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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:inner ear disease
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Accession:DOID:2952 term browser browse the term
Definition:An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium. (DO)
Synonyms:exact_synonym: Labyrinth Disease;   inner ear diseases;   labyrinth diseases;   labyrinthine disease
 primary_id: MESH:D007759
 xref: EFO:0009672;   ICD10CM:H83.9;   NCI:C128369;   NCI:C27166
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
inner ear disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdnf brain derived neurotrophic factor ISO RGD PMID:10536212 RGD:11556223 NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014 		JBrowse link
G Cenpb centromere protein B ISO associated with limited scleroderma RGD PMID:18520322 RGD:27226707 NCBI chrNW_004936485:14,914,644...14,917,265
Ensembl chrNW_004936485:14,914,644...14,916,458 		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 OMIM
ClinVar		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chrNW_004936629:3,570,163...3,589,324
Ensembl chrNW_004936629:3,567,999...3,589,371 		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 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 OMIM
ClinVar		 PMID:16155570 PMID:18412118 PMID:25741868 PMID:28492532 NCBI chrNW_004936478:3,721,662...3,724,471
Ensembl chrNW_004936478:3,721,662...3,724,433 		JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Navajo brainstem syndrome ClinVar PMID:25741868 NCBI chrNW_004936478:3,729,079...3,731,353
Ensembl chrNW_004936478:3,729,107...3,730,870 		JBrowse link
Auditory Neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chrNW_004936479:1,441,508...1,477,133
Ensembl chrNW_004936479:1,441,437...1,478,107 		JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:28492532 NCBI chrNW_004936550:6,885,484...7,067,001
Ensembl chrNW_004936550:6,886,706...6,945,056 		JBrowse link
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: Auditory dys-synchrony ClinVar PMID:25741868 PMID:28965846 PMID:29040572 NCBI chrNW_004936594:215,165...223,715
Ensembl chrNW_004936594:215,155...223,771 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chrNW_004936646:1,697,531...1,730,376
Ensembl chrNW_004936646:1,697,492...1,732,832 		JBrowse link
G LOC101960999 voltage-dependent P/Q-type calcium channel subunit alpha-1A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chrNW_004936659:2,201,606...2,269,625
Ensembl chrNW_004936659:2,192,610...2,392,638 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chrNW_004936474:767,754...795,258
Ensembl chrNW_004936474:767,671...796,556 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chrNW_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697 		JBrowse link
G Notch3 notch receptor 3 ISO ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 NCBI chrNW_004936596:5,265,984...5,301,430
Ensembl chrNW_004936596:5,265,999...5,300,429 		JBrowse link
G Opa1 OPA1 mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:18381613 PMID:19250381 PMID:22575033 PMID:26818607 PMID:28492532 NCBI chrNW_004936493:5,916,113...5,999,867
Ensembl chrNW_004936493:5,916,113...5,999,784 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chrNW_004936479:1,425,765...1,437,338
Ensembl chrNW_004936479:1,425,722...1,437,374 		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 chrNW_004936485:17,771,797...17,777,637 JBrowse link
G Timm8a translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30634948 NCBI chrNW_004936813:425,613...428,722
Ensembl chrNW_004936813:425,613...428,702 		JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chrNW_004936578:492,267...705,282
Ensembl chrNW_004936578:491,507...705,729 		JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30818899 NCBI chrNW_004936600:4,691,112...4,696,523
Ensembl chrNW_004936600:4,691,104...4,696,507 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chrNW_004936477:18,339,915...18,364,973
Ensembl chrNW_004936477:18,339,827...18,364,998 		JBrowse link
Auditory Neuropathy and Optic Atrophy 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: AUDITORY NEUROPATHY AND OPTIC ATROPHY | ClinVar Annotator: match by term: FDXR-related condition OMIM
ClinVar		 PMID:6766943 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28965846 More... NCBI chrNW_004936594:215,165...223,715
Ensembl chrNW_004936594:215,155...223,771 		JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 More... NCBI chrNW_004936705:1,381,025...1,833,890
Ensembl chrNW_004936705:1,380,445...1,731,280 		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 chrNW_004936472:665,967...750,396
Ensembl chrNW_004936472:669,155...730,035 		JBrowse link
autosomal dominant auditory neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar		 PMID:18230648 PMID:20435227 PMID:21391237 PMID:21636032 PMID:23161701 More... NCBI chrNW_004936602:104,424...113,692
Ensembl chrNW_004936602:104,033...113,738 		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 OMIM
ClinVar		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chrNW_004936659:520,181...565,496
Ensembl chrNW_004936659:520,493...565,416 		JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1 OMIM
ClinVar		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936905:458,062...463,359
Ensembl chrNW_004936905:458,298...463,346 		JBrowse link
Autosomal Dominant Deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4 ClinVar PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chrNW_004936889:121,724...184,374
Ensembl chrNW_004936889:122,853...183,928 		JBrowse link
autosomal dominant nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss ClinVar PMID:25741868 PMID:33111345 NCBI chrNW_004936687:1,435,977...1,437,138
Ensembl chrNW_004936687:1,436,009...1,437,067 		JBrowse link
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chrNW_004936602:2,744,757...3,011,051
Ensembl chrNW_004936602:2,744,759...3,007,940 		JBrowse link
G Diablo diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chrNW_004936558:2,260,459...2,268,941
Ensembl chrNW_004936558:2,260,359...2,268,941 		JBrowse link
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chrNW_004936550:1,110,679...1,240,463
Ensembl chrNW_004936550:1,122,260...1,238,682 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chrNW_004936788:1,125,332...1,264,372
Ensembl chrNW_004936788:1,174,544...1,262,746 		JBrowse link
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chrNW_004936478:7,900,432...8,499,300
Ensembl chrNW_004936478:7,900,432...8,393,631 		JBrowse link
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA | ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing impairment ClinVar PMID:30872814 PMID:31397523 NCBI chrNW_004936540:4,205,871...4,323,121
Ensembl chrNW_004936540:4,205,844...4,323,120 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chrNW_004936495:4,839,496...4,842,906
Ensembl chrNW_004936495:4,838,051...4,842,994 		JBrowse link
autosomal dominant nonsyndromic deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA | ClinVar Annotator: match by term: Deafness, autosomal dominant 1 | ClinVar Annotator: match by term: KONIGSMARK SYNDROME OMIM
ClinVar		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chrNW_004936504:12,548,452...12,645,236
Ensembl chrNW_004936504:12,548,452...12,643,399 		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 chrNW_004936531:8,533,926...8,542,516
Ensembl chrNW_004936531:8,532,353...8,542,551 		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 chrNW_004936531:9,512,252...9,518,044
Ensembl chrNW_004936531:9,513,417...9,518,037 		JBrowse link
autosomal dominant nonsyndromic deafness 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders OMIM
ClinVar		 PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 More... NCBI chrNW_004936560:1,325,521...1,466,216
Ensembl chrNW_004936560:1,337,842...1,462,285 		JBrowse link
autosomal dominant nonsyndromic deafness 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 11 OMIM
ClinVar		 PMID:3130723 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 More... NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101975324 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12 OMIM
ClinVar		 PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 More... NCBI chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260 		JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 13 OMIM
ClinVar		 PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:21204229 More... NCBI chrNW_004936476:25,663,563...25,692,315
Ensembl chrNW_004936476:25,663,755...25,691,344 		JBrowse link
autosomal dominant nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 15 | ClinVar Annotator: match by term: POU4F3-related condition OMIM
ClinVar		 PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More... NCBI chrNW_004936504:8,348,460...8,351,246
Ensembl chrNW_004936504:8,348,398...8,351,804 		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 chrNW_004936471:6,760,289...6,777,425
Ensembl chrNW_004936471:6,760,294...6,777,425 		JBrowse link
autosomal dominant nonsyndromic deafness 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 17 | ClinVar Annotator: match by term: Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration | ClinVar Annotator: match by term: MYH9-related condition OMIM
ClinVar		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262 		JBrowse link
autosomal dominant nonsyndromic deafness 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin gamma 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 20 OMIM
ClinVar		 PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chrNW_004936594:5,170,711...5,173,251
Ensembl chrNW_004936594:5,170,711...5,173,247 		JBrowse link
autosomal dominant nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripor2 RHO family interacting cell polarization regulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 21 OMIM
ClinVar		 PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 NCBI chrNW_004936671:1,064,937...1,232,985
Ensembl chrNW_004936671:1,051,742...1,093,021 		JBrowse link
autosomal dominant nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22 OMIM
ClinVar		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chrNW_004936788:1,125,332...1,264,372
Ensembl chrNW_004936788:1,174,544...1,262,746 		JBrowse link
autosomal dominant nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 23 OMIM
ClinVar		 PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chrNW_004936495:4,839,496...4,842,906
Ensembl chrNW_004936495:4,838,051...4,842,994 		JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 25 OMIM
ClinVar		 PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936492:13,436,136...13,486,173
Ensembl chrNW_004936492:13,435,848...13,486,169 		JBrowse link
G Trpv4 transient receptor potential cation channel subfamily V member 4 ISO OMIM:605583 MouseDO NCBI chrNW_004936769:1,424,526...1,447,547
Ensembl chrNW_004936769:1,424,549...1,447,516 		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: Deafness, autosomal dominant 27 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 NCBI chrNW_004936482:19,018,454...19,040,438 JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 28 OMIM
ClinVar		 PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936470:41,856,683...41,961,666
Ensembl chrNW_004936470:41,859,035...42,002,844 		JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition OMIM
ClinVar		 PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 More... NCBI chrNW_004936474:22,444,359...22,496,097
Ensembl chrNW_004936474:22,444,358...22,496,105 		JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 2b ClinVar PMID:9843210 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 More... NCBI chrNW_004936474:17,427,255...17,431,368
Ensembl chrNW_004936474:17,429,926...17,430,729 		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 chrNW_004936472:665,967...750,396
Ensembl chrNW_004936472:669,155...730,035 		JBrowse link
autosomal dominant nonsyndromic deafness 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp3 NLR family pyrin domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 34, with or without inflammation OMIM
ClinVar		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12355493 PMID:14872505 More... NCBI chrNW_004936864:709,693...732,119
Ensembl chrNW_004936864:709,709...731,718 		JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition OMIM
ClinVar		 PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 More... NCBI chrNW_004936503:8,669,465...8,826,340
Ensembl chrNW_004936503:8,719,540...8,825,795 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain susceptibility ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 More... NCBI chrNW_004936730:466,912...680,823
Ensembl chrNW_004936730:468,039...680,753 		JBrowse link
autosomal dominant nonsyndromic deafness 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Gjb4 gap junction protein beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3a ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chrNW_004936474:17,407,209...17,409,657
Ensembl chrNW_004936474:17,408,623...17,409,423 		JBrowse link
autosomal dominant nonsyndromic deafness 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:27480936 PMID:28492532 NCBI chrNW_004936720:1,201,725...1,334,483
Ensembl chrNW_004936720:1,201,697...1,334,527 		JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chrNW_004936720:954,450...998,483
Ensembl chrNW_004936720:954,556...998,487 		JBrowse link
G Gja3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chrNW_004936720:1,564,680...1,586,379
Ensembl chrNW_004936720:1,583,588...1,584,904 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Gjb6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b OMIM
ClinVar		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chrNW_004936720:1,485,895...1,494,673
Ensembl chrNW_004936720:1,493,733...1,494,518 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chrNW_004936720:1,041,216...1,168,725
Ensembl chrNW_004936720:1,041,211...1,168,748 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chrNW_004936720:1,005,111...1,029,613
Ensembl chrNW_004936720:1,005,101...1,029,617 		JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chrNW_004936720:836,145...948,460
Ensembl chrNW_004936720:836,145...950,696 		JBrowse link
autosomal dominant nonsyndromic deafness 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crym crystallin mu ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 40 OMIM
ClinVar		 PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936501:6,441,968...6,457,814
Ensembl chrNW_004936501:6,441,597...6,458,188 		JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2rx2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition OMIM
ClinVar		 PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chrNW_004936660:2,570,627...2,574,081
Ensembl chrNW_004936660:2,570,625...2,573,296 		JBrowse link
autosomal dominant nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc50 coiled-coil domain containing 50 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 44 OMIM
ClinVar		 PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 More... NCBI chrNW_004936900:495,551...563,184
Ensembl chrNW_004936900:495,547...556,316 		JBrowse link
autosomal dominant nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 48 ClinVar PMID:12736868 PMID:24033266 PMID:24616153 PMID:25741868 NCBI chrNW_004936646:1,238,630...1,258,491
Ensembl chrNW_004936646:1,238,865...1,258,040 		JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO OMIM:600652 MouseDO NCBI chrNW_004936706:1,390,737...1,396,472
Ensembl chrNW_004936706:1,391,814...1,396,571 		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 chrNW_004936889:121,724...184,374
Ensembl chrNW_004936889:122,853...183,928 		JBrowse link
autosomal dominant nonsyndromic deafness 4B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 4b OMIM
ClinVar		 PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chrNW_004936706:1,390,737...1,396,472
Ensembl chrNW_004936706:1,391,814...1,396,571 		JBrowse link
