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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:autosomal recessive nonsyndromic deafness
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Accession:DOID:0050565 term browser browse the term
Definition:A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. (DO)
Comment:OMIM:607197 is an older phenotype record for this disease.
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB;   autosomal recessive deafness
 primary_id: MESH:C564609
 alt_id: MIM:607197
 xref: MIM:PS220290


show annotations for term's descendants           Sort by:
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:25741868 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 ANAPC15 anaphase promoting complex subunit 15 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 NCBI chr11:72,106,372...72,112,780
Ensembl chr11:72,106,378...72,112,780 		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 nonsyndromic deafness ClinVar PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 PMID:16935888 More... 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 Annotator: match by term: Autosomal recessive nonsyndromic deafness 		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: Autosomal recessive nonsyndromic deafness
ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI 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: Autosomal recessive nonsyndromic deafness
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
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 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30311386 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: Autosomal recessive nonsyndromic deafness ClinVar PMID:30311386 NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,608,568...44,725,315 		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:24033266 PMID:25741868 PMID:26214305 PMID:26426422 More... NCBI chr15:78,104,606...78,131,535
Ensembl chr15:78,104,606...78,131,535 		JBrowse link
G CLCC1 chloride channel CLIC like 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 1:108,929,505...108,963,484
Ensembl chr 1:108,881,885...108,963,527 		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 Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 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
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 More... 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 DYSF dysferlin IAGP ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:28492532 NCBI chr 2:71,453,561...71,686,763
Ensembl chr 2:71,453,561...71,686,763 		JBrowse link
G EDNRB endothelin receptor type B IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chr13:77,895,487...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:14633923 PMID:16944573 PMID:17554617 PMID:18162831 PMID:20127975 More... NCBI chr13:77,818,937...77,908,442
Ensembl chr13:77,779,723...77,908,445 		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 nonsyndromic deafness 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 nonsyndromic deafness 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 Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:20602914 PMID:22578326 PMID:25741868 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:24033266 PMID:28492532 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:28492532 PMID:30303587 NCBI chr 3:121,987,323...122,061,655
Ensembl chr 3:121,987,323...122,022,247 		JBrowse link
G KARS1 lysyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 More... NCBI chr16:75,627,724...75,647,665
Ensembl chr16:75,627,474...75,648,643 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 NCBI chr 1:160,037,467...160,070,160
Ensembl chr 1:159,998,651...160,070,483 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 More... NCBI chr 6:35,805,352...35,824,070
Ensembl chr 6:35,797,206...35,845,397 		JBrowse link
G LOC105371566 uncharacterized LOC105371566 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr17:18,107,691...18,117,561 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 LOC111982869 Sharpr-MPRA regulatory region 2121 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19888295 PMID:21917145 PMID:24006325 PMID:24033266 PMID:25741868 More... NCBI chr10:71,805,832...71,806,126 JBrowse link
G LOC123956210 Sharpr-MPRA regulatory region 3291 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:16283880 PMID:17125574 PMID:20301640 PMID:23638949 PMID:24224479 More... 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 LOC129996737 ATAC-STARR-seq lymphoblastoid silent region 17342 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 6:75,749,046...75,749,215 JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:24033266 PMID:25741868 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 nonsyndromic deafness ClinVar PMID:35802133 PMID:37074134 NCBI chr17:46,372,792...47,049,128
Ensembl chr17:46,511,508...46,556,910 		JBrowse link
G LRRC51 leucine rich repeat containing 51 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar 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 ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:72,080,850...72,110,782
Ensembl chr11:72,080,331...72,110,782 		JBrowse link
G MARVELD2 MARVEL domain containing 2 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:30303587 NCBI chr 5:69,415,116...69,444,330
Ensembl chr 5:69,415,065...69,444,330 		JBrowse link
G MPZL2 myelin protein zero like 2 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 NCBI chr11:118,253,416...118,264,297
Ensembl chr11:118,253,416...118,264,536 		JBrowse link
G MSRB3 methionine sulfoxide reductase B3 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar 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
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: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:9536098 PMID:16199547 PMID:17546645 PMID:17576681 PMID:19309289 More... NCBI 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: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 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: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:28492532 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: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI 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: Deafness, autosomal recessive
