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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: OMIM:607197
 xref: OMIM:PS220290

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autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADGRV1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 NCBI chr 4:84,498,630...85,082,813
Ensembl chr 4:84,498,573...85,083,504 		JBrowse link
G ATP6V1B1 ATPase H+ transporting V1 subunit B1 ISO OMIM:607197 MouseDO NCBI chr14:36,149,074...36,179,145
Ensembl chr14:36,149,006...36,177,671 		JBrowse link
G BSND barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr20:77,943,853...77,960,883
Ensembl chr20:77,940,881...77,955,094 		JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr 1:6,741,202...6,744,931 JBrowse link
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23023331 PMID:25741868 PMID:30303587 NCBI chr26:5,222,657...5,248,133
Ensembl chr26:5,222,902...5,248,191 		JBrowse link
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 NCBI chr 2:80,457,907...80,535,855
Ensembl chr 2:80,458,270...80,458,989 		JBrowse link
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr17:26,231,192...26,364,076
Ensembl chr17:26,231,728...26,343,346 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		JBrowse link
G EDNRB endothelin receptor type B ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr 3:56,969,493...56,993,719
Ensembl chr 3:56,969,101...56,992,731 		JBrowse link
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr11:15,522,761...15,691,343
Ensembl chr11:15,522,616...15,691,133 		JBrowse link
G ESPN espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr20:125,282,283...125,320,436
Ensembl chr20:125,278,313...125,320,365 		JBrowse link
G ESRRB estrogen related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 NCBI chr24:53,630,998...53,762,098 JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr20:98,100,285...98,106,517
Ensembl chr20:98,102,413...98,103,225 		JBrowse link
G GOSR2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:35802133 PMID:37074134 NCBI chr16:60,630,505...60,664,596
Ensembl chr16:60,630,509...60,646,133 		JBrowse link
G GPR156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:37814107 NCBI chr22:60,520,726...60,654,971
Ensembl chr22:60,565,094...60,653,271 		JBrowse link
G GPSM2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chr20:24,659,470...24,713,714
Ensembl chr20:24,659,957...24,713,677 		JBrowse link
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20137778 PMID:30303587 NCBI chr27:7,300,259...7,436,241
Ensembl chr27:7,300,376...7,435,093 		JBrowse link
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr23:48,443,668...48,457,079
Ensembl chr23:48,443,748...48,456,614 		JBrowse link
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:15641023 PMID:21255762 PMID:25741868 PMID:30303587 NCBI chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303 		JBrowse link
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 NCBI chr17:36,295,612...36,313,964
Ensembl chr17:36,298,479...36,313,490 		JBrowse link
G LOC103216037 cadherin-23 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G LOC103233686 PDZ domain-containing protein GIPC3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 6:3,345,218...3,349,422
Ensembl chr 6:3,345,595...3,349,176 		JBrowse link
G LOC103243271 leucine-rich repeat-containing protein 37A3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:35802133 PMID:37074134 NCBI chr16:59,592,891...59,634,813 JBrowse link
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532 		JBrowse link
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 4:65,501,979...65,532,345
Ensembl chr 4:65,506,474...65,535,566 		JBrowse link
G MSRB3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19650862 PMID:21185009 PMID:30303587 NCBI chr11:60,970,103...61,157,950
Ensembl chr11:60,969,985...61,154,356 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr19:18,985,709...19,093,304
Ensembl chr19:18,986,598...19,052,671 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:17546645 PMID:25741868 PMID:27573290 PMID:28492532 PMID:30303587 NCBI chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009 		JBrowse link
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr 5:20,184,525...20,278,438
Ensembl chr 5:20,198,412...20,278,433 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:20301429 More... NCBI chr14:81,080,077...81,187,769
Ensembl chr14:81,080,462...81,186,697 		JBrowse link
G OTOG otogelin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 1:47,323,579...47,428,029
Ensembl chr 1:47,325,745...47,425,607 		JBrowse link
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:28492532 PMID:31253780 NCBI chr 9:94,026,036...94,049,043 JBrowse link
G PJVK pejvakin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 More... NCBI chr10:64,004,113...64,013,025
Ensembl chr10:64,005,259...64,014,571 		JBrowse link
G POU4F3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr23:48,915,247...48,920,163
Ensembl chr23:48,917,217...48,918,548 		JBrowse link
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr11:75,943,793...76,154,604
Ensembl chr11:75,943,260...76,154,083 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr21:76,578,035...76,631,725
Ensembl chr21:76,578,665...76,633,165 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 More... NCBI chr12:83,672,786...83,883,985
Ensembl chr12:83,735,988...83,877,251 		JBrowse link
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chr22:8,114,995...8,133,827 JBrowse link
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:24033266 More... NCBI chr 2:86,248,792...86,273,715