autosomal dominant nonsyndromic deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsdme gasdermin E ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 5 OMIM
ClinVar		 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 More... NCBI chrNW_004936478:1,655,487...1,720,996 JBrowse link
autosomal dominant nonsyndromic deafness 51 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 51 ClinVar PMID:20602916 NCBI chrNW_004936503:5,414,330...5,539,895
Ensembl chrNW_004936503:5,497,832...5,539,090 		JBrowse link
autosomal dominant nonsyndromic deafness 56 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pappa pappalysin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chrNW_004936487:5,000,279...5,379,786
Ensembl chrNW_004936487:5,144,044...5,376,367 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition OMIM
ClinVar		 PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004936487:4,172,263...4,256,780
Ensembl chrNW_004936487:4,172,886...4,233,126 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chrNW_004936487:4,057,637...4,081,207
Ensembl chrNW_004936487:4,057,643...4,081,207 		JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38 OMIM
ClinVar		 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More... NCBI chrNW_004936477:18,339,915...18,364,973
Ensembl chrNW_004936477:18,339,827...18,364,998 		JBrowse link
autosomal dominant nonsyndromic deafness 64 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 64 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936558:2,269,182...2,272,664
Ensembl chrNW_004936558:2,269,367...2,270,413 		JBrowse link
G Diablo diablo IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 64 OMIM
ClinVar		 PMID:21722859 PMID:25741868 PMID:28492532 NCBI chrNW_004936558:2,260,459...2,268,941
Ensembl chrNW_004936558:2,260,359...2,268,941 		JBrowse link
autosomal dominant nonsyndromic deafness 65 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chrNW_004936694:1,596,897...1,620,588
Ensembl chrNW_004936694:1,596,766...1,620,643 		JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65 OMIM
ClinVar		 PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 More... NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201 		JBrowse link
autosomal dominant nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd164 CD164 molecule ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 OMIM
ClinVar		 PMID:25741868 PMID:26197441 NCBI chrNW_004936564:5,510,718...5,522,637 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 OMIM:616340 MouseDO NCBI chrNW_004936514:9,882,066...9,916,378
Ensembl chrNW_004936514:9,891,258...9,915,416 		JBrowse link
autosomal dominant nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Homer2 homer scaffold protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 68 OMIM
ClinVar		 PMID:25741868 PMID:25816005 PMID:30047143 NCBI chrNW_004936483:17,500,962...17,634,804
Ensembl chrNW_004936483:17,507,533...17,539,105 		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 chrNW_004936507:5,566,144...5,650,412
Ensembl chrNW_004936507:5,565,821...5,650,828 		JBrowse link
autosomal dominant nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmx1a LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 7 OMIM
ClinVar		 PMID:25741868 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227 NCBI chrNW_004936481:19,863,487...19,984,299
Ensembl chrNW_004936481:19,863,487...19,983,926 		JBrowse link
autosomal dominant nonsyndromic deafness 70 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm2 minichromosome maintenance complex component 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 70 OMIM
ClinVar		 PMID:25741868 PMID:26196677 PMID:28492532 NCBI chrNW_004936798:756,350...768,600
Ensembl chrNW_004936798:756,588...765,338 		JBrowse link
autosomal dominant nonsyndromic deafness 71 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dmxl2 Dmx like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 71 OMIM
ClinVar		 PMID:25741868 PMID:27657680 PMID:28492532 PMID:33715530 PMID:35802133 More... NCBI chrNW_004936471:13,330,870...13,483,610
Ensembl chrNW_004936471:13,329,622...13,483,937 		JBrowse link
autosomal dominant nonsyndromic deafness 72 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a4 solute carrier family 44 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 72 OMIM
ClinVar		 PMID:25741868 PMID:28013291 PMID:28492532 NCBI chrNW_004936727:1,663,593...1,683,061
Ensembl chrNW_004936727:1,663,747...1,682,941 		JBrowse link
autosomal dominant nonsyndromic deafness 73 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 73 | ClinVar Annotator: match by term: Deafness, autosomal dominant 73 OMIM
ClinVar		 PMID:25741868 PMID:26467025 PMID:29309402 NCBI chrNW_004936698:1,372,604...1,569,905
Ensembl chrNW_004936698:1,372,607...1,569,905 		JBrowse link
autosomal dominant nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 74 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29860631 NCBI chrNW_004936478:7,900,432...8,499,300
Ensembl chrNW_004936478:7,900,432...8,393,631 		JBrowse link
autosomal dominant nonsyndromic deafness 75 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trrap transformation/transcription domain associated protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 75 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31231791 NCBI chrNW_004936750:1,245,926...1,360,226
Ensembl chrNW_004936750:1,248,320...1,359,473 		JBrowse link
autosomal dominant nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 76 | ClinVar Annotator: match by term: PLS1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chrNW_004936540:4,205,871...4,323,121
Ensembl chrNW_004936540:4,205,844...4,323,120 		JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 (ABCC1 blood group) ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar		 PMID:31273342 NCBI chrNW_004936501:3,400,971...3,467,061
Ensembl chrNW_004936501:3,401,285...3,470,460 		JBrowse link
autosomal dominant nonsyndromic deafness 78 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 78 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32294086 PMID:32658972 NCBI chrNW_004936504:1,378,812...1,465,463
Ensembl chrNW_004936504:1,378,810...1,465,623 		JBrowse link
autosomal dominant nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scd5 stearoyl-CoA desaturase 5 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 79 OMIM
ClinVar		 PMID:31972369 NCBI chrNW_004936738:1,755,000...1,895,292
Ensembl chrNW_004936738:1,754,310...1,895,303 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 80 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Greb1l GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29955957 PMID:32585897 NCBI chrNW_004936550:1,110,679...1,240,463
Ensembl chrNW_004936550:1,122,260...1,238,682 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 81 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 81 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29713870 NCBI chrNW_004936712:1,805,141...1,827,086
Ensembl chrNW_004936712:1,805,795...1,825,676 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 82 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: ATP2B2-related Progressive hearing impairment | ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal dominant 82 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30535804 NCBI chrNW_004936602:2,744,757...3,011,051
Ensembl chrNW_004936602:2,744,759...3,007,940 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 83 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map1b microtubule associated protein 1B ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 83 OMIM
ClinVar		 PMID:25741868 PMID:33268592 NCBI chrNW_004936549:4,266,371...4,371,579
Ensembl chrNW_004936549:4,266,351...4,371,644 		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 chrNW_004936472:665,967...750,396
Ensembl chrNW_004936472:669,155...730,035 		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 chrNW_004936474:7,307,475...7,376,086
Ensembl chrNW_004936474:7,307,439...7,376,074 		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 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 86 ClinVar
OMIM		 PMID:32776944 NCBI chrNW_004936550:590,119...638,152
Ensembl chrNW_004936550:590,058...641,390 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 87 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4kb phosphatidylinositol 4-kinase beta ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 87 ClinVar
OMIM		 PMID:33358777 NCBI chrNW_004936580:1,495,833...1,523,307
Ensembl chrNW_004936580:1,495,833...1,523,276 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha10 EPH receptor A10 ISO OMIM NCBI chrNW_004936474:19,916,666...19,935,958 JBrowse link
Autosomal Dominant Nonsyndromic Deafness 89 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 89 ClinVar
OMIM		 PMID:25741868 PMID:33111345 NCBI chrNW_004936687:1,435,977...1,437,138
Ensembl chrNW_004936687:1,436,009...1,437,067 		JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 9 OMIM
ClinVar		 PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chrNW_004936494:5,617,201...5,633,500
Ensembl chrNW_004936494:5,617,016...5,633,083 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 90 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 90 OMIM
ClinVar		 PMID:25741868 PMID:29880844 PMID:34788109 NCBI chrNW_004936484:1,509,248...1,723,717
Ensembl chrNW_004936484:1,509,235...1,723,554 		JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:28492532 PMID:28951997 PMID:30303587 NCBI chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO OMIM:607197 MouseDO NCBI chrNW_004936491:15,112,422...15,138,716
Ensembl chrNW_004936491:15,112,321...15,139,525 		JBrowse link
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chrNW_004936522:6,329,981...6,338,825
Ensembl chrNW_004936522:6,327,594...6,338,823 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936599:2,246,139...2,250,963
Ensembl chrNW_004936599:2,246,177...2,250,865 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23023331 PMID:25741868 PMID:30303587 NCBI chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chrNW_004936474:3,591,134...3,601,562 JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:25741868 PMID:30303587 NCBI chrNW_004936500:6,207,856...6,227,582
Ensembl chrNW_004936500:6,226,618...6,227,337 		JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chrNW_004936476:14,234,447...14,381,582
Ensembl chrNW_004936476:14,283,006...14,381,634 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:32747562 NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434 		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 chrNW_004936587:1,785,721...1,951,474
Ensembl chrNW_004936587:1,785,303...1,951,332 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993 		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 chrNW_004936488:5,350,133...5,452,366
Ensembl chrNW_004936488:5,292,466...5,454,689 		JBrowse link
G Gipc3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004936588:2,034,576...2,038,274
Ensembl chrNW_004936588:2,034,491...2,038,280 		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 chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Gjb3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chrNW_004936474:17,427,255...17,431,368
Ensembl chrNW_004936474:17,429,926...17,430,729 		JBrowse link
G Gosr2 golgi SNAP receptor complex member 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:35802133 PMID:37074134 NCBI chrNW_004936541:1,845,501...1,866,014
Ensembl chrNW_004936541:1,839,045...1,866,074 		JBrowse link
G Gpr156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:37814107 NCBI chrNW_004936536:6,954,896...7,047,102
Ensembl chrNW_004936536:6,953,486...7,047,108 		JBrowse link
G Gpsm2 G protein signaling modulator 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chrNW_004936704:462,984...516,929
Ensembl chrNW_004936704:462,971...516,829 		JBrowse link
G Grxcr1 glutaredoxin and cysteine rich domain containing 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20137778 PMID:30303587 NCBI chrNW_004936482:9,981,410...10,087,222
Ensembl chrNW_004936482:9,981,356...10,087,222 		JBrowse link
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chrNW_004936504:8,775,832...8,789,254
Ensembl chrNW_004936504:8,775,855...8,788,076 		JBrowse link
G Ildr1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:15641023 PMID:21255762 PMID:25741868 PMID:30303587 NCBI chrNW_004936536:8,351,394...8,383,857
Ensembl chrNW_004936536:8,351,359...8,383,907 		JBrowse link
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 NCBI chrNW_004936476:23,479,939...23,491,611
Ensembl chrNW_004936476:23,482,756...23,491,811 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G LOC101975324 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260 		JBrowse link
G LOC101976443 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chrNW_004936517:271,909...409,818
Ensembl chrNW_004936517:271,909...409,691 		JBrowse link
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004936480:191,526...216,163
Ensembl chrNW_004936480:190,014...216,069 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:19650862 PMID:21185009 PMID:30303587 NCBI chrNW_004936545:3,480,995...3,637,913
Ensembl chrNW_004936545:3,480,853...3,640,924 		JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:17546645 PMID:25741868 PMID:27573290 PMID:28492532 PMID:30303587 NCBI chrNW_004936741:1,669,680...1,724,929
Ensembl chrNW_004936741:1,669,680...1,723,891 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chrNW_004936501:7,383,963...7,456,470
Ensembl chrNW_004936501:7,392,616...7,456,677 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:20301429 More... NCBI chrNW_004936493:5,916,113...5,999,867
Ensembl chrNW_004936493:5,916,113...5,999,784 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chrNW_004936528:1,473,842...1,549,586
Ensembl chrNW_004936528:1,475,128...1,548,849 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:28492532 PMID:31253780 NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107 		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 chrNW_004936509:7,670,557...7,677,480
Ensembl chrNW_004936509:7,670,325...7,677,581 		JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004936504:8,348,460...8,351,246
Ensembl chrNW_004936504:8,348,398...8,351,804 		JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004936698:1,372,604...1,569,905
Ensembl chrNW_004936698:1,372,607...1,569,905 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9398842 PMID:9536098 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chrNW_004936479:16,435,779...16,483,139
Ensembl chrNW_004936479:16,435,739...16,481,332 		JBrowse link
G Tmc1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11850618 PMID:16134132 PMID:16199547 PMID:17877751 PMID:18414213 More... NCBI chrNW_004936503:8,669,465...8,826,340
Ensembl chrNW_004936503:8,719,540...8,825,795 		JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chrNW_004936596:531,260...540,608
Ensembl chrNW_004936596:531,254...541,693 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11137999 PMID:11424922 PMID:12920079 PMID:16021470 PMID:24033266 More... NCBI chrNW_004936500:1,480,688...1,501,735
Ensembl chrNW_004936500:1,480,688...1,501,735 		JBrowse link
G Togaram2 TOG array regulator of axonemal microtubules 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar NCBI chrNW_004936493:3,792,358...3,830,953
Ensembl chrNW_004936493:3,793,449...3,830,860 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:20170899 PMID:30303587 NCBI chrNW_004936669:786,569...794,713
Ensembl chrNW_004936669:786,808...794,155 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chrNW_004936492:3,337,791...3,390,420 JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238 		JBrowse link
autosomal recessive nonsyndromic deafness 100 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 100 OMIM
ClinVar		 PMID:15538632 PMID:25741868 PMID:29590114 NCBI chrNW_004936523:1,321,755...1,418,267
Ensembl chrNW_004936523:1,331,487...1,418,290 		JBrowse link
