 7 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 48 ClinVar PMID:25741868 NCBI chr15:78,090,122...78,104,362
Ensembl chr15:78,077,808...78,104,370 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 49
ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49
OMIM:610153
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 More... NCBI chr 5:69,415,116...69,444,330
Ensembl chr 5:69,415,065...69,444,330 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 53
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:10677296 PMID:15558753 PMID:16033917 PMID:21204229 PMID:22246659 More... NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 57 ClinVar
OMIM		 PMID:16199547 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 More... NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 59
OMIM:610220
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 More... NCBI chr 2:178,451,378...178,462,102
Ensembl chr 2:178,451,346...178,462,102 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 6
ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: TMIE-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:8593615 PMID:12145746 PMID:16389551 PMID:19438934 PMID:24033266 More... NCBI chr 3:46,693,778...46,710,886
Ensembl chr 3:46,694,528...46,710,886 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 61
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12239568 PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 More... NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 PMID:25788562 PMID:26467025 PMID:28492532 NCBI chr11:72,106,372...72,112,780
Ensembl chr11:72,106,378...72,112,780 		JBrowse link
G LRRC51 leucine rich repeat containing 51 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 NCBI chr11:72,080,850...72,096,895
Ensembl chr11:72,080,337...72,096,895 		JBrowse link
G LRTOMT leucine rich transmembrane and O-methyltransferase domain containing IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 63
OMIM:611451
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:17211611 PMID:17576681 PMID:18794526 PMID:18953341 More... NCBI chr11:72,080,850...72,110,782
Ensembl chr11:72,080,331...72,110,782 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr11:72,002,864...72,080,542
Ensembl chr11:72,002,864...72,080,693 		JBrowse link
G TOMT transmembrane O-methyltransferase IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:9536098 PMID:17211611 PMID:17576681 PMID:18794526 PMID:18953341 More... NCBI chr11:72,105,924...72,109,596
Ensembl chr11:72,105,924...72,109,596 		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 IAGP
EXP		 DNA:missense mutation:cds:p.Q424P (human)
ClinVar Annotator: match by term: Deafness, autosomal recessive 66
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:16199547 PMID:16244493 PMID:23677054 PMID:23746548 PMID:25557784 More... RGD:10412291 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G KAAG1 kidney associated DCDC2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 66 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:24,356,903...24,358,285
Ensembl chr 6:24,356,903...24,358,285 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 67
ClinVar Annotator: match by term: LHFPL5-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 67 | ClinVar Annotator: match by term: LHFPL5-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:25741905 More... NCBI chr 6:35,805,352...35,824,070
Ensembl chr 6:35,797,206...35,845,397 		JBrowse link
G LOC129996260 ATAC-STARR-seq lymphoblastoid silent region 17101 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 67 ClinVar
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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 68
OMIM:610419
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26805784 More... NCBI chr19:10,221,433...10,231,331
Ensembl chr19:10,221,433...10,231,331 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:35802133 PMID:36633841 NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G TMC1 transmembrane channel like 1 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 7
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7
OMIM:600974
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11850618 PMID:16134132 PMID:16199547 PMID:16287143 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129933770 ATAC-STARR-seq lymphoblastoid active region 15785 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 70 ClinVar PMID:25741868 PMID:28492532
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 70
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11080643 PMID:23084290 PMID:23084291 PMID:24088041 PMID:25326635 More... NCBI chr 2:55,634,061...55,693,844
Ensembl chr 2:55,634,061...55,693,863 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 74
OMIM:613718
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chr12:65,278,683...65,466,907
Ensembl chr12:65,278,643...65,491,430 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 76
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 More... NCBI chr19:36,003,307...36,008,813
Ensembl chr19:36,003,307...36,008,813 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 77
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16936105 PMID:17576681 PMID:19732867 More... NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220 		JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130003092 ATAC-STARR-seq lymphoblastoid silent region 20589 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 79 ClinVar PMID:25741868 NCBI chr 9:137,200,343...137,200,412 JBrowse link
G LOC130003093 ATAC-STARR-seq lymphoblastoid silent region 20590 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 79 ClinVar NCBI chr 9:137,200,503...137,200,972 JBrowse link
G TMEM203 transmembrane protein 203 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 79 ClinVar PMID:25741868 NCBI chr 9:137,204,082...137,205,648
Ensembl chr 9:137,204,082...137,205,648 		JBrowse link
G TPRN taperin IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 79
OMIM:613307
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:26969326 More... NCBI chr 9:137,191,619...137,200,741
Ensembl chr 9:137,191,617...137,204,193 		JBrowse link
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMPRSS3 transmembrane serine protease 3 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 8
ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: TMPRSS3-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8
ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: TMPRSS3-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3285355 PMID:9536098 PMID:11137999 PMID:11424922 PMID:11462234 More... NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 84
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20346435 PMID:25741868 PMID:26467025 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 84b
ClinVar Annotator: match by term: Deafness, autosomal recessive 84b | ClinVar Annotator: match by term: OTOGL-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23122586 PMID:23850727 More... NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,880 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 86 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr16:2,429,447...2,458,854
Ensembl chr16:2,429,394...2,458,854 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 86
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:22211675 PMID:22277662 PMID:24033266 PMID:24387994 PMID:24729539 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 88
OMIM:615429
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:24039609 PMID:25741868 PMID:28492532 NCBI chr 2:85,354,769...85,391,748
Ensembl chr 2:85,354,394...85,391,752 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 89
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24033266 More... NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G LOC126862402 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 89 ClinVar PMID:21427441 PMID:25741868 PMID:28492532 PMID:28496994 PMID:28887846 More... NCBI chr16:75,629,470...75,630,669 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 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G CEP135 centrosomal protein 135 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:28866084 NCBI chr 4:55,948,945...56,033,361
Ensembl chr 4:55,948,871...56,033,361 		JBrowse link
G DIAPH1 diaphanous related formin 1 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 5:141,515,021...141,619,000
Ensembl chr 5:141,515,016...141,619,055 		JBrowse link
G H1-4 H1.4 linker histone, cluster member IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:25741868 PMID:28475857 NCBI chr 6:26,156,329...26,157,115
Ensembl chr 6:26,156,329...26,157,115 		JBrowse link
G IGSF6 immunoglobulin superfamily member 6 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr16:21,639,550...21,652,608
Ensembl chr16:21,639,550...21,652,608 		JBrowse link
G LOC112840921 BRD4-independent group 4 enhancer GRCh37_chr2:26685720-26686919 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar Annotator: match by term: OTOF-related condition		 ClinVar PMID:16199547 PMID:18381613 PMID:19250381 PMID:19461658 PMID:20224275 More... NCBI chr 2:26,462,852...26,464,051 JBrowse link
G LOC129933334 ATAC-STARR-seq lymphoblastoid active region 15473 IAGP ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9
ClinVar Annotator: match by term: Deafness, autosomal recessive 9		 ClinVar PMID:18381613 PMID:19250381 PMID:20301429 PMID:22575033 PMID:24033266 More...