Ensembl chr 2:86,245,507...86,272,196 		JBrowse link
G TOGARAM2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chr14:78,551,667...78,623,546
Ensembl chr14:78,551,807...78,609,848 		JBrowse link
G TPRN taperin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20170899 PMID:30303587 NCBI chr12:988,225...997,914 JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr19:20,447,340...20,476,669 JBrowse link
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
G USH1G USH1 protein network component sans ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr16:46,757,704...46,764,113
Ensembl chr16:46,758,042...46,761,682 		JBrowse link
G USH2A usherin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr25:13,171,499...13,950,553
Ensembl chr25:13,173,576...13,947,724 		JBrowse link
G WHRN whirlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr12:25,087,286...25,189,982
Ensembl chr12:25,087,295...25,189,985 		JBrowse link
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 100 OMIM
ClinVar		 PMID:15538632 PMID:25741868 PMID:29590114 NCBI chr23:6,562,435...6,639,330
Ensembl chr23:6,571,657...6,641,002 		JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 101 OMIM
ClinVar		 PMID:24619944 PMID:25741868 PMID:28492532 NCBI chr23:48,443,668...48,457,079
Ensembl chr23:48,443,748...48,456,614 		JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 102 OMIM
ClinVar		 PMID:24033266 PMID:24741995 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr11:15,522,761...15,691,343
Ensembl chr11:15,522,616...15,691,133 		JBrowse link
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLIC5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 103 OMIM
ClinVar		 PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 NCBI chr17:26,231,192...26,364,076
Ensembl chr17:26,231,728...26,343,346 		JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G RIPOR2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 | ClinVar Annotator: match by term: RIPOR2-related condition OMIM
ClinVar		 PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:47,197,067...47,441,413
Ensembl chr17:47,308,984...47,451,779 		JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EPS8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:15,522,761...15,691,343
Ensembl chr11:15,522,616...15,691,133 		JBrowse link
G EPS8L2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 OMIM
ClinVar		 PMID:25741868 PMID:26282398 PMID:28281779 PMID:28492532 PMID:32747562 NCBI chr 1:523,811...540,781
Ensembl chr 1:523,524...540,803 		JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WBP2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 107 OMIM
ClinVar		 PMID:25741868 PMID:26881968 PMID:28492532 NCBI chr16:45,821,875...45,836,558
Ensembl chr16:45,821,967...45,835,530 		JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROR1 receptor tyrosine kinase like orphan receptor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 108 OMIM
ClinVar		 PMID:25741868 PMID:27162350 PMID:28492532 NCBI chr20:68,910,736...69,318,775
Ensembl chr20:68,910,751...68,954,618 		JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESRP1 epithelial splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 109 OMIM
ClinVar		 PMID:25741868 PMID:29107558 NCBI chr 8:89,609,723...89,679,035
Ensembl chr 8:89,608,014...89,679,037 		JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DICER1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111 ClinVar PMID:28492532 NCBI chr24:72,915,550...72,986,658
Ensembl chr24:72,915,499...72,963,006 		JBrowse link
G MPZL2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 More... NCBI chr 1:109,635,053...109,645,142
Ensembl chr 1:109,633,493...109,645,145 		JBrowse link
autosomal recessive nonsyndromic deafness 112 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BDP1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 112 OMIM
ClinVar		 PMID:24312468 PMID:25741868 NCBI chr 4:65,815,105...65,925,928
Ensembl chr 4:65,814,993...65,914,253 		JBrowse link
autosomal recessive nonsyndromic deafness 113 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 113 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342 		JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRAP GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 114 OMIM
ClinVar		 PMID:25741868 PMID:30610177 NCBI chr16:17,721,294...17,747,366
Ensembl chr16:17,720,269...17,747,319 		JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPNS2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 115 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr16:3,978,262...4,019,950
Ensembl chr16:3,978,845...4,022,678 		JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN9 claudin 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 116 OMIM
ClinVar		 PMID:25741868 PMID:30311386 PMID:31175426 PMID:35802133 PMID:36633841 NCBI chr 5:2,755,023...2,757,879
Ensembl chr 5:2,756,747...2,757,400 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLRN2 clarin 2 ISO ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 OMIM
ClinVar		 PMID:25741868 PMID:33496845 PMID:38243601 NCBI chr27:32,681,525...32,695,858
Ensembl chr27:32,682,435...32,694,564 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG2B AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34626583 NCBI chr26:37,793,373...37,812,921
Ensembl chr26:37,793,379...37,811,582 		JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of OMIM
ClinVar		 PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 More... NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr 9:59,550,997...59,574,975