autosomal recessive nonsyndromic deafness 101 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 101 OMIM
ClinVar		 PMID:24619944 PMID:25741868 PMID:28492532 NCBI chrNW_004936504:8,775,832...8,789,254
Ensembl chrNW_004936504:8,775,855...8,788,076 		JBrowse link
autosomal recessive nonsyndromic deafness 102 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 102 OMIM
ClinVar		 PMID:24033266 PMID:24741995 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chrNW_004936587:1,785,721...1,951,474
Ensembl chrNW_004936587:1,785,303...1,951,332 		JBrowse link
autosomal recessive nonsyndromic deafness 103 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 103 OMIM
ClinVar		 PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 NCBI chrNW_004936476:14,234,447...14,381,582
Ensembl chrNW_004936476:14,283,006...14,381,634 		JBrowse link
G Dicer1 dicer 1, ribonuclease III ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 103 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936846:528,768...584,599
Ensembl chrNW_004936846:532,972...575,689 		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 chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		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 chrNW_004936671:1,064,937...1,232,985
Ensembl chrNW_004936671:1,051,742...1,093,021 		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 chrNW_004936587:1,785,721...1,951,474
Ensembl chrNW_004936587:1,785,303...1,951,332 		JBrowse link
G Eps8l2 EPS8 signaling adaptor L2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:26282398 PMID:28281779 PMID:28492532 More... NCBI chrNW_004936888:506,144...523,280
Ensembl chrNW_004936888:506,138...523,302 		JBrowse link
autosomal recessive nonsyndromic deafness 107 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wbp2 WW domain binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 107 OMIM
ClinVar		 PMID:25741868 PMID:26881968 PMID:28492532 NCBI chrNW_004936594:1,023,085...1,031,571 JBrowse link
autosomal recessive nonsyndromic deafness 108 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ror1 receptor tyrosine kinase like orphan receptor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 108 OMIM
ClinVar		 PMID:25741868 PMID:27162350 PMID:28492532 NCBI chrNW_004936692:1,327,779...1,702,350
Ensembl chrNW_004936692:1,328,195...1,699,703 		JBrowse link
autosomal recessive nonsyndromic deafness 109 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrp1 epithelial splicing regulatory protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 109 OMIM
ClinVar		 PMID:25741868 PMID:29107558 NCBI chrNW_004936544:7,633,266...7,690,624
Ensembl chrNW_004936544:7,633,071...7,691,655 		JBrowse link
autosomal recessive nonsyndromic deafness 110 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 110 OMIM
ClinVar		 PMID:24033266 PMID:25230692 PMID:25741868 PMID:28492532 PMID:29449721 More... NCBI chrNW_004936494:5,617,201...5,633,500
Ensembl chrNW_004936494:5,617,016...5,633,083 		JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpzl2 myelin protein zero like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 More... NCBI chrNW_004936542:3,332,822...3,344,663
Ensembl chrNW_004936542:3,333,830...3,343,852 		JBrowse link
autosomal recessive nonsyndromic deafness 112 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 112 OMIM
ClinVar		 PMID:24312468 PMID:25741868 NCBI chrNW_004936549:4,842,004...4,943,399 JBrowse link
autosomal recessive nonsyndromic deafness 113 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 113 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chrNW_004936706:1,390,737...1,396,472
Ensembl chrNW_004936706:1,391,814...1,396,571 		JBrowse link
autosomal recessive nonsyndromic deafness 114 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grap GRB2 related adaptor protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 114 OMIM
ClinVar		 PMID:25741868 PMID:30610177 NCBI chrNW_004936881:580,713...607,553
Ensembl chrNW_004936881:580,794...606,375 		JBrowse link
autosomal recessive nonsyndromic deafness 115 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 115 OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004936677:1,058,601...1,093,233
Ensembl chrNW_004936677:1,058,595...1,093,147 		JBrowse link
autosomal recessive nonsyndromic deafness 116 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 116 OMIM
ClinVar		 PMID:25741868 PMID:30311386 PMID:31175426 PMID:35802133 PMID:36633841 NCBI chrNW_004936694:1,155,252...1,156,007
Ensembl chrNW_004936694:1,155,259...1,155,912 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn2 clarin 2 ISO ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 OMIM
ClinVar		 PMID:25741868 PMID:33496845 NCBI chrNW_004936477:10,674,996...10,683,851
Ensembl chrNW_004936477:10,672,661...10,683,872 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 119 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 119 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34626583 NCBI chrNW_004936471:8,064,708...8,078,968
Ensembl chrNW_004936471:8,065,363...8,080,939 		JBrowse link
autosomal recessive nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp2b2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of OMIM
ClinVar		 PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 More... NCBI chrNW_004936602:2,744,757...3,011,051
Ensembl chrNW_004936602:2,744,759...3,007,940 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		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 chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:18429043 PMID:24033266 PMID:24416283 PMID:25741868 PMID:28492532 NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 120 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101962737 obscurin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chrNW_004936864:619...33,574 JBrowse link
G Minar2 membrane integral NOTCH2 associated receptor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 OMIM
ClinVar		 PMID:35727972 NCBI chrNW_004936504:2,830,286...2,847,785
Ensembl chrNW_004936504:2,830,236...2,847,847 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 121 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 121 OMIM
ClinVar		 PMID:37814107 NCBI chrNW_004936536:6,954,896...7,047,102
Ensembl chrNW_004936536:6,953,486...7,047,108 		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 chrNW_004936472:10,062,811...10,114,356
Ensembl chrNW_004936472:10,062,827...10,113,238 		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 chrNW_004936501:13,401,095...13,408,316
Ensembl chrNW_004936501:13,401,989...13,408,325 		JBrowse link
autosomal recessive nonsyndromic deafness 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gipc3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 95 | ClinVar Annotator: match by term: Deafness, autosomal recessive 15 OMIM
ClinVar		 PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More... NCBI chrNW_004936588:2,034,576...2,038,274
Ensembl chrNW_004936588:2,034,491...2,038,280 		JBrowse link
autosomal recessive nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:11687802 PMID:21681106 PMID:25741868 PMID:26011646 NCBI chrNW_004936471:6,791,490...6,809,048
Ensembl chrNW_004936471:6,793,492...6,808,326 		JBrowse link
G Ckmt1a creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chrNW_004936471:6,754,514...6,760,025 JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chrNW_004936471:6,926,044...7,233,006
Ensembl chrNW_004936471:6,928,398...7,232,765 		JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chrNW_004936471:6,809,181...6,834,189
Ensembl chrNW_004936471:6,809,195...6,836,169 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chrNW_004936471:6,707,865...6,751,064
Ensembl chrNW_004936471:6,707,893...6,751,045 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition OMIM
ClinVar		 PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chrNW_004936471:6,760,289...6,777,425
Ensembl chrNW_004936471:6,760,294...6,777,425 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18 ClinVar PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otog otogelin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition OMIM
ClinVar		 PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More... NCBI chrNW_004936528:1,473,842...1,549,586
Ensembl chrNW_004936528:1,475,128...1,548,849 		JBrowse link
autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6		 ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chrNW_004936720:1,201,725...1,334,483
Ensembl chrNW_004936720:1,201,697...1,334,527 		JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004936720:954,450...998,483
Ensembl chrNW_004936720:954,556...998,487 		JBrowse link
G Gja3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004936720:1,564,680...1,586,379
Ensembl chrNW_004936720:1,583,588...1,584,904 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Gjb3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB3 ClinVar PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936474:17,427,255...17,431,368
Ensembl chrNW_004936474:17,429,926...17,430,729 		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 chrNW_004936474:17,407,209...17,409,657
Ensembl chrNW_004936474:17,408,623...17,409,423 		JBrowse link
G Gjb6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6 OMIM
ClinVar		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chrNW_004936720:1,485,895...1,494,673
Ensembl chrNW_004936720:1,493,733...1,494,518 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004936720:1,041,216...1,168,725
Ensembl chrNW_004936720:1,041,211...1,168,748 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004936720:1,005,111...1,029,613
Ensembl chrNW_004936720:1,005,101...1,029,617 		JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chrNW_004936720:836,145...948,460
Ensembl chrNW_004936720:836,145...950,696 		JBrowse link
autosomal recessive nonsyndromic deafness 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryl1 crystallin lambda 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:11807148 PMID:12172394 PMID:12885339 PMID:14571368 PMID:15638823 More... NCBI chrNW_004936720:1,201,725...1,334,483
Ensembl chrNW_004936720:1,201,697...1,334,527 		JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004936720:954,450...998,483
Ensembl chrNW_004936720:954,556...998,487 		JBrowse link
G Gja3 gap junction protein alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004936720:1,564,680...1,586,379
Ensembl chrNW_004936720:1,583,588...1,584,904 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:3 PMID:2706105 PMID:2956987 PMID:8789457 PMID:9139825 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Gjb6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b OMIM
ClinVar		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chrNW_004936720:1,485,895...1,494,673
Ensembl chrNW_004936720:1,493,733...1,494,518 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004936720:1,041,216...1,168,725
Ensembl chrNW_004936720:1,041,211...1,168,748 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004936720:1,005,111...1,029,613
Ensembl chrNW_004936720:1,005,101...1,029,617 		JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chrNW_004936720:836,145...948,460
Ensembl chrNW_004936720:836,145...950,696 		JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2 OMIM
ClinVar		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101975324 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 21 | ClinVar Annotator: match by term: Deafness, neurosensory autosomal recessive 21 | ClinVar Annotator: match by term: TECTA-related condition OMIM
ClinVar		 PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 More... NCBI chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260 		JBrowse link
autosomal recessive nonsyndromic deafness 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igsf6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chrNW_004936501:7,359,380...7,373,269
Ensembl chrNW_004936501:7,361,433...7,371,572 		JBrowse link
G LOC101973430 cytochrome b-c1 complex subunit 2, mitochondrial ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chrNW_004936501:6,947,985...6,968,846
Ensembl chrNW_004936501:6,947,985...6,970,254 		JBrowse link
G Mettl9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chrNW_004936501:7,335,124...7,373,978
Ensembl chrNW_004936501:7,335,355...7,373,481 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition OMIM
ClinVar		 PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 More... NCBI chrNW_004936501:7,383,963...7,456,470
Ensembl chrNW_004936501:7,392,616...7,456,677 		JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 23 OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
autosomal recessive nonsyndromic deafness 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rdx radixin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 24 OMIM
ClinVar		 PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:25741916 More... NCBI chrNW_004936612:3,992,542...4,060,598
Ensembl chrNW_004936612:3,992,542...4,040,315 		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: Deafness, autosomal recessive 25 OMIM
ClinVar		 PMID:16380907 PMID:20137774 PMID:20137778 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936482:9,981,410...10,087,222
Ensembl chrNW_004936482:9,981,356...10,087,222 		JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gab1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26 OMIM
ClinVar		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chrNW_004936535:4,934,743...5,048,698
Ensembl chrNW_004936535:4,932,261...5,048,693 		JBrowse link
autosomal recessive nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trio trio Rho guanine nucleotide exchange factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:25741868 PMID:28492532 PMID:32109419 NCBI chrNW_004936665:1,821,580...2,029,839
Ensembl chrNW_004936665:1,821,583...2,030,371 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition OMIM
ClinVar		 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 PMID:24033266 More... NCBI chrNW_004936492:3,337,791...3,390,420 JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 29 OMIM
ClinVar		 PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 More... NCBI chrNW_004936500:6,207,856...6,227,582
Ensembl chrNW_004936500:6,226,618...6,227,337 		JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936496:12,381,225...12,505,121
Ensembl chrNW_004936496:12,381,126...12,505,150 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3 OMIM
ClinVar		 PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 More... NCBI chrNW_004936741:1,669,680...1,724,929
Ensembl chrNW_004936741:1,669,680...1,723,891 		JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 30 | ClinVar Annotator: match by term: MYO3A-related condition OMIM
ClinVar		 PMID:9536098 PMID:12032315 PMID:17344846 PMID:17576681 PMID:21165622 More... NCBI chrNW_004936484:1,509,248...1,723,717
Ensembl chrNW_004936484:1,509,235...1,723,554 		JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF OMIM
ClinVar		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:17576681 More... NCBI chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238 		JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101972535 dual specificity protein phosphatase CDC14A ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32 OMIM
ClinVar		 PMID:12634867 PMID:24033266 PMID:25741868 PMID:27259055 PMID:28492532 More... NCBI chrNW_004936748:479,026...612,554
Ensembl chrNW_004936748:479,503...623,126 		JBrowse link
autosomal recessive nonsyndromic deafness 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esrrb estrogen related receptor beta ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 35 OMIM
ClinVar		 PMID:12529709 PMID:18179891 PMID:22951369 PMID:23767834 PMID:24033266 More... NCBI chrNW_004936488:5,350,133...5,452,366
Ensembl chrNW_004936488:5,292,466...5,454,689 		JBrowse link
autosomal recessive nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 36 | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, with or without vestibular involvement | ClinVar Annotator: match by term: Deafness, autosomal recessive 36, without vestibular involvement | ClinVar Annotator: match by term: Deafness, without vestibular involvement, autosomal dominant OMIM