G LOC129933336 ATAC-STARR-seq lymphoblastoid silent region 11274 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:28492532
G METTL9 methyltransferase 9, His-X-His N1(pi)-histidine IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr16:21,597,208...21,657,471
Ensembl chr16:21,597,218...21,657,471 		JBrowse link
G MT-ND6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr MT:14,149...14,673
Ensembl chr MT:14,149...14,673 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:26467025 PMID:28492532 PMID:29952689 PMID:30201499 PMID:33884488 More... NCBI chr 3:193,593,208...193,697,811
Ensembl chr 3:193,593,144...193,697,811 		JBrowse link
G OTOA otoancorin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935 		JBrowse link
G OTOF otoferlin IAGP
ISS
EXP
ISO		 DNA:nonsense mutation:cds:p.Y730X (human)
ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9
ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: OTOF-related condition
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:601071
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1
DNA:duplication:cds:c.1981dupG (human)
DNA:missense mutation:cds:p.D1767G (mouse)
DNA:missense mutation:cds:p.R1939Q (human)
DNA:snps, deletion:cds:multiple (human)
associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human)
DNA:missense mutation:cds:p.L1011P (human)
DNA:snp:intron:IVS8-2A>G (human)
DNA:nonsense mutation:cds:p.Q829X (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 More... RGD:9479153, RGD:9585724, RGD:9491826, RGD:9491826, RGD:9491386, RGD:9479161, RGD:9479157, RGD:737640, RGD:9479156 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G PLP1 proteolipid protein 1 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:103,776,506...103,792,619
Ensembl chr  X:103,773,718...103,792,619 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:130,110,623...130,184,870
Ensembl chr  X:130,171,962...130,184,870 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:103,776,324...103,832,257
Ensembl chr  X:103,822,327...103,832,257 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 PMID:28492532 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G SLC17A8 solute carrier family 17 member 8 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:27068579 PMID:28492532 NCBI chr12:100,357,074...100,422,055
Ensembl chr12:100,357,074...100,422,055 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 8:144,358,552...144,361,272
Ensembl chr 8:144,333,957...144,361,286 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:18381613 PMID:25008054 PMID:28492532 PMID:33111345 NCBI chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:18381613 PMID:25008054 PMID:28492532 PMID:33111345 NCBI chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G TTR transthyretin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:14640030 PMID:15123043 PMID:15299640 PMID:15645642 PMID:17338921 More... NCBI chr18:31,591,877...31,598,821
Ensembl chr18:31,557,009...31,598,833 		JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:24706558 PMID:24850488 PMID:24974158 PMID:25168210 PMID:25356970 More... NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848 		JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINB6 serpin family B member 6 IAGP
EXP		 ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:20451170 PMID:24033266 PMID:25741868 More... NCBI chr 6:2,948,159...2,971,793
Ensembl chr 6:2,948,159...2,972,165 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 93
OMIM:614899
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:22981119 PMID:24033266 PMID:25741868 More... NCBI chr11:67,518,912...67,523,446
Ensembl chr11:67,518,912...67,524,517 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 94
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 chr11:78,435,968...78,574,864
Ensembl chr11:78,435,620...78,575,194 		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 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 97
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:12920089 PMID:19318576 PMID:19723643 PMID:20139696 PMID:21774103 More... NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRTAP10-1 keratin associated protein 10-1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:25741868 NCBI chr21:44,538,981...44,540,195
Ensembl chr21:44,538,981...44,540,195 		JBrowse link
G KRTAP10-12 keratin associated protein 10-12 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:25741868 NCBI chr21:44,697,172...44,698,044
Ensembl chr21:44,697,172...44,698,044 		JBrowse link
G KRTAP10-3 keratin associated protein 10-3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:25741868 NCBI chr21:44,557,790...44,558,795
Ensembl chr21:44,557,790...44,558,795 		JBrowse link
G LOC126653398 CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:45928270-45929469 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:22678063 PMID:24033266 PMID:25741868 PMID:27736875 PMID:28492532 More... NCBI chr21:44,508,387...44,509,586 JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP
EXP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 98
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572 		JBrowse link
G TSPEAR-AS1 TSPEAR antisense RNA 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:22678063 PMID:24033266 PMID:25741868 PMID:27736875 PMID:28492532 More... NCBI chr21:44,506,044...44,516,575
Ensembl chr21:44,506,807...44,516,575 		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 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 99 OMIM
ClinVar		 PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr17:34,579,582...34,639,318
Ensembl chr17:34,579,487...34,639,318 		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 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,109,262...80,140,346
Ensembl chr18:80,109,262...80,147,523 		JBrowse link
G ATP9B ATPase phospholipid transporting 9B (putative) IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,069,394...79,378,283
Ensembl chr18:79,069,285...79,378,287 		JBrowse link
G CTDP1 CTD phosphatase subunit 1 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,676,768...79,756,625
Ensembl chr18:79,679,803...79,754,503 		JBrowse link
G GALR1 galanin receptor 1 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:77,249,848...77,277,900
Ensembl chr18:77,249,848...77,277,900 		JBrowse link
G HSBP1L1 heat shock factor binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,964,643...79,970,822
Ensembl chr18:79,964,582...79,970,822 		JBrowse link
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,797,938...79,900,100
Ensembl chr18:79,797,938...79,900,184 		JBrowse link
G LINC00683 long intergenic non-protein coding RNA 683 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,619,777...76,623,559
Ensembl chr18:76,528,652...76,670,111 		JBrowse link
G LINC01879 long intergenic non-protein coding RNA 1879 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,690,029...76,693,636
Ensembl chr18:76,686,058...76,693,636 		JBrowse link
G LOC130062794 ATAC-STARR-seq lymphoblastoid silent region 9585 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... NCBI chr18:79,988,376...79,988,615 JBrowse link
G MBP myelin basic protein IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,978,833...77,133,708
Ensembl chr18:76,978,827...77,133,683 		JBrowse link
G NFATC1 nuclear factor of activated T cells 1 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,395,930...79,529,323
Ensembl chr18:79,395,856...79,529,325 		JBrowse link
G PARD6G par-6 family cell polarity regulator gamma IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,157,232...80,247,514
Ensembl chr18:80,157,232...80,247,514 		JBrowse link
G RBFA ribosome binding factor A IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,034,434...80,050,651
Ensembl chr18:80,034,389...80,050,651 		JBrowse link
G SALL3 spalt like transcription factor 3 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:78,979,818...78,998,969
Ensembl chr18:78,979,818...79,002,677 		JBrowse link
G SLC66A2 solute carrier family 66 member 2 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:79,902,420...79,951,653
Ensembl chr18:79,902,420...79,951,657 		JBrowse link
G TXNL4A thioredoxin like 4A IAGP
EXP		 ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter:		 OMIM
ClinVar
CTD
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:11531484, RGD:155882456 NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949 		JBrowse link
G ZNF236 zinc finger protein 236 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,822,557...76,972,901
Ensembl chr18:76,822,557...76,972,901 		JBrowse link
G ZNF516 zinc finger protein 516 IAGP ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:76,357,682...76,496,419
Ensembl chr18:76,357,682...76,495,242 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		 CTD
ClinVar
OMIM		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		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 LOC130064467 ATAC-STARR-seq lymphoblastoid silent region 10632 IAGP ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness ClinVar PMID:25741868 PMID:29861105 NCBI chr19:40,570,496...40,571,065 JBrowse link
G SPTBN4 spectrin beta, non-erythrocytic 4 IAGP ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28540413 PMID:29861105 PMID:34440880 NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464 		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 IAGP ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy ClinVar
OMIM		 PMID:32500975 NCBI chr11:47,418,775...47,426,439
Ensembl chr11:47,418,769...47,426,473 		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 IAGP 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 chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G LOC126862402 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 IAGP ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy ClinVar PMID:21427441 PMID:28887846 PMID:29615062 PMID:31116475 PMID:33260297 NCBI chr16:75,629,470...75,630,669 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 IAGP ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:28492532 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		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 IAGP ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:101,349,450...101,390,796
Ensembl chr  X:101,349,338...101,390,796 		JBrowse link
G LOC130068494 ATAC-STARR-seq lymphoblastoid active region 29808 IAGP ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar PMID:8841189 PMID:15037720 NCBI chr  X:101,348,664...101,348,713 JBrowse link
G TIMM8A translocase of inner mitochondrial membrane 8A IAGP
EXP		 DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)		 ClinVar
CTD
OMIM
RGD		 PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:101,345,661...101,348,742
Ensembl chr  X:101,345,661...101,348,742 		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 EXP CTD Direct Evidence: therapeutic CTD PMID:36800006 NCBI chr11:215,030...236,931
Ensembl chr11:215,030...236,931 		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 IAGP ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 2:241,227,291...241,315,672
Ensembl chr 2:241,227,264...241,317,061 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496 		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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25665007 NCBI chr 2:53,971,113...54,305,300
Ensembl chr 2:53,970,838...54,305,300 		JBrowse link
G CAMK2A calcium/calmodulin dependent protein kinase II alpha treatment ISO RGD PMID:23558232 RGD:9685025 NCBI chr 5:150,219,491...150,290,130
Ensembl chr 5:150,219,491...150,290,093 		JBrowse link
G CAMK2B calcium/calmodulin dependent protein kinase II beta treatment ISO RGD PMID:23558232 RGD:9685025 NCBI chr 7:44,217,154...44,326,013
Ensembl chr 7:44,210,019...44,334,577 		JBrowse link
G CAT catalase ISO protein:decreased expression:cochlear: RGD PMID:10220857 RGD:9197256 NCBI chr11:34,438,934...34,472,060
Ensembl chr11:34,438,934...34,472,060 		JBrowse link
G COMT catechol-O-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19898482 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G GSK3B glycogen synthase kinase 3 beta treatment ISO RGD PMID:19666099 RGD:10045579 NCBI chr 3:119,821,321...120,094,447
Ensembl chr 3:119,821,321...120,094,994 		JBrowse link
G TPMT thiopurine S-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:19898482 NCBI chr 6:18,128,311...18,155,169
Ensembl chr 6:18,128,311...18,155,077 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome
OMIM:221200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness and myopia		 ClinVar
MouseDO
CTD
OMIM		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chr13:85,792,790...85,799,419
Ensembl chr13:85,792,790...85,806,683 		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 IAGP ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness OMIM
ClinVar		 PMID:33811157 NCBI chr17:70,075,225...70,135,608
Ensembl chr17:70,053,429...70,135,608 		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 IAGP 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 chr22:29,327,680...29,388,570
Ensembl chr22:29,327,680...29,388,583 		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 IAGP
EXP		 ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr13:48,233,206...48,270,357
Ensembl chr13:48,232,612...48,270,357 		JBrowse link
G LOC130009751 ATAC-STARR-seq lymphoblastoid silent region 5331 IAGP ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica ClinVar PMID:25741868 NCBI chr13:48,233,082...48,233,441 JBrowse link