Ensembl chr 9:59,572,662...59,573,063 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:24367894 PMID:25741868 NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G LOC103216037 cadherin-23 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr 9:59,475,126...59,893,824 JBrowse link
G PSAP prosaposin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 NCBI chr 9:59,440,327...59,474,773
Ensembl chr 9:59,440,311...59,474,986 		JBrowse link
G VSIR V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:25741868 NCBI chr 9:59,516,012...59,538,628
Ensembl chr 9:59,516,073...59,542,242 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 120 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MINAR2 membrane integral NOTCH2 associated receptor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 OMIM
ClinVar		 PMID:35727972 NCBI chr23:32,655,661...32,672,945
Ensembl chr23:32,655,735...32,674,117 		JBrowse link
G OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chr25:1,356,567...1,520,517
Ensembl chr25:1,366,179...1,514,668 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 121 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GPR156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 121 OMIM
ClinVar		 PMID:25741868 PMID:37814107 NCBI chr22:60,520,726...60,654,971
Ensembl chr22:60,565,094...60,653,271 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 122 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMTC4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 122 OMIM
ClinVar		 PMID:37943620 NCBI chr 3:79,228,673...79,299,249
Ensembl chr 3:79,228,571...79,293,006 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 123 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STX4 syntaxin 4 ISO OMIM NCBI chr 5:27,725,121...27,734,442
Ensembl chr 5:27,724,495...27,732,736 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 124 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PKHD1L1 PKHD1 like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 ClinVar
OMIM		 PMID:38459354 NCBI chr 8:104,072,701...104,230,809
Ensembl chr 8:104,073,327...104,230,960 		JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103233686 PDZ domain-containing protein GIPC3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 OMIM
ClinVar		 PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More... NCBI chr 6:3,345,218...3,349,422
Ensembl chr 6:3,345,595...3,349,176 		JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CATSPER2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chr26:39,300,273...39,325,846 JBrowse link
G FRMD5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr26:38,847,310...39,179,487
Ensembl chr26:39,119,525...39,170,954 		JBrowse link
G LOC103245735 stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition OMIM
ClinVar		 PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chr26:39,376,441...39,397,613
Ensembl chr26:39,378,318...39,401,072 		JBrowse link
G LOC103246095 creatine kinase U-type, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr26:39,397,797...39,401,046 JBrowse link
G PDIA3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr26:39,273,982...39,300,170
Ensembl chr26:39,272,997...39,349,966 		JBrowse link
G PPIP5K1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G USH1C USH1 protein network component harmonin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 1:47,428,181...47,477,578
Ensembl chr 1:47,437,596...47,477,834 		JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOG otogelin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition OMIM
ClinVar		 PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More... NCBI chr 1:47,323,579...47,428,029
Ensembl chr 1:47,325,745...47,425,607 		JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYL1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr 3:567,937...704,109
Ensembl chr 3:567,931...688,388 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:352,063...418,220
Ensembl chr 3:352,114...395,586 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:820,352...852,003
Ensembl chr 3:846,982...848,286 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G GJB3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 ClinVar
OMIM		 PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:98,100,285...98,106,517
Ensembl chr20:98,102,413...98,103,225 		JBrowse link
G GJB4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr20:98,125,073...98,126,343
Ensembl chr20:98,125,345...98,126,145 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM
ClinVar		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr 3:775,410...783,770
Ensembl chr 3:782,251...783,036 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:401,525...421,725 JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr 3:242,281...348,298
Ensembl chr 3:301,551...343,468 		JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYL1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chr 3:567,937...704,109
Ensembl chr 3:567,931...688,388 		JBrowse link
G EEF1AKMT1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:352,063...418,220
Ensembl chr 3:352,114...395,586 		JBrowse link
G GJA3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:820,352...852,003
Ensembl chr 3:846,982...848,286 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:3 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 More... NCBI chr 3:801,786...808,165
Ensembl chr 3:807,379...808,059 		JBrowse link
G GJB6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b OMIM
ClinVar		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr 3:775,410...783,770
Ensembl chr 3:782,251...783,036 		JBrowse link
G IFT88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:435,649...546,661