ClinVar		 PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 More... NCBI chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993 		JBrowse link
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition OMIM
ClinVar		 PMID:9536098 PMID:11167014 PMID:12687499 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936788:1,125,332...1,264,372
Ensembl chrNW_004936788:1,174,544...1,262,746 		JBrowse link
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 39 OMIM
ClinVar		 PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936734:354,798...428,356
Ensembl chrNW_004936734:356,115...428,779 		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 chrNW_004936706:1,390,737...1,396,472
Ensembl chrNW_004936706:1,391,814...1,396,571 		JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 OMIM
ClinVar		 PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 More... NCBI chrNW_004936609:4,667,425...4,694,259
Ensembl chrNW_004936609:4,667,425...4,669,746 		JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 OMIM
ClinVar		 PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 More... NCBI chrNW_004936740:555,948...589,219
Ensembl chrNW_004936740:555,998...586,353 		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 chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:20032092 PMID:20645851 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936672:1,550,865...1,606,268
Ensembl chrNW_004936672:1,568,732...1,602,931 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 | ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4 | ClinVar Annotator: match by term: SLC26A4-related disorder
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4		 OMIM
ClinVar		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... NCBI chrNW_004936479:16,435,779...16,483,139
Ensembl chrNW_004936479:16,435,739...16,481,332 		JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ildr1 immunoglobulin like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 42 | ClinVar Annotator: match by term: ILDR1-related condition OMIM
ClinVar		 PMID:15641023 PMID:21255762 PMID:24033266 PMID:25668204 PMID:25741868 More... NCBI chrNW_004936536:8,351,394...8,383,857
Ensembl chrNW_004936536:8,351,359...8,383,907 		JBrowse link
autosomal recessive nonsyndromic deafness 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adcy1 adenylate cyclase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 44 OMIM
ClinVar		 PMID:15583425 PMID:24033266 PMID:24482543 PMID:24824130 PMID:25741868 More... NCBI chrNW_004936478:20,310,509...20,477,506
Ensembl chrNW_004936478:20,310,503...20,456,141 		JBrowse link
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 48 OMIM
ClinVar		 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 More... NCBI chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		JBrowse link
G Sh2d7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 48 ClinVar PMID:25741868 NCBI chrNW_004936471:36,880,275...36,885,096 JBrowse link
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49 OMIM
ClinVar		 PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 More... NCBI chrNW_004936480:191,526...216,163
Ensembl chrNW_004936480:190,014...216,069 		JBrowse link
autosomal recessive nonsyndromic deafness 53 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 53 OMIM
ClinVar		 PMID:10677296 PMID:15558753 PMID:16033917 PMID:21204229 PMID:22246659 More... NCBI chrNW_004936476:25,663,563...25,692,315
Ensembl chrNW_004936476:25,663,755...25,691,344 		JBrowse link
autosomal recessive nonsyndromic deafness 57 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 57 OMIM
ClinVar		 PMID:16199547 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 More... NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107 		JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 OMIM
ClinVar		 PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 More... NCBI chrNW_004936509:7,670,557...7,677,480
Ensembl chrNW_004936509:7,670,325...7,677,581 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chrNW_004936509:7,653,192...7,668,925
Ensembl chrNW_004936509:7,653,047...7,668,896 		JBrowse link
autosomal recessive nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 6 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 6 | ClinVar Annotator: match by term: TMIE-related condition OMIM
ClinVar		 PMID:8593615 PMID:12145746 PMID:16389551 PMID:19438934 PMID:24033266 More... NCBI chrNW_004936596:531,260...540,608
Ensembl chrNW_004936596:531,254...541,693 		JBrowse link
autosomal recessive nonsyndromic deafness 61 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a5 solute carrier family 26 member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 61 OMIM
ClinVar		 PMID:12239568 PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 More... NCBI chrNW_004936479:20,104,625...20,145,392
Ensembl chrNW_004936479:20,104,595...20,144,601 		JBrowse link
autosomal recessive nonsyndromic deafness 63 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anapc15 anaphase promoting complex subunit 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 PMID:25788562 PMID:26467025 PMID:28492532 NCBI chrNW_004936498:1,460,795...1,468,363
Ensembl chrNW_004936498:1,463,810...1,468,351 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chrNW_004936498:1,358,598...1,438,041
Ensembl chrNW_004936498:1,359,285...1,438,382 		JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 66 OMIM
ClinVar		 PMID:16199547 PMID:16244493 PMID:23677054 PMID:23746548 PMID:25557784 More... NCBI chrNW_004936671:605,114...736,217
Ensembl chrNW_004936671:605,084...736,674 		JBrowse link
autosomal recessive nonsyndromic deafness 67 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhfpl5 LHFPL tetraspan subfamily member 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 67 | ClinVar Annotator: match by term: LHFPL5-related condition OMIM
ClinVar		 PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:25741905 More... NCBI chrNW_004936476:23,479,939...23,491,611
Ensembl chrNW_004936476:23,482,756...23,491,811 		JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1pr2 sphingosine-1-phosphate receptor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 68 OMIM
ClinVar		 PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26805784 More... NCBI chrNW_004936659:579,771...587,077
Ensembl chrNW_004936659:579,867...586,885 		JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101975324 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:35802133 PMID:36633841 NCBI chrNW_004936501:7,383,963...7,456,470
Ensembl chrNW_004936501:7,392,616...7,456,677 		JBrowse link
G Tmc1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7 OMIM
ClinVar		 PMID:9536098 PMID:11850618 PMID:16134132 PMID:16199547 PMID:16287143 More... NCBI chrNW_004936503:8,669,465...8,826,340
Ensembl chrNW_004936503:8,719,540...8,825,795 		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 chrNW_004936491:1,989,429...2,032,430
Ensembl chrNW_004936491:1,987,097...2,032,430 		JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msrb3 methionine sulfoxide reductase B3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 74 OMIM
ClinVar		 PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chrNW_004936545:3,480,995...3,637,913
Ensembl chrNW_004936545:3,480,853...3,640,924 		JBrowse link
autosomal recessive nonsyndromic deafness 76 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syne4 spectrin repeat containing nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 76 OMIM
ClinVar		 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 More... NCBI chrNW_004936922:40,640...44,414
Ensembl chrNW_004936922:40,684...44,312 		JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101976443 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16936105 PMID:17576681 PMID:19732867 More... NCBI chrNW_004936517:271,909...409,818
Ensembl chrNW_004936517:271,909...409,691 		JBrowse link
autosomal recessive nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem203 transmembrane protein 203 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 79 ClinVar PMID:25741868 NCBI chrNW_004936669:782,494...783,708
Ensembl chrNW_004936669:782,509...782,919 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 79 OMIM
ClinVar		 PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:26969326 More... NCBI chrNW_004936669:786,569...794,713
Ensembl chrNW_004936669:786,808...794,155 		JBrowse link
autosomal recessive nonsyndromic deafness 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: Deafness, autosomal recessive 8 | ClinVar Annotator: match by term: TMPRSS3-related condition OMIM
ClinVar		 PMID:3285355 PMID:9536098 PMID:11137999 PMID:11424922 PMID:11462234 More... NCBI chrNW_004936500:1,480,688...1,501,735
Ensembl chrNW_004936500:1,480,688...1,501,735 		JBrowse link
autosomal recessive nonsyndromic deafness 84A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84 OMIM
ClinVar		 PMID:20346435 PMID:25741868 PMID:26467025 NCBI chrNW_004936698:1,372,604...1,569,905
Ensembl chrNW_004936698:1,372,607...1,569,905 		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 chrNW_004936698:1,173,266...1,295,785
Ensembl chrNW_004936698:1,180,089...1,295,785 		JBrowse link
autosomal recessive nonsyndromic deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86 ClinVar PMID:22277662 PMID:24033266 PMID:24848745 PMID:25741868 PMID:26371875 More... NCBI chrNW_004936694:1,596,897...1,620,588
Ensembl chrNW_004936694:1,596,766...1,620,643 		JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86 OMIM
ClinVar		 PMID:22211675 PMID:22277662 PMID:24033266 PMID:24387994 PMID:24729539 More... NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201 		JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 88 OMIM
ClinVar		 PMID:24039609 PMID:25741868 PMID:28492532 NCBI chrNW_004936712:1,805,141...1,827,086
Ensembl chrNW_004936712:1,805,795...1,825,676 		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 chrNW_004936475:24,294,699...24,312,051
Ensembl chrNW_004936475:24,292,876...24,312,076 		JBrowse link
autosomal recessive nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chrNW_004936479:1,441,508...1,477,133
Ensembl chrNW_004936479:1,441,437...1,478,107 		JBrowse link
G Cep135 centrosomal protein 135 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:28866084 NCBI chrNW_004936482:18,230,083...18,299,219
Ensembl chrNW_004936482:18,230,438...18,298,259 		JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chrNW_004936504:12,548,452...12,645,236
Ensembl chrNW_004936504:12,548,452...12,643,399 		JBrowse link
G Igsf6 immunoglobulin superfamily member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chrNW_004936501:7,359,380...7,373,269
Ensembl chrNW_004936501:7,361,433...7,371,572 		JBrowse link
G LOC101975324 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:18381613 PMID:25008054 PMID:28492532 PMID:33111345 NCBI chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260 		JBrowse link
G Mettl9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chrNW_004936501:7,335,124...7,373,978
Ensembl chrNW_004936501:7,335,355...7,373,481 		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 chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chrNW_004936501:7,383,963...7,456,470
Ensembl chrNW_004936501:7,392,616...7,456,677 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder | ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition OMIM
ClinVar		 PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 More... NCBI chrNW_004936493:5,916,113...5,999,867
Ensembl chrNW_004936493:5,916,113...5,999,784 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chrNW_004936499:10,534,953...10,553,411
Ensembl chrNW_004936499:10,534,950...10,551,012 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chrNW_004936479:1,425,765...1,437,338
Ensembl chrNW_004936479:1,425,722...1,437,374 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chrNW_004936499:10,501,837...10,506,793
Ensembl chrNW_004936499:10,437,611...10,504,320 		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 chrNW_004936741:1,332,353...1,408,116
Ensembl chrNW_004936741:1,332,339...1,406,628 		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 chrNW_004936492:13,436,136...13,486,173
Ensembl chrNW_004936492:13,435,848...13,486,169 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chrNW_004936470:7,886,169...7,888,592
Ensembl chrNW_004936470:7,881,890...7,888,592 		JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:14640030 PMID:15123043 PMID:15299640 PMID:15645642 PMID:17338921 More... NCBI chrNW_004936682:1,628,489...1,635,495
Ensembl chrNW_004936682:1,628,341...1,635,566 		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 chrNW_004936588:3,821,171...3,826,827
Ensembl chrNW_004936588:3,821,110...3,826,940 		JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 93 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:22981119 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936599:2,246,139...2,250,963
Ensembl chrNW_004936599:2,246,177...2,250,865 		JBrowse link
autosomal recessive nonsyndromic deafness 94 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 94 | ClinVar Annotator: match by term: Deafness, autosomal recessive 94 OMIM
ClinVar		 PMID:25741868 PMID:25807530 PMID:28492532 NCBI chrNW_004936498:6,967,277...7,108,130
Ensembl chrNW_004936498:6,972,180...7,108,116 		JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase susceptibility ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 97 ClinVar
OMIM		 PMID:12920089 PMID:19318576 PMID:19723643 PMID:20139696 PMID:21774103 More... NCBI chrNW_004936589:2,280,803...2,390,179
Ensembl chrNW_004936589:2,280,799...2,390,179 		JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101966782 keratin-associated protein 10-12 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:25741868 NCBI chrNW_004936778:1,582,160...1,583,314 JBrowse link
G Tspear thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 OMIM
ClinVar		 PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chrNW_004936778:1,576,580...1,660,344
Ensembl chrNW_004936778:1,478,617...1,660,331 		JBrowse link
autosomal recessive nonsyndromic deafness 99 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem132e transmembrane protein 132E ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 99 OMIM
ClinVar		 PMID:12673573 PMID:25331638 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004936538:524,880...575,849
Ensembl chrNW_004936538:524,419...575,234 		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 OMIM
ClinVar		 PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 NCBI chrNW_004936474:11,460,266...11,517,420
Ensembl chrNW_004936474:11,459,929...11,517,478 		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 OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		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 ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A OMIM
ClinVar		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chrNW_004936522:6,329,981...6,338,825
Ensembl chrNW_004936522:6,327,594...6,338,823 		JBrowse link
Bartter disease type 4b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Bartter disease type 4B OMIM
ClinVar		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936474:3,591,134...3,601,562 JBrowse link
Bilateral Vestibulopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfc1 replication factor C subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30926972 NCBI chrNW_004936482:6,938,138...7,009,144
Ensembl chrNW_004936482:6,938,681...6,993,705 		JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101961358 mitochondrial chaperone BCS1 ISO ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome OMIM
ClinVar		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chrNW_004936569:1,104,493...1,108,708
Ensembl chrNW_004936569:1,104,549...1,108,708 		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 chrNW_004936470:7,886,169...7,888,592
