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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:Hearing Disorders
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Accession:DOID:9002500 term browser browse the term
Definition:Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways.
Synonyms:exact_synonym: Distorted Hearing;   Dysacusis;   Hearing Disorder;   Paracousis;   Paracusis
 primary_id: MESH:D006311


show annotations for term's descendants           Sort by:
Hearing Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nipbl NIPBL, cohesin loading factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19763162 NCBI chr 2:59,126,676...59,314,841
Ensembl chr 2:59,126,676...59,293,277 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25554729 NCBI chr 3:81,982,669...82,002,028
Ensembl chr 3:81,982,673...82,001,525 		JBrowse link
G Srrm4 serine/arginine repetitive matrix 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17613114 NCBI chr12:45,659,729...45,819,643
Ensembl chr12:45,660,450...45,816,475 		JBrowse link
G Ttpa alpha tocopherol transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 5:38,294,415...38,315,471
Ensembl chr 5:38,292,665...38,315,804 		JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:148,450,207...148,696,239 		JBrowse link
G Serac1 serine active site containing 1 ISO
ISS 		ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: SERAC1-related disorder | ClinVar Annotator: match by term: SERAC1-related neurological disorder
OMIM:614739 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22683713 PMID:23707711 More... NCBI chr 1:49,025,845...49,061,853
Ensembl chr 1:49,025,845...49,061,853 		JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Abruzzo-Erickson syndrome | ClinVar Annotator: match by term: TBX22-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:839509 PMID:14729838 PMID:22784330 PMID:25741868 PMID:28492532 NCBI chr  X:76,796,398...76,847,447
Ensembl chr  X:76,825,005...76,847,443 		JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of | ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr 7:118,849,586...118,866,190
Ensembl chr 7:118,849,600...118,867,539 		JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1664177 PMID:3278127 PMID:6243137 PMID:7593598 PMID:8253776 More... NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:108,920,651...108,942,711 		JBrowse link
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:601536
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome
DNA:mutations:cds:185delG,175-176insG,76C>T(human) 		CTD
MouseDO
ClinVar
OMIM
RGD		 PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 More... RGD:11553818 NCBI chr 4:82,586,505...82,589,209
Ensembl chr 4:82,586,505...82,589,209 		JBrowse link
Auditory Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599 		JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:28492532 NCBI chr18:8,051,097...8,265,288
Ensembl chr18:8,051,097...8,265,288 		JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 PMID:28492532 NCBI chr15:68,951,992...69,421,623
Ensembl chr15:68,951,989...69,421,552 		JBrowse link
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 PMID:28965846 PMID:29040572 NCBI chr10:101,006,845...101,015,582
Ensembl chr10:101,006,849...101,015,542 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 7:64,937,210...64,974,339
Ensembl chr 7:64,934,740...64,978,272 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 5:163,587,463...163,617,363
Ensembl chr 5:163,587,463...163,618,495 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 NCBI chr 7:11,783,550...11,834,585
Ensembl chr 7:11,784,272...11,834,778 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:18381613 PMID:19250381 PMID:22575033 PMID:25741868 PMID:26818607 More... NCBI chr 6:31,647,869...31,744,476
Ensembl chr 6:31,647,914...31,744,476 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 3:160,959,233...160,976,170
Ensembl chr 3:160,965,302...160,974,692 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30634948 NCBI chr  X:102,011,206...102,015,444
Ensembl chr  X:102,011,206...102,015,444 		JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr12:47,599,161...47,638,143
Ensembl chr12:47,599,035...47,638,143 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30818899 NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:253,817,564...253,824,162 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
AURONEURODENTAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit ISO OMIM NCBI chr 8:117,132,957...117,136,207
Ensembl chr 8:117,133,494...117,136,207 		JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph3 diaphanous-related formin 3 ISO
ISS 		ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition
OMIM:609129
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 More... NCBI chr15:68,951,992...69,421,623
Ensembl chr15:68,951,989...69,421,552 		JBrowse link
Autosomal Dominant Auditory Neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO OMIM NCBI chr16:83,359,884...83,469,807
Ensembl chr16:83,359,884...83,469,767 		JBrowse link
autosomal dominant auditory neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar		 PMID:18230648 PMID:20435227 PMID:21214875 PMID:21270786 PMID:21391237 More... NCBI chr 4:125,534,844...125,549,986
Ensembl chr 4:125,534,813...125,549,988 		JBrowse link
autosomal dominant cerebellar ataxia, deafness and narcolepsy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt1 DNA methyltransferase 1 ISO ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy | ClinVar Annotator: match by term: DNMT1-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:27,716,797...27,763,119 		JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO
ISS 		ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
OMIM:124480
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:24913193 PMID:25741868 PMID:28396750 PMID:30311386 PMID:31581539 More... NCBI chr16:25,384,254...25,408,388
Ensembl chr16:25,384,257...25,408,839 		JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human) 		OMIM
CTD
ClinVar
RGD		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr14:5,870,232...5,876,339
Ensembl chr14:5,870,232...5,876,339 		JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO
ISS 		p.S17F(mouse)
ClinVar Annotator: match by term: KID SYNDROME, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant
OMIM:148210
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.D50N (human)
p.G45E(mouse)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr10:1,022,041...1,162,431
Ensembl chr10:1,038,947...1,162,404 		JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss ClinVar PMID:25741868 PMID:33111345 NCBI chr 4:95,241,933...95,244,028
Ensembl chr 4:95,241,933...95,244,019 		JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:148,450,207...148,696,239 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr12:38,716,668...38,731,285
Ensembl chr12:38,716,668...38,731,265 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr18:73,093,142...73,245,784
Ensembl chr18:73,093,142...73,245,784 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:131,965,714...132,177,790 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:15015131 PMID:15845534 PMID:25741868 NCBI chr 1:104,232,778...104,295,369
Ensembl chr 1:104,232,778...104,323,404 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:89,967,377...90,122,215 		JBrowse link
G P2rx2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:30311386 NCBI chr12:51,999,107...52,002,627
Ensembl chr12:51,999,372...52,002,627 		JBrowse link
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:29860631 NCBI chr 4:86,629,074...87,108,147
Ensembl chr 4:86,626,282...87,193,259 		JBrowse link
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:30872814 PMID:31397523 NCBI chr 8:105,196,312...105,306,252
Ensembl chr 8:105,197,455...105,292,447 		JBrowse link
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 PMID:34828371 NCBI chr14:31,213,415...31,233,451
Ensembl chr14:31,213,415...31,248,662 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:97,482,617...97,487,853 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss ClinVar PMID:11295831 PMID:12955714 PMID:16648378 PMID:17492394 PMID:17603484 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: DIAPH1-related condition | ClinVar Annotator: match by term: KONIGSMARK SYNDROME
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr18:29,920,889...30,020,280
Ensembl chr18:29,920,889...30,020,280 		JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar PMID:28492532 NCBI chr18:27,583,791...27,593,184
Ensembl chr18:27,583,195...27,593,195 		JBrowse link
G Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar PMID:28492532 NCBI chr18:28,540,324...28,542,070
Ensembl chr18:28,540,058...28,542,061 		JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 10 | ClinVar Annotator: match by term: EYA4-Related Disorders
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:11159937 PMID:15735644 PMID:17567890 PMID:17576681 More... NCBI chr 1:23,991,431...24,235,132
Ensembl chr 1:23,991,431...24,235,131 		JBrowse link
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 11
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO
ISS 		OMIM:601543
CTD Direct Evidence: marker/mechanism 		OMIM
MouseDO
CTD		 NCBI chr 8:51,604,974...51,676,745
Ensembl chr 8:51,604,975...51,676,722 		JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO
ISS 		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 13
OMIM:601868
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:10581026 PMID:10677296 PMID:15372529 PMID:16033917 PMID:16199547 More... NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU class 4 homeobox 3 ISO
ISS 		OMIM:602459 OMIM
MouseDO		 NCBI chr18:34,641,191...34,643,783
Ensembl chr18:34,641,191...34,643,783 		JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 NCBI chr 3:128,785,817...128,811,773
Ensembl chr 3:128,789,290...128,808,023 		JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:10603121 More... NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: ACTG1-related disorder | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 20
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		JBrowse link
autosomal dominant nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripor2 RHO family interacting cell polarization regulator 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 21 		OMIM
CTD
ClinVar		 PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 NCBI chr17:40,751,771...40,975,611
Ensembl chr17:40,751,771...40,975,337 		JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bin1 bridging integrator 1 ISO ClinVar Annotator: match by term: DFNA 22 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr18:24,282,840...24,341,461
Ensembl chr18:24,283,801...24,341,458 		JBrowse link
G Myo6 myosin VI ISO
ISS 		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22
OMIM:606346 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:89,967,377...90,122,215 		JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 23
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:97,482,617...97,487,853 		JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a8 solute carrier family 17 member 8 ISO
ISS 		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 25 | ClinVar Annotator: match by term: SLC17A8-related condition
OMIM:605583
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr 7:25,881,557...25,936,837
Ensembl chr 7:25,881,557...25,935,410 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISS OMIM:605583 MouseDO NCBI chr12:47,599,161...47,638,143
Ensembl chr12:47,599,035...47,638,143 		JBrowse link
autosomal dominant nonsyndromic deafness 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 27 | ClinVar Annotator: match by term: Deafness, autosomal dominant 27 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 NCBI chr14:31,213,415...31,233,451
Ensembl chr14:31,213,415...31,248,662 		JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead-like transcription factor 2 ISO DNA:nonsense mutation:exon:
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 28
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1599382 NCBI chr 7:70,280,360...70,415,277
Ensembl chr 7:70,285,310...70,415,274 		JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 More... NCBI chr 5:139,560,366...139,612,212
Ensembl chr 5:139,560,366...139,612,102 		JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 2B 		CTD
ClinVar
OMIM		 PMID:9843210 PMID:10798362 PMID:12019212 PMID:16077902 PMID:19050930 More... NCBI chr 5:144,933,692...144,939,435
Ensembl chr 5:144,933,696...144,940,280 		JBrowse link
autosomal dominant nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 30 ClinVar PMID:32519820 NCBI chr17:89,451,567...89,667,654
Ensembl chr17:89,451,567...89,667,654 		JBrowse link
autosomal dominant nonsyndromic deafness 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr16:83,359,884...83,469,807
Ensembl chr16:83,359,884...83,469,767 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION | ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation OMIM
ClinVar		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:12522564 More... NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,828,014...44,853,394 		JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc1 transmembrane channel-like 1 ISO
ISS 		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 36 | ClinVar Annotator: match by term: TMC1-related condition
OMIM:606705
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11850618 PMID:15354000 PMID:15605408 PMID:16134132 More... NCBI chr 1:227,701,781...227,872,534
Ensembl chr 1:227,701,781...227,872,534 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 36 ClinVar NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
autosomal dominant nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 | ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar
OMIM		 PMID:9536098 PMID:10486316 PMID:16199547 PMID:17576681 PMID:17999364 More... NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr 5:144,948,231...144,964,014
Ensembl chr 5:144,951,184...144,964,097 		JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 3B
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr15:35,400,147...35,410,649
Ensembl chr15:35,398,770...35,410,849 		JBrowse link
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crym crystallin, mu ISO ClinVar Annotator: match by term: CRYM-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 40 OMIM
ClinVar		 PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:183,991,752...184,006,923
Ensembl chr 1:183,991,745...184,006,962 		JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2rx2 purinergic receptor P2X 2 ISO
ISS 		ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition
OMIM:608224
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chr12:51,999,107...52,002,627
Ensembl chr12:51,999,372...52,002,627 		JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc50 coiled-coil domain containing 50 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 44 | ClinVar Annotator: match by term: CCDC50-related condition
CTD Direct Evidence: marker/mechanism
DNA:duplication:cds:c.1394_1401dupCACGGCAT(human) 		OMIM
ClinVar
CTD
RGD		 PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 More... RGD:9685138 NCBI chr11:86,837,624...86,900,164
Ensembl chr11:86,837,624...86,899,980 		JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 48
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chr 7:65,424,206...65,443,227
Ensembl chr 7:65,428,258...65,443,213 		JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISS OMIM:600652 MouseDO NCBI chr 1:88,642,925...88,652,821
Ensembl chr 1:88,642,925...88,652,821 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 4A | ClinVar Annotator: match by term: Deafness, autosomal dominant 4A | ClinVar Annotator: match by term: MYH14-related condition OMIM
ClinVar		 PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr 1:104,232,778...104,295,369
Ensembl chr 1:104,232,778...104,323,404 		JBrowse link
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO OMIM NCBI chr 1:88,642,925...88,652,821
Ensembl chr 1:88,642,925...88,652,821 		JBrowse link
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsdme gasdermin E ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 5 | ClinVar Annotator: match by term: GSDME-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7427029 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17427029 More... NCBI chr 4:80,590,344...80,651,943
Ensembl chr 4:80,588,614...80,641,525 		JBrowse link
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir96 microRNA 96 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 50 | ClinVar Annotator: match by term: MIR96-related condition OMIM
ClinVar		 PMID:14757864 PMID:19363479 PMID:24033266 NCBI chr 4:59,755,841...59,755,946 JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: CHROMOSOME 9q21.11 DUPLICATION SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar PMID:20602916 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 1:231,136,218...231,264,750
Ensembl chr 1:231,136,243...231,264,750 		JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnc tenascin C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition OMIM
ClinVar		 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29531218 More... NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:82,391,340...82,476,131 		JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1161832 PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diablo diablo, IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 64 | ClinVar Annotator: match by term: DIABLO-related condition OMIM
ClinVar		 PMID:21722859 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:38,716,668...38,731,285
Ensembl chr12:38,716,668...38,731,265 		JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:23526554 PMID:23806086 PMID:24033266 More... NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,714,833...13,740,473 		JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd164 CD164 molecule ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 | ClinVar Annotator: match by term: CD164-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26197441 PMID:28492532 NCBI chr20:46,606,439...46,618,015
Ensembl chr20:46,606,107...46,638,649 		JBrowse link
autosomal dominant nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Osbpl2 oxysterol binding protein-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 67 | ClinVar Annotator: match by term: OSBPL2-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25759012 PMID:26467025 PMID:28492532 NCBI chr 3:187,585,372...187,633,827
Ensembl chr 3:187,606,937...187,639,730 		JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 68 | ClinVar Annotator: match by term: HOMER2-related condition OMIM
ClinVar		 PMID:25741868 PMID:25816005 PMID:26467025 PMID:28492532 PMID:30047143 More... NCBI chr 1:144,968,207...145,069,022
Ensembl chr 1:144,976,436...145,068,997 		JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitlg KIT ligand ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 69 | ClinVar Annotator: match by term: Deafness, autosomal dominant 69, unilateral or asymmetric OMIM
ClinVar		 PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 NCBI chr 7:36,782,621...36,863,796
Ensembl chr 7:36,782,638...36,863,793 		JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1a LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 7 | ClinVar Annotator: match by term: LMX1A-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 PMID:29754270 PMID:30311386 PMID:32840933 PMID:35711095 More... NCBI chr13:82,367,493...82,511,157
Ensembl chr13:82,367,933...82,511,154 		JBrowse link
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 70 | ClinVar Annotator: match by term: MCM2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26196677 PMID:26467025 PMID:28492532 PMID:29706348 More... NCBI chr 4:122,903,679...122,918,205
Ensembl chr 4:122,903,682...122,918,094 		JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 71 | ClinVar Annotator: match by term: Deafness, autosomal dominant 71 OMIM
ClinVar		 PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 More... NCBI chr 8:63,637,314...63,803,911
Ensembl chr 8:63,637,314...63,781,116 		JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a4 solute carrier family 44, member 4 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 72 | ClinVar Annotator: match by term: Deafness, autosomal dominant 72 | ClinVar Annotator: match by term: SLC44A4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chr20:3,907,737...3,923,911
Ensembl chr20:3,907,737...3,923,854 		JBrowse link
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 PMID:30311386 PMID:31655630 NCBI chr 7:44,720,916...44,903,291
Ensembl chr 7:44,720,916...44,903,291 		JBrowse link
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 74 | ClinVar Annotator: match by term: Deafness, autosomal dominant 74 | ClinVar Annotator: match by term: PDE1C-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29860631 NCBI chr 4:86,629,074...87,108,147
Ensembl chr 4:86,626,282...87,193,259 		JBrowse link
autosomal dominant nonsyndromic deafness 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trrap transformation/transcription domain-associated protein ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 75 | ClinVar Annotator: match by term: Deafness, autosomal dominant 75 OMIM
ClinVar		 PMID:9708738 PMID:11418595 PMID:12138177 PMID:12660246 PMID:12743606 More... NCBI chr12:14,851,758...14,941,444
Ensembl chr12:14,851,758...14,941,407 		JBrowse link
autosomal dominant nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 76 | ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition OMIM
ClinVar		 PMID:25124451 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 More... NCBI chr 8:105,196,312...105,306,252
Ensembl chr 8:105,197,455...105,292,447 		JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: ABCC1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31273342 NCBI chr10:1,022,041...1,162,431
Ensembl chr10:1,038,947...1,162,404 		JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 78 | ClinVar Annotator: match by term: Deafness, autosomal dominant 78 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30311386 PMID:30740830 PMID:32294086 More... NCBI chr18:53,546,263...53,614,478
Ensembl chr18:53,546,333...53,614,470 		JBrowse link
autosomal dominant nonsyndromic deafness 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 80 | ClinVar Annotator: match by term: Deafness, autosomal dominant 80 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29955957 PMID:30311386 NCBI chr18:1,665,468...1,902,291
Ensembl chr18:1,766,214...1,900,178 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
autosomal dominant nonsyndromic deafness 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 81 | ClinVar Annotator: match by term: ELMOD3-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29713870 NCBI chr 4:106,172,819...106,211,286
Ensembl chr 4:106,172,828...106,211,229 		JBrowse link
autosomal dominant nonsyndromic deafness 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30535804 NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:148,450,207...148,696,239 		JBrowse link
autosomal dominant nonsyndromic deafness 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map1b microtubule-associated protein 1B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 83 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33268592 NCBI chr 2:32,551,423...32,644,471
Ensembl chr 2:32,551,423...32,657,094 		JBrowse link
autosomal dominant nonsyndromic deafness 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar
OMIM		 PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr16:83,359,884...83,469,807
Ensembl chr16:83,359,884...83,469,767 		JBrowse link
autosomal dominant nonsyndromic deafness 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 85 OMIM
ClinVar		 PMID:25741868 PMID:34059922 NCBI chr 5:155,083,520...155,151,208
Ensembl chr 5:155,083,587...155,151,208 		JBrowse link
autosomal dominant nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thoc1 THO complex subunit 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 86 OMIM
ClinVar		 PMID:25741868 PMID:32776944 NCBI chr18:1,253,041...1,291,956
Ensembl chr18:1,256,637...1,292,630 		JBrowse link
autosomal dominant nonsyndromic deafness 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 87 | ClinVar Annotator: match by term: PI4KB-related condition ClinVar
OMIM		 PMID:33358777 NCBI chr 2:185,229,392...185,261,697
Ensembl chr 2:185,228,799...185,261,693 		JBrowse link
autosomal dominant nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha10 EPH receptor A10 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 88 OMIM
ClinVar		 PMID:25741868 NCBI chr 5:142,424,260...142,460,305
Ensembl chr 5:142,424,296...142,460,305 		JBrowse link
autosomal dominant nonsyndromic deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: ATOH1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 89 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33111345 NCBI chr 4:95,241,933...95,244,028
Ensembl chr 4:95,241,933...95,244,019 		JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO
ISS 		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 9 | ClinVar Annotator: match by term: COCH-related condition
OMIM:601369
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:16078052 PMID:25741868 PMID:32562050 NCBI chr 6:74,766,485...74,780,504
Ensembl chr 6:74,766,419...74,780,502 		JBrowse link
autosomal dominant nonsyndromic deafness 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 90 OMIM
ClinVar		 PMID:25741868 PMID:26841241 PMID:28492532 PMID:29880844 PMID:34788109 NCBI chr17:89,451,567...89,667,654
Ensembl chr17:89,451,567...89,667,654 		JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr17:51,945,975...52,040,218
Ensembl chr17:51,946,701...52,037,257 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1161832 PMID:3126496 PMID:3478949 PMID:9536098 PMID:9771706 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Distal Renal Tubular Acidosis, Recessive | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10973252 PMID:12414817 PMID:16199547 PMID:16611712 More... NCBI chr 4:67,727,145...67,809,092
Ensembl chr 4:67,727,145...67,809,092 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 4:117,781,444...117,800,103
Ensembl chr 4:117,781,444...117,800,103 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO RGD PMID:17409310 RGD:13208934 NCBI chr10:87,807,010...87,823,274
Ensembl chr10:87,807,013...87,823,258 		JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISS OMIM:607197 MouseDO NCBI chr 4:117,781,444...117,800,103
Ensembl chr 4:117,781,444...117,800,103 		JBrowse link
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 PMID:16935888 More... NCBI chr 5:126,480,590...126,489,389
Ensembl chr 5:126,480,592...126,489,389 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr 1:210,804,111...210,809,941
Ensembl chr 1:210,804,096...210,809,940 		JBrowse link
G Cdh23 cadherin-related 23 ISO DNA:missense mutations:multiple
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 chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23023331 PMID:24033266 PMID:25741868 PMID:26214305 PMID:26426422 More... NCBI chr 8:63,826,410...63,843,301