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
RGD		 PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:19461658 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 PMID:30311386 NCBI chr11:17,547,259...17,646,044
Ensembl chr11:17,547,259...17,647,150 		JBrowse link
G OTOGL otogelin like IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr12:80,099,537...80,380,880
Ensembl chr12:80,099,537...80,380,880 		JBrowse link
G PCDH15 protocadherin related 15 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:25741868 PMID:28492532 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 nonsyndromic deafness ClinVar PMID:20440071 PMID:25741868 PMID:28492532 PMID:29048736 PMID:30311386 More... 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: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:24033266 More... NCBI 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 PRKRA protein activator of interferon induced protein kinase EIF2AK2 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:178,431,414...178,451,175
Ensembl chr 2:178,431,292...178,451,512 		JBrowse link
G PSAP prosaposin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 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 PTPRQ protein tyrosine phosphatase receptor type Q IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:30303587 PMID:30311386 NCBI chr12:80,444,235...80,680,273
Ensembl chr12:80,402,178...80,680,273 		JBrowse link
G RDX radixin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 NCBI chr11:110,174,922...110,296,614
Ensembl chr11:109,864,295...110,296,712 		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 nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		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:19287372 PMID:25372295 PMID:28492532 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 IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 7:103,352,730...103,446,207
Ensembl chr 7:103,352,730...103,446,207 		JBrowse link
G TBCEL-TECTA TBCEL-TECTA readthrough IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI 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 nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 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: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 More... NCBI chr 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:28492532 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 nonsyndromic deafness
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:17551081 More... NCBI 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 nonsyndromic deafness ClinVar PMID:20642360 PMID:38374469 NCBI chr 2:28,956,518...29,052,230
Ensembl chr 2:28,956,611...29,052,230 		JBrowse link
G TOMT transmembrane O-methyltransferase IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr11:72,105,924...72,109,596
Ensembl chr11:72,105,924...72,109,596 		JBrowse link
G TPRN taperin IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 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 Annotator: match by term: Autosomal recessive nonsyndromic deafness 		ClinVar PMID:16385457 PMID:16385458 PMID:20510926 PMID:28492532 PMID:30303587 More... 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: Deafness, autosomal recessive
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness 		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...216,238,122 		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 9:114,402,078...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: PPIP5K2-related condition
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 ClinVar Annotator: match by term: Deafness, autosomal recessive 101
ClinVar Annotator: match by term: Deafness, autosomal recessive 101 | ClinVar Annotator: match by term: GRXCR2-related condition 		ClinVar
OMIM		 PMID:24619944 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 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 ClinVar Annotator: match by term: Deafness, autosomal recessive 102
ClinVar Annotator: match by term: Deafness, autosomal recessive 102 | ClinVar Annotator: match by term: EPS8-related condition 		ClinVar
OMIM		 PMID:24033266 PMID:24741995 PMID:25741868 PMID:26467025 PMID:28492532 More... 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 ClinVar Annotator: match by term: Deafness, autosomal recessive 103
ClinVar Annotator: match by term: CLIC5-related condition
ClinVar Annotator: match by term: CLIC5-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 103 		ClinVar
OMIM		 PMID:24033266 PMID:24781754 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 6:45,880,827...46,129,819
Ensembl chr 6:45,880,827...46,080,348 		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 ClinVar Annotator: match by term: Deafness, autosomal recessive 104
ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition 		ClinVar
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 Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106
ClinVar Annotator: match by term: Deafness, autosomal recessive 106 | ClinVar Annotator: match by term: EPS8L2-related condition 		ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26282398 PMID:28281779 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
G LOC130005078 ATAC-STARR-seq lymphoblastoid silent region 3018 IAGP ClinVar Annotator: match by term: EPS8L2-related condition ClinVar PMID:28492532 NCBI chr11:721,089...721,238 JBrowse link
G LOC130005080 ATAC-STARR-seq lymphoblastoid silent region 3020 IAGP ClinVar Annotator: match by term: EPS8L2-related condition ClinVar PMID:28492532 NCBI chr11:725,756...726,055 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
ClinVar Annotator: match by term: Deafness, autosomal recessive 107 | ClinVar Annotator: match by term: WBP2-related condition 		OMIM