Ensembl chrNW_004936470:7,881,890...7,888,592 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Pontobulbar palsy and neurosensory deafness ClinVar PMID:22718020 PMID:24033266 PMID:25741868 PMID:26072523 PMID:27702554 More... NCBI chrNW_004936485:17,771,797...17,777,637 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 Csnk2a1 casein kinase 2 alpha 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chrNW_004936485:17,966,993...18,021,191 JBrowse link
G Rbck1 RANBP2-type and C3HC4-type zinc finger containing 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chrNW_004936485:18,057,569...18,071,787
Ensembl chrNW_004936485:18,057,534...18,071,816 		JBrowse link
G Scrt2 scratch family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chrNW_004936485:17,812,995...17,866,492
Ensembl chrNW_004936485:17,863,644...17,864,486 		JBrowse link
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 chrNW_004936470:7,886,169...7,888,592
Ensembl chrNW_004936470:7,881,890...7,888,592 		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 chrNW_004936485:17,771,797...17,777,637 JBrowse link
G Srxn1 sulfiredoxin 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chrNW_004936485:17,873,283...17,879,746
Ensembl chrNW_004936485:17,873,286...17,877,783 		JBrowse link
G Tbc1d20 TBC1 domain family member 20 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chrNW_004936485:18,034,776...18,055,741
Ensembl chrNW_004936485:18,034,732...18,055,767 		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 Adck5 aarF domain containing kinase 5 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,857,284...7,870,180
Ensembl chrNW_004936470:7,857,446...7,870,377 		JBrowse link
G Bop1 BOP1 ribosomal biogenesis factor ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,950,952...7,977,186
Ensembl chrNW_004936470:7,950,982...7,977,540 		JBrowse link
G Ccdc166 coiled-coil domain containing 166 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,435,940...8,438,861 JBrowse link
G Cpsf1 cleavage and polyadenylation specific factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,848,846...7,857,291
Ensembl chrNW_004936470:7,849,329...7,857,214 		JBrowse link
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,916,438...7,926,089
Ensembl chrNW_004936470:7,916,438...7,926,088 		JBrowse link
G Eef1d eukaryotic translation elongation factor 1 delta ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,538,899...8,553,645
Ensembl chrNW_004936470:8,538,821...8,553,970 		JBrowse link
G Exosc4 exosome component 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,097,218...8,099,319
Ensembl chrNW_004936470:8,097,267...8,099,201 		JBrowse link
G Fam83h family with sequence similarity 83 member H ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,413,055...8,418,360
Ensembl chrNW_004936470:8,406,912...8,418,895 		JBrowse link
G Fbxl6 F-box and leucine rich repeat protein 6 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,888,676...7,891,796
Ensembl chrNW_004936470:7,888,048...7,893,460 		JBrowse link
G Foxh1 forkhead box H1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,789,486...7,791,067
Ensembl chrNW_004936470:7,789,541...7,791,039 		JBrowse link
G Gfus GDP-L-fucose synthase ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,523,240...8,527,451
Ensembl chrNW_004936470:8,523,562...8,527,546 		JBrowse link
G Gli4 GLI family zinc finger 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,767,797...8,772,590
Ensembl chrNW_004936470:8,767,408...8,772,529 		JBrowse link
G Gpaa1 glycosylphosphatidylinositol anchor attachment 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,092,758...8,096,277
Ensembl chrNW_004936470:8,092,855...8,096,074 		JBrowse link
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,798,095...8,800,176 JBrowse link
G Grina glutamate ionotropic receptor NMDA type subunit associated protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,180,468...8,183,694 JBrowse link
G Gsdmd gasdermin D ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,567,085...8,571,448
Ensembl chrNW_004936470:8,567,091...8,571,467 		JBrowse link
G Hgh1 HGH1 homolog ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,058,775...8,061,025
Ensembl chrNW_004936470:8,058,988...8,060,940 		JBrowse link
G Hsf1 heat shock transcription factor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,927,734...7,950,805
Ensembl chrNW_004936470:7,928,095...7,933,337 		JBrowse link
G Kifc2 kinesin family member C2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,791,137...7,800,221
Ensembl chrNW_004936470:7,790,593...7,798,459 		JBrowse link
G LOC101954680 cytochrome c1, heme protein, mitochondrial ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,082,791...8,085,197
Ensembl chrNW_004936470:8,082,791...8,085,185 		JBrowse link
G LOC101957084 plectin ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,194,124...8,252,139
Ensembl chrNW_004936470:8,216,205...8,250,978 		JBrowse link
G LOC101961294 epiplakin ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,308,135...8,317,259 JBrowse link
G Maf1 MAF1 homolog, negative regulator of RNA polymerase III ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,073,228...8,076,338
Ensembl chrNW_004936470:8,072,606...8,076,338 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,684,392...8,686,758
Ensembl chrNW_004936470:8,684,393...8,685,475 		JBrowse link
G Mapk15 mitogen-activated protein kinase 15 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,420,850...8,425,996
Ensembl chrNW_004936470:8,420,732...8,425,884 		JBrowse link
G Mroh1 maestro heat like repeat family member 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,977,338...8,049,414
Ensembl chrNW_004936470:7,977,525...8,039,096 		JBrowse link
G Mroh6 maestro heat like repeat family member 6 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,559,368...8,564,425 JBrowse link
G Naprt nicotinate phosphoribosyltransferase ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,554,739...8,557,889
Ensembl chrNW_004936470:8,554,641...8,557,919 		JBrowse link
G Nrbp2 nuclear receptor binding protein 2 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,327,326...8,333,573
Ensembl chrNW_004936470:8,327,258...8,332,200 		JBrowse link
G Oplah 5-oxoprolinase, ATP-hydrolysing ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,126,677...8,139,556
Ensembl chrNW_004936470:8,130,548...8,143,021 		JBrowse link
G Puf60 poly(U) binding splicing factor 60 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,336,852...8,348,335
Ensembl chrNW_004936470:8,336,390...8,348,609 		JBrowse link
G Pycr3 pyrroline-5-carboxylate reductase 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,527,896...8,531,788
Ensembl chrNW_004936470:8,528,103...8,531,569 		JBrowse link
G Rhpn1 rhophilin Rho GTPase binding protein 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,718,341...8,730,668
Ensembl chrNW_004936470:8,719,627...8,729,487 		JBrowse link
G Scrib scribble planar cell polarity protein ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,349,175...8,370,099
Ensembl chrNW_004936470:8,349,188...8,369,864 		JBrowse link
G Scrt1 scratch family transcriptional repressor 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,907,294...7,913,136
Ensembl chrNW_004936470:7,907,272...7,914,686 		JBrowse link
G Scx scleraxis bHLH transcription factor ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,966,096...7,972,379 JBrowse link
G Sharpin SHANK associated RH domain interactor ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,076,605...8,081,872
Ensembl chrNW_004936470:8,077,019...8,086,600 		JBrowse link
G Slc39a4 solute carrier family 39 member 4 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,836,612...7,842,262
Ensembl chrNW_004936470:7,838,030...7,842,262 		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 OMIM
ClinVar		 PMID:9536098 PMID:10797435 PMID:16199547 PMID:17576681 PMID:20301336 More... NCBI chrNW_004936470:7,886,169...7,888,592
Ensembl chrNW_004936470:7,881,890...7,888,592 		JBrowse link
G Spatc1 spermatogenesis and centriole associated 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,144,660...8,165,407 JBrowse link
G Tigd5 tigger transposable element derived 5 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,533,548...8,537,888 JBrowse link
G Tmem249 transmembrane protein 249 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,892,463...7,893,914 JBrowse link
G Tonsl tonsoku like, DNA repair protein ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,817,444...7,829,124 JBrowse link
G Vps28 VPS28 subunit of ESCRT-I ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,829,207...7,833,213
Ensembl chrNW_004936470:7,830,114...7,833,047 		JBrowse link
G Zc3h3 zinc finger CCCH-type containing 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,591,564...8,675,505
Ensembl chrNW_004936470:8,591,540...8,675,519 		JBrowse link
G Zfp41 ZFP41 zinc finger protein ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,775,403...8,784,882
Ensembl chrNW_004936470:8,775,423...8,784,786 		JBrowse link
G Zftraf1 zinc finger TRAF-type containing 1 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:7,799,304...7,813,420
Ensembl chrNW_004936470:7,799,298...7,815,737 		JBrowse link
G Znf623 zinc finger protein 623 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,469,827...8,477,937 JBrowse link
G Znf696 zinc finger protein 696 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2 ClinVar PMID:20301336 PMID:20447487 PMID:21109228 PMID:23289980 PMID:24253200 More... NCBI chrNW_004936470:8,753,476...8,759,552
Ensembl chrNW_004936470:8,752,601...8,756,568 		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 ClinVar Annotator: match by term: CAPOS syndrome | 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 OMIM
ClinVar		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... NCBI chrNW_004936706:476,473...494,659
Ensembl chrNW_004936706:477,107...495,525 		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 OMIM
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chrNW_004936650:2,056,921...2,112,487
Ensembl chrNW_004936650:2,056,921...2,112,767 		JBrowse link
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf2 E74 like ETS transcription factor 2 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome ClinVar PMID:29628936 NCBI chrNW_004936535:8,426,550...8,496,129
Ensembl chrNW_004936535:8,426,532...8,496,413 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome OMIM
ClinVar		 PMID:25741868 PMID:35883251 PMID:36478048 NCBI chrNW_004936482:6,938,138...7,009,144
Ensembl chrNW_004936482:6,938,681...6,993,705 		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: DEAFNESS WITH CHARCOT-MARIE-TOOTH DISEASE ClinVar PMID:12402337 PMID:15241803 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936762:389,655...398,035
Ensembl chrNW_004936762:389,669...395,898 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E OMIM
ClinVar		 PMID:7139106 PMID:7829101 PMID:8995589 PMID:9324088 PMID:9544841 More... NCBI chrNW_004936724:1,747,015...1,780,298
Ensembl chrNW_004936724:1,747,005...1,778,141 		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 OMIM
ClinVar		 PMID:8664899 PMID:8816708 PMID:9187667 PMID:9452091 PMID:10071056 More... NCBI chrNW_004936903:583,942...589,160
Ensembl chrNW_004936903:583,942...589,160 		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 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation OMIM
ClinVar		 PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chrNW_004936479:1,441,508...1,477,133
Ensembl chrNW_004936479:1,441,437...1,478,107 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease with deafness and mental retardation ClinVar PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chrNW_004936479:1,425,765...1,437,338
Ensembl chrNW_004936479:1,425,722...1,437,374 		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: Familial opticoacoustic nerve degeneration and polyneuropathy | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy OMIM
ClinVar		 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More... NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449 		JBrowse link
Chudley-Mccullough syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcc1 chloride channel CLIC like 1 ISO ClinVar Annotator: match by term: Chudley-McCullough syndrome | ClinVar Annotator: match by term: Deafness, autosomal recessive 82 | ClinVar Annotator: match by term: Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936704:518,040...539,526
Ensembl chrNW_004936704:517,707...539,585 		JBrowse link
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, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction OMIM
ClinVar		 PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 More... NCBI chrNW_004936704:462,984...516,929
Ensembl chrNW_004936704:462,971...516,829 		JBrowse link
cochlear disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1b interleukin 1 beta treatment ISO RGD PMID:29304389 RGD:13792837 NCBI chrNW_004936783:1,251,678...1,256,807
Ensembl chrNW_004936783:1,252,158...1,257,165 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:29304389 RGD:13792837 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chrNW_004936493:5,246,803...5,258,147
Ensembl chrNW_004936493:5,248,059...5,258,147 		JBrowse link
G Pcdh15 protocadherin related 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10978835 NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO RGD PMID:21215254 RGD:9999192 NCBI chrNW_004936492:13,436,136...13,486,173
Ensembl chrNW_004936492:13,435,848...13,486,169 		JBrowse link
G Syp synaptophysin ISO RGD PMID:12429223 RGD:11554034 NCBI chrNW_004936721:1,062,206...1,075,935
Ensembl chrNW_004936721:1,062,217...1,075,988 		JBrowse link
G Tnf tumor necrosis factor ISO RGD PMID:29304389 RGD:13792837 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
Combined Pituitary Hormone Deficiency, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lhx3 LIM homeobox 3 ISO ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome OMIM
ClinVar		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chrNW_004936669:1,561,433...1,573,074
Ensembl chrNW_004936669:1,564,102...1,573,047 		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 labyrinthine aplasia microtia and microdontia (LAMM) OMIM
ClinVar		 PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 More... NCBI chrNW_004936599:868,634...875,464
Ensembl chrNW_004936599:868,634...875,464 		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 OMIM
ClinVar		 PMID:16199547 PMID:16767101 PMID:16825429 PMID:17220209 PMID:17397048 More... NCBI chrNW_004936485:15,486,565...15,497,638
Ensembl chrNW_004936485:15,486,372...15,497,673 		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 OMIM
ClinVar		 PMID:6859126 PMID:8589691 PMID:8664898 PMID:8863157 PMID:9584079 More... NCBI chrNW_004936569:4,215,513...4,307,815
Ensembl chrNW_004936569:4,216,900...4,307,815 		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 chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		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:25741868 PMID:26539891 PMID:28492532 NCBI chrNW_004936470:43,281,905...43,952,523
Ensembl chrNW_004936470:43,281,469...43,951,805 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004936563:1,713,294...1,732,431 JBrowse link
deafness-dystonia-optic neuronopathy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chrNW_004936813:429,400...467,481
Ensembl chrNW_004936813:429,224...463,441 		JBrowse link
G Timm8a translocase of inner mitochondrial membrane 8A ISO ClinVar Annotator: match by term: Deafness dystonia syndrome OMIM
ClinVar		 PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... NCBI chrNW_004936813:425,613...428,722
Ensembl chrNW_004936813:425,613...428,702 		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:26077850 PMID:33500254 NCBI chrNW_004936529:2,774,651...2,777,960
Ensembl chrNW_004936529:2,774,543...2,779,579 		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: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dilated cardiomyopathy 1J OMIM