Ensembl chr 3:436,207...546,583 		JBrowse link
G IL17D interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:401,525...421,725 JBrowse link
G XPO4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr 3:242,281...348,298
Ensembl chr 3:301,551...343,468 		JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO7A myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 OMIM
ClinVar		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... NCBI chr 1:68,334,781...68,423,215
Ensembl chr 1:68,350,598...68,425,625 		JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition OMIM
ClinVar		 PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 More... NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647 		JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGSF6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 5:20,161,470...20,173,337
Ensembl chr 5:20,162,102...20,172,714 		JBrowse link
G METTL9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 5:20,128,112...20,177,591
Ensembl chr 5:20,128,176...20,175,564 		JBrowse link
G NPIPB4 nuclear pore complex interacting protein family member B4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 5:18,847,024...18,859,677 JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition OMIM
ClinVar		 PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 More... NCBI chr 5:20,184,525...20,278,438
Ensembl chr 5:20,198,412...20,278,433 		JBrowse link
G UQCR2 ubiquinol-cytochrome c reductase core protein II ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 5:19,622,884...19,653,667
Ensembl chr 5:19,623,410...19,653,479 		JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PCDH15 protocadherin related 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 23 OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr 9:75,642,985...77,415,370
Ensembl chr 9:76,726,627...77,398,716 		JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RDX radixin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 24 OMIM
ClinVar		 PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 1:101,554,640...101,647,765
Ensembl chr 1:101,554,334...101,623,093 		JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRXCR1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 25 OMIM
ClinVar		 PMID:16380907 PMID:20137774 PMID:20137778 PMID:24033266 PMID:25741868 More... NCBI chr27:7,300,259...7,436,241
Ensembl chr27:7,300,376...7,435,093 		JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAB1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 OMIM
ClinVar		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr 7:90,197,374...90,323,024
Ensembl chr 7:90,197,620...90,322,077 		JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRIO trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:25741868 PMID:28492532 PMID:32109419 NCBI chr 4:13,846,753...14,214,647
Ensembl chr 4:13,847,936...14,215,164 		JBrowse link
G TRIOBP TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition OMIM
ClinVar		 PMID:16199547 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 More... NCBI chr19:20,447,340...20,476,669 JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLDN14 claudin 14 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 29 OMIM
ClinVar		 PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 More... NCBI chr 2:80,457,907...80,535,855
Ensembl chr 2:80,458,270...80,458,989 		JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNNB1 catenin beta 1 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr22:2,679,488...2,725,034
Ensembl chr22:2,684,022...2,723,949 		JBrowse link
G MYO15A myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 OMIM
ClinVar		 PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 More... NCBI chr16:17,157,275...17,217,609
Ensembl chr16:17,157,490...17,218,009 		JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO3A myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 30 | ClinVar Annotator: match by term: MYO3A-related condition OMIM
ClinVar		 PMID:9536098 PMID:12032315 PMID:17344846 PMID:17576681 PMID:21165622 More... NCBI chr 9:25,635,918...25,902,552 JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WHRN whirlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF OMIM
ClinVar		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:17576681 More... NCBI chr12:25,087,286...25,189,982
Ensembl chr12:25,087,295...25,189,985 		JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC14A cell division cycle 14A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32 OMIM
ClinVar		 PMID:12634867 PMID:24033266 PMID:25741868 PMID:27259055 PMID:28492532 More... NCBI chr20:32,822,748...32,987,739
Ensembl chr20:32,822,746...32,986,718 		JBrowse link
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESRRB estrogen related receptor beta ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 35 OMIM
ClinVar		 PMID:12529709 PMID:18179891 PMID:22951369 PMID:23767834 PMID:24033266 More... NCBI chr24:53,630,998...53,762,098 JBrowse link
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ESPN espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant OMIM
ClinVar		 PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 More... NCBI chr20:125,282,283...125,320,436
Ensembl chr20:125,278,313...125,320,365 		JBrowse link
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYO6 myosin VI ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition OMIM
ClinVar		 PMID:9536098 PMID:11167014 PMID:12687499 PMID:16199547 PMID:17576681 More... NCBI chr13:527,361...620,418
Ensembl chr13:457,495...618,858 		JBrowse link
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HGF hepatocyte growth factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 39 OMIM