G LOC130009752 ATAC-STARR-seq lymphoblastoid silent region 5332 IAGP ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica ClinVar PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr13:48,233,452...48,233,661 JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPC4 glypican 4 IAGP ClinVar Annotator: match by term: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		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 IAGP ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:22567369 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		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 IAGP ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS
ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness		 ClinVar
OMIM		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24824130 More... NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G LOC126862402 CDK7 strongly-dependent group 2 enhancer GRCh37_chr16:75663368-75664567 IAGP ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS ClinVar PMID:21427441 PMID:28887846 PMID:29615062 PMID:30252186 PMID:31116475 More... NCBI chr16:75,629,470...75,630,669 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 susceptibility IAGP
EXP		 ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 More... NCBI chr19:50,384,323...50,418,018
Ensembl chr19:50,384,204...50,418,018 		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 IDA RGD PMID:22146561 RGD:6906895 NCBI chr 2:113,099,360...113,134,014
Ensembl chr 2:113,099,315...113,134,016 		JBrowse link
G NLRP3 NLR family pyrin domain containing 3 IAGP
EXP		 ClinVar Annotator: match by term: UDA syndrome
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome
ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome | ClinVar Annotator: match by term: Urticaria-deafness-amyloidosis syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr 1:247,416,077...247,448,817
Ensembl chr 1:247,416,156...247,449,108 		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 IAGP ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome		 ClinVar
RGD		 PMID:16532400 RGD:12738199 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G LOC109461476 GDF5 promoter region IAGP ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr20:35,437,929...35,438,683 JBrowse link
G NOG noggin IAGP
EXP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)		 CTD
ClinVar
OMIM
RGD		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
Noninsulin-Dependent Diabetes Mellitus with Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MT-TE mitochondrially encoded tRNA-Glu (GAA/G) IAGP ClinVar Annotator: match by term: Diabetes-deafness syndrome maternally transmitted
ClinVar Annotator: match by term: Diabetes mellitus type II with deafness		 ClinVar PMID:4114165 PMID:7726154 PMID:7726155 PMID:9353617 PMID:10392369 More... NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742 		JBrowse link
G MT-TK mitochondrially encoded tRNA-Lys (AAA/G) IAGP ClinVar Annotator: match by term: Diabetes-deafness syndrome maternally transmitted ClinVar PMID:9571188 PMID:12504210 PMID:31965079 NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364 		JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus type II with deafness		 CTD
ClinVar		 PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304 		JBrowse link
G MT-TL2 mitochondrially encoded tRNA-Leu (CUN) 2 IAGP ClinVar Annotator: match by term: Diabetes-deafness syndrome maternally transmitted ClinVar PMID:25741868 PMID:31965079 NCBI chr MT:12,266...12,336
Ensembl chr MT:12,266...12,336 		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 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:13680526 PMID:19477959 PMID:30311386 NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847 		JBrowse link
G AL049830.3 novel transcript, antisense to COCH IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:9931344 PMID:10400989 PMID:11332404 PMID:14512963 PMID:16151338 More... NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808 		JBrowse link
G ALG10B ALG10 alpha-1,2-glucosyltransferase B ISS MouseDO NCBI chr12:38,316,687...38,329,721
Ensembl chr12:38,316,762...38,329,721 		JBrowse link
G CDH23 cadherin related 23 IAGP 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 chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:24416283 PMID:28492532 PMID:30718709 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25589040 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr19:44,699,151...44,710,718
Ensembl chr19:44,699,151...44,710,718 		JBrowse link
G CEACAM16-AS1 CEACAM16, CEACAM19 and PVR antisense RNA 1 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25589040 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,631,573...44,725,217 		JBrowse link
G CLDN9 claudin 9 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 NCBI chr16:3,012,923...3,014,505
Ensembl chr16:3,012,923...3,014,505 		JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:9931344 PMID:10400989 PMID:11332404 PMID:14512963 PMID:16151338 More... NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25633957 PMID:28492532 NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:28492532 PMID:30311386 NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G CRYL1 crystallin lambda 1 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11807148 PMID:12917317 PMID:14571368 PMID:14681039 PMID:15994881 More... NCBI chr13:20,403,669...20,525,857
Ensembl chr13:20,403,666...20,525,873 		JBrowse link
G DCDC2 doublecortin domain containing 2 IAGP ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:16244493 PMID:25601850 NCBI chr 6:24,171,755...24,383,292
Ensembl chr 6:24,171,755...24,358,059 		JBrowse link
G EYA4 EYA transcriptional coactivator and phosphatase 4 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:30311386 NCBI chr 6:133,240,593...133,532,128
Ensembl chr 6:133,240,514...133,532,128 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness		 ClinVar PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB3 gap junction protein beta 3 IAGP ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G GJB6 gap junction protein beta 6 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Nonsyndromic Deafness		 ClinVar PMID:11807148 PMID:12917317 PMID:14571368 PMID:14681039 PMID:15994881 More... NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G GSDME gasdermin E IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:7427029 PMID:15173223 PMID:17427029 PMID:24033266 PMID:25741868 More... NCBI chr 7:24,698,355...24,795,539
Ensembl chr 7:24,698,355...24,757,940 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:21181198 PMID:23768514 PMID:24824130 PMID:25741868 NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KCNQ4 potassium voltage-gated channel subfamily Q member 4 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8035838 PMID:10025409 PMID:10369879 PMID:18786918 PMID:20832469 More... NCBI chr 1:40,783,787...40,840,452
Ensembl chr 1:40,783,787...40,840,452 		JBrowse link
G KLC2 kinesin light chain 2 ISS MouseDO NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness		 ClinVar PMID:23541342 PMID:28492532 PMID:30311386 PMID:30737337 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:23541342 PMID:28492532 PMID:30311386 PMID:30737337 NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545 		JBrowse link
G LOC112840921 BRD4-independent group 4 enhancer GRCh37_chr2:26685720-26686919 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:20224275 PMID:20301429 PMID:21557232 PMID:24033266 PMID:24814232 More... NCBI chr 2:26,462,852...26,464,051 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:19732867 PMID:21465660 PMID:22975204 PMID:23226338 PMID:24033266 More... NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive ClinVar PMID:25941349 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,196...116,798,377 		JBrowse link
G MITF melanocyte inducing transcription factor IAGP 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 chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		JBrowse link
G MPDZ multiple PDZ domain crumbs cell polarity complex component IAGP ClinVar Annotator: match by term: Nonsyndromic hearing impairment ClinVar PMID:28492532 NCBI chr 9:13,105,707...13,279,692
Ensembl chr 9:13,105,706...13,279,692 		JBrowse link
G MSX1 msh homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936 		JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
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 chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		JBrowse link
G MYO3A myosin IIIA IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr10:25,934,229...26,212,532
Ensembl chr10:25,934,229...26,212,532 		JBrowse link
G MYO6 myosin VI IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness		 ClinVar PMID:12687499 PMID:18348273 PMID:23767834 PMID:24033266 PMID:25080041 More... NCBI chr 6:75,749,239...75,919,537
Ensembl chr 6:75,749,201...75,919,537 		JBrowse link
G MYO7A myosin VIIA IAGP 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 chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOF otoferlin IAGP 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 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		JBrowse link
G OTOG otogelin IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:24033266 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150 		JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28281779 PMID:28492532 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISS MouseDO NCBI chr 5:103,120,301...103,212,799
Ensembl chr 5:103,120,149...103,212,799 		JBrowse link
G STRC stereocilin IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 PMID:29425068 More... NCBI chr15:43,599,563...43,618,800
Ensembl chr15:43,599,563...43,618,800 		JBrowse link
G SYNE4 spectrin repeat containing nuclear envelope family member 4 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 NCBI chr19:36,003,307...36,008,813
Ensembl chr19:36,003,307...36,008,813 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human) RGD PMID:26371875 RGD:11098120 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
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 chr11:121,024,102...121,191,490
Ensembl chr11:121,024,125...121,113,108 		JBrowse link
G TECTA tectorin alpha IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
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 chr11:121,101,243...121,191,490
Ensembl chr11:121,101,243...121,191,490 		JBrowse link
G TGFA transforming growth factor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193 		JBrowse link
G TGFB3 transforming growth factor beta 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TMC1 transmembrane channel like 1 IAGP ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:19187973 PMID:24033266 PMID:24416283 PMID:25741868 PMID:26467025 More... NCBI chr 9:72,521,608...72,838,297
Ensembl chr 9:72,521,608...72,838,297 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11907649 PMID:12920079 PMID:21786053 PMID:24033266 PMID:24526180 More... NCBI chr21:42,371,890...42,396,052
Ensembl chr21:42,371,887...42,396,091 		JBrowse link
G TRIOBP TRIO and F-actin binding protein IAGP ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:24033266 NCBI chr22:37,697,048...37,776,556
Ensembl chr22:37,697,048...37,776,556 		JBrowse link
G USH2A usherin IAGP DNA:missense mutations, frameshift mutation, snp:cds, intron:multiple (human)
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness		 ClinVar
RGD		 PMID:2525289 PMID:10729113 PMID:10909849 PMID:12525556 PMID:15823922 More... RGD:8548458 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
ISS		 ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar
MouseDO		 PMID:16648378 PMID:17492394 PMID:18544103 PMID:20301750 PMID:21917145 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		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 IAGP
EXP		 ClinVar Annotator: match by term: DFNM1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:29408807 NCBI chr 1:171,781,660...171,797,716
Ensembl chr 1:171,781,660...171,814,023 		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 ISS
IAGP		 OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
ClinVar Annotator: match by term: Perrault syndrome		 MouseDO
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,531...6,370,242 		JBrowse link
G ERAL1 Era like 12S mitochondrial rRNA chaperone 1 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr17:28,855,016...28,861,061
Ensembl chr17:28,855,010...28,861,061 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 More... NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545 		JBrowse link
G LOC126862526 BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr17:28,858,093...28,859,292 JBrowse link
G LOC129994460 ATAC-STARR-seq lymphoblastoid active region 22989 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 More...
G LOC130063288 ATAC-STARR-seq lymphoblastoid silent region 9948 IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541340 PMID:24824130 NCBI chr19:6,361,778...6,362,007 JBrowse link
G TWNK twinkle mtDNA helicase IAGP ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 More... NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		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 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:30311386 NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,531...6,370,242 		JBrowse link
G FBN1 fibrillin 1 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721 		JBrowse link
G FSHR follicle stimulating hormone receptor IAGP ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:48,962,157...49,154,515
Ensembl chr 2:48,962,157...49,154,527 		JBrowse link
G HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 IAGP
EXP		 ClinVar Annotator: match by term: HSD17B4-related condition
ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: Perrault syndrome 1
ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199 		JBrowse link
G LOC129994460 ATAC-STARR-seq lymphoblastoid active region 22989 IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 More...