ClinVar		 PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 More... NCBI chrNW_004936560:1,325,521...1,466,216
Ensembl chrNW_004936560:1,337,842...1,462,285 		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: Renal tubular acidosis with progressive nerve deafness OMIM
ClinVar		 PMID:8651253 PMID:9536098 PMID:9916796 PMID:12414817 PMID:12566520 More... NCBI chrNW_004936491:15,112,422...15,138,716
Ensembl chrNW_004936491:15,112,321...15,139,525 		JBrowse link
Distal Renal Tubular Acidosis 3, Autosomal Recessive 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: RTA, distal, autosomal recessive | ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss OMIM
ClinVar		 PMID:9536098 PMID:10973252 PMID:12414817 PMID:16611712 PMID:17576681 More... NCBI chrNW_004936592:3,039,911...3,083,610
Ensembl chrNW_004936592:3,039,705...3,086,844 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar PMID:25741868 PMID:28492532 PMID:35738466 NCBI chrNW_004936541:718,577...727,420
Ensembl chrNW_004936541:718,577...729,876 		JBrowse link
G Tmem213 transmembrane protein 213 ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar NCBI chrNW_004936592:3,106,340...3,111,583
Ensembl chrNW_004936592:3,106,340...3,111,515 		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 ISO 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 OMIM
ClinVar		 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More... NCBI chrNW_004936711:1,027,531...1,113,796
Ensembl chrNW_004936711:1,032,935...1,106,847 		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 chrNW_004936618:1,694,886...1,792,586
Ensembl chrNW_004936618:1,689,646...1,792,802 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: Diaphragmatic hernia exomphalos absent corpus callosum hypertelorism myopia sensorineural deafness and proteinuria | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: LRP2-related condition OMIM
ClinVar		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935 		JBrowse link
DOORS syndrome 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, ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: DOORS syndrome | ClinVar Annotator: match by term: Digitorenocerebral syndrome OMIM
ClinVar		 PMID:3402014 PMID:16199547 PMID:20727515 PMID:22211675 PMID:23526554 More... NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201 		JBrowse link
EAST syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:489,357...514,235
Ensembl chrNW_004936740:488,154...514,308 		JBrowse link
G Igsf8 immunoglobulin superfamily member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:528,826...535,776
Ensembl chrNW_004936740:528,821...535,776 		JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: EAST syndrome | ClinVar Annotator: match by term: Epilepsy, ataxia, sensorineural deafness and tubulopathy | ClinVar Annotator: match by term: SeSAME-like syndrome | ClinVar Annotator: match by term: Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome OMIM
ClinVar		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... NCBI chrNW_004936740:555,948...589,219
Ensembl chrNW_004936740:555,998...586,353 		JBrowse link
G Kcnj9 potassium inwardly rectifying channel subfamily J member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chrNW_004936740:536,397...545,137
Ensembl chrNW_004936740:538,688...545,247 		JBrowse link
enlarged vestibular aqueduct 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 OMIM:600791 MouseDO NCBI chrNW_004936491:15,112,422...15,138,716
Ensembl chrNW_004936491:15,112,321...15,139,525 		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: Epidermolysis bullosa simplex 7, with nephropathy and deafness OMIM
ClinVar		 PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532 NCBI chrNW_004936888:592,325...597,116
Ensembl chrNW_004936888:592,849...597,107 		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:33497358 NCBI chrNW_004936490:14,887,062...14,910,038
Ensembl chrNW_004936490:14,887,043...14,909,956 		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 chrNW_004936471:16,738,204...16,815,561
Ensembl chrNW_004936471:16,738,230...16,815,943 		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 ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: Griscelli syndrome, cutaneous and neurologic type OMIM
ClinVar		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chrNW_004936471:14,105,832...14,257,386
Ensembl chrNW_004936471:14,111,841...14,254,246 		JBrowse link
Griscelli syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccpg1 cell cycle progression 1 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chrNW_004936471:16,856,731...16,898,219
Ensembl chrNW_004936471:16,854,171...16,898,269 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chrNW_004936471:16,911,575...16,960,521
Ensembl chrNW_004936471:16,912,155...16,960,468 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chrNW_004936471:16,898,378...16,902,346
Ensembl chrNW_004936471:16,898,324...16,902,677 		JBrowse link
G Pigb phosphatidylinositol glycan anchor biosynthesis class B ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:10835631 PMID:23160464 PMID:28492532 NCBI chrNW_004936471:16,828,910...16,857,140
Ensembl chrNW_004936471:16,829,159...16,861,536 		JBrowse link
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 | ClinVar Annotator: match by term: Partial albinism and immunodeficiency syndrome OMIM
ClinVar		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chrNW_004936471:16,738,204...16,815,561
Ensembl chrNW_004936471:16,738,230...16,815,943 		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: Hypomelanosis with no immunologic or neurologic manifestations OMIM
ClinVar		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chrNW_004936525:776,102...821,067
Ensembl chrNW_004936525:775,955...821,085 		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 chrNW_004936471:14,105,832...14,257,386
Ensembl chrNW_004936471:14,111,841...14,254,246 		JBrowse link
Hearing Loss, Cisplatin-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acyp2 acylphosphatase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25665007 NCBI chrNW_004936491:615,515...770,636
Ensembl chrNW_004936491:615,666...771,199 		JBrowse link
G Camk2a calcium/calmodulin dependent protein kinase II alpha treatment ISO RGD PMID:23558232 RGD:9685025 NCBI chrNW_004936504:4,636,863...4,700,887
Ensembl chrNW_004936504:4,638,176...4,700,984 		JBrowse link
G Camk2b calcium/calmodulin dependent protein kinase II beta treatment ISO RGD PMID:23558232 RGD:9685025 NCBI chrNW_004936478:19,183,493...19,278,457
Ensembl chrNW_004936478:19,180,726...19,278,920 		JBrowse link
G Cat catalase ISO protein:decreased expression:cochlear: RGD PMID:10220857 RGD:9197256 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898482 NCBI chrNW_004936619:3,847,059...3,883,866
Ensembl chrNW_004936619:3,876,299...3,882,747 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO RGD PMID:19666099 RGD:10045579 NCBI chrNW_004936536:6,730,070...6,893,818
Ensembl chrNW_004936536:6,730,062...6,894,303 		JBrowse link
G Tpmt thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898482 NCBI chrNW_004936552:3,899,445...3,917,774
Ensembl chrNW_004936552:3,897,375...3,917,772 		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 ISO RGD PMID:17275194 RGD:8655559 NCBI chrNW_004936470:9,185,145...9,188,260
Ensembl chrNW_004936470:9,185,145...9,186,320 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO protein:increased expression:cochlea: RGD PMID:17275194 PMID:19925854 PMID:22723694 RGD:8636263 RGD:8655559 RGD:8655575 NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014 		JBrowse link
G Calb1 calbindin 1 ISO RGD PMID:22428005 RGD:401940127 NCBI chrNW_004936544:3,858,344...3,881,985
Ensembl chrNW_004936544:3,858,344...3,882,106 		JBrowse link
G Cat catalase susceptibility
treatment
severity		 ISO DNA:SNPs,haplotype:: RGD PMID:17567781 PMID:18212468 PMID:23179931 RGD:9068906 RGD:9068923 RGD:9190810 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A ISO RGD PMID:21187137 RGD:8661793 NCBI chrNW_004936476:22,717,308...22,725,127
Ensembl chrNW_004936476:22,717,260...22,725,182 		JBrowse link
G Cfi complement factor I ISO mRNA:increased expression:spiral organ of cochlea, sensory epithelium RGD PMID:23727008 RGD:8662317 NCBI chrNW_004936563:960,883...998,136
Ensembl chrNW_004936563:960,883...988,634 		JBrowse link
G Cntn1 contactin 1 ISO RGD PMID:22044737 RGD:5685697 NCBI chrNW_004936607:8,430...291,964
Ensembl chrNW_004936607:23,150...292,013 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO RGD PMID:22428005 RGD:401940127 NCBI chrNW_004936515:1,806,721...1,859,227
Ensembl chrNW_004936515:1,805,239...1,859,600 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO RGD PMID:22428005 RGD:401940127 NCBI chrNW_004936509:1,160,559...1,201,037
Ensembl chrNW_004936509:1,161,094...1,201,576 		JBrowse link
G Gap43 growth associated protein 43 ISO RGD PMID:22428005 RGD:401940127 NCBI chrNW_004936536:2,995,654...3,091,079 JBrowse link
G Gjb2 gap junction protein beta 2 ISO protein:increased expression:cochlea: RGD PMID:15224875 RGD:7349367 NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21787680 RGD:8695948 NCBI chrNW_004936495:5,770,988...5,816,157
Ensembl chrNW_004936495:5,770,669...5,816,157 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:19213042 RGD:8547577 NCBI chrNW_004936659:616,570...627,172
Ensembl chrNW_004936659:616,752...627,174 		JBrowse link
G Igf1 insulin like growth factor 1 ISO RGD PMID:16585854 RGD:8549455 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:16429448 RGD:7829818 NCBI chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO ClinVar Annotator: match by term: Noise induced hearing loss ClinVar PMID:7828904 PMID:9445165 PMID:12402336 PMID:14661677 PMID:14760488 More... NCBI chrNW_004936500:7,998,464...8,007,848
Ensembl chrNW_004936500:8,007,291...8,007,680 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823764 NCBI chrNW_004936794:707,122...994,206
Ensembl chrNW_004936794:707,119...994,778 		JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823764 NCBI chrNW_004936474:22,444,359...22,496,097
Ensembl chrNW_004936474:22,444,358...22,496,105 		JBrowse link
G LOC101955831 heat shock 70 kDa protein 1 ISO DNA:SNP, haplotype: :rs1061581 (human) RGD PMID:18813331 RGD:8662841 NCBI chrNW_004936727:1,718,952...1,721,691 JBrowse link
G LOC101956126 heat shock 70 kDa protein 1 ISO DNA:SNP, haplotype: :rs1043618 (human) RGD PMID:17009596 RGD:8662466 NCBI chrNW_004936727:1,732,323...1,735,128 JBrowse link
G LOC101956412 heat shock 70 kDa protein 1-like ISO DNA:SNP, haplotype: :rs2227956 (human) RGD PMID:17009596 RGD:8662466 NCBI chrNW_004936727:1,735,880...1,745,231
Ensembl chrNW_004936727:1,736,243...1,745,231 		JBrowse link
G LOC101969963 cadherin-23 no_association ISO DNA:SNPs: :rs1227049, rs3802711 (human)
DNA:SNPs: :rs1227049, rs1227051 (human)		 RGD PMID:16598924 RGD:8662283 NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO RGD PMID:23100416 RGD:9685340 NCBI chrNW_004936551:5,388,456...5,395,071
Ensembl chrNW_004936551:5,388,459...5,395,071 		JBrowse link
G Nob1 NIN1 (RPN12) binding protein 1 homolog ISO mRNA:increased expression:cochlea RGD PMID:21219967 RGD:10766449 NCBI chrNW_004936475:19,794,199...19,808,142
Ensembl chrNW_004936475:19,796,296...19,808,152 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:exon:p.S326C (rs1052133) (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:24599382 RGD:8657374 NCBI chrNW_004936602:3,411,106...3,418,826
Ensembl chrNW_004936602:3,413,282...3,418,831 		JBrowse link
G Pon2 paraoxonase 2 susceptibility ISO DNA:SNPs: :multiple RGD PMID:23327886 RGD:8661240 NCBI chrNW_004936585:4,862,378...4,894,061
Ensembl chrNW_004936585:4,862,364...4,895,323 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:25108045 RGD:11100045 NCBI chrNW_004936469:43,841,989...43,850,322
Ensembl chrNW_004936469:43,841,989...43,850,304 		JBrowse link
G Ptger4 prostaglandin E receptor 4 resistance ISO RGD PMID:22198478 RGD:6483524 NCBI chrNW_004936518:1,903,636...1,916,746
Ensembl chrNW_004936518:1,903,725...1,916,746 		JBrowse link
G Sell selectin L ISO RGD PMID:22044737 RGD:5685697 NCBI chrNW_004936481:17,022,421...17,032,105
Ensembl chrNW_004936481:17,022,580...17,032,124 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO mRNA, protein:increased expression:cochlea (mouse) RGD PMID:24376553 RGD:9585684 NCBI chrNW_004936479:20,104,625...20,145,392
Ensembl chrNW_004936479:20,104,595...20,144,601 		JBrowse link
G Sod1 superoxide dismutase 1 susceptibility
severity		 ISO DNA:snps:introns:IVS2+193T>G (rs10432782), IVS3-251A>G (rs2070424) (human)
DNA:snps, haplotypes:introns:multiple (human)		 RGD PMID:10436316 PMID:19895330 PMID:22931816 RGD:8655611 RGD:8655851 RGD:8655966 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867 		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 chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:21840347 RGD:11554196 NCBI chrNW_004936561:3,826,802...3,844,406
Ensembl chrNW_004936561:3,825,787...3,844,483 		JBrowse link
G Taok1 TAO kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chrNW_004936538:5,531,639...5,668,119
Ensembl chrNW_004936538:5,531,633...5,659,239 		JBrowse link
G Tnf tumor necrosis factor ISO mRNA:increased expression:cochlea: RGD PMID:19051071 RGD:7394705 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		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 Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:10447258 PMID:11389485 More... NCBI chrNW_004936803:1,348,238...1,361,566 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 OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chrNW_004936803:1,291,867...1,340,123
Ensembl chrNW_004936803:1,291,702...1,340,178 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chrNW_004936807:1,035,733...1,046,225
Ensembl chrNW_004936807:1,035,643...1,046,316 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		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 OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
high myopia-sensorineural deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slitrk6 SLIT and NTRK like family member 6 ISO ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome OMIM
ClinVar		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chrNW_004936866:412,719...419,381
Ensembl chrNW_004936866:412,818...419,381 		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 chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		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: Faisalabad histiocytosis | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome OMIM
ClinVar		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chrNW_004936521:7,417,914...7,452,695
Ensembl chrNW_004936521:7,418,184...7,452,695 		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:16763960 PMID:17576681 PMID:17661815 PMID:18073582 More... NCBI chrNW_004936496:12,381,225...12,505,121
Ensembl chrNW_004936496:12,381,126...12,505,150 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:29300383 NCBI chrNW_004936492:696,982...778,132
Ensembl chrNW_004936492:696,960...778,138 		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 chrNW_004936470:8,336,852...8,348,335
Ensembl chrNW_004936470:8,336,390...8,348,609 		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 chrNW_004936734:1,850,709...2,085,541
Ensembl chrNW_004936734:1,850,673...2,084,891 		JBrowse link
hypoparathyroidism-deafness-renal disease syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acbd7 acyl-CoA binding domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936574:5,638,054...5,644,749
Ensembl chrNW_004936574:5,633,761...5,644,772 		JBrowse link
G Akr1e2 aldo-keto reductase family 1 member E2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:9,472,920...9,490,624
Ensembl chrNW_004936484:9,474,458...9,490,676 		JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,690,183...8,700,705
Ensembl chrNW_004936484:8,690,090...8,701,499 		JBrowse link
G Arl5b ADP ribosylation factor like GTPase 5B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:8,877,277...8,903,772