Ensembl chr 8:63,826,411...63,843,277 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 5:158,974,190...158,989,275
Ensembl chr 5:158,974,193...158,989,128 		JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 9:24,208,455...24,310,964
Ensembl chr 9:24,208,456...24,358,780 		JBrowse link
G Dysf dysferlin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:28492532 NCBI chr 4:118,048,460...118,248,273
Ensembl chr 4:118,047,989...118,248,273 		JBrowse link
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr 4:172,119,497...172,291,670
Ensembl chr 4:172,119,497...172,218,160 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:167,909,271...167,942,984 		JBrowse link
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 NCBI chr 6:111,738,662...111,894,087
Ensembl chr 6:111,738,662...111,894,087 		JBrowse link
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 7:9,026,905...9,034,005
Ensembl chr 7:9,026,905...9,034,795 		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 chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr 5:144,933,692...144,939,435
Ensembl chr 5:144,933,696...144,940,280 		JBrowse link
G Gpr156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:37814107 NCBI chr11:76,228,104...76,320,890
Ensembl chr11:76,228,104...76,320,890 		JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20602914 PMID:22578326 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr 2:199,015,250...199,063,788
Ensembl chr 2:199,015,250...199,063,056 		JBrowse link
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20137778 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr14:40,358,077...40,480,493
Ensembl chr14:40,358,077...40,480,493 		JBrowse link
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr18:34,235,734...34,249,139
Ensembl chr18:34,235,734...34,371,894 		JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:15641023 PMID:21255762 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr11:77,591,146...77,624,268
Ensembl chr11:77,569,621...77,624,140 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:30252186 More... NCBI chr19:56,867,096...56,886,151
Ensembl chr19:56,867,096...56,886,073 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:87,334,216...87,368,678 		JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 More... NCBI chr20:6,634,058...6,644,264
Ensembl chr20:6,633,979...6,644,657 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:24033266 PMID:25741868 More... NCBI chr18:73,093,142...73,245,784
Ensembl chr18:73,093,142...73,245,784 		JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:165,678,654...165,680,703
Ensembl chr 1:165,678,654...165,680,703 		JBrowse link
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:24033266 PMID:30303587 NCBI chr 2:33,474,750...33,498,225
Ensembl chr 2:33,462,950...33,498,077 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:21270786 PMID:25741868 PMID:27981572 PMID:28492532 PMID:29961571 More... NCBI chr 8:54,244,920...54,256,064
Ensembl chr 8:54,243,556...54,256,074 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chr 7:58,188,827...58,311,459
Ensembl chr 7:57,968,124...58,311,116 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:16199547 PMID:17546645 PMID:17576681 PMID:19309289 More... NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,776,907...45,835,473 		JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 NCBI chr17:89,451,567...89,667,654
Ensembl chr17:89,451,567...89,667,654 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:89,967,377...90,122,215 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		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 1:185,074,271...185,142,149
Ensembl chr 1:185,074,268...185,141,658 		JBrowse link
G Otof otoferlin ISO DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive 		ClinVar
RGD		 PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:19461658 More... RGD:9479154 NCBI chr 6:31,647,869...31,744,476
Ensembl chr 6:31,647,914...31,744,476 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 PMID:30311386 NCBI chr 1:105,882,747...105,951,825
Ensembl chr 1:105,882,747...105,951,824 		JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 7:44,952,633...45,097,869
Ensembl chr 7:44,953,399...45,110,055 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:20440071 PMID:25741868 PMID:28492532 PMID:29048736 PMID:30311386 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		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 chr 3:82,002,106...82,012,273
Ensembl chr 3:82,002,368...82,012,451 		JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 PMID:30311386 NCBI chr 7:44,720,916...44,903,291
Ensembl chr 7:44,720,916...44,903,291 		JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 NCBI chr 8:61,275,792...61,348,260
Ensembl chr 8:61,274,460...61,333,967 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr 6:53,835,102...53,873,968
Ensembl chr 6:53,835,110...53,873,216 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar NCBI chr 4:14,102,492...14,141,520
Ensembl chr 4:14,102,492...14,141,847 		JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 More... NCBI chr 1:227,701,781...227,872,534
Ensembl chr 1:227,701,781...227,872,534 		JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 More... NCBI chr 8:119,728,123...119,743,219
Ensembl chr 8:119,728,313...119,743,219 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:17551081 More... NCBI chr20:9,253,497...9,275,167
Ensembl chr20:9,255,467...9,275,720 		JBrowse link
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISS OMIM:607197 MouseDO NCBI chr15:106,406,795...106,463,226
Ensembl chr15:106,407,597...106,463,210 		JBrowse link
G Togaram2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:20642360 PMID:38374469 NCBI chr 6:29,491,183...29,549,004
Ensembl chr 6:29,491,040...29,548,977 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20170899 PMID:30303587 NCBI chr 3:28,474,322...28,481,800
Ensembl chr 3:28,473,620...28,482,117 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16385457 PMID:16385458 PMID:20510926 PMID:24033266 PMID:25741868 More... NCBI chr 7:112,386,371...112,452,130
Ensembl chr 7:112,386,420...112,442,924 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:25741868 PMID:30303587 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 100 | ClinVar Annotator: match by term: PPIP5K2-related condition OMIM
ClinVar		 PMID:15538632 PMID:25741868 PMID:29590114 NCBI chr 9:105,727,906...105,838,159
Ensembl chr 9:105,727,911...105,838,157 		JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 101 | ClinVar Annotator: match by term: GRXCR2-related condition OMIM
ClinVar		 PMID:24619944 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr18:34,235,734...34,249,139
Ensembl chr18:34,235,734...34,371,894 		JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 102 | ClinVar Annotator: match by term: EPS8-related condition OMIM
ClinVar		 PMID:24033266 PMID:24741995 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 4:172,119,497...172,291,670
Ensembl chr 4:172,119,497...172,218,160 		JBrowse link
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: CLIC5-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 103 OMIM
ClinVar		 PMID:24033266 PMID:24781754 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 9:24,208,455...24,310,964
Ensembl chr 9:24,208,456...24,358,780 		JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		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 chr17:40,751,771...40,975,611
Ensembl chr17:40,751,771...40,975,337 		JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:172,119,497...172,291,670
Ensembl chr 4:172,119,497...172,218,160 		JBrowse link
G Eps8l2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 106 | ClinVar Annotator: match by term: Deafness, autosomal recessive 106 | ClinVar Annotator: match by term: EPS8L2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26282398 PMID:28281779 More... NCBI chr 1:205,875,825...205,901,109
Ensembl chr 1:205,875,801...205,901,101 		JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 107 | ClinVar Annotator: match by term: WBP2-related condition OMIM
ClinVar		 PMID:25741868 PMID:26881968 PMID:28492532 NCBI chr10:101,811,308...101,819,766
Ensembl chr10:101,812,321...101,819,770 		JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ror1 receptor tyrosine kinase-like orphan receptor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 108 | ClinVar Annotator: match by term: ROR1-related condition OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:27162350 PMID:28492532 NCBI chr 5:119,859,744...120,203,573
Ensembl chr 5:119,859,970...120,205,801 		JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 109 ClinVar PMID:8938442 PMID:9671269 PMID:9837819 PMID:10502777 PMID:11857545 More... NCBI chr16:76,654,725...76,726,092
Ensembl chr16:76,653,660...76,728,801 		JBrowse link
G Esrp1 epithelial splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 109 | ClinVar Annotator: match by term: ESRP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29107558 NCBI chr 5:29,224,831...29,279,381
Ensembl chr 5:29,225,360...29,279,278 		JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 110 OMIM
ClinVar		 PMID:25741868 NCBI chr 6:74,766,485...74,780,504
Ensembl chr 6:74,766,419...74,780,502 		JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpzl2 myelin protein zero-like 2 ISO
ISS 		OMIM:618145
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
MouseDO
ClinVar		 PMID:21270786 PMID:25741868 PMID:27981572 PMID:28492532 PMID:29961571 More... NCBI chr 8:54,244,920...54,256,064
Ensembl chr 8:54,243,556...54,256,074 		JBrowse link
autosomal recessive nonsyndromic deafness 112 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdp1 BDP1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: BDP1-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 112 | ClinVar Annotator: match by term: Deafness, autosomal recessive 112 OMIM
ClinVar		 PMID:24312468 PMID:25741868 PMID:26467025 NCBI chr 2:33,112,518...33,204,270
Ensembl chr 2:33,112,518...33,204,241 		JBrowse link
autosomal recessive nonsyndromic deafness 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO OMIM NCBI chr 1:88,642,925...88,652,821
Ensembl chr 1:88,642,925...88,652,821 		JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grap GRB2-related adaptor protein ISO ClinVar Annotator: match by term: Hearing loss, autosomal recessive 114 OMIM
ClinVar		 PMID:25741868 PMID:30610177 NCBI chr10:46,798,423...46,851,524
Ensembl chr10:46,832,390...46,851,523 		JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Hearing loss, autosomal recessive 115 | ClinVar Annotator: match by term: SPNS2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:57,565,909...57,604,546
Ensembl chr10:57,565,909...57,604,498 		JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: CLDN9-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 116 OMIM
ClinVar		 PMID:25741868 PMID:30311386 PMID:31175426 PMID:34265170 PMID:35802133 More... NCBI chr10:13,218,728...13,220,159
Ensembl chr10:13,218,729...13,220,178 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn2 clarin 2 ISO ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 OMIM
ClinVar		 PMID:25741868 PMID:33496845 PMID:38243601 NCBI chr14:69,868,556...69,878,850
Ensembl chr14:69,868,556...69,878,850 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: AFG2B-related disorder | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar		 PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 PMID:37902276 More... NCBI chr 3:130,148,061...130,162,458
Ensembl chr 3:130,148,301...130,162,112 		JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2B2-related condition | ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:15829536 PMID:22047666 PMID:25741868 PMID:26467025 PMID:27535533 More... NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:148,450,207...148,696,239 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr20:28,876,519...28,880,120
Ensembl chr20:28,876,451...28,880,493 		JBrowse link
G Cdh23 cadherin-related 23 ISO
ISS 		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12
ClinVar Annotator: match by term: ATP2B2-related disorder | 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 chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		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 chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 120 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Minar2 membrane integral NOTCH2 associated receptor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 OMIM
ClinVar		 PMID:35727972 NCBI chr18:54,737,670...54,752,388
Ensembl chr18:54,737,662...54,752,384 		JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chr10:44,273,686...44,419,275
Ensembl chr10:44,288,866...44,419,297 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 121 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 121 OMIM
ClinVar		 PMID:25741868 PMID:37814107 NCBI chr11:76,228,104...76,320,890
Ensembl chr11:76,228,104...76,320,890 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 122 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 122 OMIM
ClinVar		 PMID:37943620 NCBI chr15:106,406,795...106,463,226
Ensembl chr15:106,407,597...106,463,210 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 123 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx4 syntaxin 4 ISO OMIM NCBI chr 1:191,880,549...191,890,333
Ensembl chr 1:191,881,559...191,896,774 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 124 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1l1 PKHD1 like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 | ClinVar Annotator: match by term: PKHD1L1-related disorder ClinVar
OMIM		 PMID:38459354 NCBI chr 7:77,505,063...77,679,994
Ensembl chr 7:77,505,152...77,679,994 		JBrowse link
autosomal recessive nonsyndromic deafness 125 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gas2 growth arrest-specific 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 125 OMIM
ClinVar		 PMID:33964205 NCBI chr 1:110,587,952...110,721,572
Ensembl chr 1:110,717,312...110,718,541 		JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 | ClinVar Annotator: match by term: GIPC3-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:23510777 More... NCBI chr 7:9,026,905...9,034,005
Ensembl chr 7:9,026,905...9,034,795 		JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strc stereocilin ISO
ISS 		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 16 | ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition
OMIM:603720
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:11687802 PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 More... NCBI chr 3:128,785,817...128,811,773
Ensembl chr 3:128,789,290...128,808,023 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		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
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
OMIM:602092 		OMIM
ClinVar
MouseDO
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:8694458 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18A ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otog otogelin ISO
ISS 		ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition
OMIM:614945 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More... NCBI chr 1:105,882,747...105,951,825
Ensembl chr 1:105,882,747...105,951,824 		JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:15994881 PMID:17041943 PMID:18324688 PMID:20236118 PMID:28492532 NCBI chr15:35,542,628...35,661,563
Ensembl chr15:35,542,628...35,661,563 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:19894250 PMID:25741868 PMID:29572252 PMID:30820731 PMID:30871974 More... NCBI chr 2:41,380,901...41,418,294
Ensembl chr 2:41,380,901...41,418,294 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO
ISS 		ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
OMIM:220290
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 		CTD
ClinVar
OMIM		 PMID:10798362 PMID:12791041 PMID:19050930 PMID:24033266 PMID:25741868 More... NCBI chr 5:144,933,692...144,939,435
Ensembl chr 5:144,933,696...144,940,280 		JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr 5:144,948,231...144,964,014
Ensembl chr 5:144,951,184...144,964,097 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO
ISS 		ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
OMIM:220290
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr15:35,400,147...35,410,649
Ensembl chr15:35,398,770...35,410,849 		JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:3 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 More... NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 1B | ClinVar Annotator: match by term: Deafness, autosomal recessive 1b
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr15:35,400,147...35,410,649
Ensembl chr15:35,398,770...35,410,849 		JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO
ISS 		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 		OMIM
ClinVar
MouseDO
CTD		 PMID:3130723 PMID:3442652 PMID:7568224 PMID:7870171 PMID:7951250 More... NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 ClinVar PMID:10700480 PMID:11932316 PMID:14508505 PMID:16570074 PMID:16950989 More... NCBI chr 6:53,835,102...53,873,968
Ensembl chr 6:53,835,110...53,873,216 		JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr 8:51,604,974...51,676,745
Ensembl chr 8:51,604,975...51,676,722 		JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otoa otoancorin ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 22 | ClinVar Annotator: match by term: OTOA-related condition
OMIM:607039
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 More... NCBI chr 1:185,074,271...185,142,149
Ensembl chr 1:185,074,268...185,141,658 		JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 23
OMIM:609533
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 23 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:37732247 PMID:39333091 NCBI chr 8:128,098,613...128,196,515
Ensembl chr 8:128,098,613...128,196,470 		JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rdx radixin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 24 | ClinVar Annotator: match by term: RDX-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 8:61,275,792...61,348,260
Ensembl chr 8:61,274,460...61,333,967 		JBrowse link
autosomal recessive nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 25 | ClinVar Annotator: match by term: GRXCR1-related condition OMIM
ClinVar		 PMID:16380907 PMID:20137774 PMID:20137778 PMID:24033266 PMID:25741868 More... NCBI chr14:40,358,077...40,480,493
Ensembl chr14:40,358,077...40,480,493 		JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gab1 GRB2-associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr19:44,035,693...44,143,617
Ensembl chr19:44,035,063...44,143,617 		JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 28 ClinVar PMID:18452394 PMID:25741868 PMID:28492532 PMID:32109419 NCBI chr 2:80,235,485...80,531,824
Ensembl chr 2:80,235,485...80,531,612 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 28 | ClinVar Annotator: match by term: TRIOBP-related condition
OMIM:609823
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:16199547 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 More... NCBI chr 7:112,386,371...112,452,130
Ensembl chr 7:112,386,420...112,442,924 		JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO
ISS 		OMIM:614035 OMIM
MouseDO		 NCBI chr11:46,701,940...46,799,049
Ensembl chr11:46,701,940...46,799,096 		JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 ClinVar PMID:28492532 NCBI chr10:86,514,850...86,519,130
Ensembl chr10:86,514,874...86,519,130 		JBrowse link
G Kifbp kinesin family binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:31,055,625...31,075,232
Ensembl chr20:31,055,626...31,075,201 		JBrowse link
G Myo15a myosin XVA ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3
OMIM:600316
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 More... NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,776,907...45,835,473 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 ClinVar PMID:25741868 NCBI chr 6:31,647,869...31,744,476
Ensembl chr 6:31,647,914...31,744,476 		JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 30 | ClinVar Annotator: match by term: MYO3A-related condition
OMIM:607101
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:12032315 PMID:16199547 PMID:17344846 PMID:17576681 More... NCBI chr17:89,451,567...89,667,654
Ensembl chr17:89,451,567...89,667,654 		JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO
ISS 		ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF | ClinVar Annotator: match by term: WHRN-related condition
CTD Direct Evidence: marker/mechanism
OMIM:607084 		OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:16199547 More... NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc14a cell division cycle 14A ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CDC14A-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32
OMIM:608653 		CTD
ClinVar
MouseDO
OMIM		 PMID:12634867 PMID:24033266 PMID:25741868 PMID:26467025 PMID:27259055 More... NCBI chr 2:206,910,475...207,070,537
Ensembl chr 2:206,910,475...207,091,722 		JBrowse link
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 35 | ClinVar Annotator: match by term: ESRRB-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:12529709 PMID:16199547 PMID:18179891 PMID:22951369 PMID:23767834 More... NCBI chr 6:111,738,662...111,894,087
Ensembl chr 6:111,738,662...111,894,087 		JBrowse link
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant OMIM
ClinVar		 PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 More... NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:167,909,271...167,942,984 		JBrowse link
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 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 8:89,967,351...90,122,219
Ensembl chr 8:89,967,377...90,122,215 		JBrowse link
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 39 | ClinVar Annotator: match by term: HGF-related condition
OMIM:608265
CTD Direct Evidence: marker/mechanism
DNA:deletions,mutation:intron,exon: 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:8548545 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851 		JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr 1:88,642,925...88,652,821
Ensembl chr 1:88,642,925...88,652,821 		JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: FOXI1-related condition OMIM
ClinVar		 PMID:17503324 PMID:20621367 PMID:20809947 PMID:22285650 PMID:24860705 More... NCBI chr10:19,310,466...19,314,405
Ensembl chr10:19,310,482...19,314,405 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: KCNJ10-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-related disorder | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-related disorder | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder 		OMIM
ClinVar		 PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 More... NCBI chr13:87,334,510...87,367,747
Ensembl chr13:87,334,216...87,368,678 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct ClinVar PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 More... NCBI chr 2:176,237,564...176,265,301
Ensembl chr 2:176,237,564...176,288,072 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-related disorder | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: FOXI1-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
DNA:mutations:multiple (human)
DNA:transition:intron:g.IVS7-2A>G (human)
DNA:missense mutations, insertions, snp:multiple (human) 		OMIM
ClinVar
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7421508, RGD:7411671, RGD:7411556, RGD:7411543 NCBI chr 6:53,835,102...53,873,968
Ensembl chr 6:53,835,110...53,873,216 		JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 42 | ClinVar Annotator: match by term: ILDR1-related condition
OMIM:609646
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:15641023 PMID:21255762 PMID:24033266 PMID:25668204 PMID:25741868 More... NCBI chr11:77,591,146...77,624,268
Ensembl chr11:77,569,621...77,624,140 		JBrowse link
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy1 adenylate cyclase 1 ISO ClinVar Annotator: match by term: ADCY1-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 44
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15583425 PMID:21270786 PMID:24033266 PMID:24482543 PMID:24824130 More... NCBI chr14:86,125,119...86,234,459
Ensembl chr14:86,124,850...86,261,075 		JBrowse link
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib2 calcium and integrin binding family member 2 ISO
ISS 		ClinVar Annotator: match by term: CIB2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 48
OMIM:609439
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2911222 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 More... NCBI chr 8:63,826,410...63,843,301
Ensembl chr 8:63,826,411...63,843,277 		JBrowse link
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marveld2 MARVEL domain containing 2 ISO
ISS 		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 		OMIM
ClinVar
MouseDO
CTD		 PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 More... NCBI chr 2:33,474,750...33,498,225
Ensembl chr 2:33,462,950...33,498,077 		JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 53
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10677296 PMID:15558753 PMID:16033917 PMID:16199547 More... NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
autosomal recessive nonsyndromic deafness 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 57 | ClinVar Annotator: match by term: Deafness, autosomal recessive 57 OMIM
ClinVar		 PMID:16199547 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pjvk pejvakin ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 59 | ClinVar Annotator: match by term: PJVK-related disorder
OMIM:610220
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 More... NCBI chr 3:82,002,106...82,012,273
Ensembl chr 3:82,002,368...82,012,451 		JBrowse link
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 | ClinVar Annotator: match by term: TMIE-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8593615 PMID:12145746 PMID:16389551 PMID:19438934 PMID:24033266 More... NCBI chr 8:119,728,123...119,743,219
Ensembl chr 8:119,728,313...119,743,219 		JBrowse link
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 61 | ClinVar Annotator: match by term: SLC26A5-related condition OMIM
ClinVar		 PMID:12239568 PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 More... NCBI chr 4:14,102,492...14,141,520
Ensembl chr 4:14,102,492...14,141,847 		JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 63
OMIM:611451
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 NCBI chr 1:165,678,654...165,680,703
Ensembl chr 1:165,678,654...165,680,703 		JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 66
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Q424P (human) 		OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:16244493 PMID:23677054 PMID:23746548 PMID:25557784 More... RGD:10412291 NCBI chr17:40,274,009...40,459,757
Ensembl chr17:40,274,009...40,458,790 		JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 67 | ClinVar Annotator: match by term: LHFPL5-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:27148795 More... NCBI chr20:6,634,058...6,644,264
Ensembl chr20:6,633,979...6,644,657 		JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1pr2 sphingosine-1-phosphate receptor 2 ISO