G PRORP protein only RNase P catalytic subunit IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622 		JBrowse link
G PRORP-PSMA6 PRORP-PSMA6 readthrough IAGP ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 NCBI chr14:35,121,839...35,317,471 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 IAGP ClinVar Annotator: match by term: Perrault syndrome 2 ClinVar
OMIM		 PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305 		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 IAGP
EXP		 ClinVar Annotator: match by term: Perrault syndrome 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 More... NCBI chr19:6,361,531...6,370,242
Ensembl chr19:6,361,531...6,370,242 		JBrowse link
G LOC130063288 ATAC-STARR-seq lymphoblastoid silent region 9948 IAGP ClinVar Annotator: match by term: Perrault syndrome 3 ClinVar PMID:23541340 PMID:24824130 PMID:25741868 NCBI chr19:6,361,778...6,362,007 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 IAGP ClinVar Annotator: match by term: Perrault syndrome 4 ClinVar
OMIM		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LARS2-AS1 LARS2 antisense RNA 1 IAGP ClinVar Annotator: match by term: Perrault syndrome 4 ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 More... NCBI chr 3:45,482,695...45,509,545
Ensembl chr 3:45,483,974...45,509,545 		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 IAGP ClinVar Annotator: match by term: Perrault syndrome 5 OMIM
ClinVar		 PMID:25355836 PMID:25741868 PMID:27551684 PMID:27650058 PMID:28178980 More... NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403 		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 IAGP ClinVar Annotator: match by term: Perrault syndrome 6 ClinVar
OMIM		 PMID:25741868 PMID:28449065 NCBI chr17:28,855,016...28,861,061
Ensembl chr17:28,855,010...28,861,061 		JBrowse link
G LOC126862526 BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310 IAGP ClinVar Annotator: match by term: Perrault syndrome 6 ClinVar PMID:25741868 PMID:28449065 NCBI chr17:28,858,093...28,859,292 JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		JBrowse link
G LOC130004038 ATAC-STARR-seq lymphoblastoid silent region 2466 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:71,773,420...71,773,749 JBrowse link
G MT-TS2 mitochondrially encoded tRNA-Ser (AGU/C) 2 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:9792552 PMID:10090882 PMID:32906214 NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265 		JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G USH1C USH1 protein network component harmonin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366 		JBrowse link
G VSIR V-set immunoregulatory receptor IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520 		JBrowse link
G WHRN whirlin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473 		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 IAGP ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr20:44,302,840...44,311,202
Ensembl chr20:44,302,840...44,311,202 		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 IAGP ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness OMIM
ClinVar		 PMID:21131953 PMID:24033266 PMID:25741868 PMID:25741905 PMID:26467025 More... NCBI chr 3:53,494,611...53,813,733
Ensembl chr 3:53,328,963...53,813,733 		JBrowse link
G LOC129936904 ATAC-STARR-seq lymphoblastoid active region 19969 IAGP ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness ClinVar PMID:25741868 PMID:28492532
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 IAGP
EXP		 ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G LOC130058068 ATAC-STARR-seq lymphoblastoid silent region 6885 IAGP ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome ClinVar PMID:9823490 PMID:21129727 PMID:21129728 PMID:25741868 PMID:26467025 More... NCBI chr15:101,251,033...101,251,462 JBrowse link
Tietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107988030 MITF-M promoter region IAGP ClinVar Annotator: match by term: Tietz syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:69,934,398...69,936,727 JBrowse link
G MITF melanocyte inducing transcription factor susceptibility IAGP
ISS
EXP		 ClinVar Annotator: match by term: Tietz syndrome
OMIM:103500
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
MouseDO
CTD		 PMID:2440678 PMID:8589691 PMID:8659547 PMID:9279758 PMID:9536098 More... NCBI chr 3:69,739,464...69,968,332
Ensembl chr 3:69,739,456...69,968,336 		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 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More... NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G AL049830.3 novel transcript, antisense to COCH IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr14:30,876,179...30,889,808
Ensembl chr14:30,876,179...30,889,808 		JBrowse link
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051 		JBrowse link
G ARSG arylsulfatase G IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 2:70,935,900...70,965,431
Ensembl chr 2:70,935,900...70,965,431 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BPNT1 3'(2'), 5'-bisphosphate nucleotidase 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,057,482...220,089,788
Ensembl chr 1:220,057,482...220,090,462 		JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G C1orf115 chromosome 1 open reading frame 115 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,690,363...220,699,153
Ensembl chr 1:220,690,363...220,699,153 		JBrowse link
G CABP4 calcium binding protein 4 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752 		JBrowse link
G CCDC40 coiled-coil domain 40 molecular ruler complex subunit IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr17:80,036,642...80,100,613
Ensembl chr17:80,036,632...80,100,613 		JBrowse link
G CDH23 cadherin related 23 TAS
IAGP		 ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome		 ClinVar
RGD		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... RGD:8547536 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome		 ClinVar PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 PMID:35802133 More... NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G CEP250 centrosomal protein 250 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 NCBI chr20:35,455,165...35,519,280
Ensembl chr20:35,455,164...35,519,280 		JBrowse link
G CIB2 calcium and integrin binding family member 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 More... NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535 		JBrowse link
G CLRN1 clarin 1 TAS
IAGP		 ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD		 PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 More... RGD:8547535 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727 		JBrowse link
G COCH cochlin IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr14:30,874,559...30,895,615
Ensembl chr14:30,874,514...30,895,065 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G CRB1 crumbs cell polarity complex component 1 IAGP ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr 1:197,201,504...197,478,455
Ensembl chr 1:197,268,204...197,478,455 		JBrowse link
G CRX cone-rod homeobox IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr19:47,821,937...47,843,324
Ensembl chr19:47,819,779...47,843,330 		JBrowse link
G DGKQ diacylglycerol kinase theta IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 4:958,887...973,569
Ensembl chr 4:958,887...986,895 		JBrowse link
G DUSP10 dual specificity phosphatase 10 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,701,424...221,742,089
Ensembl chr 1:221,701,424...221,742,089 		JBrowse link
G EPRS1 glutamyl-prolyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,968,600...220,046,505
Ensembl chr 1:219,968,600...220,046,530 		JBrowse link
G ESRRG estrogen related receptor gamma IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:216,503,246...217,137,702
Ensembl chr 1:216,503,246...217,137,755 		JBrowse link
G FMC1 formation of mitochondrial complex V assembly factor 1 homolog IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 7:139,340,472...139,346,328
Ensembl chr 7:139,339,457...139,346,328 		JBrowse link
G FMC1-LUC7L2 FMC1-LUC7L2 readthrough IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 7:139,341,337...139,423,454
Ensembl chr 7:139,341,360...139,422,599 		JBrowse link
G GPATCH2 G-patch domain containing 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,426,992...217,631,090
Ensembl chr 1:217,426,992...217,631,090 		JBrowse link
G GUCA1A guanylate cyclase activator 1A IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chr 6:42,173,364...42,180,056
Ensembl chr 6:42,173,364...42,181,338 		JBrowse link
G GUCA1ANB-GUCA1A GUCA1ANB-GUCA1A readthrough IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chr 6:42,155,406...42,180,056
Ensembl chr 6:42,155,406...42,180,056 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		JBrowse link
G HDAC6 histone deacetylase 6 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr  X:48,801,398...48,824,982
Ensembl chr  X:48,801,377...48,824,982 		JBrowse link
G HHIPL2 HHIP like 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,522,264...222,548,104
Ensembl chr 1:222,522,258...222,548,104 		JBrowse link
G HLX H2.0 like homeobox IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,879,443...220,885,059
Ensembl chr 1:220,879,431...220,885,059 		JBrowse link
G HLX-AS1 HLX antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,832,763...220,880,140
Ensembl chr 1:220,832,763...220,880,140 		JBrowse link
G IARS2 isoleucyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,094,132...220,148,041
Ensembl chr 1:220,094,132...220,148,041 		JBrowse link
G LINC00210 long intergenic non-protein coding RNA 210 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,892,900...217,920,804
Ensembl chr 1:217,892,900...217,920,804 		JBrowse link
G LINC01352 long intergenic non-protein coding RNA 1352 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,829,255...220,832,429
Ensembl chr 1:220,829,255...220,832,429 		JBrowse link
G LINC01653 long intergenic non-protein coding RNA 1653 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,043,505...218,059,140
Ensembl chr 1:218,043,505...218,059,140 		JBrowse link
G LINC01655 long intergenic non-protein coding RNA 1655 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,827,666...221,840,666
Ensembl chr 1:221,819,842...221,840,717 		JBrowse link
G LINC01710 long intergenic non-protein coding RNA 1710 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,912,757...218,918,511
Ensembl chr 1:218,912,757...218,918,714 		JBrowse link
G LINC02257 long intergenic non-protein coding RNA 2257 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,913,645...221,978,520
Ensembl chr 1:221,880,981...221,978,523 		JBrowse link
G LINC02474 long intergenic non-protein coding RNA 2474 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,966,410...221,984,964
Ensembl chr 1:221,966,341...221,984,964 		JBrowse link
G LINC02779 long intergenic non-protein coding RNA 2779 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,483,165...220,487,558
Ensembl chr 1:220,485,104...220,487,558 		JBrowse link
G LINC02817 long intergenic non-protein coding RNA 2817 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,329,928...221,336,296
Ensembl chr 1:221,330,080...221,336,489 		JBrowse link
G LINC02869 long intergenic non-protein coding RNA 2869 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,510,095...218,525,978
Ensembl chr 1:218,459,265...218,525,978 		JBrowse link
G LOC107325941 1q41 HERV-mediated proximal recombination region IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:28041643 NCBI chr 1:221,973,078...221,978,506 JBrowse link
G LOC110121042 VISTA enhancer hs1257 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,034,090...218,035,156 JBrowse link
G LOC111429604 OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:221888831-221889360 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,715,489...221,716,018 JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome		 ClinVar PMID:11138009 PMID:16199547 PMID:21940737 PMID:24033266 PMID:25741868 More... NCBI chr10:71,805,832...71,806,126 JBrowse link
G LOC120908907 Sharpr-MPRA regulatory region 1545 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,048,367...217,048,661 JBrowse link
G LOC120908908 Sharpr-MPRA regulatory region 8131 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,459,179...218,460,221 JBrowse link
G LOC120908909 Sharpr-MPRA regulatory region 297 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,661,087...219,661,381 JBrowse link