Ensembl chrNW_004936520:8,877,299...8,903,725 		JBrowse link
G Asb13 ankyrin repeat and SOCS box containing 13 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,855,456...8,873,940
Ensembl chrNW_004936484:8,855,399...8,875,018 		JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:7,016,049...7,031,060 JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:237,498...318,480 JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:10,656,437...10,665,067
Ensembl chrNW_004936520:10,656,432...10,666,413 		JBrowse link
G Cacnb2 calcium voltage-gated channel auxiliary subunit beta 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:8,951,994...9,164,039
Ensembl chrNW_004936520:8,955,164...9,295,331 		JBrowse link
G Calml5 calmodulin like 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,999,323...9,000,224 JBrowse link
G Camk1d calcium/calmodulin dependent protein kinase ID ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:2,626,909...2,768,304
Ensembl chrNW_004936484:2,632,107...3,023,869 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:2,455,819...2,567,467
Ensembl chrNW_004936484:2,455,819...2,568,682 		JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,099,221...3,149,005
Ensembl chrNW_004936484:3,099,011...3,149,514 		JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,386,249...1,406,295
Ensembl chrNW_004936613:1,387,568...1,406,370 		JBrowse link
G Celf2 CUGBP Elav-like family member 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,904,726...4,401,560
Ensembl chrNW_004936484:3,904,720...4,399,567 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:10,140,784...10,410,082
Ensembl chrNW_004936520:10,140,784...10,409,851 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,467,797...1,501,107
Ensembl chrNW_004936613:1,470,365...1,501,138 		JBrowse link
G Dhtkd1 dehydrogenase E1 and transketolase domain containing 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,207,650...3,251,661
Ensembl chrNW_004936484:3,208,198...3,251,896 		JBrowse link
G Echdc3 enoyl-CoA hydratase domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,508,235...3,530,593
Ensembl chrNW_004936484:3,507,881...3,530,652 		JBrowse link
G Fam107b family with sequence similarity 107 member B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,155,094...1,354,026 JBrowse link
G Fam171a1 family with sequence similarity 171 member A1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936574:5,742,637...5,795,351
Ensembl chrNW_004936574:5,743,722...5,799,197 		JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,635,752...8,689,949
Ensembl chrNW_004936484:8,635,753...8,689,971 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:414,881...710,210
Ensembl chrNW_004936613:414,473...842,905 		JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome OMIM
ClinVar		 PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chrNW_004936484:6,780,692...6,800,883
Ensembl chrNW_004936484:6,780,692...6,800,966 		JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,748,050...8,775,234
Ensembl chrNW_004936484:8,747,984...8,779,236 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:9,716,178...9,725,949
Ensembl chrNW_004936520:9,716,224...9,727,841 		JBrowse link
G Hspa14 heat shock protein family A (Hsp70) member 14 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,406,412...1,436,729
Ensembl chrNW_004936613:1,406,406...1,439,885 		JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,590,945...8,623,478
Ensembl chrNW_004936484:8,590,482...8,623,469 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,514,333...8,555,392
Ensembl chrNW_004936484:8,544,062...8,555,332 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936574:5,985,181...6,155,067
Ensembl chrNW_004936574:5,984,939...6,155,164 		JBrowse link
G Itih2 inter-alpha-trypsin inhibitor heavy chain 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:7,064,836...7,101,872
Ensembl chrNW_004936484:7,065,406...7,101,855 		JBrowse link
G Itih5 inter-alpha-trypsin inhibitor heavy chain 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:7,123,022...7,207,166
Ensembl chrNW_004936484:7,122,921...7,203,002 		JBrowse link
G Kin Kin17 DNA and RNA binding protein ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:7,031,160...7,058,696
Ensembl chrNW_004936484:7,030,862...7,060,125 		JBrowse link
G LOC101955357 uncharacterized LOC101955357 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936862:405,205...413,920
Ensembl chrNW_004936862:404,476...413,561 		JBrowse link
G LOC101976513 calmodulin-like protein 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,976,512...8,977,792
Ensembl chrNW_004936484:8,977,252...8,977,701 		JBrowse link
G Mcm10 minichromosome maintenance 10 replication initiation factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004937104:132,692...160,965 JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,508,975...1,513,769
Ensembl chrNW_004936613:1,508,999...1,513,501 		JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936574:6,205,419...6,296,385
Ensembl chrNW_004936574:6,205,442...6,296,345 		JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:9,027,515...9,056,571
Ensembl chrNW_004936484:9,027,515...9,056,600 		JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936574:5,653,153...5,698,027
Ensembl chrNW_004936574:5,651,758...5,698,033 		JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:8,909,509...8,950,960
Ensembl chrNW_004936520:8,909,480...8,950,925 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,148,955...3,169,527
Ensembl chrNW_004936484:3,156,586...3,169,146 		JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,541,001...1,570,882 JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004937104:73,340...113,179 JBrowse link
G Pfkfb3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,356,523...8,434,529
Ensembl chrNW_004936484:8,356,487...8,434,925 		JBrowse link
G Prkcq protein kinase C theta ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,048,239...8,166,058
Ensembl chrNW_004936484:8,048,132...8,167,636 		JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,423,530...3,435,505
Ensembl chrNW_004936484:3,420,633...3,435,491 		JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:364,492...401,402
Ensembl chrNW_004936613:364,462...401,402 		JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:10,666,443...10,727,562
Ensembl chrNW_004936520:10,666,439...10,727,591 		JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,457,469...8,478,030
Ensembl chrNW_004936484:8,457,462...8,478,309 		JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936574:5,648,696...5,653,030
Ensembl chrNW_004936574:5,651,758...5,657,119 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:10,419,405...10,602,820
Ensembl chrNW_004936520:10,419,395...10,604,762 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,171,444...3,204,726
Ensembl chrNW_004936484:3,168,803...3,204,736 		JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:108,331...134,727
Ensembl chrNW_004936613:107,821...134,733 		JBrowse link
G Sfmbt2 Scm like with four mbt domains 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:7,344,144...7,558,341 JBrowse link
G Slc39a12 solute carrier family 39 member 12 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:9,380,723...9,444,146
Ensembl chrNW_004936520:9,380,650...9,444,152 		JBrowse link
G St8sia6 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:9,869,166...9,990,205
Ensembl chrNW_004936520:9,869,195...9,988,541 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:9,627,674...9,689,658
Ensembl chrNW_004936520:9,624,628...9,689,686 		JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936613:1,443,663...1,467,776
Ensembl chrNW_004936613:1,443,629...1,467,229 		JBrowse link
G Taf3 TATA-box binding protein associated factor 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:6,834,935...7,002,167
Ensembl chrNW_004936484:6,834,103...7,002,198 		JBrowse link
G Tasor2 transcription activation suppressor family member 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:8,776,232...8,842,265
Ensembl chrNW_004936484:8,777,440...8,815,985 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:10,104,050...10,122,057 JBrowse link
G Tubal3 tubulin alpha like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:9,066,097...9,073,049
Ensembl chrNW_004936484:9,062,478...9,072,988 		JBrowse link
G Upf2 UPF2 regulator of nonsense mediated mRNA decay ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,266,196...3,381,511
Ensembl chrNW_004936484:3,266,190...3,381,526 		JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936484:3,635,966...3,802,906
Ensembl chrNW_004936484:3,635,960...3,800,934 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chrNW_004936520:10,051,692...10,059,324
Ensembl chrNW_004936520:10,052,012...10,059,182 		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 | ClinVar Annotator: match by term: Insulin-like growth factor I deficiency OMIM
ClinVar		 PMID:8857020 PMID:15769976 PMID:18317720 PMID:19240240 PMID:21915365 More... NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		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 ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness OMIM
ClinVar		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 More... NCBI chrNW_004936471:6,171,655...6,313,853
Ensembl chrNW_004936471:6,171,593...6,313,937 		JBrowse link
Kabuki syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm6a lysine demethylase 6A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004936502:10,980,303...11,196,711
Ensembl chrNW_004936502:10,980,118...11,196,163 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Kabuki syndrome | ClinVar Annotator: match by term: Niikawa-Kuroki syndrome ClinVar PMID:2071175 PMID:3067577 PMID:3913813 PMID:9285441 PMID:9536098 More... NCBI chrNW_004936512:6,819,240...6,860,852
Ensembl chrNW_004936512:6,822,057...6,854,451 		JBrowse link
Kabuki Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936530:4,948,130...4,957,306 JBrowse link
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chrNW_004936485:19,547,836...19,570,716 JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chrNW_004936809:827,008...853,689
Ensembl chrNW_004936809:827,031...853,644 		JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:11261516 PMID:19370762 PMID:23076834 PMID:23913813 PMID:24728327 More... NCBI chrNW_004936502:10,980,303...11,196,711
Ensembl chrNW_004936502:10,980,118...11,196,163 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chrNW_004936542:3,480,071...3,566,823
Ensembl chrNW_004936542:3,391,774...3,562,147 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chrNW_004936570:583,616...605,846
Ensembl chrNW_004936570:583,616...605,603 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: KMT2D-related condition | ClinVar Annotator: match by term: Kabuki syndrome 1 OMIM
ClinVar		 PMID:2071175 PMID:3913813 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chrNW_004936512:6,819,240...6,860,852
Ensembl chrNW_004936512:6,822,057...6,854,451 		JBrowse link
G LOC101958636 pentatricopeptide repeat-containing protein 1, mitochondrial ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:20818383 PMID:25741868 NCBI chrNW_004936750:1,684,326...1,699,333
Ensembl chrNW_004936750:1,683,027...1,699,347 		JBrowse link
G Zbtb24 zinc finger and BTB domain containing 24 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chrNW_004936564:5,588,360...5,606,140
Ensembl chrNW_004936564:5,587,560...5,606,189 		JBrowse link
Kabuki Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst7 carbohydrate sulfotransferase 7 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004936502:12,426,821...12,446,127
Ensembl chrNW_004936502:12,426,851...12,445,741 		JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004936502:11,243,167...11,284,186
Ensembl chrNW_004936502:11,247,775...11,284,186 		JBrowse link
G Dusp21 dual specificity phosphatase 21 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chrNW_004936502:10,959,019...10,959,588 JBrowse link
G Efhc2 EF-hand domain containing 2 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chrNW_004936502:10,279,094...10,456,994
Ensembl chrNW_004936502:10,278,816...10,457,086 		JBrowse link
G Fundc1 FUN14 domain containing 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chrNW_004936502:10,643,172...10,657,118
Ensembl chrNW_004936502:10,643,071...10,657,134 		JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: Kabuki Syndrome - KDM6A | ClinVar Annotator: match by term: Kabuki syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:11261516 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chrNW_004936502:10,980,303...11,196,711
Ensembl chrNW_004936502:10,980,118...11,196,163 		JBrowse link
G Krbox4 KRAB box domain containing 4 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004936502:12,335,159...12,349,544 JBrowse link
G Maoa monoamine oxidase A ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chrNW_004936502:9,816,443...9,888,002
Ensembl chrNW_004936502:9,815,319...9,888,026 		JBrowse link
G Maob monoamine oxidase B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chrNW_004936502:9,907,181...10,014,756
Ensembl chrNW_004936502:9,907,180...10,014,773 		JBrowse link
G Ndp norrin cystine knot growth factor NDP ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:22197486 PMID:23076834 PMID:23354975 PMID:23913813 PMID:25972376 More... NCBI chrNW_004936502:10,080,169...10,105,155
Ensembl chrNW_004936502:10,080,145...10,105,328 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004936502:12,656,187...12,701,689
Ensembl chrNW_004936502:12,656,043...12,701,742 		JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004936502:12,450,702...12,587,196
Ensembl chrNW_004936502:12,452,720...12,587,192 		JBrowse link
G Znf674 zinc finger protein 674 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chrNW_004936502:12,370,517...12,372,855 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 CUNH12orf43 chromosome unknown C12orf43 homolog ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chrNW_004936668:51,572...61,873
Ensembl chrNW_004936668:51,531...61,403 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chrNW_004936668:62,103...81,549
Ensembl chrNW_004936668:67,535...81,505 		JBrowse link
G Vps33b VPS33B late endosome and lysosome associated ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28017832 NCBI chrNW_004936483:16,007,448...16,031,353
Ensembl chrNW_004936483:16,007,465...16,032,392 		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:25741909 PMID:25741913 PMID:28492532 PMID:30740830 More... NCBI chrNW_004936504:1,378,812...1,465,463
Ensembl chrNW_004936504:1,378,810...1,465,623 		JBrowse link
labyrinthitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnf tumor necrosis factor ISO protein:increased expression: cochleas, endolymphatic sac: RGD PMID:12943369 RGD:7394706 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
Marshall 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 susceptibility ISO ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome ClinVar
OMIM		 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More... NCBI chrNW_004936730:466,912...680,823
Ensembl chrNW_004936730:468,039...680,753 		JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936504:12,226,771...12,244,959
Ensembl chrNW_004936504:12,229,995...12,242,487 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936504:12,200,395...12,217,454
Ensembl chrNW_004936504:12,200,388...12,217,518 		JBrowse link
G Rnpc3 RNA binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 NCBI chrNW_004936730:1,063,719...1,086,983
Ensembl chrNW_004936730:1,063,516...1,085,333 		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 chrNW_004936730:466,912...680,823
Ensembl chrNW_004936730:468,039...680,753 		JBrowse link
Meniere's disease 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: Meniere disease ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Aqp4 aquaporin 4 susceptibility ISO DNA:conservative mutation:cds:c.105G>C(human)