ClinVar		 PMID:25741868 PMID:26881968 PMID:28492532 NCBI 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 Annotator: match by term: Deafness, autosomal recessive 108 | ClinVar Annotator: match by term: ROR1-related condition 		ClinVar
OMIM		 PMID:25741868 PMID:26467025 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 Annotator: match by term: ESRP1-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 109 | ClinVar Annotator: match by term: ESRP1-related condition 		ClinVar
OMIM		 PMID:25741868 PMID:28492532 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: DEAFNESS, AUTOSOMAL RECESSIVE 111 | ClinVar Annotator: match by term: Deafness, autosomal recessive 111
ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition 		OMIM
ClinVar		 PMID: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 BDP1 general transcription factor IIIB subunit IAGP ClinVar Annotator: match by term: BDP1-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 112 | ClinVar Annotator: match by term: Deafness, autosomal recessive 112
ClinVar Annotator: match by term: BDP1-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 112 		OMIM
ClinVar		 PMID:24312468 PMID:25741868 PMID:26467025 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 chr19:44,608,568...44,725,315 		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: Hearing loss, 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: Hearing loss, autosomal recessive 115
ClinVar Annotator: match by term: SPNS2-related condition
ClinVar Annotator: match by term: Hearing loss, autosomal recessive 115 | ClinVar Annotator: match by term: SPNS2-related condition 		OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI 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: CLDN9-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 116 		OMIM
ClinVar		 PMID:25741868 PMID:30311386 PMID:31175426 PMID:34265170 PMID:35802133 More... NCBI 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: Deafness, autosomal recessive 117
ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 		OMIM
ClinVar		 PMID:25741868 PMID:33496845 PMID:38243601 NCBI 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:26138355 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: ATP2B2-related disorder
ClinVar Annotator: match by term: ATP2B2-related disorder | 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:26467025 PMID:27535533 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 Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 		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 | 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:3442652 PMID:9536098 PMID:11090341 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 Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 		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 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 Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 		ClinVar PMID:11138009 PMID:19888295 PMID:21917145 PMID:21940737 PMID:24006325 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 Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 		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: 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:25741868 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 124 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PKHD1L1 PKHD1 like 1 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 ClinVar
OMIM		 PMID:38459354 NCBI chr 8:109,362,461...109,537,207
Ensembl chr 8:109,362,461...109,537,207 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 125 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAS2 growth arrest specific 2 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 125 OMIM
ClinVar		 PMID:33964205 NCBI chr11:22,626,002...22,813,055
Ensembl chr11:22,625,509...22,813,001 		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: GIPC3-related condition
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95
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:23510777 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: 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 Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: Deafness, autosomal recessive 18 		ClinVar PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI 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: DEAFNESS, AUTOSOMAL RECESSIVE 18 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		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 		ClinVar Annotator: match by term: Deafness, autosomal recessive 18A
ClinVar Annotator: match by term: Deafness, autosomal recessive 18A | ClinVar Annotator: match by term: USH1C-related condition
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A
OMIM:602092 		ClinVar
MouseDO
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
G USH1G USH1 protein network component sans IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 18A ClinVar PMID:25741868 PMID:28492532 NCBI chr17:74,916,083...74,923,255
Ensembl chr17:74,916,083...74,923,256 		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 		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 		ClinVar
MouseDO
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 ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:19894250 PMID:25741868 PMID:29572252 PMID:30820731 PMID:30871974 More... NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		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
ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3
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
OMIM
CTD		 PMID:12791041 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: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 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
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 1B | ClinVar Annotator: match by term: Deafness, autosomal recessive 1b