G LOC120908910 Sharpr-MPRA regulatory region 12019 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,769,127...220,769,421 JBrowse link
G LOC121725074 Sharpr-MPRA regulatory region 9893 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,928,587...219,928,881 JBrowse link
G LOC122152296 OCT4-NANOG hESC enhancer GRCh37_chr1:216419825-216420431 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:10729113 PMID:10909849 PMID:15241801 PMID:16098008 PMID:16199547 More... NCBI chr 1:216,246,483...216,247,089 JBrowse link
G LOC122152297 Sharpr-MPRA regulatory region 11696 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,134,607...217,134,901 JBrowse link
G LOC122152298 Sharpr-MPRA regulatory region 1921 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,453,727...217,454,021 JBrowse link
G LOC122152299 Sharpr-MPRA regulatory region 7160 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,554,847...217,555,141 JBrowse link
G LOC122152300 Sharpr-MPRA regulatory region 6480 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,674,327...218,674,621 JBrowse link
G LOC122152301 Sharpr-MPRA regulatory region 2527 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,330,747...219,331,041 JBrowse link
G LOC122152302 Sharpr-MPRA regulatory region 1437 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,516,027...220,516,321 JBrowse link
G LOC122152303 Sharpr-MPRA regulatory region 4850 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,634,627...221,634,921 JBrowse link
G LOC126806009 MED14-independent group 3 enhancer GRCh37_chr1:216230868-216232067 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 NCBI chr 1:216,057,526...216,058,725 JBrowse link
G LOC126806010 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:217833249-217834448 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,659,907...217,661,106 JBrowse link
G LOC126806011 MED14-independent group 3 enhancer GRCh37_chr1:218774035-218775234 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,600,693...218,601,892 JBrowse link
G LOC126806012 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:219615440-219616639 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,442,098...219,443,297 JBrowse link
G LOC126806013 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:219674825-219676024 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,501,483...219,502,682 JBrowse link
G LOC126806014 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:219883505-219884704 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,710,163...219,711,362 JBrowse link
G LOC126806015 MED14-independent group 3 enhancer GRCh37_chr1:220440608-220441807 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,267,266...220,268,465 JBrowse link
G LOC126806016 MED14-independent group 3 enhancer GRCh37_chr1:220509233-220510432 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,335,891...220,337,090 JBrowse link
G LOC126806017 BRD4-independent group 4 enhancer GRCh37_chr1:220869747-220870946 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,696,405...220,697,604 JBrowse link
G LOC126806018 BRD4-independent group 4 enhancer GRCh37_chr1:220986059-220987258 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,812,717...220,813,916 JBrowse link
G LOC126806019 MED14-independent group 3 enhancer GRCh37_chr1:221508768-221509967 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,335,426...221,336,625 JBrowse link
G LOC126806020 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:221613046-221614245 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,439,704...221,440,903 JBrowse link
G LOC126806021 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:221887070-221888269 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,713,728...221,714,927 JBrowse link
G LOC126806022 P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:222012693-222013892 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:221,839,351...221,840,550 JBrowse link
G LOC126806023 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:222340292-222341491 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,166,950...222,168,149 JBrowse link
G LOC126806024 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:222437375-222438574 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,264,033...222,265,232 JBrowse link
G LOC126806025 BRD4-independent group 4 enhancer GRCh37_chr1:222483844-222485043 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,310,502...222,311,701 JBrowse link
G LOC126806529 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:223084735-223085934 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:222,220,016...222,221,215 JBrowse link
G LOC129388750 MPRA-validated peak697 silencer IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,089,394...217,089,594 JBrowse link
G LOC129388751 MPRA-validated peak701 silencer IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,066,413...219,066,613 JBrowse link
G LOC129388752 MPRA-validated peak704 silencer IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,835,413...219,835,613 JBrowse link
G LOC129388753 MPRA-validated peak705 silencer IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,154,264...220,154,464 JBrowse link
G LOC129388754 MPRA-validated peak706 silencer IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,249,573...220,249,773 JBrowse link
G LOC129388755 MPRA-validated peak711 silencer IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,098,774...222,098,974 JBrowse link
G LOC129388756 MPRA-validated peak714 silencer IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,277,794...222,277,994 JBrowse link
G LOC129932505 ATAC-STARR-seq lymphoblastoid silent region 1817 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932506 ATAC-STARR-seq lymphoblastoid active region 2536 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932507 ATAC-STARR-seq lymphoblastoid silent region 1818 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932508 ATAC-STARR-seq lymphoblastoid active region 2537 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932509 ATAC-STARR-seq lymphoblastoid active region 2538 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932510 ATAC-STARR-seq lymphoblastoid active region 2539 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932511 ATAC-STARR-seq lymphoblastoid active region 2540 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932512 ATAC-STARR-seq lymphoblastoid silent region 1819 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932513 ATAC-STARR-seq lymphoblastoid active region 2541 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932514 ATAC-STARR-seq lymphoblastoid silent region 1820 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932515 ATAC-STARR-seq lymphoblastoid active region 2542 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932516 ATAC-STARR-seq lymphoblastoid active region 2543 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932517 ATAC-STARR-seq lymphoblastoid active region 2544 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932518 ATAC-STARR-seq lymphoblastoid active region 2545 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932519 ATAC-STARR-seq lymphoblastoid active region 2546 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932520 ATAC-STARR-seq lymphoblastoid silent region 1821 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932521 ATAC-STARR-seq lymphoblastoid active region 2547 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932522 ATAC-STARR-seq lymphoblastoid active region 2549 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932523 ATAC-STARR-seq lymphoblastoid active region 2550 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932524 ATAC-STARR-seq lymphoblastoid active region 2551 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932525 ATAC-STARR-seq lymphoblastoid active region 2552 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932526 ATAC-STARR-seq lymphoblastoid active region 2553 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932527 ATAC-STARR-seq lymphoblastoid active region 2554 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932528 ATAC-STARR-seq lymphoblastoid silent region 1822 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932529 ATAC-STARR-seq lymphoblastoid silent region 1823 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:28041643
G LOC129932530 ATAC-STARR-seq lymphoblastoid silent region 1824 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932531 ATAC-STARR-seq lymphoblastoid active region 2555 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932532 ATAC-STARR-seq lymphoblastoid active region 2556 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932533 ATAC-STARR-seq lymphoblastoid active region 2557 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932534 ATAC-STARR-seq lymphoblastoid silent region 1825 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:28041643
G LOC129932535 ATAC-STARR-seq lymphoblastoid silent region 1826 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932536 ATAC-STARR-seq lymphoblastoid silent region 1827 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932537 ATAC-STARR-seq lymphoblastoid active region 2558 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932538 ATAC-STARR-seq lymphoblastoid silent region 1828 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932539 ATAC-STARR-seq lymphoblastoid silent region 1829 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932540 ATAC-STARR-seq lymphoblastoid active region 2559 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932541 ATAC-STARR-seq lymphoblastoid active region 2560 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932542 ATAC-STARR-seq lymphoblastoid active region 2561 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932543 ATAC-STARR-seq lymphoblastoid active region 2562 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932544 ATAC-STARR-seq lymphoblastoid active region 2563 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932545 ATAC-STARR-seq lymphoblastoid silent region 1830 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932546 ATAC-STARR-seq lymphoblastoid active region 2566 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932547 ATAC-STARR-seq lymphoblastoid active region 2567 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932548 ATAC-STARR-seq lymphoblastoid active region 2568 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932549 ATAC-STARR-seq lymphoblastoid active region 2569 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932550 ATAC-STARR-seq lymphoblastoid active region 2570 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932551 ATAC-STARR-seq lymphoblastoid active region 2573 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932552 ATAC-STARR-seq lymphoblastoid active region 2574 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932553 ATAC-STARR-seq lymphoblastoid active region 2575 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932554 ATAC-STARR-seq lymphoblastoid silent region 1832 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129932555 ATAC-STARR-seq lymphoblastoid active region 2576 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643
G LOC129991967 ATAC-STARR-seq lymphoblastoid silent region 15114 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868
G LOC132088648 Neanderthal introgressed variant-containing enhancer experimental_4209 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:216,249,415...216,249,584 JBrowse link
G LOC132088649 Neanderthal introgressed variant-containing enhancer experimental_4286 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:216,618,759...216,618,928 JBrowse link
G LOC132088650 Neanderthal introgressed variant-containing enhancer experimental_4347 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:216,659,375...216,659,544 JBrowse link
G LOC132088651 Neanderthal introgressed variant-containing enhancer experimental_4384 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:216,681,028...216,681,197 JBrowse link
G LOC132088652 Neanderthal introgressed variant-containing enhancer experimental_4410 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:216,937,472...216,937,641 JBrowse link
G LOC132088653 Neanderthal introgressed variant-containing enhancer experimental_4481 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:216,997,305...216,997,474 JBrowse link
G LOC132088654 Neanderthal introgressed variant-containing enhancer experimental_4814 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,772,078...219,772,247 JBrowse link