ISS 		ClinVar Annotator: match by term: Deafness, autosomal recessive 68 | ClinVar Annotator: match by term: S1PR2-related condition
OMIM:610419
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26467025 More... NCBI chr 8:27,779,452...27,790,344
Ensembl chr 8:27,774,566...27,790,577 		JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar PMID:10449658 PMID:22578326 PMID:22987632 PMID:23208854 PMID:23494849 More... NCBI chr 2:199,015,250...199,063,788
Ensembl chr 2:199,015,250...199,063,056 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 ClinVar PMID:35802133 PMID:36633841 NCBI chr 1:185,074,271...185,142,149
Ensembl chr 1:185,074,268...185,141,658 		JBrowse link
G Tmc1 transmembrane channel-like 1 ISO
ISS 		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11
OMIM:600974
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11850618 PMID:15605408 PMID:16134132 PMID:16199547 More... NCBI chr 1:227,701,781...227,872,534
Ensembl chr 1:227,701,781...227,872,534 		JBrowse link
autosomal recessive nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 70 OMIM
ClinVar		 PMID:11080643 PMID:23084290 PMID:23084291 PMID:24088041 PMID:25326635 More... NCBI chr14:107,078,486...107,109,628
Ensembl chr14:107,078,469...107,109,628 		JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msrb3 methionine sulfoxide reductase B3 ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 74 | ClinVar Annotator: match by term: MSRB3-related condition
OMIM:613718 		OMIM
ClinVar
MouseDO		 PMID:19650862 PMID:21185009 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 7:58,188,827...58,311,459
Ensembl chr 7:57,968,124...58,311,116 		JBrowse link
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 76 | ClinVar Annotator: match by term: SYNE4-related condition | ClinVar Annotator: match by term: SYNE4-related hearing loss OMIM
ClinVar		 PMID:16199547 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:94,696,866...94,701,230
Ensembl chr 1:94,696,609...94,701,230 		JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 77 | ClinVar Annotator: match by term: LOXHD1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16936105 PMID:17576681 PMID:19732867 More... NCBI chr18:73,093,142...73,245,784
Ensembl chr18:73,093,142...73,245,784 		JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tprn taperin ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 79 | ClinVar Annotator: match by term: TPRN-related condition
OMIM:613307
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:26969326 More... NCBI chr 3:28,474,322...28,481,800
Ensembl chr 3:28,473,620...28,482,117 		JBrowse link
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 10 ClinVar PMID:25741868 NCBI chr 5:144,933,692...144,939,435
Ensembl chr 5:144,933,696...144,940,280 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8 | ClinVar Annotator: match by term: TMPRSS3-related condition OMIM
ClinVar		 PMID:3285355 PMID:3459936 PMID:9536098 PMID:11137999 PMID:11424922 More... NCBI chr20:9,253,497...9,275,167
Ensembl chr20:9,255,467...9,275,720 		JBrowse link
autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION OMIM
ClinVar		 PMID:20346435 PMID:25557914 PMID:25741868 PMID:26467025 PMID:29309402 More... NCBI chr 7:44,720,916...44,903,291
Ensembl chr 7:44,720,916...44,903,291 		JBrowse link
autosomal recessive nonsyndromic deafness 84B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 84b | ClinVar Annotator: match by term: OTOGL-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23122586 PMID:23850727 More... NCBI chr 7:44,952,633...45,097,869
Ensembl chr 7:44,953,399...45,110,055 		JBrowse link
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Deafness , autosomal recessive 86 | ClinVar Annotator: match by term: Deafness, autosomal recessive 86 OMIM
ClinVar		 PMID:22211675 PMID:23526554 PMID:24033266 PMID:24291220 PMID:24387994 More... NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,714,833...13,740,473 		JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO
ISS 		ClinVar Annotator: match by term: Deafness, autosomal recessive 88
OMIM:615429 		OMIM
ClinVar
MouseDO		 PMID:24039609 PMID:25741868 PMID:28492532 NCBI chr 4:106,172,819...106,211,286
Ensembl chr 4:106,172,828...106,211,229 		JBrowse link
autosomal recessive nonsyndromic deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 89 OMIM
ClinVar		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24033266 More... NCBI chr19:56,867,096...56,886,151
Ensembl chr19:56,867,096...56,886,073 		JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:18381613 PMID:28492532 NCBI chr17:62,835,055...62,902,331
Ensembl chr17:62,812,988...62,903,552 		JBrowse link
G Cep135 centrosomal protein 135 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:28866084 NCBI chr14:31,884,774...31,950,050
Ensembl chr14:31,884,781...31,950,050 		JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 ClinVar PMID:24218524 PMID:25326637 PMID:26467025 PMID:28492532 PMID:32743982 More... NCBI chr13:94,436,680...94,465,535
Ensembl chr13:94,436,546...94,463,378 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr18:29,920,889...30,020,280
Ensembl chr18:29,920,889...30,020,280 		JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:25741868 PMID:28475857 PMID:29704315 PMID:31130284 PMID:31400068 More... NCBI chr17:41,914,425...41,915,206
Ensembl chr17:41,914,431...41,916,129 		JBrowse link
G Hspd1 heat shock protein family D (Hsp60) member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 9:64,073,610...64,084,332
Ensembl chr 9:64,073,611...64,084,037 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr MT:13,543...14,061
Ensembl chr MT:13,531...14,049 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:28492532 PMID:28964305 NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,776,907...45,835,473 		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 chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Otof otoferlin ISO
ISS 		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:601071
CTD Direct Evidence: marker/mechanism
DNA:duplication:cds:c.1981dupG (human)
DNA:missense mutation:cds:p.D1767G (mouse)
DNA:missense mutation:cds:p.R1939Q (human)
DNA:snps, deletion:cds:multiple (human)
associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human)
DNA:missense mutation:cds:p.L1011P (human)
DNA:snp:intron:IVS8-2A>G (human)
DNA:nonsense mutation:cds:p.Q829X (human)
DNA:nonsense mutation:cds:p.Y730X (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 More... RGD:9585724, RGD:9491826, RGD:9491826, RGD:9491386, RGD:9479161, RGD:9479157, RGD:737640, RGD:9479156, RGD:9479153 NCBI chr 6:31,647,869...31,744,476
Ensembl chr 6:31,647,914...31,744,476 		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 chr10:45,412,748...45,507,747
Ensembl chr10:45,447,427...45,507,747 		JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:27068579 PMID:28492532 NCBI chr 7:25,881,557...25,936,837
Ensembl chr 7:25,881,557...25,935,410 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 7:110,126,632...110,146,647
Ensembl chr 7:110,143,220...110,158,809 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,714,833...13,740,473 		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 9:2,004,836...2,012,281
Ensembl chr 9:2,004,840...2,012,286 		JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinb6a serpin family B member 6A ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91 | ClinVar Annotator: match by term: SERPINB6-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20451170 PMID:24033266 PMID:25741868 More... NCBI chr17:31,076,811...31,195,035
Ensembl chr17:31,158,622...31,196,545 		JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp2 calcium binding protein 2 ISO
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 chr 1:210,804,111...210,809,941
Ensembl chr 1:210,804,096...210,809,940 		JBrowse link
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 94 | ClinVar Annotator: match by term: NARS2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:25807530 PMID:26402642 More... NCBI chr 1:160,711,680...160,823,311
Ensembl chr 1:160,711,696...160,827,606 		JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 97 ClinVar
OMIM		 PMID:9563489 PMID:9731534 PMID:10327054 PMID:12920089 PMID:14559814 More... NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 PMID:27736875 More... NCBI chr20:10,771,365...10,944,285
Ensembl chr20:10,771,371...10,943,708 		JBrowse link
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem132e transmembrane protein 132E ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 99 | ClinVar Annotator: match by term: Deafness, autosomal recessive 99 | ClinVar Annotator: match by term: TMEM132E-related condition OMIM
ClinVar		 PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr10:67,828,475...67,884,398
Ensembl chr10:67,828,475...67,884,398 		JBrowse link
autosomal recessive spinocerebellar ataxia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc9a1 solute carrier family 9 member A1 ISO ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome | ClinVar Annotator: match by term: SLC9A1-related condition OMIM
ClinVar		 PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 NCBI chr 5:150,859,412...150,913,525
Ensembl chr 5:150,860,228...150,913,517 		JBrowse link
autosomal-mitochondrial sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,323...6,867
Ensembl chr MT:5,309...6,853 		JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Ayme-Gripp syndrome | ClinVar Annotator: match by term: MAF-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 More... NCBI chr19:60,259,200...60,622,145
Ensembl chr19:60,269,541...60,621,378 		JBrowse link
Bart-Pumphrey syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Bart-Pumphrey syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.N54K(human) 		OMIM
ClinVar
CTD
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:7364821 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO
ISS 		ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A
OMIM:602522
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 5:126,480,590...126,489,389
Ensembl chr 5:126,480,592...126,489,389 		JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Infantile Bartter syndrome with sensorineural deafness ClinVar PMID:11687798 PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 More... NCBI chr 5:126,480,590...126,489,389
Ensembl chr 5:126,480,592...126,489,389 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 4B | ClinVar Annotator: match by term: Infantile Bartter syndrome with sensorineural deafness
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:158,974,190...158,989,275
Ensembl chr 5:158,974,193...158,989,128 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B 		OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:158,993,073...159,005,618
Ensembl chr 5:158,993,074...159,004,900 		JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Behr syndrome | ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES 		CTD
OMIM
ClinVar		 PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
Bilateral Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X RGD PMID:12032315 RGD:1600555 NCBI chr17:89,451,567...89,667,654
Ensembl chr17:89,451,567...89,667,654 		JBrowse link
G Nefh neurofilament heavy chain disease_progression IEP RGD PMID:27457532 RGD:27372873 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) RGD PMID:19645628 RGD:7411669 NCBI chr 6:53,835,102...53,873,968
Ensembl chr 6:53,835,110...53,873,216 		JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 9:83,614,045...83,618,052
Ensembl chr 9:83,613,975...83,618,257 		JBrowse link
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome OMIM
ClinVar		 PMID:9536098 PMID:12002153 PMID:17576681 PMID:18414213 PMID:21658225 More... NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:131,859,696...131,900,072 		JBrowse link
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:110,126,632...110,146,647
Ensembl chr 7:110,143,220...110,158,809 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PONTOBULBAR PALSY WITH DEAFNESS 		CTD
ClinVar		 PMID:22718020 PMID:24033266 PMID:25741868 PMID:26072523 PMID:27702554 More... NCBI chr 3:160,959,233...160,976,170
Ensembl chr 3:160,965,302...160,974,692 		JBrowse link
Brown-Vialetto-Van Laere syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:24253200 PMID:25741868 PMID:27148561 PMID:28492532 NCBI chr 7:110,126,632...110,146,647
Ensembl chr 7:110,143,220...110,158,809 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 OMIM
ClinVar		 PMID:2020633 PMID:9536098 PMID:16122634 PMID:16199547 PMID:17576681 More... NCBI chr 3:160,959,233...160,976,170
Ensembl chr 3:160,965,302...160,974,692 		JBrowse link
Brown-Vialetto-Van Laere syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 ClinVar PMID:8670792 PMID:10408779 PMID:11004248 PMID:11873320 PMID:15542397 More... NCBI chr 9:21,755,747...21,767,939
Ensembl chr 9:21,755,751...21,767,908 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 | ClinVar Annotator: match by term: Riboflavin transporter deficiency type 2 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH BLINDNESS AND DEAFNESS 2 OMIM
ClinVar		 PMID:9536098 PMID:10797435 PMID:11175288 PMID:16199547 PMID:17576681 More... NCBI chr 7:110,126,632...110,146,647
Ensembl chr 7:110,143,220...110,158,809 		JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter: 		OMIM
ClinVar
CTD
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:11531484, RGD:155882456 NCBI chr18:75,934,085...75,949,873
Ensembl chr18:75,933,993...75,949,873 		JBrowse link
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: CATSHL SYNDROME | ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome | ClinVar Annotator: match by term: FGFR3-related CATSHL syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM
RGD		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... RGD:11576280 NCBI chr 1:89,700,645...89,729,782
Ensembl chr 1:89,700,649...89,729,825 		JBrowse link
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | ClinVar Annotator: match by term: IARS2-related condition OMIM
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr13:99,363,035...99,397,068
Ensembl chr13:99,362,696...99,397,068 		JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkc1 dyskerin pseudouridine synthase 1 ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 ClinVar
OMIM		 PMID:32554502 NCBI chr  X:157,751,651...157,757,796
Ensembl chr  Y:380,743...385,405
Ensembl chr  X:380,743...385,405 		JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 ClinVar
OMIM		 PMID:32554502 NCBI chr 3:119,521,255...119,522,340
Ensembl chr 3:119,521,255...119,522,340 		JBrowse link
Charcot-Marie-Tooth disease type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, WITH DEAFNESS, MENTAL RETARDATION, AND ABSENT SENSORY LARGE MYELINATED FIBERS ClinVar PMID:12402337 PMID:15241803 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr  X:70,541,845...70,549,776
Ensembl chr  X:70,541,862...70,549,843 		JBrowse link
G Pmp2 peripheral myelin protein 2 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E ClinVar PMID:25741868 NCBI chr 2:93,518,730...93,522,648
Ensembl chr 2:93,518,730...93,522,648 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
ISS 		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E
OMIM:118300
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:7139106 PMID:7649472 PMID:7829101 PMID:8252046 PMID:8988161 More... NCBI chr10:48,294,932...48,324,941
Ensembl chr10:48,297,437...48,324,940 		JBrowse link
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8816708 PMID:9452091 PMID:10071056 PMID:10329755 PMID:10764043 More... NCBI chr13:86,103,290...86,109,156
Ensembl chr13:86,103,290...86,109,155 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:132,528,107...132,567,237 		JBrowse link
Charcot-Marie-Tooth disease X-linked recessive 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: ROSENBERG-CHUTORIAN SYNDROME
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3278127 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 More... NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:108,920,651...108,942,711 		JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: PIGL-related condition
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:CDS:c.500T>C (p.L167P) (human) 		OMIM
ClinVar
CTD
RGD		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:11438011 PMID:16199547 More... RGD:243048422 NCBI chr10:47,641,478...47,699,200
Ensembl chr10:47,641,098...47,699,453 		JBrowse link
Chudley-Mccullough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts | ClinVar Annotator: match by term: GPSM2-Related Disorders
CTD Direct Evidence: marker/mechanism
DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human); 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10449658 PMID:17576681 PMID:20602914 PMID:21348867 More... RGD:11062393 NCBI chr 2:199,015,250...199,063,788
Ensembl chr 2:199,015,250...199,063,056 		JBrowse link
G Sptb spectrin, beta, erythrocytic ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome ClinVar PMID:1391962 PMID:1498324 PMID:8844207 PMID:25741868 PMID:26830532 More... NCBI chr 6:101,043,512...101,170,389
Ensembl chr 6:101,045,216...101,170,278 		JBrowse link
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal2 hyaluronidase 2 ISO ClinVar Annotator: match by term: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ClinVar PMID:25741868 NCBI chr 8:117,121,802...117,125,494
Ensembl chr 8:117,121,787...117,125,493 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness ClinVar
OMIM		 PMID:2440678 PMID:8659547 PMID:16199547 PMID:20127975 PMID:22012259 More... NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:131,965,714...132,177,790 		JBrowse link
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | ClinVar Annotator: match by term: DNAJC3-related condition OMIM
ClinVar		 PMID:25466870 PMID:25741868 PMID:28492532 PMID:28940199 PMID:32738013 More... NCBI chr15:102,432,667...102,475,643
Ensembl chr15:102,432,663...102,475,643 		JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 NCBI chr 5:121,232,532...121,398,775
Ensembl chr 5:121,235,425...121,398,775 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:25741868 NCBI chr 7:109,313,021...109,315,813
Ensembl chr 7:109,313,121...109,315,760 		JBrowse link
combined pituitary hormone deficiency 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxa2 forkhead box A2 ISO ClinVar Annotator: match by term: Non-acquired combined pituitary hormone deficiency ClinVar PMID:25741868 PMID:29329447 PMID:30414530 PMID:33729509 PMID:33999151 NCBI chr 3:155,923,305...155,927,508
Ensembl chr 3:155,923,307...155,928,757 		JBrowse link
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chr 3:29,424,620...29,432,637
Ensembl chr 3:29,424,620...29,432,637 		JBrowse link
Conductive Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chr 5:9,646,599...9,884,609
Ensembl chr 5:9,646,591...9,884,614 		JBrowse link
G Nog noggin ISO RGD PMID:18096605 RGD:12801451 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO DNA:missense mutation:CDS:p.W118R (mouse) RGD PMID:28105375 RGD:155663349 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss ClinVar PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 More... NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:222,674,194...222,702,120 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: CEP78-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1 OMIM
ClinVar		 PMID:3196484 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 More... NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:222,674,194...222,702,120 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: CEP250-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 OMIM
ClinVar		 PMID:16199547 PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 More... NCBI chr 3:164,931,033...164,976,210
Ensembl chr 3:164,931,066...164,976,210 		JBrowse link
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc33a1 solute carrier family 33 member 1 ISO ClinVar Annotator: match by term: Huppke-Brendel syndrome | ClinVar Annotator: match by term: SLC33A1-related condition OMIM
ClinVar		 PMID:15902551 PMID:22243965 PMID:22508683 PMID:24215330 PMID:25741868 More... NCBI chr 2:150,565,327...150,587,700
Ensembl chr 2:150,565,328...150,587,416 		JBrowse link
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: DEAFNESS WITH LAMM | ClinVar Annotator: match by term: FGF3-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:17236138 PMID:18435799 PMID:18701883 PMID:19950373 PMID:21306635 More... NCBI chr 1:209,430,457...209,434,832
Ensembl chr 1:209,430,457...209,434,832 		JBrowse link
Congenital Myopathy with Neuropathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb4 integrin subunit beta 4 ISO ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness ClinVar PMID:25741868 NCBI chr10:101,705,592...101,741,933
Ensembl chr10:101,705,587...101,741,932 		JBrowse link
G Sptbn4 spectrin, beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness | ClinVar Annotator: match by term: SPTBN4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28540413 PMID:29861105 PMID:34440880 NCBI chr 1:91,778,379...91,865,970
Ensembl chr 1:91,778,380...91,865,049 		JBrowse link
corneal dystrophy-perceptive deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal dystrophy and sensorineural deafness | ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16767101 PMID:16825429 PMID:17220209 More... NCBI chr 3:138,353,305...138,365,983
Ensembl chr 3:138,353,305...138,365,754 		JBrowse link
craniofacial-deafness-hand syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:6859126 PMID:8589691 PMID:8664898 PMID:8863157 PMID:9584079 More... NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9536098 PMID:12730828 PMID:15141358 PMID:15154116 PMID:15211651 More... NCBI chr 7:68,436,996...69,013,574
Ensembl chr 7:68,443,655...69,013,574 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,805,858...32,844,347 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		JBrowse link
Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043416 NCBI chr 5:146,609,469...146,649,008
Ensembl chr 5:146,630,445...146,650,610 		JBrowse link
G Aqp4 aquaporin 4 ISO RGD PMID:11406631 RGD:734598 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:18607918 PMID:19365690 PMID:21452221 PMID:23150788 RGD:8639313, RGD:8655576 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Bdp1 BDP1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 2:33,112,518...33,204,270
Ensembl chr 2:33,112,518...33,204,241 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15357422 PMID:10929716 RGD:1300292 NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,233,690...5,674,692 		JBrowse link
G Cdc14a cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 2:206,910,475...207,070,537
Ensembl chr 2:206,910,475...207,091,722 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 5:158,974,190...158,989,275
Ensembl chr 5:158,974,193...158,989,128 		JBrowse link
G Cldn14 claudin 14 susceptibility ISO DNA:deletion, missense mutation: :398delT, p.V85D
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:11163249 PMID:11163249 RGD:1600866 NCBI chr11:46,701,940...46,799,049
Ensembl chr11:46,701,940...46,799,096 		JBrowse link
G Coch cochlin susceptibility ISO deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations RGD PMID:9806553 RGD:1600878 NCBI chr 6:74,766,485...74,780,504
Ensembl chr 6:74,766,419...74,780,502 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:10677296 PMID:21204229 PMID:22246659 PMID:24033266 PMID:25741868 More... NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Crym crystallin, mu ISO DNA:missense mutation:cds:p.K314T (human) RGD PMID:12471561 RGD:734836 NCBI chr 1:183,991,752...184,006,923
Ensembl chr 1:183,991,745...184,006,962 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 PMID:26463574 NCBI chr18:29,920,889...30,020,280
Ensembl chr18:29,920,889...30,020,280 		JBrowse link
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 4:172,119,497...172,291,670
Ensembl chr 4:172,119,497...172,218,160 		JBrowse link
G Espn espin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15286153 PMID:15930085 PMID:10975527 RGD:734943 NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:167,909,271...167,942,984 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:19293293 RGD:8553051 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:100,545,206...100,644,709 		JBrowse link
G Gjb1 gap junction protein, beta 1 treatment ISO RGD PMID:21813206 RGD:7364894 NCBI chr  X:70,541,845...70,549,776
Ensembl chr  X:70,541,862...70,549,843 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... RGD:7364799 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843210 NCBI chr 5:144,933,692...144,939,435
Ensembl chr 5:144,933,696...144,940,280 		JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 2:199,015,250...199,063,788
Ensembl chr 2:199,015,250...199,063,056 		JBrowse link
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr14:40,358,077...40,480,493
Ensembl chr14:40,358,077...40,480,493 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:20661454 RGD:8549497 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr11:77,591,146...77,624,268
Ensembl chr11:77,569,621...77,624,140 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness 		CTD
ClinVar		 PMID:12022040 PMID:25741868 NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO RGD PMID:12618319 RGD:8662867 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:87,334,216...87,368,678 		JBrowse link
G Kcnk1 potassium two pore domain channel subfamily K member 1 IEP mRNA:decreased expression:brain, neuron RGD PMID:17884299 RGD:2316516 NCBI chr19:70,856,985...70,895,053
Ensembl chr19:70,856,985...70,895,051 		JBrowse link
G Kcnk10 potassium two pore domain channel subfamily K member 10 IEP mRNA:decreased expression:inferior colliculus (rat) RGD PMID:17884299 RGD:2316516 NCBI chr 6:123,419,778...123,555,820
Ensembl chr 6:123,423,950...123,555,614 		JBrowse link
G Kcnk3 potassium two pore domain channel subfamily K member 3 IEP mRNA:decreased expression:brain, neuron RGD PMID:17884299 RGD:2316516 NCBI chr 6:31,483,129...31,519,061
Ensembl chr 6:31,483,140...31,519,061 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 IAGP DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072 		JBrowse link
G Kcnq1dfk potassium voltage-gated channel subfamily Q member 1;deafness Kyoto IAGP RGD PMID:16368876 RGD:1581602
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:26437881 PMID:28492532 PMID:30298622 NCBI chr20:6,634,058...6,644,264
Ensembl chr20:6,633,979...6,644,657 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:19732867 PMID:21465660 PMID:23897863 PMID:24033266 PMID:25333069 More... NCBI chr18:73,093,142...73,245,784
Ensembl chr18:73,093,142...73,245,784 		JBrowse link
G Lrrc51 leucine rich repeat containing 51 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953341 NCBI chr 1:165,690,617...165,709,837
Ensembl chr 1:165,690,111...165,698,842 		JBrowse link
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 2:33,474,750...33,498,225
Ensembl chr 2:33,462,950...33,498,077 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:131,965,714...132,177,790 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:8280620 PMID:10973259 PMID:10973260 PMID:11159552 PMID:11590545 More... NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
G Myo7a myosin VIIA ISO