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 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: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 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:3442652 PMID:3494809 PMID:7568224 PMID:7870171 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: 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: 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: 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 chr16:21,834,563...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
ClinVar Annotator: match by term: Deafness, autosomal recessive 24 | ClinVar Annotator: match by term: RDX-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:26467025 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 ClinVar Annotator: match by term: Deafness, autosomal recessive 25
ClinVar Annotator: match by term: GRXCR1-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 25 | ClinVar Annotator: match by term: GRXCR1-related condition 		ClinVar
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
G LOC126807172 MED14-independent group 3 enhancer GRCh37_chr4:144358834-144360033 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 26 ClinVar NCBI chr 4:143,437,681...143,438,880 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: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition
OMIM:609823
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:16199547 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 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 		ClinVar Annotator: match by term: Deafness, autosomal recessive 29
ClinVar Annotator: match by term: CLDN14-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 29
OMIM:614035 		ClinVar
MouseDO
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 Annotator: match by term: CLDN14-related condition | 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 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 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 3 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,608,568...44,725,315 		JBrowse link
G COASY Coenzyme A synthase IAGP ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 ClinVar PMID:28492532 NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G KIFBP kinesin family binding protein IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		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 LOC130003959 ATAC-STARR-seq lymphoblastoid active region 3474 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:68,988,595...68,988,974 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: 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: 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
G OTOF otoferlin IAGP ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 ClinVar PMID:25741868 NCBI chr 2:26,457,203...26,558,756
Ensembl chr 2:26,457,203...26,558,756 		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:16199547 PMID:17344846 PMID:17576681 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
EXP
ISS 		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 | ClinVar Annotator: match by term: WHRN-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHRN-related condition
CTD Direct Evidence: marker/mechanism
OMIM:607084 		ClinVar
CTD
MouseDO
OMIM		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:16199547 More... NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,078...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: CDC14A-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 32
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:26467025 PMID:27259055 More... NCBI chr 1:100,345,001...100,520,277
Ensembl chr 1:100,325,629...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
ClinVar Annotator: match by term: ESRRB-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 35 | ClinVar Annotator: match by term: ESRRB-related condition
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:12529709 PMID:16199547 PMID:18179891 PMID:22951369 PMID:23767834 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 ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement
ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant
ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement 		ClinVar
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: 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 | ClinVar Annotator: match by term: HGF-related condition
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 CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 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 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr19:44,699,038...44,725,184
Ensembl chr19:44,608,568...44,725,315 		JBrowse link
G FOXI1 forkhead box I1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: FOXI1-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 		OMIM
ClinVar		 PMID:17503324 PMID:20621367 PMID:20809947 PMID:22285650 PMID:24860705 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 ClinVar Annotator: match by term: KCNJ10-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
ClinVar Annotator: match by term: 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: KCNJ10-related disorder | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 		OMIM
ClinVar		 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...160,070,483 		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: SLC26A4-related disorder
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 SLC26A4 solute carrier family 26 member 4 IAGP
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: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-related disorder | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
DNA:transition:intron:g.IVS7-2A>G (human)
DNA:mutations:multiple (human) 		ClinVar
OMIM
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7411543, RGD:7411556, RGD:7411671, RGD:7421508 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: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 		ClinVar 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: 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
ClinVar Annotator: match by term: ADCY1-related condition
ClinVar Annotator: match by term: ADCY1-related condition | 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