G LOC132088656 Neanderthal introgressed variant-containing enhancer experimental_4879 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,016,264...220,016,433 JBrowse link
G LOC132088657 Neanderthal introgressed variant-containing enhancer experimental_4904 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,059,792...220,059,961 JBrowse link
G LOC132088658 Neanderthal introgressed variant-containing enhancer experimental_4917 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,114,673...220,114,842 JBrowse link
G LOC132088659 Neanderthal introgressed variant-containing enhancer experimental_5024 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,154,121...222,154,290 JBrowse link
G LOC132088660 Neanderthal introgressed variant-containing enhancer experimental_5116 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,303,493...222,303,662 JBrowse link
G LOC132088661 Neanderthal introgressed variant-containing enhancer experimental_5126 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,326,089...222,326,258 JBrowse link
G LUC7L2 LUC7 like 2, pre-mRNA splicing factor IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 7:139,340,472...139,423,454
Ensembl chr 7:139,340,359...139,423,457 		JBrowse link
G LYPLAL1 lysophospholipase like 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,173,878...219,445,496
Ensembl chr 1:219,173,869...219,212,865 		JBrowse link
G LYPLAL1-AS1 LYPLAL1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,435,158...219,557,324
Ensembl chr 1:219,409,039...219,459,369 		JBrowse link
G LYPLAL1-DT LYPLAL1 divergent transcript IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,080,973...219,173,788
Ensembl chr 1:218,976,672...219,173,961 		JBrowse link
G MARK1 microtubule affinity regulating kinase 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,528,136...220,664,461
Ensembl chr 1:220,528,136...220,664,461 		JBrowse link
G MIR194-1 microRNA 194-1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,118,157...220,118,241
Ensembl chr 1:220,118,157...220,118,241 		JBrowse link
G MIR215 microRNA 215 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,117,853...220,117,962
Ensembl chr 1:220,117,853...220,117,962 		JBrowse link
G MIR548F1 microRNA 548f-1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr10:54,607,874...54,607,957
Ensembl chr10:54,607,874...54,607,957 		JBrowse link
G MIR664A microRNA 664a IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,200,538...220,200,619
Ensembl chr 1:220,200,538...220,200,619 		JBrowse link
G MTARC1 mitochondrial amidoxime reducing component 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,786,913...220,819,659
Ensembl chr 1:220,786,352...220,819,659 		JBrowse link
G MTARC2 mitochondrial amidoxime reducing component 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,748,322...220,784,815
Ensembl chr 1:220,748,225...220,784,815 		JBrowse link
G MYO7A myosin VIIA TAS
IAGP
EXP		 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... RGD:8547536 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G OTOA otoancorin IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr16:21,663,968...21,760,729
Ensembl chr16:21,663,968...21,761,935 		JBrowse link
G PAX3 paired box 3 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PCDH15 protocadherin related 15 TAS
IAGP
EXP		 ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... RGD:8547536 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PDE6A phosphodiesterase 6A IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chr 5:149,857,953...149,944,793
Ensembl chr 5:149,857,953...149,944,793 		JBrowse link
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		JBrowse link
G PROM1 prominin 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 4:15,968,228...16,084,023
Ensembl chr 4:15,963,076...16,084,378 		JBrowse link
G PRPH2 peripherin 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr 6:42,696,598...42,722,597
Ensembl chr 6:42,696,598...42,722,597 		JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness		 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529 		JBrowse link
G RRP15 ribosomal RNA processing 15 homolog IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,285,293...218,337,983
Ensembl chr 1:218,285,293...218,337,983 		JBrowse link
G SERPINB6 serpin family B member 6 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 6:2,948,159...2,971,793
Ensembl chr 6:2,948,159...2,972,165 		JBrowse link
G SLC30A10 solute carrier family 30 member 10 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,910,445...219,959,098
Ensembl chr 1:219,685,427...219,959,018 		JBrowse link
G SNORA36B small nucleolar RNA, H/ACA box 36B IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:220,200,546...220,200,676
Ensembl chr 1:220,200,546...220,200,676 		JBrowse link
G SPATA17 spermatogenesis associated 17 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,631,344...217,871,696
Ensembl chr 1:217,631,324...217,871,696 		JBrowse link
G SPATA17-AS1 SPATA17 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:217,781,198...217,785,120
Ensembl chr 1:217,781,198...217,785,120 		JBrowse link
G TAF1A TATA-box binding protein associated factor, RNA polymerase I subunit A IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,554,105...222,589,933
Ensembl chr 1:222,557,902...222,589,933 		JBrowse link
G TAF1A-AS1 TAF1A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,589,920...222,592,633
Ensembl chr 1:222,589,825...222,593,843 		JBrowse link
G TGFB2 transforming growth factor beta 2 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619 		JBrowse link
G TGFB2-AS1 TGFB2 antisense RNA 1 (head to head) IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,344,196...218,345,678
Ensembl chr 1:218,344,190...218,346,036 		JBrowse link
G TGFB2-OT1 TGFB2 overlapping transcript 1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:218,442,626...218,443,995
Ensembl chr 1:218,442,626...218,443,996 		JBrowse link
G TRT-TGT2-1 tRNA-Thr (anticodon TGT) 2-1 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:222,465,005...222,465,077 JBrowse link
G USH1C USH1 protein network component harmonin treatment TAS
IAGP
IMP
ISO		 ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome
DNA:mutations:cds:		 ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8547536, RGD:8695937, RGD:8695939, RGD:8694458, RGD:8694457 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G USH1G USH1 protein network component sans TAS
IAGP		 ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:20212494 RGD:8547536 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		JBrowse link
G USH2A usherin susceptibility TAS
IAGP		 ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
DNA:snps, insertion:exon, intron:multiple (human)		 ClinVar
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... RGD:8547535, RGD:8547956 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP 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 PMID:10729113 PMID:10909849 PMID:15325563 PMID:16963483 PMID:18641288 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366 		JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Usher syndrome		 ClinVar PMID:10729113 PMID:10909849 PMID:16199547 PMID:18273898 PMID:18641288 More... NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917 		JBrowse link
G WHRN whirlin IAGP 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 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473 		JBrowse link
G ZC3H11B zinc finger CCCH-type containing 11B IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:219,608,012...219,613,105
Ensembl chr 1:219,608,012...219,613,105 		JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 IAGP ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr11:66,520,625...66,546,048
Ensembl chr11:66,520,637...66,546,235 		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 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051 		JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:16199547 PMID:18429043 More... NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G CIB2 calcium and integrin binding family member 2 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535 		JBrowse link
G ESPN espin IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11138009 PMID:16199547 PMID:21940737 PMID:24033266 PMID:25741868 More... NCBI chr10:71,805,832...71,806,126 JBrowse link
G MYO7A myosin VIIA IAGP
ISS		 DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
OMIM:276900		 ClinVar
MouseDO
RGD		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... RGD:8694152 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G USH1C USH1 protein network component harmonin onset IAGP DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
ClinVar Annotator: match by term: Usher syndrome type 1
DNA:mutation:cds: c.216G>A(human)
DNA:deletion:exon:c.1220delG(human)		 ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695918, RGD:8695921, RGD:8695919 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26927203 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366 		JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G CDH23 cadherin related 23 IAGP 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 Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,805,832...71,806,126 JBrowse link
G MYO7A myosin VIIA treatment IAGP
EXP
ISO
IDA		 DNA:mutations: :multiple
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
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation		 ClinVar
CTD
OMIM
RGD		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... RGD:8694135, RGD:1581470, RGD:8694151, RGD:8694151, RGD:8694137 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G PCDH15 protocadherin related 15 IAGP 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 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G USH1C USH1 protein network component harmonin EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness		 CTD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		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 IAGP
ISS
EXP		 DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)
ClinVar Annotator: match by term: Usher syndrome type 1C
OMIM:276904
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:1600453 NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:25741868 NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051 		JBrowse link
G C10orf105 chromosome 10 open reading frame 105 IAGP ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D		 ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chr10:71,711,701...71,737,850
Ensembl chr10:71,711,701...71,737,824 		JBrowse link
G CDH23 cadherin related 23 ISO
IAGP
ISS
EXP		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
OMIM:601067
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... RGD:8662279 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D		 ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:21940737 PMID:24033266 More... NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID		 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:71,805,832...71,806,126 JBrowse link
G PCDH15 protocadherin related 15 IAGP
EXP		 ClinVar Annotator: match by term: Usher syndrome type 1D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:71,816,298...71,851,251
Ensembl chr10:71,816,298...71,851,251 		JBrowse link
G VSIR V-set immunoregulatory receptor IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr10:71,747,556...71,773,520
Ensembl chr10:71,747,556...71,773,520 		JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL353784.1 novel transcript, antisense to PCDH15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1F ClinVar PMID:11398101 PMID:11487575 PMID:14570705 PMID:24033266 PMID:25741868 More... NCBI chr10:54,486,230...54,656,051
Ensembl chr10:54,486,230...54,656,051 		JBrowse link
G PCDH15 protocadherin related 15 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Usher syndrome type 1F
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F
OMIM:602083
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130061627 ATAC-STARR-seq lymphoblastoid active region 12722 IAGP ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:12588794 PMID:22219650 PMID:28492532 PMID:28944237 NCBI chr17:74,919,520...74,919,569 JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		JBrowse link
G USH1G USH1 protein network component sans IAGP
ISS
EXP		 ClinVar Annotator: match by term: USH1G-related condition | ClinVar Annotator: match by term: Usher syndrome type 1G