ClinVar		 PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr21:67,118,785...67,193,506
Ensembl chr21:67,120,722...67,193,504 		JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CEACAM16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr 6:38,179,822...38,189,731
Ensembl chr 6:38,180,658...38,187,342 		JBrowse link
G FOXI1 forkhead box I1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 OMIM
ClinVar		 PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 More... NCBI chr23:72,319,377...72,324,442
Ensembl chr23:72,321,483...72,325,532 		JBrowse link
G KCNJ10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 OMIM
ClinVar		 PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 More... NCBI chr20:3,873,915...3,907,587
Ensembl chr20:3,902,513...3,903,652 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct ClinVar PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 More... NCBI chr20:7,723,059...7,748,799
Ensembl chr20:7,723,477...7,748,780 		JBrowse link
G SLC26A4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4		 OMIM
ClinVar		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... NCBI chr21:76,578,035...76,631,725
Ensembl chr21:76,578,665...76,633,165 		JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ILDR1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 42 | ClinVar Annotator: match by term: ILDR1-related condition OMIM
ClinVar		 PMID:15641023 PMID:21255762 PMID:24033266 PMID:25668204 PMID:25741868 More... NCBI chr22:58,833,754...58,870,547
Ensembl chr22:58,834,293...58,870,303 		JBrowse link
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY1 adenylate cyclase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 44 OMIM
ClinVar		 PMID:15583425 PMID:24033266 PMID:24482543 PMID:24824130 PMID:25741868 More... NCBI chr21:12,976,687...13,117,876
Ensembl chr21:12,979,033...13,117,730 		JBrowse link
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CIB2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 48 OMIM
ClinVar		 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 More... NCBI chr26:5,222,657...5,248,133
Ensembl chr26:5,222,902...5,248,191 		JBrowse link
G SH2D7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 48 ClinVar PMID:25741868 NCBI chr26:5,247,866...5,260,659
Ensembl chr26:5,249,265...5,260,145 		JBrowse link
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MARVELD2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 OMIM
ClinVar		 PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 More... NCBI chr 4:65,501,979...65,532,345
Ensembl chr 4:65,506,474...65,535,566 		JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 53 OMIM
ClinVar		 PMID:10677296 PMID:15558753 PMID:16033917 PMID:21204229 PMID:22246659 More... NCBI chr17:38,882,591...38,912,602
Ensembl chr17:38,882,745...38,911,625 		JBrowse link
autosomal recessive nonsyndromic deafness 57 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDZD7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 57 OMIM
ClinVar		 PMID:16199547 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 More... NCBI chr 9:94,026,036...94,049,043 JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PJVK pejvakin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 OMIM
ClinVar		 PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 More... NCBI chr10:64,004,113...64,013,025
Ensembl chr10:64,005,259...64,014,571 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr10:63,982,784...64,003,919 JBrowse link
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMIE transmembrane inner ear ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 | ClinVar Annotator: match by term: TMIE-related condition OMIM
ClinVar		 PMID:8593615 PMID:12145746 PMID:16389551 PMID:19438934 PMID:24033266 More... NCBI chr22:8,114,995...8,133,827 JBrowse link
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SLC26A5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 61 OMIM
ClinVar		 PMID:12239568 PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 More... NCBI chr21:72,347,276...72,418,311
Ensembl chr21:72,347,792...72,393,765 		JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANAPC15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 PMID:25788562 PMID:26467025 PMID:28492532 NCBI chr 1:63,313,971...63,317,170
Ensembl chr 1:63,314,274...63,315,664 		JBrowse link
G NUMA1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr 1:63,204,968...63,284,673
Ensembl chr 1:63,202,913...63,273,774 		JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCDC2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 66 OMIM
ClinVar		 PMID:16199547 PMID:16244493 PMID:23677054 PMID:23746548 PMID:25557784 More... NCBI chr17:47,880,282...48,065,686
Ensembl chr17:47,881,346...48,066,436 		JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LHFPL5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 67 | ClinVar Annotator: match by term: LHFPL5-related condition OMIM
ClinVar		 PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:27148795 More... NCBI chr17:36,295,612...36,313,964
Ensembl chr17:36,298,479...36,313,490 		JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1PR2 sphingosine-1-phosphate receptor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 68 OMIM
ClinVar		 PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26805784 More... NCBI chr 6:9,281,130...9,291,705
Ensembl chr 6:9,283,529...9,284,590 		JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:35802133 PMID:36633841 NCBI chr 5:20,184,525...20,278,438
Ensembl chr 5:20,198,412...20,278,433 		JBrowse link
G TMC1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7 OMIM