ClinVar Annotator: match by term: CIB2-related condition
ClinVar Annotator: match by term: CIB2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 48
OMIM:609439
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:2911222 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 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, neurosensory, autosomal recessive 49
ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: MARVELD2-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 | ClinVar Annotator: match by term: MARVELD2-related condition
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:9536098 PMID:10677296 PMID:15558753 PMID:16033917 PMID:16199547 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 Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57 | 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 PMID:25741868 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 ClinVar Annotator: match by term: SLC26A5-related condition
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61 | ClinVar Annotator: match by term: SLC26A5-related condition 		OMIM
ClinVar		 PMID:12239568 PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 More... NCBI 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 Annotator: match by term: Deafness, autosomal recessive 63 | ClinVar Annotator: match by term: LRTOMT-related condition 		ClinVar PMID:24033266 PMID:25741868 PMID:25788562 PMID:26467025 PMID:28492532 More... 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 Annotator: match by term: Deafness, autosomal recessive 63 | ClinVar Annotator: match by term: LRTOMT-related condition 		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
ClinVar Annotator: match by term: Deafness, autosomal recessive 63 | ClinVar Annotator: match by term: LRTOMT-related condition
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 Annotator: match by term: Deafness, autosomal recessive 63 | ClinVar Annotator: match by term: LRTOMT-related condition 		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: 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:27148795 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 NCBI chr 6:35,805,221...35,805,390 JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1PR2 sphingosine-1-phosphate receptor 2 IAGP
ISS
EXP 		ClinVar Annotator: match by term: Deafness, autosomal recessive 68
ClinVar Annotator: match by term: S1PR2-related condition
OMIM:610419
CTD Direct Evidence: marker/mechanism 		ClinVar
MouseDO
CTD
OMIM		 PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26467025 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 MYO7A myosin VIIA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 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 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 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:15605408 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
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 NCBI chr 2:55,693,664...55,693,783 JBrowse link
G PNPT1 polyribonucleotide nucleotidyltransferase 1 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 70 ClinVar
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 		ClinVar Annotator: match by term: Deafness, autosomal recessive 74
ClinVar Annotator: match by term: MSRB3-related condition
OMIM:613718 		ClinVar
MouseDO
OMIM		 PMID:19650862 PMID:21185009 PMID:24033266 PMID:25741868 PMID:26467025 More... 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 ClinVar Annotator: match by term: SYNE4-related hearing loss
ClinVar Annotator: match by term: Deafness, autosomal recessive 76
ClinVar Annotator: match by term: Deafness, autosomal recessive 76 | ClinVar Annotator: match by term: SYNE4-related condition 		OMIM
ClinVar		 PMID:16199547 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 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
ClinVar Annotator: match by term: Deafness, autosomal recessive 77 | ClinVar Annotator: match by term: LOXHD1-related condition
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
ClinVar Annotator: match by term: Deafness, autosomal recessive 79 | ClinVar Annotator: match by term: TPRN-related condition
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 GJB3 gap junction protein beta 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 10 ClinVar PMID:25741868 NCBI chr 1:34,781,214...34,786,364
Ensembl chr 1:34,781,214...34,786,369 		JBrowse link
G TMPRSS3 transmembrane serine protease 3 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 8
ClinVar Annotator: match by term: Deafness, autosomal recessive 10
ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 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
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 8 | 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: TMPRSS3-related condition 		ClinVar
OMIM		 PMID:3285355 PMID:3459936 PMID:9536098 PMID:11137999 PMID:11424922 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 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84 OMIM
ClinVar		 PMID:20346435 PMID:25557914 PMID:25741868 PMID:26467025 PMID:29309402 More... 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 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 		ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 PMID:21931168 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 ClinVar Annotator: match by term: Deafness, autosomal recessive 86
ClinVar Annotator: match by term: Deafness , autosomal recessive 86 		ClinVar
OMIM		 PMID:22211675 PMID:22277662 PMID:23526554 PMID:24033266 PMID:24291220 More... NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671 		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 		ClinVar Annotator: match by term: Deafness, autosomal recessive 88
OMIM:615429 		OMIM
ClinVar
MouseDO		 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 ClinVar Annotator: match by term: Deafness, autosomal recessive 89 OMIM