OMIM:606943
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USH1G-Related Disorders		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		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 IAGP
EXP		 ClinVar Annotator: match by term: Usher syndrome type 1J
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 More... NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535 		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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:6,424,776...6,461,370
Ensembl chr 1:6,424,776...6,461,367 		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 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 More... NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr10:71,805,832...71,806,126 JBrowse link
G LOC122152296 OCT4-NANOG hESC enhancer GRCh37_chr1:216419825-216420431 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:21686329 PMID:24938718 More... NCBI chr 1:216,246,483...216,247,089 JBrowse link
G MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241 		JBrowse link
G USH1C USH1 protein network component harmonin IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 More... NCBI chr11:17,493,900...17,544,416
Ensembl chr11:17,493,895...17,544,416 		JBrowse link
G USH2A usherin susceptibility IAGP DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:mutations: :multiple
DNA:snp:intron:c.7595-2144A>G (human)
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human)		 ClinVar
RGD		 PMID:2564938 PMID:9536098 PMID:10729113 PMID:10738000 PMID:10909849 More... RGD:8547952, RGD:8694137, RGD:8547985, RGD:8547965, RGD:8547962 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366 		JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:9536098 PMID:10729113 PMID:10909849 PMID:16199547 PMID:17576681 More... NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917 		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 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G CDH23 cadherin related 23 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G KCTD3 potassium channel tetramerization domain containing 3 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr 1:215,567,304...215,621,807
Ensembl chr 1:215,567,304...215,621,807 		JBrowse link
G LOC122152296 OCT4-NANOG hESC enhancer GRCh37_chr1:216419825-216420431 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A		 ClinVar PMID:10729113 PMID:10909849 PMID:15241801 PMID:16098008 PMID:16199547 More... NCBI chr 1:216,246,483...216,247,089 JBrowse link
G LOC126806009 MED14-independent group 3 enhancer GRCh37_chr1:216230868-216232067 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chr 1:216,057,526...216,058,725 JBrowse link
G LOC132088648 Neanderthal introgressed variant-containing enhancer experimental_4209 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chr 1:216,249,415...216,249,584 JBrowse link
G PDZD7 PDZ domain containing 7 IAGP
EXP		 ClinVar Annotator: match by term: Usher syndrome type 2A
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA		 OMIM
ClinVar
CTD		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		JBrowse link
G SFTPC surfactant protein C IAGP ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chr 8:22,157,383...22,164,479
Ensembl chr 8:22,156,913...22,164,479 		JBrowse link
G USH2A usherin susceptibility IAGP
ISS
EXP		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
OMIM:276901
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... RGD:8547961, RGD:8547987 NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		JBrowse link
G USH2A-AS1 USH2A antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A		 ClinVar PMID:9536098 PMID:9624053 PMID:10729113 PMID:10909849 PMID:11311042 More... NCBI chr 1:216,193,722...216,238,035
Ensembl chr 1:216,194,051...216,204,366 		JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A		 ClinVar PMID:9536098 PMID:10729113 PMID:10909849 PMID:16199547 PMID:17085681 More... NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
ClinVar Annotator: match by term: Usher syndrome type 2C
ClinVar Annotator: match by term: ADGRV1-related condition | ClinVar Annotator: match by term: Usher syndrome type 2C
OMIM:605472
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G CNKSR1 connector enhancer of kinase suppressor of Ras 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:25741868 NCBI chr 1:26,177,491...26,189,884
Ensembl chr 1:26,177,484...26,189,884 		JBrowse link
G CRYGC crystallin gamma C IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:208,128,137...208,129,828
Ensembl chr 2:208,128,137...208,129,828 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:21900877 PMID:25741868 PMID:28492532 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G LOC100507443 uncharacterized LOC100507443 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:208,119,129...208,156,762 JBrowse link
G LOC123497934 Sharpr-MPRA regulatory region 3426 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:19357116 NCBI chr 5:90,983,092...90,983,386 JBrowse link
G LOC128772267 melanoma risk locus-associated MPRA allelic enhancer 5:90264394 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:19357116 NCBI chr 5:90,968,505...90,968,649 JBrowse link
G LOC128772268 melanoma risk locus-associated MPRA allelic enhancer 5:90266068 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:19357116 NCBI chr 5:90,970,179...90,970,323 JBrowse link
G LOC128772269 melanoma risk locus-associated MPRA allelic enhancer 5:90269376 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:19357116 NCBI chr 5:90,973,487...90,973,631 JBrowse link
G LOC128772270 melanoma risk locus-associated MPRA allelic enhancer 5:90272756 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:19357116 NCBI chr 5:90,976,867...90,977,011 JBrowse link
G LOC128772271 melanoma risk locus-associated MPRA allelic enhancer 5:90276298 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:19357116 NCBI chr 5:90,980,409...90,980,553 JBrowse link
G LOC128772272 melanoma risk locus-associated MPRA allelic enhancer 5:90277675 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:19357116 NCBI chr 5:90,981,786...90,981,930 JBrowse link
G LOC128772273 melanoma risk locus-associated MPRA allelic enhancer 5:90277863 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:19357116 NCBI chr 5:90,981,974...90,982,118 JBrowse link
G LOC129389321 MPRA-validated peak5350 silencer IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:19357116 PMID:25741868 NCBI chr 5:90,801,339...90,801,539 JBrowse link
G LOC129994205 ATAC-STARR-seq lymphoblastoid silent region 16170 IAGP ClinVar Annotator: match by term: ADGRV1-related condition ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
G PDZD7 PDZ domain containing 7 IAGP
EXP		 ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
ClinVar Annotator: match by term: Usher syndrome type 2C
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 More... NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		JBrowse link
G SLC4A7 solute carrier family 4 member 7 ISS OMIM:605472 MouseDO NCBI chr 3:27,372,723...27,484,384
Ensembl chr 3:27,372,723...27,484,420 		JBrowse link
G WDR36 WD repeat domain 36 IAGP ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr 5:111,092,348...111,130,502
Ensembl chr 5:111,092,321...111,130,502 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Usher syndrome type 2D
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D
OMIM:611383
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 More... NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473 		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 IAGP ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727 		JBrowse link
G CLRN1-AS1 CLRN1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 PMID:16028794 More... NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Usher syndrome type 3A
OMIM:276902
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... RGD:634439 NCBI chr 3:150,926,163...150,972,999
Ensembl chr 3:150,926,163...150,972,727 		JBrowse link
G CLRN1-AS1 CLRN1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Usher syndrome type 3A ClinVar PMID:12080385 PMID:12145752 PMID:14569126 PMID:16028794 PMID:18281613 More... NCBI chr 3:150,972,678...151,080,726
Ensembl chr 3:150,852,484...151,080,726 		JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Usher syndrome type 3A ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448 		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 IAGP ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr 5:140,670,794...140,673,576
Ensembl chr 5:140,670,794...140,673,576 		JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP
EXP		 ClinVar Annotator: match by term: Usher syndrome type 3B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 More... NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537 		JBrowse link
G HARS2 histidyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr 5:140,691,455...140,699,305
Ensembl chr 5:140,691,430...140,699,305 		JBrowse link
G LOC129994848 ATAC-STARR-seq lymphoblastoid active region 23285 IAGP ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532
Usher Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARSG arylsulfatase G IAGP ClinVar Annotator: match by term: Usher syndrome, type 4
ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 More... NCBI chr17:68,259,170...68,452,019
Ensembl chr17:68,259,182...68,422,731 		JBrowse link
G LOC130061524 ATAC-STARR-seq lymphoblastoid active region 12647 IAGP ClinVar Annotator: match by term: Usher syndrome, type 4 ClinVar PMID:25741868 NCBI chr17:68,356,748...68,356,807 JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP ClinVar Annotator: match by term: Usher syndrome, type 4
ClinVar Annotator: match by term: ARSG-related condition		 ClinVar PMID:25741868 PMID:28492532 PMID:33300174 PMID:35226187 PMID:36317447 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		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 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:14740321 PMID:15671307 PMID:19357117 PMID:22135276 PMID:22147658 More... NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437 		JBrowse link
G PDZD7 PDZ domain containing 7 IAGP ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295 		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 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr10:71,396,920...71,815,947
Ensembl chr10:71,396,920...71,815,947 		JBrowse link
G CDH23-AS1 CDH23 antisense RNA 1 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:21940737 PMID:28492532 NCBI chr10:71,508,153...71,511,920
Ensembl chr10:71,508,153...71,511,873 		JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr10:53,802,771...55,627,942
Ensembl chr10:53,802,771...55,627,942 		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 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G NUF2 NUF2 component of NDC80 kinetochore complex IAGP ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr 1:163,321,954...163,355,759
Ensembl chr 1:163,266,576...163,355,764 		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 IAGP DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP		 ClinVar Annotator: match by term: Wolfram syndrome
ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 More... RGD:1599813 NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC129992166 ATAC-STARR-seq lymphoblastoid silent region 15229 IAGP ClinVar Annotator: match by term: Wolfram syndrome 1 ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More...
G WFS1 wolframin ER transmembrane glycoprotein IAGP
ISS		 ClinVar Annotator: match by term: Wolfram syndrome 1
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1
OMIM:222300		 OMIM
ClinVar
MouseDO		 PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		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
IAGP
EXP		 ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045601, RGD:10045603 NCBI chr 4:102,868,992...102,892,807
Ensembl chr 4:102,868,974...102,892,807 		JBrowse link
G CISD3 CDGSH iron sulfur domain 3 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741909 NCBI chr17:38,730,341...38,735,605
Ensembl chr17:38,730,341...38,735,605 		JBrowse link
G LOC129992891 ATAC-STARR-seq lymphoblastoid silent region 15602 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868
G LOC129992892 ATAC-STARR-seq lymphoblastoid silent region 15603 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:25371195 PMID:25741868 PMID:28492532 More...