IAGP 		DNA:mutations:cds:multiple (mouse)
ClinVar Annotator: match by term: Deafness
DNA:nonsense mutation:cds
DNA:deletions:exons 		ClinVar
RGD		 PMID:22135276 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... RGD:4892285, RGD:1581470, RGD:8694136 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Deafness
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:17967520 PMID:30073893 PMID:30303587 PMID:17055430 RGD:9491387 NCBI chr 6:31,647,869...31,744,476
Ensembl chr 6:31,647,914...31,744,476 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 1:105,882,747...105,951,825
Ensembl chr 1:105,882,747...105,951,824 		JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
G Pcdh15 protocadherin related 15 ISO
IAGP 		CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat) 		CTD
RGD		 PMID:10978835 PMID:19151506 RGD:2306012 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Pjvk pejvakin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness 		CTD
ClinVar		 PMID:17301963 PMID:17329413 PMID:17718875 PMID:19888295 PMID:21696384 More... NCBI chr 3:82,002,106...82,012,273
Ensembl chr 3:82,002,368...82,012,451 		JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 1:104,161,984...104,178,074
Ensembl chr 1:104,162,016...104,172,982 		JBrowse link
G Polr2c RNA polymerase II subunit C ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr19:10,164,148...10,170,930
Ensembl chr19:10,164,145...10,170,971 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO RGD PMID:9298820 PMID:7839145 RGD:1599156, RGD:1599155 NCBI chr  X:79,974,808...79,976,085
Ensembl chr  X:79,974,627...79,987,326 		JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO RGD PMID:9506947 RGD:1599168 NCBI chr18:34,641,191...34,643,783
Ensembl chr18:34,641,191...34,643,783 		JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 7:44,720,916...44,903,291
Ensembl chr 7:44,720,916...44,903,291 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:28492532 NCBI chr10:45,412,748...45,507,747
Ensembl chr10:45,447,427...45,507,747 		JBrowse link
G Ret ret proto-oncogene IEP mRNA:increased expression:vestibulocochlear VIII nerve cochlear component RGD PMID:16738479 RGD:2324943 NCBI chr 4:152,998,344...153,040,556
Ensembl chr 4:152,998,812...153,040,556 		JBrowse link
G Serac1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr 1:49,025,845...49,061,853
Ensembl chr 1:49,025,845...49,061,853 		JBrowse link
G Slc19a2 solute carrier family 19 member 2 ISO RGD PMID:10391221 RGD:1599325 NCBI chr13:79,135,118...79,149,316
Ensembl chr13:79,135,059...79,149,315 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Deafness
human gene in mouse model
DNA:missense mutation:cds:p.L445W (human)
DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human) 		ClinVar
RGD		 PMID:9500541 PMID:9618166 PMID:10861298 PMID:11317356 PMID:12354788 More... RGD:11062194, RGD:7411670, RGD:7411562, RGD:7411559, RGD:1599215, RGD:1599217 NCBI chr 6:53,835,102...53,873,968
Ensembl chr 6:53,835,110...53,873,216 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12719379 NCBI chr 4:14,102,492...14,141,520
Ensembl chr 4:14,102,492...14,141,847 		JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:69,518,988...69,549,684
Ensembl chr18:69,518,988...69,549,684 		JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:11850618 PMID:16199547 PMID:22105175 PMID:25741868 PMID:28492532 More... NCBI chr 1:227,701,781...227,872,534
Ensembl chr 1:227,701,781...227,872,534 		JBrowse link
G Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27311106 NCBI chr 7:42,280,746...42,695,651
Ensembl chr 7:42,280,746...42,693,350 		JBrowse link
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chr 2:80,235,485...80,531,824
Ensembl chr 2:80,235,485...80,531,612 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:112,386,371...112,452,130
Ensembl chr 7:112,386,420...112,442,924 		JBrowse link
G Ush1g USH1 protein network component sans ISO Usher syndrome, type IG, OMIM:607696
ClinVar Annotator: match by term: Deafness 		ClinVar
RGD		 PMID:25741868 PMID:30303587 PMID:12588794 RGD:1599547 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmc3 proteasome 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy ClinVar
OMIM		 PMID:32500975 NCBI chr 3:97,487,643...97,493,025
Ensembl chr 3:97,487,632...97,499,176 		JBrowse link
Deafness, Congenital Heart Defects, and Posterior Embryotoxon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon OMIM
ClinVar		 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chr 3:144,859,453...144,894,883
Ensembl chr 3:144,859,453...144,894,872 		JBrowse link
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy OMIM
ClinVar		 PMID:21427441 PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 More... NCBI chr19:56,867,096...56,886,151
Ensembl chr19:56,867,096...56,886,073 		JBrowse link
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029 PMID:17546645 PMID:19274735 PMID:21270786 PMID:24033266 More... NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,776,907...45,835,473 		JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO
ISS 		DNA:mutation:intron:IVS1-23A>C(human)
OMIM:304700
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human) 		MouseDO
ClinVar
CTD
OMIM
RGD		 PMID:8841189 PMID:9536098 PMID:10878669 PMID:11405816 PMID:11601506 More... RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:102,011,206...102,015,444
Ensembl chr  X:102,011,206...102,015,444 		JBrowse link
Deafness-Infertility Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel, sperm associated 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome 		CTD
ClinVar		 PMID:19344877 PMID:24033266 NCBI chr 3:128,822,387...128,842,501
Ensembl chr 3:128,822,391...128,842,261 		JBrowse link
G Strc stereocilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome 		CTD
ClinVar		 PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chr 3:128,785,817...128,811,773
Ensembl chr 3:128,789,290...128,808,023 		JBrowse link
Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Manf mesencephalic astrocyte-derived neurotrophic factor ISO ClinVar Annotator: match by term: Diabetes, deafness, developmental delay, and short stature syndrome OMIM
ClinVar		 PMID:25741868 PMID:26077850 PMID:33500254 NCBI chr 8:116,427,053...116,430,259
Ensembl chr 8:116,427,048...116,429,910 		JBrowse link
dilated cardiomyopathy 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1J | ClinVar Annotator: match by term: EYA4-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 More... NCBI chr 1:23,991,431...24,235,132
Ensembl chr 1:23,991,431...24,235,131 		JBrowse link
Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: ATP6V1B1-related condition | ClinVar Annotator: match by term: Renal tubular acidosis with progressive nerve deafness
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8651253 PMID:9536098 PMID:9916796 PMID:12414817 PMID:12566520 More... NCBI chr 4:117,781,444...117,800,103
Ensembl chr 4:117,781,444...117,800,103 		JBrowse link
dominant optic atrophy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features | ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 		CTD
OMIM
ClinVar		 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More... NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr 9:34,592,723...34,674,425
Ensembl chr 9:34,577,616...34,674,428 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO
ISS 		ClinVar Annotator: match by term: DBS/FOAR SYNDROME | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: FACIOOCULOACOUSTICORENAL SYNDROME | ClinVar Annotator: match by term: LRP2-related condition
OMIM:222448
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
DOORS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1c1 ATPase H+ transporting V1 subunit C1 ISO ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25741868 NCBI chr 7:71,719,326...71,757,191
Ensembl chr 7:71,719,404...71,757,184 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME ClinVar PMID:25326637 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31465090 NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: DOORS syndrome ClinVar PMID:25326637 PMID:28492532 NCBI chr11:84,612,943...84,690,025
Ensembl chr11:84,615,340...84,689,955 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: DOOR SYNDROME | ClinVar Annotator: match by term: DOORS syndrome OMIM
ClinVar		 PMID:1029242 PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 More... NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,714,833...13,740,473 		JBrowse link
drug-induced hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sirt3 sirtuin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:36800006 NCBI chr 1:205,371,703...205,394,145
Ensembl chr 1:205,371,710...205,394,076 		JBrowse link
EAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO
ISS 		ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome
OMIM:612780
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... RGD:8662866 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:87,334,216...87,368,678 		JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type, 2 OMIM
ClinVar		 PMID:28492532 NCBI chr 4:85,035,840...85,051,917
Ensembl chr 4:85,037,145...85,051,808 		JBrowse link
Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd151 CD151 molecule (Raph blood group) ISO ClinVar Annotator: match by term: CD151-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:15265795 PMID:17576681 PMID:25741868 PMID:25741871 More... NCBI chr 1:205,994,300...205,998,307
Ensembl chr 1:205,994,738...205,998,784 		JBrowse link
Familial Visceral Neuropathy 2, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb2 erb-b2 receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Visceral neuropathy, familial, 2, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28164408 PMID:28492532 PMID:29072371 PMID:33497358 More... NCBI chr10:83,907,491...83,931,365
Ensembl chr10:83,907,460...83,931,481 		JBrowse link
Fine-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdlbp high density lipoprotein binding protein ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 9:101,395,491...101,465,446
Ensembl chr 9:101,397,305...101,465,379 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr12:26,587,674...26,655,612
Ensembl chr12:26,587,674...26,635,809 		JBrowse link
G Slc39a13 solute carrier family 39 member 13 ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 3:97,495,229...97,504,279
Ensembl chr 3:97,495,229...97,505,052 		JBrowse link
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012 		JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chr 8:82,663,373...82,717,267
Ensembl chr 8:82,663,276...82,717,262 		JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO
ISS 		OMIM:214450
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: MYO5A-related condition 		OMIM
MouseDO
CTD
ClinVar		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr 8:84,692,524...84,860,564
Ensembl chr 8:84,692,910...84,856,265 		JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: PAID SYNDROME | ClinVar Annotator: match by term: PARTIAL ALBINISM AND IMMUNODEFICIENCY SYNDROME
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr 8:82,663,373...82,717,267
Ensembl chr 8:82,663,276...82,717,262 		JBrowse link
Griscelli syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mlph melanophilin ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 | ClinVar Annotator: match by term: MLPH-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr 9:98,955,036...98,990,566
Ensembl chr 9:98,955,141...98,990,556 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr 8:84,692,524...84,860,564
Ensembl chr 8:84,692,910...84,856,265 		JBrowse link
Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd12 abhydrolase domain containing 12, lysophospholipase ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr 3:160,119,724...160,179,959
Ensembl chr 3:160,119,724...160,179,969 		JBrowse link
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:19477959 PMID:20301607 PMID:24033266 PMID:25741868 PMID:25792668 More... NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:25741868 More... NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated protein ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chr 4:119,683,085...119,783,471
Ensembl chr 4:119,683,076...119,783,471 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19738398 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Arc activity-regulated cytoskeleton-associated protein treatment IEP
ISO 		mRNA:decreased expression:auditory cortex: RGD PMID:18524887 PMID:18607918 RGD:8655535, RGD:8655538 NCBI chr 7:108,444,959...108,448,413
Ensembl chr 7:108,444,692...108,451,220 		JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 NCBI chr 4:95,241,933...95,244,028
Ensembl chr 4:95,241,933...95,244,019 		JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 4:148,450,207...148,763,653
Ensembl chr 4:148,450,207...148,696,239 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:9916796 PMID:16769747 PMID:18368028 PMID:24033266 PMID:25741868 More... NCBI chr 4:117,781,444...117,800,103
Ensembl chr 4:117,781,444...117,800,103 		JBrowse link
G Barhl1 BarH-like homeobox 1 ISO RGD PMID:12091321 RGD:14390166 NCBI chr 3:32,639,283...32,646,605
Ensembl chr 3:32,638,644...32,646,605 		JBrowse link
G Bcl2l1 Bcl2-like 1 ISO CTD Direct Evidence: therapeutic CTD PMID:17697574 NCBI chr 3:161,713,777...161,764,844
Ensembl chr 3:161,745,540...161,764,907
Ensembl chr 1:161,745,540...161,764,907 		JBrowse link
G Bdnf brain-derived neurotrophic factor IEP mRNA:increased expression:cochlea: RGD PMID:18524887 RGD:8655535 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Bdp1 BDP1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 2:33,112,518...33,204,270
Ensembl chr 2:33,112,518...33,204,241 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30872814 NCBI chr 3:141,264,648...141,275,416
Ensembl chr 3:141,264,646...141,274,760 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:17275231 RGD:8698665 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9536098 PMID:17576681 PMID:19530235 PMID:21548014 PMID:22632462 More... NCBI chr12:4,895,092...4,939,340
Ensembl chr12:4,895,447...4,936,194 		JBrowse link
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:11687798 PMID:11734858 PMID:12574213 PMID:16328537 PMID:16572343 More... NCBI chr 5:126,480,590...126,489,389
Ensembl chr 5:126,480,592...126,489,389 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr 1:210,804,111...210,809,941
Ensembl chr 1:210,804,096...210,809,940 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:16199547 PMID:28492532 PMID:30311386 NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,233,690...5,674,692 		JBrowse link
G Cacna2d2 calcium voltage-gated channel auxiliary subunit alpha2delta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27798183 NCBI chr 8:116,950,860...117,082,159
Ensembl chr 8:116,950,907...117,081,759 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:26,609,407...26,792,734 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr 1:129,100,088...129,161,167
Ensembl chr 1:129,100,041...129,161,081 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:2911222 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 More... NCBI chr 8:63,826,410...63,843,301
Ensembl chr 8:63,826,411...63,843,277 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:30303587 NCBI chr 5:158,974,190...158,989,275
Ensembl chr 5:158,974,193...158,989,128 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 PMID:30311386 PMID:31175426 PMID:34265170 NCBI chr10:13,218,728...13,220,159
Ensembl chr10:13,218,729...13,220,178 		JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:30311386 NCBI chr 9:24,208,455...24,310,964
Ensembl chr 9:24,208,456...24,358,780 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11524702 PMID:12145752 PMID:19753315 PMID:20717163 PMID:22681893 More... NCBI chr 2:145,233,941...145,280,855
Ensembl chr 2:145,233,941...145,280,855 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:30311386 PMID:33169910 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9536098 PMID:16033917 PMID:17576681 PMID:24033266 PMID:25633957 More... NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:26626311 PMID:28492532 PMID:30311386 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Col4a3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:7987301 PMID:9269635 PMID:11044206 PMID:11961012 PMID:12028435 More... NCBI chr 9:91,323,990...91,453,088
Ensembl chr 9:91,323,990...91,453,077 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:12028435 PMID:16467446 PMID:17396119 PMID:17942953 PMID:24033287 More... NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:91,203,670...91,323,577 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:8406498 PMID:8455372 PMID:9536098 PMID:10094548 PMID:11462238 More... NCBI chr  X:109,907,251...110,111,214
Ensembl chr  X:109,907,346...110,111,214 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24036952 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:34,003,905...34,164,543 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr 3:188,089,337...188,112,034
Ensembl chr 3:188,089,403...188,112,270 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO mRNA, protein:altered expression:cochlea RGD PMID:24781382 RGD:9491762 NCBI chr19:10,233,326...10,244,856
Ensembl chr19:10,233,329...10,242,999 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 ISO mRNA, protein:increased expression:cochlea RGD PMID:24781382 RGD:9491762 NCBI chr 8:128,661,294...128,679,048
Ensembl chr 8:128,654,833...128,685,983 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar PMID:24033266 PMID:24781755 PMID:25741868 PMID:26463574 PMID:28492532 More... NCBI chr18:29,920,889...30,020,280
Ensembl chr18:29,920,889...30,020,280 		JBrowse link
G Diaph3 diaphanous-related formin 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr15:68,951,992...69,421,623
Ensembl chr15:68,951,989...69,421,552 		JBrowse link
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 8:63,637,314...63,803,911
Ensembl chr 8:63,637,314...63,781,116 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532572 NCBI chr 8:27,716,797...27,763,405
Ensembl chr 8:27,716,797...27,763,119 		JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr14:5,870,232...5,876,339
Ensembl chr14:5,870,232...5,876,339 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple RGD PMID:24470203 RGD:155791662 NCBI chr10:88,304,992...88,352,229
Ensembl chr10:88,304,992...88,346,299 		JBrowse link
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr 4:172,119,497...172,291,670
Ensembl chr 4:172,119,497...172,218,160 		JBrowse link
G Eral1 Era-like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr10:63,459,774...63,466,829
Ensembl chr10:63,459,774...63,468,225 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:25440059 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:30303587 NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:167,909,271...167,942,984 		JBrowse link
G Esr2 estrogen receptor 2 ISO RGD PMID:18317592 RGD:8553063 NCBI chr 6:100,589,553...100,645,240
Ensembl chr 6:100,545,206...100,644,709 		JBrowse link
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:23967202 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... NCBI chr 6:111,738,662...111,894,087
Ensembl chr 6:111,738,662...111,894,087 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:23552953 PMID:24033266 PMID:25741868 PMID:26667035 PMID:28492532 More... NCBI chr 5:9,646,599...9,884,609
Ensembl chr 5:9,646,591...9,884,614 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr 1:23,991,431...24,235,132
Ensembl chr 1:23,991,431...24,235,131 		JBrowse link
G Foxc1 forkhead box C1 ISO associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) RGD PMID:17653043 RGD:12904051 NCBI chr17:32,840,119...32,844,100
Ensembl chr17:32,805,858...32,844,347 		JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar PMID:25741868 PMID:30311386 NCBI chr10:19,310,466...19,314,405
Ensembl chr10:19,310,482...19,314,405 		JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr17:73,544,234...73,575,670
Ensembl chr17:73,553,548...73,575,670 		JBrowse link
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:30303587 PMID:30311386 PMID:32682410 NCBI chr 7:9,026,905...9,034,005
Ensembl chr 7:9,026,905...9,034,795 		JBrowse link
G Gja1 gap junction protein, alpha 1 no_association ISO DNA:polymorphisms RGD PMID:12791041 RGD:8662384 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO DNA:deletion: :c.35delG(human)
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
DNA:mutation:cds:p.V37I(human)
DNA:dels,polymorphism:cds:c.235delC,c.35delG,c.585G>C(human) 		ClinVar
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... RGD:7364794, RGD:7364893, RGD:7364886, RGD:7364810 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:10587579 PMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 More... NCBI chr 5:144,933,692...144,939,435
Ensembl chr 5:144,933,696...144,940,280 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Hearing impairment
p.T5M(human) 		ClinVar
RGD		 PMID:30311386 PMID:19173109 PMID:12490528 PMID:20858605 RGD:7364893, RGD:7364899, RGD:7364895 NCBI chr15:35,400,147...35,410,649
Ensembl chr15:35,398,770...35,410,849 		JBrowse link
G Gpr156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:37814107 NCBI chr11:76,228,104...76,320,890
Ensembl chr11:76,228,104...76,320,890 		JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:20602914 PMID:22578326 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chr 2:199,015,250...199,063,788
Ensembl chr 2:199,015,250...199,063,056 		JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 7:70,280,360...70,415,277
Ensembl chr 7:70,285,310...70,415,274 		JBrowse link
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:20137778 PMID:24033266 PMID:25802247 PMID:28492532 PMID:30303587 More... NCBI chr14:40,358,077...40,480,493
Ensembl chr14:40,358,077...40,480,493 		JBrowse link
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr18:34,235,734...34,249,139
Ensembl chr18:34,235,734...34,371,894 		JBrowse link
G Gsdme gasdermin E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed 		CTD
ClinVar		 PMID:21782914 PMID:28492532 PMID:30311386 NCBI chr 4:80,590,344...80,651,943
Ensembl chr 4:80,588,614...80,641,525 		JBrowse link
G Hgf hepatocyte growth factor ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More... RGD:8548550 NCBI chr 4:19,628,902...19,700,467
Ensembl chr 4:19,632,267...19,700,851 		JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr 4:82,593,389...82,597,589
Ensembl chr 4:82,593,389...82,595,692 		JBrowse link
G Il10 interleukin 10 treatment IDA
ISO 		associated with Meningitis, Pneumococcal
associated with Autoimmune Diseases 		RGD PMID:22644021 PMID:21697956 RGD:7364829, RGD:7364842 NCBI chr13:45,024,921...45,029,586
Ensembl chr13:45,025,087...45,029,580 		JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:15641023 PMID:21255762 PMID:24033266 PMID:25741868 PMID:27610647 More... NCBI chr11:77,591,146...77,624,268
Ensembl chr11:77,569,621...77,624,140 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:23596069 PMID:24033266 PMID:25356970 PMID:25741868 PMID:26467025 More... NCBI chr19:56,867,096...56,886,151
Ensembl chr19:56,867,096...56,886,073 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar NCBI chr11:45,066,875...45,080,024
Ensembl chr11:45,064,162...45,081,247 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:87,334,216...87,368,678 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:19716085 PMID:23788249 PMID:25525159 PMID:25741868 PMID:27707468 More... NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072 		JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 5:139,560,366...139,612,212
Ensembl chr 5:139,560,366...139,612,102 		JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:16459341 PMID:25741868 PMID:28492532 PMID:30177809 PMID:30298622 More... NCBI chr20:6,634,058...6,644,264
Ensembl chr20:6,633,979...6,644,657 		JBrowse link
G Lmx1a LIM homeobox transcription factor 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29971487 NCBI chr13:82,367,493...82,511,157
Ensembl chr13:82,367,933...82,511,154 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:22341973 PMID:23804846 More... NCBI chr18:73,093,142...73,245,784
Ensembl chr18:73,093,142...73,245,784 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:27260575 PMID:28492532 More... NCBI chr 1:165,678,654...165,680,703
Ensembl chr 1:165,678,654...165,680,703 		JBrowse link
G Manba mannosidase beta ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:2079835 PMID:9384606 PMID:12468273 PMID:16199547 PMID:18565776 More... NCBI chr 2:226,583,968...226,676,520
Ensembl chr 2:226,583,917...226,676,517 		JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 PMID:28492532 PMID:30311386 PMID:30872814 NCBI chr 2:45,081,889...45,150,555
Ensembl chr 2:45,081,889...45,149,897 		JBrowse link
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:24033266 More... NCBI chr 2:33,474,750...33,498,225
Ensembl chr 2:33,462,950...33,498,077 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chr  X:156,932,481...156,995,981
Ensembl chr  X:156,941,234...156,943,560 		JBrowse link
G Mir96 microRNA 96 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment 		CTD
ClinVar		 PMID:19363478 PMID:19363479 PMID:30311386 NCBI chr 4:59,755,841...59,755,946 JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:8659547 PMID:9856573 PMID:25741868 NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:131,965,714...132,177,790 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:21270786 PMID:25741868 PMID:27981572 PMID:28492532 PMID:29961571 More... NCBI chr 8:54,244,920...54,256,064
Ensembl chr 8:54,243,556...54,256,074 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		CTD
ClinVar		 PMID:19650862 PMID:21185009 PMID:21782914 PMID:24033266 PMID:25741868 More... NCBI chr 7:58,188,827...58,311,459
Ensembl chr 7:57,968,124...58,311,116 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,124...15,266 		JBrowse link
G Mt-nd4 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:10,160...11,537
Ensembl chr MT:10,145...11,522 		JBrowse link
G Mt-nd5 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:11,736...13,565
Ensembl chr MT:11,721...13,553 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:21385350 RGD:7387225 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:21385350 RGD:7387225 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss ClinVar PMID:24033266 PMID:25741868 PMID:27393652 PMID:28492532 PMID:29293505 More... NCBI chr 1:104,232,778...104,295,369
Ensembl chr 1:104,232,778...104,323,404 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:18059020 PMID:24033266 PMID:28492532 PMID:30311386 PMID:30872814 More... NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:16199547 More... NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,776,907...45,835,473 		JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:36147510 More... NCBI chr17:89,451,567...89,667,654
Ensembl chr17:89,451,567...89,667,654 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar PMID:9536098 PMID:12687499 PMID:17576681 PMID:18348273 PMID:21078986 More... NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:89,967,377...90,122,215 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:8900236 PMID:9259201 PMID:10094549 PMID:10425080 PMID:10447383 More... NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:29922587 PMID:30311386 NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,828,014...44,853,394 		JBrowse link