ClinVar		 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 COQ8A coenzyme Q8A IAGP ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:24218524 PMID:25326637 PMID:26467025 PMID:28492532 PMID:32743982 More... NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544 		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 PMID:29704315 PMID:31130284 PMID:31400068 More... 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 Annotator: match by term: OTOF-related condition 		ClinVar PMID:18381613 PMID:19250381 PMID:20301429 PMID:22575033 PMID:24033266 More... NCBI chr 2:26,477,559...26,477,748 JBrowse link
G LOC129933336 ATAC-STARR-seq lymphoblastoid silent region 11274 IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9
ClinVar Annotator: match by term: OTOF-related condition 		ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 2:26,503,710...26,503,839 JBrowse link
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 MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:28492532 PMID:28964305 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802 		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: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition
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: OTOF-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 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:nonsense mutation:cds:p.Q829X (human)
DNA:snp:intron:IVS8-2A>G (human)
DNA:missense mutation:cds:p.L1011P (human)
associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human)
DNA:snps, deletion:cds:multiple (human)
DNA:missense mutation:cds:p.R1939Q (human)
DNA:missense mutation:cds:p.D1767G (mouse)
DNA:duplication:cds:c.1981dupG (human) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 More... RGD:9479153, RGD:9479156, RGD:737640, RGD:9479157, RGD:9479161, RGD:9491386, RGD:9491826, RGD:9491826, RGD:9585724 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...2,509,671 		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 ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91
ClinVar Annotator: match by term: SERPINB6-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 91 		ClinVar
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 		ClinVar Annotator: match by term: CABP2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 93
OMIM:614899 		OMIM
ClinVar
MouseDO		 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 LOC130006506 ATAC-STARR-seq lymphoblastoid active region 5325 IAGP ClinVar Annotator: match by term: NARS2-related condition ClinVar PMID:28492532 NCBI chr11:78,465,690...78,465,929 JBrowse link
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial IAGP ClinVar Annotator: match by term: Deafness, autosomal recessive 94 | ClinVar Annotator: match by term: NARS2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25807530 PMID:26402642 More... NCBI 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 ClinVar Annotator: match by term: Deafness, autosomal recessive 97 ClinVar
OMIM		 PMID:12920089 PMID:15735036 PMID:16189274 PMID:19318576 PMID:19723643 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 ClinVar Annotator: match by term: Deafness, autosomal recessive 98 OMIM
ClinVar		 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...44,525,952 		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 | ClinVar Annotator: match by term: Deafness, autosomal recessive 99
ClinVar Annotator: match by term: TMEM132E-related condition
ClinVar Annotator: match by term: Deafness, autosomal recessive 99 | ClinVar Annotator: match by term: TMEM132E-related condition 		OMIM
ClinVar		 PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr17:34,579,582...34,639,318
Ensembl chr17:34,579,487...34,639,318 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151016
    sensory system disease 27303
      Hearing Disorders 1738
        Hearing Loss 1732
          sensorineural hearing loss 1214
            autosomal recessive nonsyndromic deafness 221
              Autosomal Recessive Nonsyndromic Deafness 117 1
              Autosomal Recessive Nonsyndromic Deafness 118 0
              Autosomal Recessive Nonsyndromic Deafness 119 2
              Autosomal Recessive Nonsyndromic Deafness 120 2
              Autosomal Recessive Nonsyndromic Deafness 121 1
              Autosomal Recessive Nonsyndromic Deafness 122 1
              Autosomal Recessive Nonsyndromic Deafness 123 1
              Autosomal Recessive Nonsyndromic Deafness 124 1
              Autosomal Recessive Nonsyndromic Deafness 125 1
              Autosomal Recessive Nonsyndromic Deafness 18 + 3
              autosomal recessive nonsyndromic deafness 100 1
              autosomal recessive nonsyndromic deafness 101 1
              autosomal recessive nonsyndromic deafness 102 1
              autosomal recessive nonsyndromic deafness 103 1
              autosomal recessive nonsyndromic deafness 104 2
              autosomal recessive nonsyndromic deafness 106 5
              autosomal recessive nonsyndromic deafness 107 1
              autosomal recessive nonsyndromic deafness 108 1
              autosomal recessive nonsyndromic deafness 109 1
              autosomal recessive nonsyndromic deafness 110 2
              autosomal recessive nonsyndromic deafness 111 1
              autosomal recessive nonsyndromic deafness 112 1
              autosomal recessive nonsyndromic deafness 113 2
              autosomal recessive nonsyndromic deafness 114 1
              autosomal recessive nonsyndromic deafness 115 1
              autosomal recessive nonsyndromic deafness 116 1
              autosomal recessive nonsyndromic deafness 12 8
              autosomal recessive nonsyndromic deafness 13 0
              autosomal recessive nonsyndromic deafness 14 0
              autosomal recessive nonsyndromic deafness 15 1
              autosomal recessive nonsyndromic deafness 16 9
              autosomal recessive nonsyndromic deafness 17 0
              autosomal recessive nonsyndromic deafness 18A 2
              autosomal recessive nonsyndromic deafness 18B 1
              autosomal recessive nonsyndromic deafness 1A 37
              autosomal recessive nonsyndromic deafness 1B 34
              autosomal recessive nonsyndromic deafness 2 1