G PCGF2 polycomb group ring finger 2 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741909 NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817 		JBrowse link
G SLC9B1 solute carrier family 9 member B1 IAGP ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 4:102,885,049...103,019,705
Ensembl chr 4:102,885,048...103,019,719 		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 IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:108,088,829...108,154,671
Ensembl chr  X:108,091,668...108,154,671 		JBrowse link
G COL4A4 collagen type IV alpha 4 chain IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 More... NCBI chr 2:226,967,360...227,164,488
Ensembl chr 2:227,002,714...227,164,453 		JBrowse link
G COL4A5 collagen type IV alpha 5 chain IAGP
ISS
EXP		 ClinVar Annotator: match by term: X-linked Alport syndrome
ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome
OMIM:301050
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 More... NCBI chr  X:108,439,838...108,697,545
Ensembl chr  X:108,439,838...108,697,545 		JBrowse link
G COL4A6 collagen type IV alpha 6 chain IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497 		JBrowse link
G FN1 fibronectin 1 IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073 		JBrowse link
G LOC126863300 BRD4-independent group 4 enhancer GRCh37_chrX:107513459-107514658 IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:108,270,229...108,271,428 JBrowse link
G LOC126863301 CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:107884720-107885919 IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:108,641,490...108,642,689 JBrowse link
G MSR1 macrophage scavenger receptor 1 IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr 8:16,107,881...16,192,651
Ensembl chr 8:16,107,878...16,567,490 		JBrowse link
G ZC3H12C zinc finger CCCH-type containing 12C IAGP ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 NCBI chr11:110,093,392...110,171,841
Ensembl chr11:110,093,392...110,171,841 		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 IAGP
EXP		 DNA:missense mutation:exon:p.G306E (c.917G>A) (human)
ClinVar Annotator: match by term: Deafness, X-linked 1
ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8968763 PMID:10503584 PMID:15240907 PMID:17701900 PMID:20021999 More... RGD:11061884 NCBI chr  X:107,628,510...107,651,026
Ensembl chr  X:107,628,428...107,651,993 		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 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear		 CTD
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GJB6 gap junction protein beta 6 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear		 CTD
ClinVar		 PMID:10730756 PMID:11017065 PMID:12419304 PMID:12788524 PMID:14708603 More... NCBI chr13:20,221,962...20,232,319
Ensembl chr13:20,221,962...20,232,365 		JBrowse link
G POU3F4 POU class 3 homeobox 4 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, X-linked 2
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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 More... NCBI chr  X:83,508,290...83,512,127
Ensembl chr  X:83,508,290...83,512,127 		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 IAGP
ISS
EXP		 ClinVar Annotator: match by term: Deafness, X-linked 4
ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4
OMIM:300066
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More... NCBI chr  X:21,705,978...21,758,116
Ensembl chr  X:21,705,978...21,758,116 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, X-linked 5
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: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chr  X:130,129,362...130,165,841
Ensembl chr  X:130,124,666...130,165,879 		JBrowse link
G LOC130068679 ATAC-STARR-seq lymphoblastoid active region 29939 IAGP ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar NCBI chr  X:130,165,490...130,165,829 JBrowse link
G RAB33A RAB33A, member RAS oncogene family IAGP ClinVar Annotator: match by term: Deafness, X-linked 5
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: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5		 ClinVar PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chr  X:130,110,623...130,184,870
Ensembl chr  X:130,171,962...130,184,870 		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 IAGP
EXP		 ClinVar Annotator: match by term: Deafness, X-linked 6
ClinVar Annotator: match by term: COL4A6-related condition | ClinVar Annotator: match by term: Deafness, X-linked 6
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:17576681 PMID:23714752 PMID:25741868 PMID:26467025 More... NCBI chr  X:108,155,614...108,439,458
Ensembl chr  X:108,155,607...108,439,497 		JBrowse link
X-linked deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARMCX5-GPRASP2 ARMCX5-GPRASP2 readthrough IAGP ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome ClinVar PMID:25741868 NCBI chr  X:102,599,348...102,908,064
Ensembl chr  X:102,712,495...102,753,530
Ensembl chr  X:102,712,495...102,753,530
Ensembl chr  X:102,712,495...102,753,530 		JBrowse link
G GPRASP2 G protein-coupled receptor associated sorting protein 2 IAGP 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:102,712,448...102,717,733
Ensembl chr  X:102,712,445...102,717,733 		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 IAGP
EXP		 ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741905 NCBI chr  X:136,869,192...136,880,725
Ensembl chr  X:136,848,004...136,880,764 		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 IAGP
EXP		 DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human)
ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME
ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1
ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1
DNA:mutation:exon:c. 6740A>C (p.H224P)(human)
DNA:nonsense mutation:exon:324C>T (p.R37X) (human)		 ClinVar
CTD
OMIM
RGD		 PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 More... RGD:1599406, RGD:13442490, RGD:11040909 NCBI chr  X:77,504,880...77,786,216
Ensembl chr  X:77,504,880...77,786,233 		JBrowse link
G EPOR erythropoietin receptor IAGP ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 NCBI chr19:11,377,207...11,384,314
Ensembl chr19:11,377,207...11,384,342 		JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:25741868 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752 		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 IAGP ClinVar Annotator: match by term: X-linked deafness ClinVar NCBI chr  X:21,705,978...21,758,116
Ensembl chr  X:21,705,978...21,758,116 		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 IAGP
EXP		 ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS		 ClinVar
CTD
OMIM		 PMID:1733835 PMID:8673101 PMID:10094550 PMID:14627685 PMID:16055928 More... NCBI chr  X:38,269,163...38,327,509
Ensembl chr  X:38,269,163...38,327,544 		JBrowse link
Y-linked deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126057105 P300/CBP strongly-dependent group 1 enhancer GRCh37_chrY:6931456-6932655 IAGP ClinVar Annotator: match by term: Deafness, Y-linked 2 ClinVar PMID:25741868 PMID:28492532 PMID:30341416 NCBI chr  Y:7,063,415...7,064,614 JBrowse link
G TBL1Y transducin beta like 1 Y-linked IAGP ClinVar Annotator: match by term: Deafness, Y-linked 2 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30341416 NCBI chr  Y:6,910,697...7,091,683
Ensembl chr  Y:6,910,686...7,101,970 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    sensory system disease 9730
      Hearing Disorders 1140
        Hearing Loss 1134
          Deafness 651
            3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 28
            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 18
            COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
            Cardioauditory Syndrome of Sanchez Cascos 0
            Congenital Deafness and Familial Myoclonic Epilepsy 0
            Congenital Deafness, with Vitiligo and Achalasia 0
            Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 0
            Congenital Myopathy with Neuropathy and Deafness 2
            Coxoauricular Syndrome 0
            DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 1
            DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY 2
            Davenport Donlan Syndrome 0
            Deaf-Blind Disorders + 242
            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 3
            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 2
            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 4
            Opticocochleodentate Degeneration 0
            Perrault syndrome + 14
            Ramos Arroyo Clark Syndrome 0
            Ribbonlike Corneal Degeneration with Deafness 0
            Richards-Rundle Syndrome 0
            Schimke X-Linked Mental Retardation Syndrome 0
            Schlegelberger Grote Syndrome 0
            Secretory Diarrhea, Myopathy, and Deafness 0
            Siddiqi syndrome 1
            Sinoatrial Node Dysfunction and Deafness 2
            Tietz syndrome 2
            Wright Dyck Syndrome 0
            X-linked Alport syndrome 9
            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 4
            nonsyndromic deafness + 321
            spastic paraplegia with deafness 0
            temtamy preaxial brachydactyly syndrome 2
Path 2
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  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          sensory system disease 9730
            Otorhinolaryngologic Diseases 2281
              auditory system disease 1340
                Hearing Disorders 1140
                  Hearing Loss 1134
                    Deafness 651
                      3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome 28
                      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 18
                      COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS 1
                      Cardioauditory Syndrome of Sanchez Cascos 0
                      Congenital Deafness and Familial Myoclonic Epilepsy 0
                      Congenital Deafness, with Vitiligo and Achalasia 0
                      Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation 0
                      Congenital Myopathy with Neuropathy and Deafness 2
                      Coxoauricular Syndrome 0
                      DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY 1
                      DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY 2
                      Davenport Donlan Syndrome 0
                      Deaf-Blind Disorders + 242
                      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 3
                      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 2
                      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 4
                      Opticocochleodentate Degeneration 0
                      Perrault syndrome + 14
                      Ramos Arroyo Clark Syndrome 0
                      Ribbonlike Corneal Degeneration with Deafness 0
                      Richards-Rundle Syndrome 0
                      Schimke X-Linked Mental Retardation Syndrome 0
                      Schlegelberger Grote Syndrome 0
                      Secretory Diarrhea, Myopathy, and Deafness 0
                      Siddiqi syndrome 1
                      Sinoatrial Node Dysfunction and Deafness 2
                      Tietz syndrome 2
                      Wright Dyck Syndrome 0
                      X-linked Alport syndrome 9
                      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 4
                      nonsyndromic deafness + 321
                      spastic paraplegia with deafness 0
                      temtamy preaxial brachydactyly syndrome 2
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