ClinVar		 PMID:9536098 PMID:11850618 PMID:16134132 PMID:16199547 PMID:16287143 More... NCBI chr12:83,672,786...83,883,985
Ensembl chr12:83,735,988...83,877,251 		JBrowse link
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PNPT1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 70 OMIM
ClinVar		 PMID:11080643 PMID:23084290 PMID:23084291 PMID:24088041 PMID:25326635 More... NCBI chr14:51,211,385...51,267,706
Ensembl chr14:51,211,118...51,267,098 		JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSRB3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 74 OMIM
ClinVar		 PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chr11:60,970,103...61,157,950
Ensembl chr11:60,969,985...61,154,356 		JBrowse link
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SYNE4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 76 OMIM
ClinVar		 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 More... NCBI chr 6:30,914,081...30,920,154
Ensembl chr 6:30,914,119...30,919,752 		JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16936105 PMID:17576681 PMID:19732867 More... NCBI chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532 		JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 79 ClinVar PMID:25741868 NCBI chr12:983,920...985,467
Ensembl chr12:983,946...984,623 		JBrowse link
G TPRN taperin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 79 OMIM
ClinVar		 PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:26969326 More... NCBI chr12:988,225...997,914 JBrowse link
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMPRSS3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: TMPRSS3-related condition OMIM
ClinVar		 PMID:3285355 PMID:9536098 PMID:11137999 PMID:11424922 PMID:11462234 More... NCBI chr 2:86,248,792...86,273,715
Ensembl chr 2:86,245,507...86,272,196 		JBrowse link
autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PTPRQ protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84 OMIM
ClinVar		 PMID:20346435 PMID:25741868 PMID:26467025 NCBI chr11:75,943,793...76,154,604
Ensembl chr11:75,943,260...76,154,083 		JBrowse link
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTOGL otogelin like ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 84b | ClinVar Annotator: match by term: OTOGL-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23122586 PMID:23850727 More... NCBI chr11:75,717,176...75,882,627
Ensembl chr11:75,729,405...75,881,334 		JBrowse link
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNF cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chr 5:2,302,249...2,336,188
Ensembl chr 5:2,302,341...2,335,270 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86 OMIM
ClinVar		 PMID:22211675 PMID:22277662 PMID:24033266 PMID:24387994 PMID:24729539 More... NCBI chr 5:2,353,543...2,378,950 JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELMOD3 ELMO domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 88 OMIM
ClinVar		 PMID:24039609 PMID:25741868 PMID:28492532 NCBI chr14:21,765,160...21,803,774 JBrowse link
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KARS1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 89 OMIM
ClinVar		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24033266 More... NCBI chr 5:61,113,215...61,133,093
Ensembl chr 5:61,113,213...61,132,995 		JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIFM1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:105,383,408...105,419,146
Ensembl chr  X:105,382,693...105,419,095 		JBrowse link
G CEP135 centrosomal protein 135 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:28866084 NCBI chr 7:12,585,566...12,668,476
Ensembl chr 7:12,585,791...12,664,888 		JBrowse link
G DIAPH1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr23:44,139,495...44,244,505
Ensembl chr23:44,139,360...44,244,490 		JBrowse link
G H1-4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:25741868 PMID:28475857 NCBI chr17:46,099,264...46,100,067
Ensembl chr17:46,099,330...46,099,986 		JBrowse link
G IGSF6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 5:20,161,470...20,173,337
Ensembl chr 5:20,162,102...20,172,714 		JBrowse link
G LOC103248666 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:18381613 PMID:25008054 PMID:28492532 PMID:33111345 NCBI chr 1:112,520,859...112,611,756
Ensembl chr 1:112,450,183...112,511,647
Ensembl chr 1:112,450,183...112,511,647 		JBrowse link
G METTL9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 5:20,128,112...20,177,591
Ensembl chr 5:20,128,176...20,175,564 		JBrowse link
G MSH6 mutS homolog 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr14:59,375,602...59,400,252
Ensembl chr14:59,375,691...59,400,174 		JBrowse link
G OPA1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:26467025 PMID:28492532 PMID:29952689 PMID:30201499 PMID:33884488 More... NCBI chr15:87,679,656...87,778,767
Ensembl chr15:87,679,077...87,779,102 		JBrowse link
G OTOA otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 5:20,184,525...20,278,438
Ensembl chr 5:20,198,412...20,278,433 		JBrowse link
G OTOF otoferlin ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder | ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition OMIM
ClinVar		 PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 More... NCBI chr14:81,080,077...81,187,769
Ensembl chr14:81,080,462...81,186,697 		JBrowse link
G PLP1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:91,671,535...91,687,693
Ensembl chr  X:91,671,878...91,687,878 		JBrowse link
G RAB33A RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:105,421,709...105,437,206
Ensembl chr  X:105,424,290...105,437,169 		JBrowse link