              autosomal recessive nonsyndromic deafness 20 0
              autosomal recessive nonsyndromic deafness 21 3
              autosomal recessive nonsyndromic deafness 22 8
              autosomal recessive nonsyndromic deafness 23 2
              autosomal recessive nonsyndromic deafness 24 1
              autosomal recessive nonsyndromic deafness 25 1
              autosomal recessive nonsyndromic deafness 26 2
              autosomal recessive nonsyndromic deafness 27 0
              autosomal recessive nonsyndromic deafness 28 3
              autosomal recessive nonsyndromic deafness 29 2
              autosomal recessive nonsyndromic deafness 3 10
              autosomal recessive nonsyndromic deafness 30 1
              autosomal recessive nonsyndromic deafness 31 1
              autosomal recessive nonsyndromic deafness 32 1
              autosomal recessive nonsyndromic deafness 33 0
              autosomal recessive nonsyndromic deafness 35 1
              autosomal recessive nonsyndromic deafness 36 1
              autosomal recessive nonsyndromic deafness 37 1
              autosomal recessive nonsyndromic deafness 38 0
              autosomal recessive nonsyndromic deafness 39 1
              autosomal recessive nonsyndromic deafness 4 7
              autosomal recessive nonsyndromic deafness 40 0
              autosomal recessive nonsyndromic deafness 42 1
              autosomal recessive nonsyndromic deafness 44 1
              autosomal recessive nonsyndromic deafness 45 0
              autosomal recessive nonsyndromic deafness 46 0
              autosomal recessive nonsyndromic deafness 47 0
              autosomal recessive nonsyndromic deafness 48 3
              autosomal recessive nonsyndromic deafness 49 1
              autosomal recessive nonsyndromic deafness 5 0
              autosomal recessive nonsyndromic deafness 51 0
              autosomal recessive nonsyndromic deafness 53 1
              autosomal recessive nonsyndromic deafness 55 0
              autosomal recessive nonsyndromic deafness 57 1
              autosomal recessive nonsyndromic deafness 59 2
              autosomal recessive nonsyndromic deafness 6 1
              autosomal recessive nonsyndromic deafness 61 1
              autosomal recessive nonsyndromic deafness 62 0
              autosomal recessive nonsyndromic deafness 63 5
              autosomal recessive nonsyndromic deafness 65 0
              autosomal recessive nonsyndromic deafness 66 2
              autosomal recessive nonsyndromic deafness 67 2
              autosomal recessive nonsyndromic deafness 68 1
              autosomal recessive nonsyndromic deafness 7 3
              autosomal recessive nonsyndromic deafness 70 2
              autosomal recessive nonsyndromic deafness 71 0
              autosomal recessive nonsyndromic deafness 74 1
              autosomal recessive nonsyndromic deafness 76 1
              autosomal recessive nonsyndromic deafness 77 1
              autosomal recessive nonsyndromic deafness 79 4
              autosomal recessive nonsyndromic deafness 8 2
              autosomal recessive nonsyndromic deafness 83 0
              autosomal recessive nonsyndromic deafness 84A 1
              autosomal recessive nonsyndromic deafness 84B 1
              autosomal recessive nonsyndromic deafness 85 0
              autosomal recessive nonsyndromic deafness 86 2
              autosomal recessive nonsyndromic deafness 88 1
              autosomal recessive nonsyndromic deafness 89 2
              autosomal recessive nonsyndromic deafness 9 24
              autosomal recessive nonsyndromic deafness 91 1
              autosomal recessive nonsyndromic deafness 93 1
              autosomal recessive nonsyndromic deafness 94 2
              autosomal recessive nonsyndromic deafness 96 0
              autosomal recessive nonsyndromic deafness 97 1
              autosomal recessive nonsyndromic deafness 98 6
              autosomal recessive nonsyndromic deafness 99 1
Path 2
Term Annotations click to browse term
  disease 151016
    Pathological Conditions, Signs and Symptoms 70344
      Signs and Symptoms 46168
        Neurologic Manifestations 38539
          sensory system disease 27303
            Otorhinolaryngologic Diseases 4236
              auditory system disease 2150
                Hearing Disorders 1738
                  Hearing Loss 1732
                    Deafness 719
                      nonsyndromic deafness 379
                        autosomal recessive nonsyndromic deafness 221
                          Autosomal Recessive Nonsyndromic Deafness 117 1
                          Autosomal Recessive Nonsyndromic Deafness 118 0
                          Autosomal Recessive Nonsyndromic Deafness 119 2
                          Autosomal Recessive Nonsyndromic Deafness 120 2
                          Autosomal Recessive Nonsyndromic Deafness 121 1
                          Autosomal Recessive Nonsyndromic Deafness 122 1
                          Autosomal Recessive Nonsyndromic Deafness 123 1
                          Autosomal Recessive Nonsyndromic Deafness 124 1
                          Autosomal Recessive Nonsyndromic Deafness 125 1
                          Autosomal Recessive Nonsyndromic Deafness 18 + 3
                          autosomal recessive nonsyndromic deafness 100 1
                          autosomal recessive nonsyndromic deafness 101 1
                          autosomal recessive nonsyndromic deafness 102 1
                          autosomal recessive nonsyndromic deafness 103 1
                          autosomal recessive nonsyndromic deafness 104 2
                          autosomal recessive nonsyndromic deafness 106 5
                          autosomal recessive nonsyndromic deafness 107 1
                          autosomal recessive nonsyndromic deafness 108 1
                          autosomal recessive nonsyndromic deafness 109 1
                          autosomal recessive nonsyndromic deafness 110 2