G Nsdhl NAD(P) dependent 3-beta-hydroxysteroid dehydrogenase NSDHL ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr  X:155,817,301...155,848,224
Ensembl chr  X:155,817,340...155,848,220 		JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:18024279 NCBI chr 4:160,601,161...160,670,623
Ensembl chr 4:160,600,770...160,676,349 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... NCBI chr 1:185,074,271...185,142,149
Ensembl chr 1:185,074,268...185,141,658 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:19461658 More... NCBI chr 6:31,647,869...31,744,476
Ensembl chr 6:31,647,914...31,744,476 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:28492532 PMID:30303587 PMID:30311386 PMID:32048449 NCBI chr 1:105,882,747...105,951,825
Ensembl chr 1:105,882,747...105,951,824 		JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr 7:44,952,633...45,097,869
Ensembl chr 7:44,953,399...45,110,055 		JBrowse link
G Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:36130215 NCBI chr 7:74,413,609...74,850,487
Ensembl chr 7:74,413,590...74,850,487 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
G Pcdh15 protocadherin related 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		CTD
ClinVar		 PMID:24033266 PMID:25468891 PMID:25741868 PMID:28492532 PMID:30029624 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Pde5a phosphodiesterase 5A treatment IMP RGD PMID:22270721 RGD:7775056 NCBI chr 2:213,542,822...213,687,638
Ensembl chr 2:213,542,923...213,684,298 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:9536098 PMID:17576681 PMID:20440071 PMID:25741868 PMID:28492532 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 More... NCBI chr 3:82,002,106...82,012,273
Ensembl chr 3:82,002,368...82,012,451 		JBrowse link
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:25741868 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chr 8:105,196,312...105,306,252
Ensembl chr 8:105,197,455...105,292,447 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:610060 PMID:22855961 PMID:25741868 PMID:26151409 PMID:28492532 More... NCBI chr 9:22,233,318...22,237,430
Ensembl chr 9:22,233,305...22,237,428 		JBrowse link
G Polr1d RNA polymerase I and III subunit D ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr12:13,084,505...13,118,069
Ensembl chr12:13,084,512...13,095,627 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: X-linked nonsyndromic hearing loss ClinVar PMID:25741868 NCBI chr  X:79,974,808...79,976,085
Ensembl chr  X:79,974,627...79,987,326 		JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30303587 PMID:30311386 NCBI chr18:34,641,191...34,643,783
Ensembl chr18:34,641,191...34,643,783 		JBrowse link
G Prkg1 protein kinase cGMP-dependent 1 ISO RGD PMID:22270721 RGD:7775056 NCBI chr 1:237,818,950...239,052,184
Ensembl chr 1:237,823,053...239,103,005 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: X-linked nonsyndromic hearing loss ClinVar NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:108,920,651...108,942,711 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,757,181...28,783,421 		JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:30303587 PMID:30311386 NCBI chr 7:44,720,916...44,903,291
Ensembl chr 7:44,720,916...44,903,291 		JBrowse link
G Ptprs protein tyrosine phosphatase, receptor type, S ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr 9:1,332,558...1,394,161
Ensembl chr 9:1,332,559...1,394,093 		JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:30311386 NCBI chr 8:61,275,792...61,348,260
Ensembl chr 8:61,274,460...61,333,967 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12920075 NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B51 (human) RGD PMID:15855027 RGD:7364915 NCBI chr20:3,314,491...3,322,815 JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 8:117,236,269...117,265,206
Ensembl chr 8:117,236,269...117,265,206 		JBrowse link
G Serpinb6a serpin family B member 6A ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr17:31,076,811...31,195,035
Ensembl chr17:31,158,622...31,196,545 		JBrowse link
G Sf3b4 splicing factor 3B subunit 4 ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:25741868 NCBI chr 2:186,421,667...186,426,419
Ensembl chr 2:186,421,636...186,426,833 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chr10:17,422,906...17,538,977
Ensembl chr10:17,422,947...17,512,854 		JBrowse link
G Six1 SIX homeobox 1 ISO DNA:mutation:cds:c.373G >A(p.E125K)(human)
ClinVar Annotator: match by term: Hearing impairment
DNA:missense mutation:cds:p.E121G (mouse) 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:30311386 PMID:34906515 PMID:15141091 More... RGD:8554876, RGD:8554879 NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:97,482,617...97,487,853 		JBrowse link
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 PMID:28492532 PMID:32294086 PMID:32658972 NCBI chr18:53,546,263...53,614,478
Ensembl chr18:53,546,333...53,614,470 		JBrowse link
G Slc22a4 solute carrier family 22 member 4 ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:27023905 PMID:28492532 PMID:33643381 PMID:34194829 NCBI chr10:38,634,098...38,687,409
Ensembl chr10:38,634,098...38,679,920 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		CTD
ClinVar		 PMID:9070918 PMID:9398842 PMID:9500541 PMID:9536098 PMID:9618166 More... NCBI chr 6:53,835,102...53,873,968
Ensembl chr 6:53,835,110...53,873,216 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 no_association ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
DNA:snp:intron:IVS2-2A>G (human) 		CTD
ClinVar
RGD		 PMID:30311386 PMID:34273409 PMID:15319415 PMID:16086836 PMID:12719379 RGD:9479049, RGD:9479051, RGD:9479050 NCBI chr 4:14,102,492...14,141,520
Ensembl chr 4:14,102,492...14,141,847 		JBrowse link
G Slc29a3 solute carrier family 29 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr20:29,191,086...29,228,299
Ensembl chr20:29,191,127...29,228,299 		JBrowse link
G Slc33a1 solute carrier family 33 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 2:150,565,327...150,587,700
Ensembl chr 2:150,565,328...150,587,416 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr15:93,977,812...93,984,431
Ensembl chr15:93,969,038...93,984,526 		JBrowse link
G Smpx small muscle protein, X-linked ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr  X:41,049,354...41,107,323
Ensembl chr  X:41,049,356...41,107,137 		JBrowse link
G Sod1 superoxide dismutase 1 ISO CTD Direct Evidence: therapeutic CTD
RGD		 PMID:11474137 PMID:16055286 RGD:1581213 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr10:57,565,909...57,604,546
Ensembl chr10:57,565,909...57,604,498 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20712533 NCBI chr 9:56,911,522...56,951,926
Ensembl chr 9:56,911,523...57,077,346 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:30311386 NCBI chr 3:128,785,817...128,811,773
Ensembl chr 3:128,789,290...128,808,023 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr18:56,537,437...56,570,727
Ensembl chr18:56,537,437...56,570,727 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 8:51,604,974...51,676,745
Ensembl chr 8:51,604,975...51,676,722 		JBrowse link
G Thbs1 thrombospondin 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr 3:125,510,250...125,525,402
Ensembl chr 3:125,510,250...125,525,402 		JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment 		CTD
ClinVar		 PMID:21782914 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:231,136,218...231,264,750
Ensembl chr 1:231,136,243...231,264,750 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO associated with Meningitis,Bacterial; DNA:haplotype: :2477G>A(rs5743708)(human) RGD PMID:22662111 RGD:7800663 NCBI chr 2:171,499,189...171,504,831
Ensembl chr 2:171,497,060...171,520,194 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO associated with Meningitis,Bacterial; DNA:SNP,haplotype: :896A>G(rs4986790)(human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:21148032 PMID:22662111 RGD:7800663 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		JBrowse link
G Tlr9 toll-like receptor 9 ISO associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human) RGD PMID:22662111 RGD:7800663 NCBI chr 8:115,743,407...115,747,523
Ensembl chr 8:115,742,889...115,750,148 		JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:11850618 PMID:16134132 PMID:16199547 PMID:16287143 PMID:17877751 More... NCBI chr 1:227,701,781...227,872,534
Ensembl chr 1:227,701,781...227,872,534 		JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 More... NCBI chr 8:119,728,123...119,743,219
Ensembl chr 8:119,728,313...119,743,219 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:11137999 PMID:11424922 PMID:11462234 PMID:11907649 PMID:12920079 More... NCBI chr20:9,253,497...9,275,167
Ensembl chr20:9,255,467...9,275,720 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:82,391,340...82,476,131 		JBrowse link
G Tnf tumor necrosis factor ISO associated with Cytomegalovirus Infections;protein:increased expression:scala tympani: RGD PMID:22001951 RGD:7394702 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Togaram2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:20642360 PMID:38374469 NCBI chr 6:29,491,183...29,549,004
Ensembl chr 6:29,491,040...29,548,977 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:20170899 PMID:28492532 PMID:30303587 PMID:30311386 NCBI chr 3:28,474,322...28,481,800
Ensembl chr 3:28,473,620...28,482,117 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:16385457 PMID:16385458 PMID:20510926 PMID:24033266 PMID:25741868 More... NCBI chr 7:112,386,371...112,452,130
Ensembl chr 7:112,386,420...112,442,924 		JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr20:10,771,365...10,944,285
Ensembl chr20:10,771,371...10,943,708 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:9242509 More... NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:150,527,687...150,622,857 		JBrowse link
G Ucp2 uncoupling protein 2 IEP mRNA, protein:increased expression:cochlea (rat) RGD PMID:22543089 RGD:10045653 NCBI chr 1:164,251,373...164,257,742
Ensembl chr 1:164,251,373...164,257,743 		JBrowse link
G Ucp3 uncoupling protein 3 IEP mRNA, protein:increased expression:cochlea (rat) RGD PMID:22543089 RGD:10045653 NCBI chr 1:164,227,910...164,240,893
Ensembl chr 1:164,227,882...164,241,210 		JBrowse link
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:35575086 NCBI chr 1:143,691,183...143,705,944
Ensembl chr 1:143,691,186...143,707,312 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive 		ClinVar
RGD		 PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... RGD:8694454 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD		 PMID:24033266 PMID:25255398 PMID:25741868 PMID:27068579 PMID:27353947 More... NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss ClinVar
RGD		 PMID:2564938 PMID:10729113 PMID:10909849 PMID:14970843 PMID:15015129 More... RGD:8547954 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:11161832 PMID:11317350 PMID:12073007 PMID:15605410 PMID:22238590 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:20352026 PMID:22135276 PMID:23804846 PMID:24033266 PMID:25741868 More... NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
Hearing Loss, Cisplatin-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2a calcium/calmodulin-dependent protein kinase II alpha treatment IEP RGD PMID:23558232 RGD:9685025 NCBI chr18:56,648,779...56,711,505
Ensembl chr18:56,649,025...56,711,504 		JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta treatment IEP RGD PMID:23558232 RGD:9685025 NCBI chr14:85,059,166...85,148,121
Ensembl chr14:85,059,191...85,148,485 		JBrowse link
G Cat catalase IEP protein:decreased expression:cochlear: RGD PMID:10220857 RGD:9197256 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO RGD PMID:19666099 RGD:10045579 NCBI chr11:76,004,502...76,154,665
Ensembl chr11:76,009,507...76,153,249 		JBrowse link
Hearing Loss, Noise-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arc activity-regulated cytoskeleton-associated protein IEP RGD PMID:17275194 RGD:8655559 NCBI chr 7:108,444,959...108,448,413
Ensembl chr 7:108,444,692...108,451,220 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO
IEP 		protein:increased expression:cochlea: RGD PMID:19925854 PMID:22723694 PMID:17275194 RGD:8636263, RGD:8655575, RGD:8655559 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Calb1 calbindin 1 IEP RGD PMID:22428005 RGD:401940127 NCBI chr 5:34,172,612...34,199,555
Ensembl chr 5:34,172,664...34,200,160 		JBrowse link
G Cat catalase susceptibility
severity
treatment 		ISO DNA:SNPs,haplotype:: RGD PMID:17567781 PMID:18212468 PMID:23179931 RGD:9068906, RGD:9190810, RGD:9068923 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:cochlea (mouse) RGD PMID:17081714 RGD:8549464 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:17075702 RGD:8657356 NCBI chr 8:132,611,883...132,619,106
Ensembl chr 8:132,611,410...132,620,059 		JBrowse link
G Cdh23 cadherin-related 23 no_association ISO DNA:SNPs: :rs1227049, rs3802711 (human)
DNA:SNPs: :rs1227049, rs1227051 (human) 		RGD PMID:16598924 PMID:16598924 RGD:8662283, RGD:8662283 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:21187137 RGD:8661793 NCBI chr20:7,150,820...7,161,373
Ensembl chr20:7,153,958...7,164,969 		JBrowse link
G Cfi complement factor I IEP mRNA:increased expression:spiral organ of cochlea, sensory epithelium RGD PMID:23727008 RGD:8662317 NCBI chr 2:221,062,206...221,104,790
Ensembl chr 2:221,062,212...221,104,786 		JBrowse link
G Cntn1 contactin 1 IEP RGD PMID:22044737 RGD:5685697 NCBI chr 7:125,142,638...125,440,397
Ensembl chr 7:125,142,696...125,440,391 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 IEP RGD PMID:22428005 RGD:401940127 NCBI chr10:27,096,731...27,152,563
Ensembl chr10:27,096,740...27,152,442 		JBrowse link
G Gad1 glutamate decarboxylase 1 IEP RGD PMID:22428005 RGD:401940127 NCBI chr 3:75,777,260...75,818,099
Ensembl chr 3:75,777,534...75,818,759 		JBrowse link
G Gap43 growth associated protein 43 IEP RGD PMID:22428005 RGD:401940127 NCBI chr11:71,882,131...71,975,799
Ensembl chr11:71,882,131...71,975,797 		JBrowse link
G Gjb2 gap junction protein, beta 2 IEP protein:increased expression:cochlea: RGD PMID:15224875 RGD:7349367 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association 		ISO DNA:deletion, haplotype:cds (human)
DNA:deletion:cds (human) 		RGD PMID:19643173 PMID:16535824 RGD:7488956, RGD:7495798 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association 		ISO DNA:deletion:cds (human) RGD PMID:16535824 PMID:15811702 RGD:7495798, RGD:7794850 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21787680 RGD:8695948 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:SNP, haplotype: :rs1043618 (human) RGD PMID:17009596 RGD:8662466 NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,855,780...3,877,979 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO DNA:SNP, haplotype: :rs1061581 (human) RGD PMID:18813331 RGD:8662841 NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,855,780...3,877,979 		JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:SNP, haplotype: :rs2227956 (human) RGD PMID:17009596 RGD:8662466 NCBI chr20:3,853,496...3,860,223
Ensembl chr20:3,853,331...3,876,877 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IMP RGD PMID:19213042 RGD:8547577 NCBI chr 8:27,829,688...27,841,618
Ensembl chr 8:27,829,161...27,841,617 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:16585854 RGD:8549455 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Il6 interleukin 6 IEP RGD PMID:16429448 RGD:7829818 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noise induced hearing loss 		CTD
ClinVar		 PMID:7828904 PMID:9445165 PMID:12402336 PMID:14661677 PMID:14760488 More... NCBI chr11:45,066,875...45,080,024
Ensembl chr11:45,064,162...45,081,247 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823764 NCBI chr 1:207,721,134...208,054,073
Ensembl chr 1:207,721,131...208,054,072 		JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823764 NCBI chr 5:139,560,366...139,612,212
Ensembl chr 5:139,560,366...139,612,102 		JBrowse link
G Mir107 microRNA 107 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 1:241,750,418...241,750,504 JBrowse link
G Mir10a microRNA 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr10:81,779,709...81,779,818
Ensembl chr10:81,779,709...81,779,818 		JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr11:97,384,380...97,384,461
Ensembl chr11:97,384,380...97,384,461 		JBrowse link
G Mir146b microRNA 146b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 1:255,144,860...255,144,947
Ensembl chr 1:255,144,860...255,144,947 		JBrowse link
G Mir183 microRNA 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 4:59,756,044...59,756,153 JBrowse link
G Mir186 microRNA 186 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 2:249,241,650...249,241,735
Ensembl chr 2:249,241,650...249,241,735 		JBrowse link
G Mir190b microRNA 190b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 2:177,812,461...177,812,538
Ensembl chr 2:177,812,461...177,812,538 		JBrowse link
G Mir200c microRNA 200c ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 4:159,209,965...159,210,033 JBrowse link
G Mir30d microRNA 30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 7:102,025,345...102,025,426 JBrowse link
G Mir30e microRNA 30e ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 5:139,637,450...139,637,541
Ensembl chr 5:139,637,450...139,637,541 		JBrowse link
G Mir331 microRNA 331 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 7:30,414,386...30,414,481 JBrowse link
G Mir339 microRNA 339 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr12:20,391,395...20,391,490
Ensembl chr12:20,391,395...20,391,490 		JBrowse link
G Mir381 microRNA 381 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 6:134,562,381...134,562,441 JBrowse link
G Mir429 microRNA 429 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 5:171,929,682...171,929,766 JBrowse link
G Mir532 microRNA 532 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr  X:17,919,185...17,919,263
Ensembl chr  X:17,919,185...17,919,263 		JBrowse link
G Mir99b microRNA 99b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 1:67,350,064...67,350,133
Ensembl chr 1:67,350,060...67,350,139 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO RGD PMID:23100416 RGD:9685340 NCBI chr 8:13,133,043...13,140,761
Ensembl chr 8:13,133,043...13,140,755 		JBrowse link
G Nob1 NIN1 (RPN12) binding protein 1 homolog IEP mRNA:increased expression:cochlea RGD PMID:21219967 RGD:10766449 NCBI chr19:52,232,543...52,245,824
Ensembl chr19:52,232,543...52,256,189 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3, group C, member 1 IEP protein:increased expression:hippocampus RGD PMID:31071644 RGD:408364986 NCBI chr18:31,522,783...31,644,508
Ensembl chr18:31,522,783...31,643,843 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:exon:p.S326C (rs1052133) (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:24599382 PMID:24599382 RGD:8657374 NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:148,030,349...148,037,604 		JBrowse link
G Pon2 paraoxonase 2 susceptibility ISO DNA:SNPs: :multiple RGD PMID:23327886 RGD:8661240 NCBI chr 4:34,356,270...34,391,684
Ensembl chr 4:34,356,274...34,391,996 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:25108045 RGD:11100045 NCBI chr18:24,038,596...24,049,061
Ensembl chr18:24,038,597...24,048,964 		JBrowse link
G Ptger4 prostaglandin E receptor 4 resistance ISO RGD PMID:22198478 RGD:6483524 NCBI chr 2:56,061,699...56,074,594
Ensembl chr 2:56,062,890...56,074,135 		JBrowse link
G Sell selectin L IEP RGD PMID:22044737 RGD:5685697 NCBI chr13:78,950,100...78,969,604
Ensembl chr13:78,950,015...78,969,600 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO mRNA, protein:increased expression:cochlea (mouse) RGD PMID:24376553 RGD:9585684 NCBI chr 4:14,102,492...14,141,520
Ensembl chr 4:14,102,492...14,141,847 		JBrowse link
G Sod1 superoxide dismutase 1 susceptibility
severity 		ISO DNA:snps, haplotypes:introns:multiple (human)
DNA:snps:introns:IVS2+193T>G (rs10432782), IVS3-251A>G (rs2070424) (human) 		RGD PMID:19895330 PMID:10436316 PMID:22931816 RGD:8655611, RGD:8655966, RGD:8655851 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO DNA:polymorphisms:intron:IVS3-23T>G, IVS3-60T>G (human)
DNA:SNP:cds:p.V16A(rs4880)(human) 		RGD PMID:15345661 PMID:20534900 RGD:8158044, RGD:8158046 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:21840347 RGD:11554196 NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:166,511,985...166,559,462 		JBrowse link
G Taok1 TAO kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr10:62,871,198...62,989,049
Ensembl chr10:62,871,198...62,957,595 		JBrowse link
G Tnf tumor necrosis factor IEP mRNA:increased expression:cochlea: RGD PMID:19051071 RGD:7394705 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:25741868 NCBI chr 4:31,462,251...31,473,827
Ensembl chr 4:31,462,309...31,503,921 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:3196484 PMID:9398847 More... NCBI chr 4:31,474,670...31,513,621
Ensembl chr 4:31,470,845...31,513,811 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 PMID:33926089 NCBI chr 4:156,085,967...156,099,096
Ensembl chr 4:156,086,960...156,099,093 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:21,755,747...21,767,939
Ensembl chr 9:21,755,751...21,767,908 		JBrowse link
HID Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
high myopia-sensorineural deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slitrk6 SLIT and NTRK-like family, member 6 ISO
ISS 		ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome | ClinVar Annotator: match by term: SLITRK6-related condition
OMIM:221200 		OMIM
ClinVar
MouseDO		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chr15:93,977,812...93,984,431
Ensembl chr15:93,969,038...93,984,526 		JBrowse link
High-Frequency Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnf tumor necrosis factor ISO RGD PMID:23996384 RGD:7394699 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
histiocytosis-lymphadenopathy plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc29a3 solute carrier family 29 member 3 ISO ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chr20:29,191,086...29,228,299
Ensembl chr20:29,191,127...29,228,299 		JBrowse link
Hittner Hirsch Kreh Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:15300250 PMID:16155193 PMID:16400610 PMID:16615981 More... NCBI chr 5:26,609,245...26,792,736
Ensembl chr 5:26,609,407...26,792,734 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:29300383 NCBI chr 7:114,987,857...115,058,652
Ensembl chr 7:114,946,982...115,058,574 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:25741868 PMID:29300383 NCBI chr 7:109,663,490...109,674,443
Ensembl chr 7:109,663,490...109,674,724 		JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:15235037 PMID:17576681 PMID:25741868 PMID:25985275 More... NCBI chr 4:21,252,686...21,510,449
Ensembl chr 4:21,210,734...21,510,374 		JBrowse link
Hypokalemic Tubulopathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 ISO ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness OMIM
ClinVar		 PMID:25741868 PMID:33811157 NCBI chr10:96,489,329...96,520,745
Ensembl chr10:96,460,331...96,566,075 		JBrowse link
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata3 GATA binding protein 3 ISO
ISS 		ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
OMIM:146255
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chr17:73,544,234...73,575,670
Ensembl chr17:73,553,548...73,575,670 		JBrowse link
ICHAD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikzf2 IKAROS family zinc finger 2 ISO ClinVar Annotator: match by term: ICHAD SYNDROME ClinVar
OMIM		 PMID:37316189 NCBI chr 9:78,495,670...78,640,896
Ensembl chr 9:78,492,275...78,640,463 		JBrowse link
Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISO ClinVar Annotator: match by term: AP1B1-related disorder | ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome OMIM
ClinVar		 PMID:25741868 PMID:31630788 PMID:31630791 PMID:32969855 PMID:33349978 More... NCBI chr14:84,093,529...84,144,835
Ensembl chr14:84,093,559...84,144,892 		JBrowse link
Insulin-Like Growth Factor I Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igf1 insulin-like growth factor 1 ISO ClinVar Annotator: match by term: Growth retardation with sensorineural deafness and mental retardation
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8857020 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr15:54,955,549...54,978,455
Ensembl chr15:54,955,552...54,978,455 		JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt-like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders 		OMIM
CTD
ClinVar		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr 3:177,891,705...177,909,743
Ensembl chr 3:177,891,705...177,909,743 		JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness | ClinVar Annotator: match by term: UBR1-related condition
OMIM:243800
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
DNA:splice-site mutation:cds:IVS26+5G>A (human) 		OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More... RGD:155882463, RGD:155882462 NCBI chr 3:128,265,160...128,377,830
Ensembl chr 3:128,265,115...128,375,671 		JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: GPC4-related condition | ClinVar Annotator: match by term: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:136,565,536...136,676,142
Ensembl chr  X:136,565,591...136,676,057 		JBrowse link
Keratitis-Ichthyosis-Deafness Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:22567369 PMID:25741868 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps33b VPS33B, late endosome and lysosome associated ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive OMIM
ClinVar		 PMID:8151641 PMID:9536098 PMID:11668108 PMID:15052268 PMID:16199547 More... NCBI chr 1:143,633,167...143,656,228
Ensembl chr 1:143,633,197...143,659,552 		JBrowse link
Kilquist Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Kilquist syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30740830 PMID:32294086 PMID:32658972 More... NCBI chr18:53,546,263...53,614,478
Ensembl chr18:53,546,333...53,614,470 		JBrowse link
lacrimoauriculodentodigital syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISS OMIM:149730 MouseDO NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: LADD syndrome 1 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 OMIM
ClinVar		 PMID:7719344 PMID:8651276 PMID:9002682 PMID:9462761 PMID:9719378 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 1 ClinVar PMID:8078586 PMID:8723101 PMID:17033969 PMID:17256796 PMID:17320202 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
lacrimoauriculodentodigital syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD SYNDROME 2 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 OMIM
ClinVar		 PMID:1908846 PMID:7649548 PMID:7670477 PMID:7702086 PMID:7773297 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
lacrimoauriculodentodigital syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: LADD syndrome 3 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 OMIM
ClinVar		 PMID:15654336 PMID:16501574 PMID:16630169 PMID:25741868 PMID:28492532 More... NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