G RAB9B RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:91,716,741...91,727,167
Ensembl chr  X:91,719,610...91,720,212 		JBrowse link
G RAI1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 PMID:28492532 NCBI chr16:16,717,767...16,847,014
Ensembl chr16:16,760,189...16,849,346 		JBrowse link
G SLC17A8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:27068579 PMID:28492532 NCBI chr11:95,673,205...95,740,037
Ensembl chr11:95,674,195...95,739,040 		JBrowse link
G SLC52A2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 8:138,570,451...138,573,072
Ensembl chr 8:138,571,081...138,573,079 		JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 5:2,353,543...2,378,950 JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:24706558 PMID:24850488 PMID:24974158 PMID:25168210 PMID:25356970 More... NCBI chr 6:6,104,265...6,111,966
Ensembl chr 6:6,094,130...6,111,762 		JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SERPINB6 serpin family B member 6 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20451170 PMID:24033266 PMID:25741868 More... NCBI chr17:69,204,019...69,219,020
Ensembl chr17:69,207,684...69,219,016 		JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 93 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22981119 PMID:24033266 PMID:25741868 More... NCBI chr 1:6,741,202...6,744,931 JBrowse link
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NARS2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 | ClinVar Annotator: match by term: Deafness, autosomal recessive 94 OMIM
ClinVar		 PMID:25741868 PMID:25807530 PMID:28492532 NCBI chr 1:69,647,713...69,778,390
Ensembl chr 1:69,643,531...69,778,361 		JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MET MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 97 ClinVar
OMIM		 PMID:12920089 PMID:19318576 PMID:19723643 PMID:20139696 PMID:21774103 More... NCBI chr21:85,370,574...85,486,405
Ensembl chr21:85,397,645...85,488,093 		JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC103219967 thrombospondin-type laminin G domain and EAR repeat-containing protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 OMIM
ClinVar		 PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chr 2:88,219,663...88,425,531
Ensembl chr 2:88,221,529...88,287,701 		JBrowse link
G LOC119619413 keratin-associated protein 10-3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:25741868
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TMEM132E transmembrane protein 132E ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 99 OMIM
ClinVar		 PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr16:28,084,059...28,143,654
Ensembl chr16:28,130,442...28,142,561 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15285
    sensory system disease 6584
      Hearing Disorders 758
        Hearing Loss 752
          sensorineural hearing loss 570
            autosomal recessive nonsyndromic deafness 138
              Autosomal Recessive Nonsyndromic Deafness 117 1
              Autosomal Recessive Nonsyndromic Deafness 118 0
              Autosomal Recessive Nonsyndromic Deafness 119 1
              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 18 + 2
              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 2
              autosomal recessive nonsyndromic deafness 107 1
              autosomal recessive nonsyndromic deafness 108 1
              autosomal recessive nonsyndromic deafness 109 1
              autosomal recessive nonsyndromic deafness 110 0
              autosomal recessive nonsyndromic deafness 111 2
              autosomal recessive nonsyndromic deafness 112 1
              autosomal recessive nonsyndromic deafness 113 1
              autosomal recessive nonsyndromic deafness 114 1
              autosomal recessive nonsyndromic deafness 115 1
              autosomal recessive nonsyndromic deafness 116 1
              autosomal recessive nonsyndromic deafness 12 6
              autosomal recessive nonsyndromic deafness 13 0
              autosomal recessive nonsyndromic deafness 14 0
              autosomal recessive nonsyndromic deafness 15 1
              autosomal recessive nonsyndromic deafness 16 6
              autosomal recessive nonsyndromic deafness 17 0
              autosomal recessive nonsyndromic deafness 18A 1
              autosomal recessive nonsyndromic deafness 18B 1
              autosomal recessive nonsyndromic deafness 1A 10
              autosomal recessive nonsyndromic deafness 1B 8
              autosomal recessive nonsyndromic deafness 2 1
              autosomal recessive nonsyndromic deafness 20 0
              autosomal recessive nonsyndromic deafness 21 1
              autosomal recessive nonsyndromic deafness 22 5
              autosomal recessive nonsyndromic deafness 23 1
              autosomal recessive nonsyndromic deafness 24 1
              autosomal recessive nonsyndromic deafness 25 1
              autosomal recessive nonsyndromic deafness 26 1
              autosomal recessive nonsyndromic deafness 27 0
              autosomal recessive nonsyndromic deafness 28 2
              autosomal recessive nonsyndromic deafness 29 1
              autosomal recessive nonsyndromic deafness 3 2
              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 5
              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 2
              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 2
              autosomal recessive nonsyndromic deafness 65 0
              autosomal recessive nonsyndromic deafness 66 1
              autosomal recessive nonsyndromic deafness 67 1