                          autosomal recessive nonsyndromic deafness 111 1
                          autosomal recessive nonsyndromic deafness 112 1
                          autosomal recessive nonsyndromic deafness 113 2
                          autosomal recessive nonsyndromic deafness 114 1
                          autosomal recessive nonsyndromic deafness 115 1
                          autosomal recessive nonsyndromic deafness 116 1
                          autosomal recessive nonsyndromic deafness 12 8
                          autosomal recessive nonsyndromic deafness 13 0
                          autosomal recessive nonsyndromic deafness 14 0
                          autosomal recessive nonsyndromic deafness 15 1
                          autosomal recessive nonsyndromic deafness 16 9
                          autosomal recessive nonsyndromic deafness 17 0
                          autosomal recessive nonsyndromic deafness 18A 2
                          autosomal recessive nonsyndromic deafness 18B 1
                          autosomal recessive nonsyndromic deafness 1A 37
                          autosomal recessive nonsyndromic deafness 1B 34
                          autosomal recessive nonsyndromic deafness 2 1
                          autosomal recessive nonsyndromic deafness 20 0
                          autosomal recessive nonsyndromic deafness 21 3
                          autosomal recessive nonsyndromic deafness 22 8
                          autosomal recessive nonsyndromic deafness 23 2
                          autosomal recessive nonsyndromic deafness 24 1
                          autosomal recessive nonsyndromic deafness 25 1
                          autosomal recessive nonsyndromic deafness 26 2
                          autosomal recessive nonsyndromic deafness 27 0
                          autosomal recessive nonsyndromic deafness 28 3
                          autosomal recessive nonsyndromic deafness 29 2
                          autosomal recessive nonsyndromic deafness 3 10
                          autosomal recessive nonsyndromic deafness 30 1
                          autosomal recessive nonsyndromic deafness 31 1
                          autosomal recessive nonsyndromic deafness 32 1
                          autosomal recessive nonsyndromic deafness 33 0
                          autosomal recessive nonsyndromic deafness 35 1
                          autosomal recessive nonsyndromic deafness 36 1
                          autosomal recessive nonsyndromic deafness 37 1
                          autosomal recessive nonsyndromic deafness 38 0
                          autosomal recessive nonsyndromic deafness 39 1
                          autosomal recessive nonsyndromic deafness 4 7
                          autosomal recessive nonsyndromic deafness 40 0
                          autosomal recessive nonsyndromic deafness 42 1
                          autosomal recessive nonsyndromic deafness 44 1
                          autosomal recessive nonsyndromic deafness 45 0
                          autosomal recessive nonsyndromic deafness 46 0
                          autosomal recessive nonsyndromic deafness 47 0
                          autosomal recessive nonsyndromic deafness 48 3
                          autosomal recessive nonsyndromic deafness 49 1
                          autosomal recessive nonsyndromic deafness 5 0
                          autosomal recessive nonsyndromic deafness 51 0
                          autosomal recessive nonsyndromic deafness 53 1
                          autosomal recessive nonsyndromic deafness 55 0
                          autosomal recessive nonsyndromic deafness 57 1
                          autosomal recessive nonsyndromic deafness 59 2
                          autosomal recessive nonsyndromic deafness 6 1
                          autosomal recessive nonsyndromic deafness 61 1
                          autosomal recessive nonsyndromic deafness 62 0
                          autosomal recessive nonsyndromic deafness 63 5
                          autosomal recessive nonsyndromic deafness 65 0
                          autosomal recessive nonsyndromic deafness 66 2
                          autosomal recessive nonsyndromic deafness 67 2
                          autosomal recessive nonsyndromic deafness 68 1
                          autosomal recessive nonsyndromic deafness 7 3
                          autosomal recessive nonsyndromic deafness 70 2
                          autosomal recessive nonsyndromic deafness 71 0
                          autosomal recessive nonsyndromic deafness 74 1
                          autosomal recessive nonsyndromic deafness 76 1
                          autosomal recessive nonsyndromic deafness 77 1
                          autosomal recessive nonsyndromic deafness 79 4
                          autosomal recessive nonsyndromic deafness 8 2
                          autosomal recessive nonsyndromic deafness 83 0
                          autosomal recessive nonsyndromic deafness 84A 1
                          autosomal recessive nonsyndromic deafness 84B 1
                          autosomal recessive nonsyndromic deafness 85 0
                          autosomal recessive nonsyndromic deafness 86 2
                          autosomal recessive nonsyndromic deafness 88 1
                          autosomal recessive nonsyndromic deafness 89 2
                          autosomal recessive nonsyndromic deafness 9 24
                          autosomal recessive nonsyndromic deafness 91 1
                          autosomal recessive nonsyndromic deafness 93 1
                          autosomal recessive nonsyndromic deafness 94 2
                          autosomal recessive nonsyndromic deafness 96 0
                          autosomal recessive nonsyndromic deafness 97 1
                          autosomal recessive nonsyndromic deafness 98 6
                          autosomal recessive nonsyndromic deafness 99 1
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