LADD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome 		CTD
ClinVar		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness OMIM
ClinVar		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24824130 More... NCBI chr19:56,867,096...56,886,151
Ensembl chr19:56,867,096...56,886,073 		JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome ClinVar
OMIM		 PMID:7704014 PMID:9536098 PMID:17576681 PMID:19966286 PMID:21157497 More... NCBI chr 1:104,161,984...104,178,074
Ensembl chr 1:104,162,016...104,172,982 		JBrowse link
Marshall syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain susceptibility ISO DNA:SNP:splice junction:
ClinVar Annotator: match by term: Marshall syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD
RGD		 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More... RGD:1600881 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:34,003,905...34,164,543 		JBrowse link
G Col9a2 collagen type IX alpha 2 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:139,892,798...139,910,131
Ensembl chr 5:139,892,798...139,909,855 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:188,089,337...188,112,034
Ensembl chr 3:188,089,403...188,112,270 		JBrowse link
G Gzf1 GDNF-inducible zinc finger protein 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:156,572,152...156,584,369
Ensembl chr 3:156,572,250...156,584,363 		JBrowse link
G Kcnj13 potassium inwardly-rectifying channel, subfamily J, member 13 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:95,509,228...95,528,400
Ensembl chr 9:95,510,877...95,520,817 		JBrowse link
G Loxl3 lysyl oxidase-like 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:117,098,358...117,114,673
Ensembl chr 4:117,099,635...117,115,046 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G P3h2 prolyl 3-hydroxylase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:88,139,086...88,280,221
Ensembl chr11:88,139,078...88,281,203 		JBrowse link
G Plod3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:25,313,070...25,323,631
Ensembl chr12:25,313,072...25,323,631 		JBrowse link
G Slc26a2 solute carrier family 26 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:56,918,662...56,937,032
Ensembl chr18:56,923,337...56,937,012 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:93,977,812...93,984,431
Ensembl chr15:93,969,038...93,984,526 		JBrowse link
G Vcan versican ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:22,497,035...22,595,955
Ensembl chr 2:22,497,035...22,595,955 		JBrowse link
G Xylt2 xylosyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:80,102,776...80,116,346
Ensembl chr10:80,102,873...80,116,257 		JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Bilateral microtia-deafness-cleft palate syndrome | ClinVar Annotator: match by term: HOXA2-related disorder | ClinVar Annotator: match by term: Microtia with or without hearing impairment
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 PMID:25741868 NCBI chr 4:82,593,389...82,597,589
Ensembl chr 4:82,593,389...82,595,692 		JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ammecr1 AMMECR nuclear protein 1 ISO ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis OMIM
ClinVar		 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 PMID:29174631 More... NCBI chr  X:111,262,792...111,368,099
Ensembl chr  X:111,262,792...111,368,099 		JBrowse link
Mitchell syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-CoA oxidase 1 ISO ClinVar Annotator: match by term: Mitchell syndrome OMIM
ClinVar		 PMID:8040306 PMID:16199547 PMID:17458872 PMID:25741868 PMID:28492532 More... NCBI chr10:101,905,083...101,930,136
Ensembl chr10:101,905,083...101,930,136 		JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnpla8 patatin-like phospholipase domain containing 8 ISO ClinVar Annotator: match by term: Mitochondrial myopathy-lactic acidosis-deafness syndrome | ClinVar Annotator: match by term: PNPLA8-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More... NCBI chr 6:67,056,783...67,118,714
Ensembl chr 6:67,056,697...67,120,512 		JBrowse link
mitochondrial nonsyndromic sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Mitochondrial non-syndromic sensorineural hearing loss ClinVar PMID:17637808 PMID:22241583 PMID:25741868 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685 		JBrowse link
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: GFER-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 More... NCBI chr10:14,223,023...14,225,736
Ensembl chr10:14,223,023...14,225,935 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr 1:93,420,078...93,551,305
Ensembl chr 1:93,420,078...93,551,305 		JBrowse link
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen activated protein kinase kinase kinase 7 ISO ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome | ClinVar Annotator: match by term: MAP3K7-related disorder
DNA:missense mutations, deletions:CDS:multiple (human) 		OMIM
ClinVar
RGD		 PMID:20186786 PMID:25741868 PMID:27426733 PMID:27426734 PMID:28492532 More... RGD:11552967 NCBI chr 5:51,149,524...51,212,012
Ensembl chr 5:51,154,352...51,212,012 		JBrowse link
Muckle-Wells syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:22146561 RGD:6906895 NCBI chr 3:27,509,836...27,525,738
Ensembl chr 3:27,509,798...27,525,732 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome OMIM
ClinVar		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr10:44,826,299...44,853,373
Ensembl chr10:44,828,014...44,853,394 		JBrowse link
multiple epiphyseal dysplasia with myopia and deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
Multiple mitochondrial dysfunctions syndrome 9A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: FDXR-related condition | ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 9A OMIM
ClinVar		 PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 More... NCBI chr10:101,006,845...101,015,582
Ensembl chr10:101,006,849...101,015,542 		JBrowse link
multiple synostoses syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar PMID:25741868 NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO DNA:missense mutation:cds:p.R438L(1313G>T)(human)
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome 		ClinVar
RGD		 PMID:16532400 RGD:12738199 NCBI chr 3:164,914,401...164,918,593
Ensembl chr 3:164,914,401...164,918,593 		JBrowse link
G Nog noggin ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human) 		ClinVar
OMIM
RGD		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome OMIM
ClinVar		 PMID:25741868 PMID:32403198 PMID:35869884 NCBI chr17:55,958,750...55,982,762
Ensembl chr17:55,958,755...55,971,709 		JBrowse link
MYH-9 related disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO
ISS 		DNA:missense mutation:exon:p.R702H(human)
ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome
OMIM:155100
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.R702C(mouse)
DNA:mutation:exon:p.E1841K(human)
DNA:missense mutations:exons:multiple 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... RGD:6902926, RGD:11533924, RGD:11532766, RGD:6903235 NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 3:183,666,189...183,675,656
Ensembl chr 3:183,666,242...183,674,795 		JBrowse link
NEURODEGENERATION, EARLY-CHILDHOOD-ONSET, WITH RETINITIS PIGMENTOSA, SENSORINEURAL HEARING LOSS, AND DEMYELINATING PERIPHERAL NEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klc4 kinesin light chain 4 ISO ClinVar Annotator: match by term: Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy ClinVar
OMIM		 PMID:26423925 NCBI chr 9:21,834,765...21,848,676
Ensembl chr 9:21,835,092...21,848,675 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder | ClinVar Annotator: match by term: SPATA5L1-related disorder OMIM
ClinVar		 PMID:25741868 PMID:26138355 PMID:28492532 PMID:34626583 PMID:37902276 More... NCBI chr 3:130,148,061...130,162,458
Ensembl chr 3:130,148,301...130,162,112 		JBrowse link
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2a AFG2 AAA ATPase homolog A ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr 2:122,234,619...122,425,808
Ensembl chr 2:122,234,738...122,425,808 		JBrowse link
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmc1 proteasome 26S subunit, ATPase 1 ISO OMIM NCBI chr 6:125,122,497...125,134,859
Ensembl chr 6:125,122,490...125,134,858 		JBrowse link
nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:13680526 PMID:19477959 PMID:30311386 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		JBrowse link
G Alg10 ALG10, alpha-1,2-glucosyltransferase ISS MouseDO NCBI chr 7:123,214,636...123,225,104
Ensembl chr 7:123,214,636...123,225,104 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:28492532 NCBI chr 1:210,804,111...210,809,941
Ensembl chr 1:210,804,096...210,809,940 		JBrowse link
G Ccdc50 coiled-coil domain containing 50 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr11:86,837,624...86,900,164
Ensembl chr11:86,837,624...86,899,980 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:15660226 PMID:16679490 PMID:17850630 PMID:18429043 PMID:19683999 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Cgn cingulin ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 NCBI chr 2:184,997,425...185,024,785
Ensembl chr 2:184,997,425...185,023,635 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 PMID:34265170 NCBI chr10:13,218,728...13,220,159
Ensembl chr10:13,218,729...13,220,178 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:24033266 PMID:25633957 PMID:25741868 PMID:28492532 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:28492532 PMID:30311386 NCBI chr  X:109,907,251...110,111,214
Ensembl chr  X:109,907,346...110,111,214 		JBrowse link
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:16244493 PMID:25601850 NCBI chr17:40,274,009...40,459,757
Ensembl chr17:40,274,009...40,458,790 		JBrowse link
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 PMID:28492532 PMID:32870266 NCBI chr 8:63,637,314...63,803,911
Ensembl chr 8:63,637,314...63,781,116 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:30311386 NCBI chr 1:23,991,431...24,235,132
Ensembl chr 1:23,991,431...24,235,131 		JBrowse link
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr 7:9,026,905...9,034,005
Ensembl chr 7:9,026,905...9,034,795 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:144,933,692...144,939,435
Ensembl chr 5:144,933,696...144,940,280 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 NCBI chr15:35,400,147...35,410,649
Ensembl chr15:35,398,770...35,410,849 		JBrowse link
G Gsdme gasdermin E ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:7427029 PMID:15173223 PMID:17427029 PMID:24033266 PMID:28492532 More... NCBI chr 4:80,590,344...80,651,943
Ensembl chr 4:80,588,614...80,641,525 		JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr11:77,591,146...77,624,268
Ensembl chr11:77,569,621...77,624,140 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:21181198 PMID:23768514 PMID:24824130 PMID:25741868 NCBI chr19:56,867,096...56,886,151
Ensembl chr19:56,867,096...56,886,073 		JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8035838 PMID:10025409 PMID:10369879 PMID:18786918 PMID:20832469 More... NCBI chr 5:139,560,366...139,612,212
Ensembl chr 5:139,560,366...139,612,102 		JBrowse link
G Klc2 kinesin light chain 2 ISS MouseDO NCBI chr 1:211,843,927...211,854,160
Ensembl chr 1:211,843,929...211,854,160 		JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:23541342 PMID:30311386 NCBI chr 8:131,887,728...131,983,866
Ensembl chr 8:131,887,753...131,983,866 		JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr20:6,634,058...6,644,264
Ensembl chr20:6,633,979...6,644,657 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:19732867 PMID:21465660 PMID:22975204 PMID:23226338 PMID:24033266 More... NCBI chr18:73,093,142...73,245,784
Ensembl chr18:73,093,142...73,245,784 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive ClinVar PMID:25741868 PMID:25941349 PMID:28492532 NCBI chr 4:46,756,823...46,864,041
Ensembl chr 4:46,756,506...46,870,821 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8659547 PMID:20127975 PMID:25741868 PMID:28492532 PMID:28690485 More... NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:131,965,714...132,177,790 		JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Nonsyndromic hearing impairment ClinVar PMID:28492532 NCBI chr 5:100,812,121...100,966,566
Ensembl chr 5:100,812,124...100,966,504 		JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr14:77,185,802...77,189,735
Ensembl chr14:77,185,802...77,189,735 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr 1:104,232,778...104,295,369
Ensembl chr 1:104,232,778...104,323,404 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:7704031 PMID:9603736 PMID:11735029 PMID:17546645 PMID:19274735 More... NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,776,907...45,835,473 		JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr17:89,451,567...89,667,654
Ensembl chr17:89,451,567...89,667,654 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:12687499 PMID:18348273 PMID:23767834 PMID:24033266 PMID:25080041 More... NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:89,967,377...90,122,215 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8900236 PMID:9382091 PMID:10094549 PMID:10930322 PMID:15028842 More... NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:185,074,271...185,142,149
Ensembl chr 1:185,074,268...185,141,658 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8789454 PMID:10192385 PMID:10903124 PMID:12114484 PMID:12127154 More... NCBI chr 6:31,647,869...31,744,476
Ensembl chr 6:31,647,914...31,744,476 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:24033266 NCBI chr 1:105,882,747...105,951,825
Ensembl chr 1:105,882,747...105,951,824 		JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:16199547 PMID:23122586 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:44,952,633...45,097,869
Ensembl chr 7:44,953,399...45,110,055 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28281779 PMID:28492532 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 PMID:30311386 NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:24033266 PMID:33976695 NCBI chr  X:79,974,808...79,976,085
Ensembl chr  X:79,974,627...79,987,326 		JBrowse link
G Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 ISS MouseDO NCBI chr 9:105,727,906...105,838,159
Ensembl chr 9:105,727,911...105,838,157 		JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr 8:61,275,792...61,348,260
Ensembl chr 8:61,274,460...61,333,967 		JBrowse link
G Ripor2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr17:40,751,771...40,975,611
Ensembl chr17:40,751,771...40,975,337 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:15355436 PMID:16570074 PMID:19017801 PMID:19509082 PMID:21045265 More... NCBI chr 6:53,835,102...53,873,968
Ensembl chr 6:53,835,110...53,873,216 		JBrowse link
G Slc44a4 solute carrier family 44, member 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr20:3,907,737...3,923,911
Ensembl chr20:3,907,737...3,923,854 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 PMID:29425068 More... NCBI chr 3:128,785,817...128,811,773
Ensembl chr 3:128,789,290...128,808,023 		JBrowse link
G Syne4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:16199547 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 1:94,696,866...94,701,230
Ensembl chr 1:94,696,609...94,701,230 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human) RGD PMID:26371875 RGD:11098120 NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,714,833...13,740,473 		JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 4:120,175,549...120,258,342
Ensembl chr 4:120,175,593...120,258,339 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness 		ClinVar PMID:9536098 PMID:16134132 PMID:16287143 PMID:17576681 PMID:18616530 More... NCBI chr 1:227,701,781...227,872,534
Ensembl chr 1:227,701,781...227,872,534 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11907649 PMID:12920079 PMID:15447792 PMID:16021470 PMID:16283880 More... NCBI chr20:9,253,497...9,275,167
Ensembl chr20:9,255,467...9,275,720 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:25741868 NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:82,391,340...82,476,131 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:16385458 PMID:24033266 PMID:25741868 NCBI chr 7:112,386,371...112,452,130
Ensembl chr 7:112,386,420...112,442,924 		JBrowse link
G Ush2a usherin ISO DNA:missense mutations, frameshift mutation, snp:cds, intron:multiple (human)
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness 		ClinVar
RGD		 PMID:2525289 PMID:10729113 PMID:10909849 PMID:12525556 PMID:15823922 More... RGD:8548458 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISS
ISO 		ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness MouseDO
ClinVar		 PMID:16648378 PMID:17492394 PMID:18544103 PMID:20301750 PMID:21917145 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
Nonsyndromic Deafness, Modifier 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mettl13 methyltransferase 13, eEF1A N-terminus and K55 ISO ClinVar Annotator: match by term: DFNM1 ClinVar
OMIM		 PMID:29408807 NCBI chr13:77,419,393...77,433,228
Ensembl chr13:77,419,397...77,433,104 		JBrowse link
Nonsyndromic Sensorineural Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 6:74,766,485...74,780,504
Ensembl chr 6:74,766,419...74,780,502 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 1:23,991,431...24,235,132
Ensembl chr 1:23,991,431...24,235,131 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO DNA:mutations:cds:c.30C>T,c.71T>G(human) RGD PMID:11741837 RGD:1578475 NCBI chr20:36,302,490...36,315,010
Ensembl chr20:36,302,352...36,319,689 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss
DNA:missense mutations,deletion:cds:
DNA:misssense mutations,deletion:cds:
DNA:mutations:cds:c.35delG,p.W24X(human)
DNA:mutations:cds:c.235delC,p.Y136X,P.R143W(human) 		ClinVar
RGD		 PMID:10376574 PMID:11102979 PMID:11216656 PMID:11313763 PMID:11493200 More... RGD:7364796, RGD:7364892, RGD:7364888, RGD:7364883, RGD:7364823, RGD:7364817, RGD:7364812, RGD:7364803, RGD:7364798 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
G Gjb3 gap junction protein, beta 3 no_association ISO DNA:nonsense mutation, missense mutation:cds:p.A180X, p.Q183K (human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant
DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human)
DNA:missense mutations:cds:p.N166S, p.A194T (human) 		ClinVar
RGD		 PMID:9843210 PMID:15276679 PMID:19050930 RGD:1300214, RGD:12050154, RGD:7364900 NCBI chr 5:144,933,692...144,939,435
Ensembl chr 5:144,933,696...144,940,280 		JBrowse link
G Gjb6 gap junction protein, beta 6 no_association ISO DNA:mutations:multiple:
DNA:del::GJB6-D13S1854(human)
DNA:del:cds:del(GJB6-D13S1830) 		RGD PMID:23554706 PMID:21227513 PMID:22186156 PMID:23668481 PMID:20022641 RGD:7364803, RGD:7364892, RGD:7364891, RGD:7364817, RGD:7364812 NCBI chr15:35,400,147...35,410,649
Ensembl chr15:35,398,770...35,410,849 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:28492532 NCBI chr 1:104,232,778...104,295,369
Ensembl chr 1:104,232,778...104,323,404 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:mutation:cds:p.R705H(human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant 		ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:11023810 RGD:11533925 NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 NCBI chr 7:65,424,206...65,443,227
Ensembl chr 7:65,428,258...65,443,213 		JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr17:89,451,567...89,667,654
Ensembl chr17:89,451,567...89,667,654 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:89,967,377...90,122,215 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 1:185,074,271...185,142,149
Ensembl chr 1:185,074,268...185,141,658 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:23804846 PMID:25741868 PMID:26226137 PMID:28492532 PMID:30029624 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) RGD PMID:23084290 RGD:11554169 NCBI chr14:107,078,486...107,109,628
Ensembl chr14:107,078,469...107,109,628 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 6:97,482,617...97,487,853
Ensembl chr 6:97,482,617...97,487,853 		JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 NCBI chr 7:25,881,557...25,936,837
Ensembl chr 7:25,881,557...25,935,410 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO DNA:snp:intron:IVS2-2A>G (human) RGD PMID:23554706 RGD:7364803 NCBI chr 4:14,102,492...14,141,520
Ensembl chr 4:14,102,492...14,141,847 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 3:128,785,817...128,811,773
Ensembl chr 3:128,789,290...128,808,023 		JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:231,136,218...231,264,750
Ensembl chr 1:231,136,243...231,264,750 		JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 1:227,701,781...227,872,534
Ensembl chr 1:227,701,781...227,872,534 		JBrowse link
G Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 susceptibility ISO DNA:SNP:exon:rs35725509(human) RGD PMID:27311106 RGD:11252147 NCBI chr 7:42,280,746...42,695,651
Ensembl chr 7:42,280,746...42,693,350 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:28492532 PMID:30029624 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:131,965,714...132,177,790 		JBrowse link
Odontochondrodysplasia 2 with Hearing Loss and Diabetes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mia3 MIA SH3 domain ER export factor 3 ISO ClinVar Annotator: match by term: Odontochondrodysplasia 2 with hearing loss and diabetes OMIM
ClinVar		 PMID:25741868 NCBI chr13:97,502,040...97,547,155
Ensembl chr13:97,494,275...97,543,587 		JBrowse link
Osteootohepatoenteric Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Osteootohepatoenteric syndrome | ClinVar Annotator: match by term: UNC45A-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 NCBI chr 1:143,691,183...143,705,944
Ensembl chr 1:143,691,186...143,707,312 		JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO
ISS 		ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive
OMIM:215150
DNA:missense mutation:exon:p.G175R (human)
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:7859284 PMID:9188673 PMID:9536098 PMID:10677296 PMID:15558753 More... RGD:12904710 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive 		CTD
ClinVar		 PMID:16189708 PMID:25326635 PMID:25741868 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
palmoplantar keratoderma-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma ClinVar PMID:25741868 NCBI chr18:11,948,098...11,980,455
Ensembl chr18:11,949,488...11,980,451 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G130V(human)
DNA:misense mutation:cds:c.224G>A (p.R75Q)(human)
DNA:mutation:cds:p.H73R(human)
DNA:missense mutation:cds:p.S183F(human) 		OMIM
ClinVar
CTD
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... RGD:11097846, RGD:11568636, RGD:7364819, RGD:7364814 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
Paragangliomas with Sensorineural Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 8:59,841,090...59,850,641
Ensembl chr 8:59,841,090...59,850,641 		JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 PMID:35802133 PMID:36633841 NCBI chr10:13,218,728...13,220,159
Ensembl chr10:13,218,729...13,220,178 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr18:29,920,889...30,020,280
Ensembl chr18:29,920,889...30,020,280 		JBrowse link
G Foxi1 forkhead box I1 ISO
ISS 		CTD Direct Evidence: marker/mechanism
OMIM:274600
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome 		CTD
MouseDO
ClinVar		 PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:19,310,466...19,314,405
Ensembl chr10:19,310,482...19,314,405 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome 		CTD
ClinVar		 PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More... NCBI chr13:87,334,510...87,367,747
Ensembl chr13:87,334,216...87,368,678 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 6:31,647,869...31,744,476
Ensembl chr 6:31,647,914...31,744,476 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO
ISS 		ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: Pendred's syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition | ClinVar Annotator: match by term: THYROID DYSHORMONOGENESIS 2B
OMIM:274600
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7421514, RGD:7421510, RGD:7411554 NCBI chr 6:53,835,102...53,873,968
Ensembl chr 6:53,835,110...53,873,216 		JBrowse link
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome OMIM
ClinVar		 PMID:15015131 PMID:21480433 PMID:23806086 PMID:24033266 PMID:24088041 More... NCBI chr 1:104,232,778...104,295,369
Ensembl chr 1:104,232,778...104,323,404 		JBrowse link
Perrault syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISS
ISO 		OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
ClinVar Annotator: match by term: Perrault syndrome 		MouseDO
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 NCBI chr 9:1,917,305...1,924,706
Ensembl chr 9:1,918,682...1,924,705 		JBrowse link
G Eral1 Era-like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr10:63,459,774...63,466,829
Ensembl chr10:63,459,774...63,468,225 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr18:28,672,810...28,682,367
Ensembl chr18:28,672,824...28,682,359 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr18:45,515,427...45,604,467
Ensembl chr18:45,515,373...45,604,467 		JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:25741868 PMID:28492532 PMID:29205794 PMID:30311386 More... NCBI chr 8:131,887,728...131,983,866
Ensembl chr 8:131,887,753...131,983,866 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 More... NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:253,817,564...253,824,162 		JBrowse link
Perrault Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:30311386 NCBI chr 9:1,917,305...1,924,706
Ensembl chr 9:1,918,682...1,924,705 		JBrowse link
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:39701103 NCBI chr 2:176,617,151...176,645,293
Ensembl chr 2:176,617,155...176,644,270 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr 3:133,007,693...133,204,277
Ensembl chr 3:133,008,361...133,204,283 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:10,952,329...11,160,288
Ensembl chr 6:10,952,329...11,160,288 		JBrowse link
G Gpn2 GPN-loop GTPase 2 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar NCBI chr 5:151,093,279...151,101,114
Ensembl chr 5:151,093,418...151,101,111 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr18:45,515,427...45,604,467
Ensembl chr18:45,515,373...45,604,467 		JBrowse link
G Mrpl49 mitochondrial ribosomal protein L49 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:40043708 NCBI chr 1:212,775,357...212,779,364
Ensembl chr 1:212,775,357...212,779,888 		JBrowse link
Perrault syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: HARS2-related condition | ClinVar Annotator: match by term: Perrault syndrome 2 OMIM
ClinVar		 PMID:517579 PMID:16199547 PMID:21464306 PMID:24033266 PMID:25741868 More... NCBI chr18:28,672,810...28,682,367
Ensembl chr18:28,672,824...28,682,359 		JBrowse link
Perrault Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: CLPP-related condition | ClinVar Annotator: match by term: Perrault syndrome 3 OMIM
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:23851121 More... NCBI chr 9:1,917,305...1,924,706
Ensembl chr 9:1,918,682...1,924,705 		JBrowse link