              autosomal recessive nonsyndromic deafness 68 1
              autosomal recessive nonsyndromic deafness 7 2
              autosomal recessive nonsyndromic deafness 70 1
              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 2
              autosomal recessive nonsyndromic deafness 8 1
              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 1
              autosomal recessive nonsyndromic deafness 9 19
              autosomal recessive nonsyndromic deafness 91 1
              autosomal recessive nonsyndromic deafness 93 1
              autosomal recessive nonsyndromic deafness 94 1
              autosomal recessive nonsyndromic deafness 96 0
              autosomal recessive nonsyndromic deafness 97 1
              autosomal recessive nonsyndromic deafness 98 2
              autosomal recessive nonsyndromic deafness 99 1
Path 2
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  disease 15285
    Pathological Conditions, Signs and Symptoms 11816
      Signs and Symptoms 9793
        Neurologic Manifestations 9473
          sensory system disease 6584
            Otorhinolaryngologic Diseases 1644
              auditory system disease 930
                Hearing Disorders 758
                  Hearing Loss 752
                    Deafness 363
                      nonsyndromic deafness 209
                        autosomal recessive nonsyndromic deafness 138
                          Autosomal Recessive Nonsyndromic Deafness 117 1
                          Autosomal Recessive Nonsyndromic Deafness 118 0
                          Autosomal Recessive Nonsyndromic Deafness 119 1
                          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 18 + 2
                          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 2
                          autosomal recessive nonsyndromic deafness 107 1
                          autosomal recessive nonsyndromic deafness 108 1
                          autosomal recessive nonsyndromic deafness 109 1
                          autosomal recessive nonsyndromic deafness 110 0
                          autosomal recessive nonsyndromic deafness 111 2
                          autosomal recessive nonsyndromic deafness 112 1
                          autosomal recessive nonsyndromic deafness 113 1
                          autosomal recessive nonsyndromic deafness 114 1
                          autosomal recessive nonsyndromic deafness 115 1
                          autosomal recessive nonsyndromic deafness 116 1
                          autosomal recessive nonsyndromic deafness 12 6
                          autosomal recessive nonsyndromic deafness 13 0
                          autosomal recessive nonsyndromic deafness 14 0
                          autosomal recessive nonsyndromic deafness 15 1
                          autosomal recessive nonsyndromic deafness 16 6
                          autosomal recessive nonsyndromic deafness 17 0
                          autosomal recessive nonsyndromic deafness 18A 1
                          autosomal recessive nonsyndromic deafness 18B 1
                          autosomal recessive nonsyndromic deafness 1A 10
                          autosomal recessive nonsyndromic deafness 1B 8
                          autosomal recessive nonsyndromic deafness 2 1
                          autosomal recessive nonsyndromic deafness 20 0
                          autosomal recessive nonsyndromic deafness 21 1
                          autosomal recessive nonsyndromic deafness 22 5
                          autosomal recessive nonsyndromic deafness 23 1
                          autosomal recessive nonsyndromic deafness 24 1
                          autosomal recessive nonsyndromic deafness 25 1
                          autosomal recessive nonsyndromic deafness 26 1
                          autosomal recessive nonsyndromic deafness 27 0
                          autosomal recessive nonsyndromic deafness 28 2
                          autosomal recessive nonsyndromic deafness 29 1
                          autosomal recessive nonsyndromic deafness 3 2
                          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 5
                          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 2
                          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 2
                          autosomal recessive nonsyndromic deafness 65 0
                          autosomal recessive nonsyndromic deafness 66 1
                          autosomal recessive nonsyndromic deafness 67 1
                          autosomal recessive nonsyndromic deafness 68 1
                          autosomal recessive nonsyndromic deafness 7 2
                          autosomal recessive nonsyndromic deafness 70 1
                          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 2
                          autosomal recessive nonsyndromic deafness 8 1
                          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 1
                          autosomal recessive nonsyndromic deafness 9 19
                          autosomal recessive nonsyndromic deafness 91 1
                          autosomal recessive nonsyndromic deafness 93 1
                          autosomal recessive nonsyndromic deafness 94 1
                          autosomal recessive nonsyndromic deafness 96 0
                          autosomal recessive nonsyndromic deafness 97 1
                          autosomal recessive nonsyndromic deafness 98 2
                          autosomal recessive nonsyndromic deafness 99 1
paths to the root