Perrault Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome 4 OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26657938 More... NCBI chr 8:131,887,728...131,983,866
Ensembl chr 8:131,887,753...131,983,866 		JBrowse link
Perrault Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome 5 OMIM
ClinVar		 PMID:18593709 PMID:21270786 PMID:25355836 PMID:25741868 PMID:26467025 More... NCBI chr 1:253,817,074...253,823,958
Ensembl chr 1:253,817,564...253,824,162 		JBrowse link
Perrault syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eral1 Era-like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:28449065 NCBI chr10:63,459,774...63,466,829
Ensembl chr10:63,459,774...63,468,225 		JBrowse link
Perrault syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dap3 death associated protein 3 ISO ClinVar Annotator: match by term: Perrault syndrome 7 OMIM
ClinVar		 PMID:39701103 NCBI chr 2:176,617,151...176,645,293
Ensembl chr 2:176,617,155...176,644,270 		JBrowse link
Presbycusis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:106,118,106...106,120,951
Ensembl chr10:106,118,108...106,120,951 		JBrowse link
G Actg1l1 actin, gamma 1 like 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 3:93,434,045...93,435,969
Ensembl chr 3:93,434,045...93,474,629 		JBrowse link
G Aqp4 aquaporin 4 severity ISO RGD PMID:19070604 RGD:8695953 NCBI chr18:6,782,389...6,799,034
Ensembl chr18:6,782,389...6,799,098 		JBrowse link
G Bdnf brain-derived neurotrophic factor IEP mRNA:decreased expression:cochlea RGD PMID:17168119 RGD:8655551 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO mRNA, protein:decreased expression:cochlea RGD PMID:23470431 RGD:10045570 NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,233,690...5,674,692 		JBrowse link
G Cat catalase ISO RGD PMID:11678164 RGD:8655636 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		JBrowse link
G Cdh23 cadherin-related 23 no_association ISO DNA:SNP:intron:g.72996763C>T (rs7087735) (human) RGD PMID:12910270 PMID:22581638 RGD:737781, RGD:8662287 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Edn1 endothelin 1 susceptibility ISO DNA:missense mutation:cds:p.L198N (rs5370) (human) RGD PMID:19358249 RGD:8661662 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association 		ISO DNA:deletion:cds (human) RGD PMID:17513527 PMID:15891640 RGD:7495801, RGD:7495803 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association 		ISO DNA:deletion:cds (human) RGD PMID:22965834 PMID:15891640 RGD:7794838, RGD:7495803 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO RGD PMID:24587312 RGD:10402574 NCBI chr12:26,430,640...26,432,301
Ensembl chr12:26,430,640...26,432,301 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO RGD PMID:22652460 RGD:8662870 NCBI chr 9:49,879,928...49,920,374
Ensembl chr 9:49,877,266...49,920,374 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism: : RGD PMID:16369173 RGD:8552649 NCBI chr16:26,974,874...27,005,191
Ensembl chr16:26,974,601...26,976,304 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO RGD PMID:21664445 RGD:8694161 NCBI chr 1:142,792,119...142,808,933
Ensembl chr 1:142,792,119...142,808,838 		JBrowse link
G Sirt3 sirtuin 3 IEP protein:decreased expression:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chr 1:205,371,703...205,394,145
Ensembl chr 1:205,371,710...205,394,076 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 IEP protein:altered expression:cochlear outer hair cell (rat) RGD PMID:19111601 RGD:9585690 NCBI chr 4:14,102,492...14,141,520
Ensembl chr 4:14,102,492...14,141,847 		JBrowse link
G Sod1 superoxide dismutase 1 severity ISO mRNA:increased expression:cochlea (mouse) RGD PMID:11678164 PMID:10464373 RGD:8655636, RGD:8655665 NCBI chr11:42,942,742...42,948,399
Ensembl chr11:42,942,678...42,948,399 		JBrowse link
G Sod2 superoxide dismutase 2 IEP protein:decreased expression,decreased activity:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO DNA:mutation:cds:c.533C>T (p.S178L)(human) RGD PMID:24729539 RGD:11537394 NCBI chr10:13,711,930...13,740,902
Ensembl chr10:13,714,833...13,740,473 		JBrowse link
G Tyr tyrosinase treatment
onset 		ISO associated with Albinism; RGD PMID:19843244 PMID:19141317 RGD:8694324, RGD:8694327 NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:150,527,687...150,622,857 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:25741868 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM
ClinVar		 PMID:8279480 PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 More... NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670 		JBrowse link
Sensorineural Deafness with Hypertrophic Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome ClinVar PMID:15060111 PMID:18212818 PMID:18348273 PMID:24033266 PMID:28492532 NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:89,967,377...90,122,215 		JBrowse link
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr 5:126,480,590...126,489,389
Ensembl chr 5:126,480,592...126,489,389 		JBrowse link
sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685646 NCBI chr12:16,776,664...16,779,634
Ensembl chr12:16,776,661...16,780,242 		JBrowse link
G Adprs ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 5:143,898,542...143,903,816
Ensembl chr 5:143,898,542...143,903,816 		JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 PMID:32219868 NCBI chr18:63,224,163...63,269,000
Ensembl chr18:63,224,163...63,269,000 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:17454231 RGD:7771593 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Atf6 activating transcription factor 6 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:25741868 PMID:26029869 PMID:28028229 PMID:28492532 NCBI chr13:85,460,312...85,639,959
Ensembl chr13:85,462,840...85,640,033 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 2:191,709,311...191,737,414
Ensembl chr 2:191,709,311...191,737,425 		JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr13:79,319,708...79,340,226
Ensembl chr13:79,319,706...79,340,549 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO DNA:mutation, deletion:exon:p.Q33X (human) RGD PMID:24011989 RGD:7483567 NCBI chr  X:156,548,911...156,581,002
Ensembl chr  X:156,548,911...156,579,371 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA,protein:increased expression:inferior colliculus: RGD PMID:20598895 RGD:8655560 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Brf1 BRF1 general transcription factor IIIB subunit ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 6:137,854,055...137,902,629
Ensembl chr 6:137,855,449...137,902,386 		JBrowse link
G Bsnd barttin CLCNK type accessory subunit beta ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon RGD PMID:11687798 RGD:1600603 NCBI chr 5:126,480,590...126,489,389
Ensembl chr 5:126,480,592...126,489,389 		JBrowse link
G Carmil1 capping protein regulator and myosin 1 linker 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr17:41,235,819...41,516,204
Ensembl chr17:41,236,229...41,516,221 		JBrowse link
G Cat catalase IEP RGD PMID:15109710 RGD:8547516 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:110,297,342...110,329,526 		JBrowse link
G Cdc14a cell division cycle 14A ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 2:206,910,475...207,070,537
Ensembl chr 2:206,910,475...207,091,722 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:22899989 PMID:25741868 PMID:25963016 PMID:28492532 PMID:30303587 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 NCBI chr 1:222,674,193...222,702,124
Ensembl chr 1:222,674,194...222,702,120 		JBrowse link
G Clcn3 chloride voltage-gated channel 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr16:34,138,004...34,210,984
Ensembl chr16:34,137,952...34,210,984 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO Bartter syndrome type 4, OMIM:602522, C80W
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:25741868 PMID:15044642 RGD:1300378 NCBI chr 5:158,974,190...158,989,275
Ensembl chr 5:158,974,193...158,989,128 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chr 2:204,509,136...204,702,264
Ensembl chr 2:204,509,136...204,702,264 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		CTD
ClinVar		 PMID:16637051 PMID:25741868 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16189708 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		CTD
ClinVar		 PMID:16909383 PMID:25741868 NCBI chr 9:34,081,364...34,164,552
Ensembl chr 9:34,003,905...34,164,543 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:188,089,337...188,112,034
Ensembl chr 3:188,089,403...188,112,270 		JBrowse link
G Cox18 cytochrome c oxidase assembly factor COX18 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr14:18,147,558...18,161,622
Ensembl chr14:18,149,992...18,161,619 		JBrowse link
G Diaph1 diaphanous-related formin 1 susceptibility ISO autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation RGD PMID:9360932 RGD:1601058 NCBI chr18:29,920,889...30,020,280
Ensembl chr18:29,920,889...30,020,280 		JBrowse link
G Dpt dermatopontin ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr13:79,656,341...79,684,759
Ensembl chr13:79,655,985...79,684,758 		JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 3:183,980,458...184,004,958
Ensembl chr 3:183,980,668...184,005,329 		JBrowse link
G Ednrb endothelin receptor type B IAGP DNA:mutation:cds: RGD PMID:21915282 RGD:6480217 NCBI chr15:87,055,490...87,086,765
Ensembl chr15:87,057,691...87,086,765 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 RGD:6480217
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:25762674 RGD:11567237 NCBI chr16:7,771,311...7,841,895
Ensembl chr16:7,771,581...7,841,895 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO associated with Cockayne Syndrome RGD PMID:25762674 RGD:11567237 NCBI chr 2:41,380,901...41,418,294
Ensembl chr 2:41,380,901...41,418,294 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:167,909,271...167,942,984 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO DNA:deletion:introns, exon (human) RGD PMID:15735644 RGD:1598455 NCBI chr 1:23,991,431...24,235,132
Ensembl chr 1:23,991,431...24,235,131 		JBrowse link
G F2 coagulation factor II, thrombin no_association ISO DNA:transition: :20210G>A (human)
associated with Stroke
DNA:transition: :20210G>A(human) 		RGD PMID:17334320 PMID:18636032 PMID:16572609 RGD:7387261, RGD:7387268, RGD:7387240 NCBI chr 3:98,051,958...98,065,246
Ensembl chr 3:98,051,960...98,065,246 		JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation
DNA:transition: :1691G>A (human)
DNA:SNP: :1691G>A (human) 		RGD PMID:16015153 PMID:17334320 PMID:16572609 RGD:7387260, RGD:7387261, RGD:7387240 NCBI chr13:79,046,657...79,116,247
Ensembl chr13:79,046,448...79,116,247 		JBrowse link
G Fadd Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:209,169,245...209,175,423
Ensembl chr 1:209,169,318...209,174,976 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:209,430,457...209,434,832
Ensembl chr 1:209,430,457...209,434,832 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:30311386 PMID:34652575 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:20,556,270...20,612,967
Ensembl chr 9:20,556,270...20,612,967 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chr10:27,096,731...27,152,563
Ensembl chr10:27,096,740...27,152,442 		JBrowse link
G Gabrr2 gamma-aminobutyric acid type A receptor subunit rho 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 5:52,242,564...52,286,255
Ensembl chr 5:52,243,256...52,296,746 		JBrowse link
G Gas2 growth arrest-specific 2 ISS MouseDO NCBI chr 1:110,587,952...110,721,572
Ensembl chr 1:110,717,312...110,718,541 		JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 RGD PMID:10935639 RGD:1358706 NCBI chr17:73,544,234...73,575,670
Ensembl chr17:73,553,548...73,575,670 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr20:26,788,472...26,836,728
Ensembl chr20:26,790,516...26,836,726 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:32403198 NCBI chr17:55,958,750...55,982,762
Ensembl chr17:55,958,755...55,971,709 		JBrowse link
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:23510777 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32747562 More... NCBI chr 7:9,026,905...9,034,005
Ensembl chr 7:9,026,905...9,034,795 		JBrowse link
G Gjb2 gap junction protein, beta 2 IEP
ISO 		protein:increased expression:cochlea:
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:3 PMID:2706105 PMID:8789457 PMID:9139825 PMID:9285800 More... RGD:7349365 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy 		CTD
ClinVar		 PMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 PMID:19197336 More... NCBI chr 5:144,933,692...144,939,435
Ensembl chr 5:144,933,696...144,940,280 		JBrowse link
G Gjc3 gap junction protein, gamma 3 ISO RGD PMID:16481432 RGD:1578421 NCBI chr12:22,009,560...22,024,567
Ensembl chr12:22,009,409...22,078,418 		JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human)
DNA:nonsense mutation:cds:p.R127X(human) 		RGD PMID:21348867 PMID:20602914 RGD:11552574, RGD:11552577 NCBI chr 2:199,015,250...199,063,788
Ensembl chr 2:199,015,250...199,063,056 		JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 7:70,280,360...70,415,277
Ensembl chr 7:70,285,310...70,415,274 		JBrowse link
G Gsdme gasdermin E ISO DNA:deletion:intron
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:25741868 PMID:9771715 RGD:1599770 NCBI chr 4:80,590,344...80,651,943
Ensembl chr 4:80,588,614...80,641,525 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr18:28,672,810...28,682,367
Ensembl chr18:28,672,824...28,682,359 		JBrowse link
G Ifng interferon gamma ISO associated with Hearing Loss, Sensorineural;protein:increased expression:serum: RGD PMID:15937357 PMID:19684145 RGD:7987908, RGD:8142347 NCBI chr 7:55,789,180...55,793,216
Ensembl chr 7:55,761,736...55,793,216 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:9693304 RGD:8662926 NCBI chr 2:121,932,968...121,937,672
Ensembl chr 2:121,932,968...121,937,672 		JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:21255762 PMID:25741868 PMID:28492532 NCBI chr11:77,591,146...77,624,268
Ensembl chr11:77,569,621...77,624,140 		JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:30,812,033...30,816,885
Ensembl chr19:30,797,202...30,815,029 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:snp:cds:c.807C>T (rs1126643) (human) RGD PMID:22948415 RGD:8686432 NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:48,253,412...48,354,509 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:28496994 More... NCBI chr19:56,867,096...56,886,151
Ensembl chr19:56,867,096...56,886,073 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:10973849 PMID:16922724 PMID:17341399 PMID:19716085 PMID:21070882 More... NCBI chr11:45,066,875...45,080,024
Ensembl chr11:45,064,162...45,081,247 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr13:87,334,510...87,367,747
Ensembl chr13:87,334,216...87,368,678 		JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO autosomal dominant non-syndromic sensorineural deafness 2, OMIM:600101
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment 		ClinVar
RGD		 PMID:19461658 PMID:27081546 PMID:30311386 PMID:34652575 PMID:10369879 RGD:1600303 NCBI chr 5:139,560,366...139,612,212
Ensembl chr 5:139,560,366...139,612,102 		JBrowse link
G Kl Klotho ISO RGD PMID:21167925 RGD:10403058 NCBI chr12:5,326,003...5,367,016
Ensembl chr12:5,325,959...5,367,015 		JBrowse link
G Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr18:34,452,567...34,507,030
Ensembl chr18:34,452,561...34,506,938 		JBrowse link
G Lmx1a LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:29971487 NCBI chr13:82,367,493...82,511,157
Ensembl chr13:82,367,933...82,511,154 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:74,597,148...74,754,535
Ensembl chr 3:74,597,148...74,754,535 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds: RGD PMID:23246423 RGD:8693695 NCBI chr 1:237,429,873...237,465,567
Ensembl chr 1:237,429,973...237,437,546 		JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:8659547 PMID:20127975 PMID:20478267 PMID:22320238 PMID:24194866 More... NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:131,965,714...132,177,790 		JBrowse link
G Mrps7 mitochondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr10:101,342,642...101,345,790
Ensembl chr10:101,342,421...101,346,082 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28027978 NCBI chr MT:14,136...15,278
Ensembl chr MT:14,124...15,266 		JBrowse link
G Myh14 myosin heavy chain 14 ISO DFNA4, OMIM:600652, DNA:point mutation:exon:S7X
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:25741868 PMID:15015131 RGD:1600531 NCBI chr 1:104,232,778...104,295,369
Ensembl chr 1:104,232,778...104,323,404 		JBrowse link
G Myh9 myosin, heavy chain 9 disease_progression ISO associated with MYH9-Related Disorders;DNA:mutations:cds: RGD PMID:26226608 RGD:11533922 NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
G Myo15a myosin XVA ISO DFNB3, OMIM:600316, DNA:point mutation:exon:I892F
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:9536098 PMID:17546645 PMID:17576681 PMID:24033266 PMID:24875298 More... RGD:1600554 NCBI chr10:45,776,907...45,835,473
Ensembl chr10:45,776,907...45,835,473 		JBrowse link
G Myo1a myosin IA ISO DFNA48, OMIM:607841 RGD PMID:12736868 RGD:1600218 NCBI chr 7:65,424,206...65,443,227
Ensembl chr 7:65,428,258...65,443,213 		JBrowse link
G Myo1f myosin IF ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 7:15,065,530...15,116,087
Ensembl chr 7:15,065,530...15,116,087 		JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:12032315 PMID:23990876 PMID:25741868 PMID:28492532 PMID:32006683 More... NCBI chr17:89,451,567...89,667,654
Ensembl chr17:89,451,567...89,667,654 		JBrowse link
G Myo6 myosin VI ISO DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y RGD PMID:11468689 RGD:1600556 NCBI chr 8:89,967,351...90,122,219
Ensembl chr 8:89,967,377...90,122,215 		JBrowse link
G Myo7a myosin VIIA ISO DNA:missense mutation:exon:c.5660C>T (p.P1887L) (human)
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:8694138 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 1:160,711,680...160,823,311
Ensembl chr 1:160,711,696...160,827,606 		JBrowse link
G Ncoa3 nuclear receptor coactivator 3 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:30311386 PMID:33326993 PMID:34652575 NCBI chr 3:175,157,824...175,237,831
Ensembl chr 3:175,157,821...175,240,631 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:12477167 PMID:12566280 PMID:19158810 PMID:20301384 PMID:21840889 More... NCBI chr15:46,477,330...46,481,203
Ensembl chr15:46,458,204...46,482,515 		JBrowse link
G Ngf nerve growth factor ISO protein:decreased expression:serum: RGD PMID:14587217 RGD:8655553 NCBI chr 2:192,589,580...192,642,971
Ensembl chr 2:192,589,582...192,643,834 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:12525542 PMID:16199547 PMID:16371502 PMID:18381613 PMID:19250381 More... NCBI chr 6:31,647,869...31,744,476
Ensembl chr 6:31,647,914...31,744,476 		JBrowse link
G P2rx2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:28492532 PMID:30311386 PMID:34652575 NCBI chr12:51,999,107...52,002,627
Ensembl chr12:51,999,372...52,002,627 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 9:21,755,747...21,767,939
Ensembl chr 9:21,755,751...21,767,908 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO DNA:mutations:cds: RGD PMID:15029877 RGD:11556244 NCBI chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		JBrowse link
G Phf7 PHD finger protein 7 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr16:6,439,968...6,452,671
Ensembl chr16:6,439,970...6,452,671 		JBrowse link
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:31397523 NCBI chr 8:105,196,312...105,306,252
Ensembl chr 8:105,197,455...105,292,447 		JBrowse link
G Plscr4 phospholipid scramblase 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 8:101,867,057...101,905,827
Ensembl chr 8:101,866,888...101,905,831 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr  X:17,509,551...17,520,157
Ensembl chr  X:17,509,554...17,520,122 		JBrowse link
G Prkcb protein kinase C, beta ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27329761 NCBI chr 1:186,263,397...186,594,743
Ensembl chr 1:186,263,447...186,594,740 		JBrowse link
G Ptgds prostaglandin D2 synthase IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 3:28,680,044...28,682,978
Ensembl chr 3:28,680,044...28,682,978 		JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 7:44,720,916...44,903,291
Ensembl chr 7:44,720,916...44,903,291 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:8279480 PMID:25741868 PMID:28492532 PMID:32827185 NCBI chr 7:70,962,008...70,993,726
Ensembl chr 7:70,965,590...70,993,670 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphisms:cds:HLA-Bw54 (human) RGD PMID:2909230 RGD:7365120 NCBI chr20:3,314,491...3,322,815 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*0301(human) RGD PMID:8712634 RGD:7365101 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:33713422 NCBI chr 5:128,035,714...128,110,015
Ensembl chr 5:128,008,125...128,110,043 		JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 4:23,271,815...23,460,971
Ensembl chr 4:23,271,825...23,460,971 		JBrowse link
G Slc12a2 solute carrier family 12 member 2 IEP
ISO 		protein:decreased expression:cochlea:
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:34374074 PMID:23827367 RGD:7349365 NCBI chr18:53,546,263...53,614,478
Ensembl chr18:53,546,333...53,614,470 		JBrowse link
G Slc19a2 solute carrier family 19 member 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:10391221 PMID:10391223 PMID:10874303 PMID:17659067 PMID:25741868 More... NCBI chr13:79,135,118...79,149,316
Ensembl chr13:79,135,059...79,149,315 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chr16:52,805,521...52,809,316
Ensembl chr16:52,805,523...52,811,700 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		CTD
ClinVar		 PMID:12676893 PMID:12974744 PMID:15279074 PMID:16053392 PMID:16460646 More... NCBI chr 6:53,835,102...53,873,968
Ensembl chr 6:53,835,110...53,873,216 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO mRNA:decreased expression:organ of Corti (mouse) RGD PMID:19363478 RGD:9585667 NCBI chr 4:14,102,492...14,141,520
Ensembl chr 4:14,102,492...14,141,847 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 7:110,126,632...110,146,647
Ensembl chr 7:110,143,220...110,158,809 		JBrowse link
G Slc7a14 solute carrier family 7, member 14 ISS MouseDO NCBI chr 2:113,993,781...114,099,810
Ensembl chr 2:113,993,785...114,099,804 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISS OMIM:304400 MouseDO NCBI chr15:32,153,016...32,212,715
Ensembl chr15:32,153,018...32,212,715 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISS OMIM:304400 MouseDO NCBI chr15:93,977,812...93,984,431
Ensembl chr15:93,969,038...93,984,526 		JBrowse link
G Sod2 superoxide dismutase 2 IEP protein:increased activity:cochlea: RGD PMID:15109710 RGD:8547516 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr10:57,565,909...57,604,546
Ensembl chr10:57,565,909...57,604,498 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:24472721 RGD:11554193 NCBI chr 3:166,511,616...166,559,463
Ensembl chr 3:166,511,985...166,559,462 		JBrowse link
G Strc stereocilin ISO RGD PMID:11687802 RGD:1599186 NCBI chr 3:128,785,817...128,811,773
Ensembl chr 3:128,789,290...128,808,023 		JBrowse link
G Stx4 syntaxin 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:30311386 PMID:36355422 NCBI chr 1:191,880,549...191,890,333
Ensembl chr 1:191,881,559...191,896,774 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO DNA:frameshift mutation:CDS:p.G387AfsX73 (human) RGD PMID:32110744 RGD:155641234 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392 		JBrowse link
G Tcf19 transcription factor 19 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr20:3,223,464...3,227,569
Ensembl chr20:3,223,324...3,230,060 		JBrowse link
G Tecta tectorin alpha ISO autosomal dominant nonsyndromic sensorineural deafness DFNA12, OMIM:601842 and DFNA8, OMIM:601543
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss | ClinVar Annotator: match by term: Sensorineural hearing loss disorder
autosomal recessive sensorineural nonsyndromic deafness DFNB21, OMIM:603629 		ClinVar
RGD		 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... RGD:1599380, RGD:1599381 NCBI chr 8:51,604,974...51,676,745
Ensembl chr 8:51,604,975...51,676,722 		JBrowse link
G Tenm1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr  X:126,265,968...127,155,737
Ensembl chr  X:126,269,508...127,154,971 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr20:17,355,373...17,367,422
Ensembl chr20:17,355,363...17,369,877 		JBrowse link
G Tmc1 transmembrane channel-like 1 ISO DFNA36, OMIM:606705, DFNB7, OMIM:600974
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:25741868 PMID:30311386 PMID:40377830 PMID:11850618 RGD:1599440 NCBI chr 1:227,701,781...227,872,534
Ensembl chr 1:227,701,781...227,872,534 		JBrowse link
G Tmie transmembrane inner ear ISO DFNB6, OMIM:600971
ClinVar Annotator: match by term: Sensorineural hearing loss disorder 		ClinVar
RGD		 PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... RGD:1599441 NCBI chr 8:119,728,123...119,743,219
Ensembl chr 8:119,728,313...119,743,219 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO DFNB10, OMIM:605316, DFNB8 OMIM:601072 RGD PMID:11137999 RGD:1599443 NCBI chr20:9,253,497...9,275,167
Ensembl chr20:9,255,467...9,275,720 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr 5:82,391,340...82,476,197
Ensembl chr 5:82,391,340...82,476,131 		JBrowse link
G Tnf tumor necrosis factor ISO associated with Hearing Loss, Sensorineural;protein:increased expression:serum: RGD PMID:16988499 PMID:19684145 PMID:23165380 RGD:7387303, RGD:8142347, RGD:7394704 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 7:109,223,269...109,248,855
Ensembl chr 7:109,139,527...109,246,799 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr10:45,915,625...45,956,856
Ensembl chr10:45,915,625...45,956,856 		JBrowse link
G Ush1c USH1 protein network component harmonin susceptibility ISO DNA:splice-site mutation, frameshift mutation RGD PMID:10973247 PMID:20211154 RGD:1600453, RGD:8695932 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Usp31 ubiquitin specific peptidase 31 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 1:185,642,631...185,709,499
Ensembl chr 1:185,581,444...185,709,464 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Sensorineural hearing loss
DNA:missense mutation:cds:p.R456H (rs1801206) (human)
associated with Diabetes Mellitus, Type 2 		ClinVar
RGD		 PMID:12107816 PMID:22238590 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:8694398, RGD:8694404, RGD:8694401 NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
G Whrn whirlin ISO RGD PMID:12833159 RGD:1580603 NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:38386308 NCBI chr10:13,140,929...13,150,897
Ensembl chr10:13,140,929...13,150,897 		JBrowse link
short stature, hearing loss, retinitis pigmentosa, and distinctive facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: EXOSC2-related condition | ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies OMIM
ClinVar		 PMID:14647208 PMID:15060126 PMID:16199547 PMID:24447024 PMID:25741868 More... NCBI chr 3:35,360,652...35,370,948
Ensembl chr 3:35,360,666...35,371,373 		JBrowse link
Siddiqi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: FITM2-related condition | ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr 3:172,560,781...172,567,291
Ensembl chr 3:172,560,781...172,567,291 		JBrowse link
Sinoatrial Node Dysfunction and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21131953 PMID:24033266 PMID:25741868 More... NCBI chr16:5,233,682...5,527,549
Ensembl chr16:5,233,690...5,674,692 		JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr10:50,996,796...51,363,977
Ensembl chr10:50,996,796...51,363,963 		JBrowse link
split hand-foot malformation 1 with sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx5 distal-less homeobox 5 ISO ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:22121204 PMID:25741868 PMID:28492532 NCBI chr 4:35,965,579...35,969,973
Ensembl chr 4:35,965,579...35,969,845 		JBrowse link
spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 ISO ClinVar Annotator: match by term: SHILCA SYNDROME OMIM
ClinVar		 PMID:20301475 PMID:22842227 PMID:22842229 PMID:22842230 PMID:22842231 More... NCBI chr 5:165,193,301...165,211,213
Ensembl chr 5:165,193,302...165,211,231 		JBrowse link
Sudden Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx3 glutathione peroxidase 3 ISO DNA:SNP: :rs3805435 (human) RGD PMID:28738977 RGD:401827121 NCBI chr10:39,529,335...39,537,406
Ensembl chr10:39,529,448...39,537,405 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:SNP, haplotype: :rs1043618 (human) RGD PMID:22922572 RGD:8662465 NCBI chr20:3,875,411...3,877,866
Ensembl chr20:3,855,780...3,877,979 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO DNA:SNP, haplotype: :rs2763979 (human) RGD PMID:22922572 RGD:8662465 NCBI chr20:3,859,756...3,863,800
Ensembl chr20:3,855,780...3,877,979 		JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:SNP, haplotype: :rs2075800 (human) RGD PMID:22922572 RGD:8662465 NCBI chr20:3,853,496...3,860,223
Ensembl chr20:3,853,331...3,876,877 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO RGD PMID:21108784 RGD:8548824 NCBI chr 7:24,169,608...24,249,446
Ensembl chr 7:24,130,137...24,246,764 		JBrowse link
G Il4r interleukin 4 receptor ISO DNA:SNP: :p.Q576R (rs 180275) (human) RGD PMID:16280132 RGD:7829784 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636 		JBrowse link
G Il6 interleukin 6 susceptibility ISO protein:increased expression:serum:
DNA:polymorphism:cds:p.C572G(human) 		RGD PMID:11189185 PMID:22385075 RGD:7394753, RGD:8547982 NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,889,999...5,894,610 		JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO DNA:SNP: :807C>T (human) RGD PMID:16525573 RGD:1582302 NCBI chr 2:48,253,412...48,354,509
Ensembl chr 2:48,253,412...48,354,509 		JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism:intron:252A>G (human) RGD PMID:19833626 RGD:8548795 NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) RGD PMID:21154774 RGD:8549733 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association 		ISO DNA:SNP: :677C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:cds:677C>T,1298A>C(human)
DNA:SNP:cds:677C>T(human) 		CTD
RGD		 PMID:16275406 PMID:20798492 PMID:15775757 PMID:16572609 RGD:7387236, RGD:7387243, RGD:7387240 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:16778415 RGD:8694081 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO DNA:snp:cds:p.E298D (rs1799983) (human) RGD PMID:23560644 RGD:7771541 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G RT1-Ba RT1 class II, locus Ba treatment ISO DNA:polymorphism: : HLA-DQA1*01 RGD PMID:11493203 RGD:8547564 NCBI chr20:4,577,057...4,581,650
Ensembl chr20:4,576,843...4,581,653 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*14,HLA-DRB1*04(human)
DNA:polymorphism: :HLA-DRB1*0403(human) 		RGD PMID:11099146 PMID:16303674 RGD:7365092, RGD:7365115 NCBI chr20:4,550,594...4,560,182
Ensembl chr20:4,550,596...4,560,165 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:deletion, haplotype:promoter:g.-676_-674delG (human) RGD PMID:22672326 RGD:8547731 NCBI chr12:25,237,977...25,248,356
Ensembl chr12:25,237,952...25,248,357 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:11189185 RGD:7394753 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr 1:129,100,088...129,161,167
Ensembl chr 1:129,100,041...129,161,081 		JBrowse link
thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a2 solute carrier family 19 member 2 ISO
ISS 		ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: SLC19A2-related condition | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia
OMIM:249270
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More... NCBI chr13:79,135,118...79,149,316
Ensembl chr13:79,135,059...79,149,315 		JBrowse link
Tietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tietz syndrome
OMIM:103500 		CTD
OMIM
ClinVar
MouseDO		 PMID:2440678 PMID:7874167 PMID:7874168 PMID:8589691 PMID:8659547 More... NCBI chr 4:131,965,676...132,177,790
Ensembl chr 4:131,965,714...132,177,790 		JBrowse link
Tinnitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment IMP RGD PMID:17221143 RGD:9588534 NCBI chr10:7,503,351...7,599,474
Ensembl chr10:7,492,022...7,599,474 		JBrowse link
G Arc activity-regulated cytoskeleton-associated protein IEP mRNA:decreased expression:auditory cortex: RGD PMID:18524887 RGD:8655535 NCBI chr 7:108,444,959...108,448,413
Ensembl chr 7:108,444,692...108,451,220 		JBrowse link
G Bdnf brain-derived neurotrophic factor severity IEP
ISO 		mRNA:increased expression:cochlea: RGD PMID:18524887 PMID:22281446 RGD:8655535, RGD:8655556 NCBI chr 3:116,619,633...116,670,212
Ensembl chr 3:116,619,633...116,670,657 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A IEP mRNA, protein:increased expression:Cochlear Nucleus RGD PMID:24092407 RGD:401940125 NCBI chr10:6,136,458...6,560,003
Ensembl chr10:6,138,037...6,551,378 		JBrowse link
G Il4r interleukin 4 receptor ISO associated with Hearing Loss, Sudden;DNA:SNP: :p.Q576R (rs 180275) (human) RGD PMID:16280132 RGD:7829784 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:189,544,988...189,570,636 		JBrowse link
G Tnf tumor necrosis factor IEP mRNA, protein:increased expression:Cochlear Nucleus RGD PMID:24092407 RGD:401940125 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
Townes-Brocks syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dact1 dishevelled-binding antagonist of beta-catenin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Townes syndrome 		CTD
ClinVar		 PMID:25741868 NCBI chr 6:95,526,645...95,538,625
Ensembl chr 6:95,526,690...95,551,053 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO
ISS 		ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome
OMIM:107480
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More... NCBI chr19:34,179,316...34,196,278
Ensembl chr19:34,181,078...34,196,278 		JBrowse link
Townes-Brocks Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dact1 dishevelled-binding antagonist of beta-catenin 1 ISO ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: Townes-Brocks syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768 NCBI chr 6:95,526,645...95,538,625
Ensembl chr 6:95,526,690...95,551,053 		JBrowse link
Townes-Brocks-Branchiootorenal-Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome ClinVar PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More... NCBI chr19:34,179,316...34,196,278
Ensembl chr19:34,181,078...34,196,278 		JBrowse link
Unilateral Deafness with Delayed Endolymphatic Hydrops term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phex phosphate regulating endopeptidase X-linked ISO DNA:mutation:cds: RGD PMID:18289812 RGD:11556245 NCBI chr  X:41,422,561...41,671,226
Ensembl chr  X:41,426,101...41,671,226 		JBrowse link
Unilateral Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a5 collagen type IV alpha 5 chain ISO ClinVar Annotator: match by term: Unilateral deafness ClinVar PMID:25741868 NCBI chr  X:109,907,251...110,111,214
Ensembl chr  X:109,907,346...110,111,214 		JBrowse link
G Nefh neurofilament heavy chain disease_progression IEP RGD PMID:27457532 RGD:27372873 NCBI chr14:84,044,428...84,054,413
Ensembl chr14:84,044,023...84,054,417 		JBrowse link
Usher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:3258136 PMID:9536098 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr10:94,912,094...95,063,021
Ensembl chr10:94,913,152...95,042,447 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 4:117,781,444...117,800,103
Ensembl chr 4:117,781,444...117,800,103 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,876,519...28,880,120
Ensembl chr20:28,876,451...28,880,493 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:210,857,223...210,872,431
Ensembl chr 1:210,858,133...210,862,632 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:104,985,283...105,025,813
Ensembl chr10:104,985,283...105,026,197 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		ClinVar
RGD		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... RGD:8547536 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 PMID:28492532 PMID:29718797 PMID:31456290 NCBI chr 3:164,931,033...164,976,210
Ensembl chr 3:164,931,066...164,976,210 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 More... NCBI chr 8:63,826,410...63,843,301
Ensembl chr 8:63,826,411...63,843,277 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		ClinVar
RGD		 PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 More... RGD:8547535 NCBI chr 2:145,233,941...145,280,855
Ensembl chr 2:145,233,941...145,280,855 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:91,203,670...91,323,577 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr13:53,352,932...53,540,019
Ensembl chr13:53,352,932...53,540,019 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:85,667,971...85,681,852
Ensembl chr 1:85,667,971...85,681,852 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr14:1,203,380...1,217,536
Ensembl chr14:1,203,565...1,218,024 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr  X:17,222,538...17,244,373
Ensembl chr  X:17,222,856...17,244,370 		JBrowse link
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:244,494,916...244,589,250
Ensembl chr 1:244,494,875...244,589,250 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:2696932 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 More... RGD:8547536 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:185,074,271...185,142,149
Ensembl chr 1:185,074,268...185,141,658 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:87,015,960...87,112,531
Ensembl chr 9:87,016,999...87,124,141 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... RGD:8547536 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chr18:56,947,249...57,019,015
Ensembl chr18:56,947,249...57,019,015 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr14:71,202,303...71,307,008
Ensembl chr14:71,202,336...71,307,002 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr 9:21,563,770...21,579,074
Ensembl chr 9:21,563,777...21,579,074 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,757,181...28,783,421 		JBrowse link
G Serpinb6a serpin family B member 6A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr17:31,076,811...31,195,035
Ensembl chr17:31,158,622...31,196,545 		JBrowse link
G Ush1c USH1 protein network component harmonin treatment ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
DNA:mutations:cds: 		ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8547536, RGD:8695937, RGD:8695939, RGD:8694458, RGD:8694457 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome 		ClinVar
RGD		 PMID:12588794 PMID:22219650 PMID:24033266 PMID:25741868 PMID:27460420 More... RGD:8547536 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
DNA:snps, insertion:exon, intron:multiple (human) 		ClinVar
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:3258136 PMID:3526624 More... RGD:8547535, RGD:8547956 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11973626 PMID:12833159 PMID:15841483 PMID:21569298 PMID:22147658 More... NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr 1:211,605,163...211,612,267
Ensembl chr 1:211,605,185...211,612,277 		JBrowse link
Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr 8:63,826,410...63,843,301
Ensembl chr 8:63,826,411...63,843,277 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:167,909,271...167,942,984 		JBrowse link
G Myo7a myosin VIIA ISO
ISS 		DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
OMIM:276900 		ClinVar
MouseDO
RGD		 PMID:3130723 PMID:3442652 PMID:3494809 PMID:7568224 PMID:7870171 More... RGD:8694152 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Ush1c USH1 protein network component harmonin onset ISO DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
ClinVar Annotator: match by term: Usher syndrome type 1
DNA:mutation:cds: c.216G>A(human)
DNA:deletion:exon:c.1220delG(human) 		ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695918, RGD:8695921, RGD:8695919 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:25741868 PMID:26667666 PMID:28492532 PMID:28559085 More... NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
Usher syndrome type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA treatment ISO
IAGP 		ClinVar Annotator: match by term: Usher syndrome type 1B
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation
DNA:mutations: :multiple 		OMIM
ClinVar
CTD
RGD		 PMID:3130723 PMID:3442652 PMID:7568224 PMID:7870171 PMID:7951250 More... RGD:1581470, RGD:8694151, RGD:8694151, RGD:8694137, RGD:8694135 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
Usher syndrome type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO
ISS 		ClinVar Annotator: match by term: Usher syndrome type 1C
CTD Direct Evidence: marker/mechanism
OMIM:276904
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human) 		OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:1600453 NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO
ISS 		ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
OMIM:601067
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2289998 PMID:2706105 PMID:3442652 PMID:9536098 PMID:11090341 More... RGD:8662279 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 PMID:15028842 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,756,951...28,783,422
Ensembl chr20:28,757,181...28,783,421 		JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO
ISS 		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F
OMIM:602083
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
G Ush1g USH1 protein network component sans ISO
ISS 		CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USH1G-related disorder | ClinVar Annotator: match by term: Usher syndrome type 1G
OMIM:606943 		OMIM
CTD
ClinVar
MouseDO		 PMID:3442652 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 More... NCBI chr10:101,055,923...101,062,753
Ensembl chr10:101,057,208...101,062,564 		JBrowse link
Usher syndrome type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:2911222 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 More... NCBI chr 8:63,826,410...63,843,301
Ensembl chr 8:63,826,411...63,843,277 		JBrowse link
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO ClinVar Annotator: match by term: ESPN-related condition | ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:167,909,271...167,943,168
Ensembl chr 5:167,909,271...167,942,984 		JBrowse link
Usher syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 More... NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 PMID:32531858 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 1:161,755,110...161,825,397
Ensembl chr 1:161,755,110...161,825,365 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 More... NCBI chr 1:105,831,719...105,880,082
Ensembl chr 1:105,831,723...105,880,082 		JBrowse link
G Ush2a usherin susceptibility ISO DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:mutations: :multiple
DNA:snp:intron:c.7595-2144A>G (human)
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human) 		ClinVar
RGD		 PMID:2564938 PMID:9624053 PMID:10090909 PMID:10729113 PMID:10738000 More... RGD:8547952, RGD:8694137, RGD:8547985, RGD:8547965, RGD:8547962 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
Usher syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
G Ush2a usherin susceptibility ISO
ISS 		ClinVar Annotator: match by term: USH2A-related disorder | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
OMIM:276901
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human) 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:327072 PMID:1968399 PMID:2525289 PMID:2564938 PMID:2746042 More... RGD:8547987, RGD:8547961 NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
Usher Syndrome Type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More... NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26849169 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr18:24,747,812...24,783,704
Ensembl chr18:24,747,832...24,783,110 		JBrowse link
Usher syndrome type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO
ISS 		ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
OMIM:605472
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:3258136 PMID:3442652 PMID:9536098 PMID:10234513 PMID:14740321 More... NCBI chr 2:13,067,149...13,647,407
Ensembl chr 2:13,067,150...13,647,372 		JBrowse link
G Cnksr1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:25741868 NCBI chr 5:151,731,222...151,742,049
Ensembl chr 5:151,731,224...151,742,203 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:21900877 PMID:25741868 PMID:28492532 NCBI chr14:13,095,370...13,506,895
Ensembl chr14:13,095,370...13,504,664 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:20440071 PMID:24033266 PMID:24498627 PMID:25741868 PMID:26416264 More... NCBI chr 1:253,837,454...253,856,919
Ensembl chr 1:253,837,459...253,855,999 		JBrowse link
G Slc4a7 solute carrier family 4 member 7 ISS OMIM:605472 MouseDO NCBI chr15:13,015,854...13,095,485
Ensembl chr15:13,015,854...13,095,292 		JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIC ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chr18:24,747,812...24,783,704
Ensembl chr18:24,747,832...24,783,110 		JBrowse link
Usher syndrome type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO
ISS 		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D
OMIM:611383 		OMIM
ClinVar
MouseDO		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:16199547 More... NCBI chr 5:81,843,820...81,933,400
Ensembl chr 5:81,843,820...81,927,381 		JBrowse link
Usher syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISS
ISO 		ClinVar Annotator: match by term: Usher syndrome type 3 MouseDO
ClinVar		 PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr 2:145,233,941...145,280,855
Ensembl chr 2:145,233,941...145,280,855 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712 		JBrowse link
Usher syndrome type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO
ISS 		ClinVar Annotator: match by term: CLRN1-related condition | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A
OMIM:276902 		ClinVar
MouseDO
OMIM
RGD		 PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:15521980 More... RGD:634439 NCBI chr 2:145,233,941...145,280,855
Ensembl chr 2:145,233,941...145,280,855 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 3A ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr13:102,368,783...103,035,230
Ensembl chr13:102,368,783...103,035,217 		JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 More... NCBI chr18:28,655,669...28,672,712
Ensembl chr18:28,655,671...28,672,712 		JBrowse link
Usher Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 More... NCBI chr10:94,912,094...95,063,021
Ensembl chr10:94,913,152...95,042,447 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:28,783,124...29,165,624
Ensembl chr20:28,783,564...29,165,332 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr20:13,996,383...15,495,206
Ensembl chr20:13,999,116...15,493,958 		JBrowse link
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition OMIM
ClinVar		 PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532 NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:13,380,551...13,451,437 		JBrowse link
Vohwinkel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.D66H(human) 		OMIM
ClinVar
CTD
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:11568635, RGD:7364824 NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: WITTWER SYNDROME ClinVar PMID:25741868 PMID:28422131 PMID:28492532 NCBI chr14:1,329,073...1,360,781
Ensembl chr14:1,329,032...1,360,769 		JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:81,679,956...81,707,331
Ensembl chr14:81,679,765...81,707,554 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:1,154,275...1,166,334
Ensembl chr14:1,154,275...1,166,752 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr14:81,167,268...81,206,776
Ensembl chr14:81,162,309...81,209,459 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: WITTWER SYNDROME | ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr14:81,057,727...81,135,866
Ensembl chr14:81,057,727...81,123,027 		JBrowse link
G Nuf2 NUF2 component of NDC80 kinetochore complex ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr13:84,226,448...84,290,957
Ensembl chr13:84,226,509...84,255,598 		JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,729...3,685 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:1161832 PMID:10521293 PMID:11161832 PMID:11244483 PMID:12754709 More... RGD:1599813 NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO
ISS 		ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1
OMIM:222300 		OMIM
ClinVar
MouseDO		 PMID:1161832 PMID:1615141 PMID:3095763 PMID:3126496 PMID:3387915 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:78,034,864...78,060,459 		JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: Wolfram syndrome 2
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human) 		OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:17576681 PMID:24705017 PMID:25371195 PMID:25741868 More... RGD:10045603, RGD:10045601 NCBI chr 2:226,502,517...226,527,325
Ensembl chr 2:226,502,517...226,540,080 		JBrowse link
X-linked Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17216251 PMID:17396119 PMID:19129241 PMID:19675380 More... NCBI chr 9:91,281,324...91,323,577
Ensembl chr 9:91,203,670...91,323,577 		JBrowse link
G Col4a5 collagen type IV alpha 5 chain ISO
ISS 		ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome
OMIM:301050 		OMIM
ClinVar
MouseDO		 PMID:94548 PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 More... NCBI chr  X:109,907,251...110,111,214
Ensembl chr  X:109,907,346...110,111,214 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:80,645,507...80,714,200
Ensembl chr 9:80,645,507...80,714,137 		JBrowse link
G Msr1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr16:59,421,250...59,507,070
Ensembl chr16:59,421,057...59,507,070 		JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 NCBI chr 8:61,340,446...61,404,932
Ensembl chr 8:61,345,271...61,400,610 		JBrowse link
X-linked deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.G306E (c.917G>A) (human) 		OMIM
ClinVar
CTD
RGD		 PMID:8968763 PMID:10503584 PMID:15240907 PMID:17701900 PMID:20021999 More... RGD:11061884 NCBI chr  X:108,920,663...108,942,713
Ensembl chr  X:108,920,651...108,942,711 		JBrowse link
X-linked deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear 		CTD
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr15:35,375,977...35,393,817
Ensembl chr15:35,375,692...35,393,877 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear 		CTD
ClinVar		 PMID:10730756 PMID:11017065 PMID:12419304 PMID:14708603 PMID:15213106 More... NCBI chr15:35,400,147...35,410,649
Ensembl chr15:35,398,770...35,410,849 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: POU3F4-related condition | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 More... NCBI chr  X:79,974,808...79,976,085
Ensembl chr  X:79,974,627...79,987,326 		JBrowse link
X-linked deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpx small muscle protein, X-linked ISO
ISS 		ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE
OMIM:300066
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More... NCBI chr  X:41,049,354...41,107,323
Ensembl chr  X:41,049,356...41,107,137 		JBrowse link
X-linked deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism OMIM
CTD		 NCBI chr  X:132,528,107...132,567,237
Ensembl chr  X:132,528,107...132,567,237 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:132,572,133...132,584,255
Ensembl chr  X:132,572,148...132,584,254 		JBrowse link
X-linked deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a6 collagen type IV alpha 6 chain ISO ClinVar Annotator: match by term: COL4A6-related condition | ClinVar Annotator: match by term: Deafness, X-linked 6 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23714752 PMID:25741868 PMID:26467025 More... NCBI chr  X:109,554,945...109,905,987
Ensembl chr  X:109,552,651...109,905,944 		JBrowse link
X-linked deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gprasp2 G protein-coupled receptor associated sorting protein 2 ISO OMIM NCBI chr  X:103,609,304...103,615,450
Ensembl chr  X:103,501,226...103,641,988 		JBrowse link
X-linked intellectual disability-hypotonic facies syndrome-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked, 1
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:c. 6740A>C (p.H224P)(human)
DNA:nonsense mutation:exon:324C>T (p.R37X) (human)
DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human) 		OMIM
ClinVar
CTD
RGD		 PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 More... RGD:13442490, RGD:11040909, RGD:1599406 NCBI chr  X:74,916,548...75,062,880
Ensembl chr  X:74,916,548...75,062,880 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:28,765,746...28,770,322 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked, 1 ClinVar PMID:25741868 NCBI chr  X:24,350,708...24,480,798
Ensembl chr  X:24,353,217...24,480,798 		JBrowse link
X-linked mental retardation Gustavson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbmx RNA binding motif protein, X-linked ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OPTIC ATROPHY, DEAFNESS, AND SEIZURES
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr  X:140,342,544...140,352,121
Ensembl chr  X:140,345,571...140,352,035 		JBrowse link
X-linked nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpx small muscle protein, X-linked ISO ClinVar Annotator: match by term: X-linked deafness ClinVar NCBI chr  X:41,049,354...41,107,323
Ensembl chr  X:41,049,356...41,107,137 		JBrowse link
X-linked retinitis pigmentosa and sinorespiratory infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:1733835 PMID:8673101 PMID:10094550 PMID:14627685 PMID:16055928 More... NCBI chr  X:15,238,961...15,299,004
Ensembl chr  X:15,239,159...15,298,999 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    sensory system disease 4800
      Hearing Disorders 581
        Familial Ossicular Malformations 0
        Hearing Loss + 575
        Hyperacusis 0
        Tinnitus + 6
Path 2
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Signs and Symptoms 6804
        Neurologic Manifestations 5934
          sensory system disease 4800
            Otorhinolaryngologic Diseases 1186
              auditory system disease 746
                Hearing Disorders 581
                  Familial Ossicular Malformations 0
                  Hearing Loss + 575
                  Hyperacusis 0
                  Tinnitus + 6
paths to the root