protein:decreased expression:macula of utricle of membranous labyrinth:		 RGD PMID:20461409 PMID:21063116 RGD:8696022 RGD:8696023 NCBI chrNW_004936550:5,931,201...5,943,999
Ensembl chrNW_004936550:5,931,194...5,941,354 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G Dtna dystrobrevin alpha ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 PMID:25741868 PMID:28492532 NCBI chrNW_004936517:10,105,767...10,357,672
Ensembl chrNW_004936517:10,105,760...10,420,233 		JBrowse link
G Fam136a family with sequence similarity 136 member A ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 NCBI chrNW_004936491:14,451,858...14,456,710
Ensembl chrNW_004936491:14,451,626...14,457,301 		JBrowse link
G LOC101956126 heat shock 70 kDa protein 1 susceptibility ISO DNA:SNP: :190G>C(human) RGD PMID:19241595 RGD:7257654 NCBI chrNW_004936727:1,732,323...1,735,128 JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G LOC101975324 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human) RGD PMID:23484733 RGD:7387223 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:15221449 PMID:16470552 PMID:20146813 PMID:21487335 PMID:22681893 More... NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936528:1,473,842...1,549,586
Ensembl chrNW_004936528:1,475,128...1,548,849 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Ptpn22 protein tyrosine phosphatase non-receptor type 22 ISO DNA:missense mutation:cds:p.R620W (c.1858C>T) (rs2476601) (human) RGD PMID:19780033 RGD:7829747 NCBI chrNW_004936690:2,180,804...2,232,869
Ensembl chrNW_004936690:2,181,047...2,232,958 		JBrowse link
G Shroom2 shroom family member 2 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 NCBI chrNW_004936644:42,620...127,481
Ensembl chrNW_004936644:42,581...127,531 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:12136232 PMID:16963483 PMID:24033266 PMID:24875298 PMID:25741868 More... NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		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 with lactic acidosis OMIM
ClinVar		 PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More... NCBI chrNW_004936653:1,470,314...1,499,813
Ensembl chrNW_004936653:1,470,299...1,499,900 		JBrowse link
Mondini Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a4 solute carrier family 26 member 4 ISO DNA:mutations:multiple (human) RGD PMID:11317356 RGD:7421508 NCBI chrNW_004936479:16,435,779...16,483,139
Ensembl chrNW_004936479:16,435,739...16,481,332 		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 chrNW_004936484:17,104,437...17,115,897
Ensembl chrNW_004936484:17,104,750...17,110,059 		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 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
ClinVar		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262 		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 chrNW_004936530:1,500,415...1,506,187
Ensembl chrNW_004936530:1,500,437...1,506,071 		JBrowse link
Nonsyndromic Sensorineural Hearing Loss 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: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chrNW_004936494:5,617,201...5,633,500
Ensembl chrNW_004936494:5,617,016...5,633,083 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004936476:25,663,563...25,692,315
Ensembl chrNW_004936476:25,663,755...25,691,344 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chrNW_004936560:1,325,521...1,466,216
Ensembl chrNW_004936560:1,337,842...1,462,285 		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 chrNW_004936658:3,920,043...3,932,987
Ensembl chrNW_004936658:3,920,043...3,932,987 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:10376574 PMID:11102979 PMID:11216656 PMID:11313763 PMID:11493200 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Gjb3 gap junction protein beta 3 no_association ISO DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant		 RGD
ClinVar		 PMID:15276679 RGD:12050154 NCBI chrNW_004936474:17,427,255...17,431,368
Ensembl chrNW_004936474:17,429,926...17,430,729 		JBrowse link
G Gjb6 gap junction protein beta 6 no_association ISO DNA:del:cds:del(GJB6-D13S1830)
DNA:mutations:multiple:
DNA:del::GJB6-D13S1854(human)		 RGD PMID:20022641 PMID:21227513 PMID:22186156 PMID:23554706 PMID:23668481 RGD:7364803 RGD:7364812 RGD:7364817 RGD:7364891 RGD:7364892 NCBI chrNW_004936720:1,485,895...1,494,673
Ensembl chrNW_004936720:1,493,733...1,494,518 		JBrowse link
G LOC101969963 cadherin-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 chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G LOC101975324 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936889:121,724...184,374
Ensembl chrNW_004936889:122,853...183,928 		JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262 		JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chrNW_004936646:1,238,630...1,258,491
Ensembl chrNW_004936646:1,238,865...1,258,040 		JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chrNW_004936484:1,509,248...1,723,717
Ensembl chrNW_004936484:1,509,235...1,723,554 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936788:1,125,332...1,264,372
Ensembl chrNW_004936788:1,174,544...1,262,746 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		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 chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) RGD PMID:23084290 RGD:11554169 NCBI chrNW_004936491:1,989,429...2,032,430
Ensembl chrNW_004936491:1,987,097...2,032,430 		JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:28492532 NCBI chrNW_004936504:8,348,460...8,351,246
Ensembl chrNW_004936504:8,348,398...8,351,804 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chrNW_004936495:4,839,496...4,842,906
Ensembl chrNW_004936495:4,838,051...4,842,994 		JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chrNW_004936492:13,436,136...13,486,173
Ensembl chrNW_004936492:13,435,848...13,486,169 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO DNA:snp:intron:IVS2-2A>G (human) RGD PMID:23554706 RGD:7364803 NCBI chrNW_004936479:20,104,625...20,145,392
Ensembl chrNW_004936479:20,104,595...20,144,601 		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 chrNW_004936503:5,414,330...5,539,895
Ensembl chrNW_004936503:5,497,832...5,539,090 		JBrowse link
G Tmc1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:21252500 PMID:23208854 PMID:24033266 More... NCBI chrNW_004936503:8,669,465...8,826,340
Ensembl chrNW_004936503:8,719,540...8,825,795 		JBrowse link
G Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 susceptibility ISO DNA:SNP:exon:rs35725509(human) RGD PMID:27311106 RGD:11252147 NCBI chrNW_004936507:603,222...980,229
Ensembl chrNW_004936507:603,868...980,230 		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 chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		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 chrNW_004936477:18,339,915...18,364,973
Ensembl chrNW_004936477:18,339,827...18,364,998 		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 ISO OMIM:103470 MouseDO NCBI chrNW_004936603:1,682,411...1,858,295
Ensembl chrNW_004936603:1,682,513...1,858,173 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chrNW_004936569:4,215,513...4,307,815
Ensembl chrNW_004936569:4,216,900...4,307,815 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:7704033 More... NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253 		JBrowse link
otosclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen no_association ISO DNA:missense mutation:cds:p.M235T (human)
DNA:missense mutation:cds:p.M235T (rs699) (human)		 RGD PMID:18491423 PMID:19503013 RGD:8548860 RGD:8548871 NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261 		JBrowse link
G Bmp2 bone morphogenetic protein 2 susceptibility ISO DNA:SNP:3'UTR:rs3178250(human) RGD PMID:18021008 RGD:8698669 NCBI chrNW_004936485:12,428,765...12,439,570
Ensembl chrNW_004936485:12,428,710...12,439,454 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:missense mutation:cds:p.A152V,rs17563(human)
DNA:polymorphism:cds:p.N150K(human)		 RGD PMID:18021008 PMID:24492129 RGD:8698669 RGD:8699491 NCBI chrNW_004936697:1,054,237...1,061,468
Ensembl chrNW_004936697:1,056,636...1,061,468 		JBrowse link
G Col1a1 collagen type I alpha 1 chain susceptibility ISO DNA:snps, haplotypes:multiple (human) RGD PMID:17489845 RGD:8552658 NCBI chrNW_004936490:11,448,552...11,465,836
Ensembl chrNW_004936490:11,448,654...11,464,444 		JBrowse link
G Vdr vitamin D receptor no_association ISO DNA:SNPs, silent mutation:intron, cds: (rs731236, rs1544410, rs7975232) (human)
DNA:missense mutation:cds: (rs2228570) (human)		 RGD PMID:23639864 RGD:8157627 NCBI chrNW_004936512:5,741,836...5,800,999
Ensembl chrNW_004936512:5,740,748...5,801,109 		JBrowse link
otosclerosis 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxl1 forkhead box L1 ISO ClinVar Annotator: match by term: Otosclerosis 11 OMIM
ClinVar		 PMID:34633540 NCBI chrNW_004936641:2,226,489...2,227,613
Ensembl chrNW_004936641:2,226,550...2,227,578 		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 ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive OMIM
ClinVar		 PMID:7859284 PMID:9188673 PMID:9536098 PMID:10677296 PMID:15558753 More... NCBI chrNW_004936476:25,663,563...25,692,315
Ensembl chrNW_004936476:25,663,755...25,691,344 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive ClinVar PMID:25326635 PMID:25741868 NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		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 chrNW_004936682:1,854,637...1,889,426
Ensembl chrNW_004936682:1,853,594...1,889,488 		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 OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		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 1 with sensorineural hearing loss | ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chrNW_004936612:2,357,336...2,369,204 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 chrNW_004936694:1,155,252...1,156,007
Ensembl chrNW_004936694:1,155,259...1,155,912 		JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chrNW_004936504:12,548,452...12,645,236
Ensembl chrNW_004936504:12,548,452...12,643,399 		JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chrNW_004936609:4,667,425...4,694,259
Ensembl chrNW_004936609:4,667,425...4,669,746 		JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More... NCBI chrNW_004936740:555,948...589,219
Ensembl chrNW_004936740:555,998...586,353 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chrNW_004936493:5,916,113...5,999,867
Ensembl chrNW_004936493:5,916,113...5,999,784 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO 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 OMIM
ClinVar		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... NCBI chrNW_004936479:16,435,779...16,483,139
Ensembl chrNW_004936479:16,435,739...16,481,332 		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 chrNW_004936588:3,723,188...3,728,037
Ensembl chrNW_004936588:3,722,941...3,731,439 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004936471:10,747,030...10,969,223
Ensembl chrNW_004936471:10,746,996...10,969,231 		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 chrNW_004936508:3,601,205...3,754,234
Ensembl chrNW_004936508:3,601,315...3,753,706 		JBrowse link
G Hsd17b4 hydroxysteroid 17-beta dehydrogenase 4 ISO ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1 OMIM
ClinVar		 PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chrNW_004936715:2,357,215...2,446,601
Ensembl chrNW_004936715:2,357,274...2,446,271 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 NCBI chrNW_004936494:9,282,894...9,414,350 JBrowse link
Presbycusis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 severity ISO RGD PMID:19070604 RGD:8695953 NCBI chrNW_004936550:5,931,201...5,943,999
Ensembl chrNW_004936550:5,931,194...5,941,354 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:decreased expression:cochlea RGD PMID:17168119 RGD:8655551 NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO mRNA, protein:decreased expression:cochlea RGD PMID:23470431 RGD:10045570 NCBI chrNW_004936473:4,164,633...4,479,866
Ensembl chrNW_004936473:4,037,533...4,478,073 		JBrowse link
G Cat catalase ISO RGD PMID:11678164 RGD:8655636 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		JBrowse link
G Edn1 endothelin 1 susceptibility ISO DNA:missense mutation:cds:p.L198N (rs5370) (human) RGD PMID:19358249 RGD:8661662 NCBI chrNW_004936534:885,489...892,292
Ensembl chrNW_004936534:885,287...891,772 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO RGD PMID:24587312 RGD:10402574 NCBI chrNW_004936543:2,110,351...2,111,896
Ensembl chrNW_004936543:2,110,304...2,112,186 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO RGD PMID:22652460 RGD:8662870 NCBI chrNW_004936713:679,680...716,801
Ensembl chrNW_004936713:701,155...716,650 		JBrowse link
G LOC101969963 cadherin-23 no_association ISO DNA:SNP:intron:g.72996763C>T (rs7087735) (human) RGD PMID:12910270 PMID:22581638 RGD:737781 RGD:8662287 NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO RGD PMID:21664445 RGD:8694161 NCBI chrNW_004936483:15,178,947...15,196,277
Ensembl chrNW_004936483:15,179,342...15,195,258 		JBrowse link
G Sirt3 sirtuin 3 ISO protein:decreased expression:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chrNW_004936888:63,131...78,536
Ensembl chrNW_004936888:63,546...77,950 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO protein:altered expression:cochlear outer hair cell (rat) RGD PMID:19111601 RGD:9585690 NCBI chrNW_004936479:20,104,625...20,145,392
Ensembl chrNW_004936479:20,104,595...20,144,601 		JBrowse link
G Sod1 superoxide dismutase 1 severity ISO mRNA:increased expression:cochlea (mouse) RGD PMID:10464373 PMID:11678164 RGD:8655636 RGD:8655665 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867 		JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:decreased expression,decreased activity:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		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 chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201 		JBrowse link
G Tyr tyrosinase treatment
onset		 ISO associated with Albinism; RGD PMID:19141317 PMID:19843244 RGD:8694324 RGD:8694327 NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		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 chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238 		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 chrNW_004936470:41,354,387...41,401,308
Ensembl chrNW_004936470:41,354,287...41,401,317 		JBrowse link
Sensorineural Deafness and Male Infertility term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper2 cation channel sperm associated 2 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:19344877 PMID:24033266 PMID:25741868 NCBI chrNW_004936471:6,791,490...6,809,048
Ensembl chrNW_004936471:6,793,492...6,808,326 		JBrowse link
G Ckmt1a creatine kinase, mitochondrial 1A ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004936471:6,754,514...6,760,025 JBrowse link
G Pdia3 protein disulfide isomerase family A member 3 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004936471:6,809,181...6,834,189
Ensembl chrNW_004936471:6,809,195...6,836,169 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chrNW_004936471:6,707,865...6,751,064
Ensembl chrNW_004936471:6,707,893...6,751,045 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chrNW_004936471:6,760,289...6,777,425
Ensembl chrNW_004936471:6,760,294...6,777,425 		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: Sensorineural deafness with hypertrophic cardiomyopathy ClinVar PMID:15060111 PMID:18212818 PMID:18348273 PMID:24033266 PMID:28492532 NCBI chrNW_004936788:1,125,332...1,264,372
Ensembl chrNW_004936788:1,174,544...1,262,746 		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 chrNW_004936522:6,329,981...6,338,825
Ensembl chrNW_004936522:6,327,594...6,338,823 		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 chrNW_004936765:667,107...670,627
Ensembl chrNW_004936765:667,053...670,672 		JBrowse link
G Adprs ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chrNW_004936474:18,580,615...18,586,325
Ensembl chrNW_004936474:18,580,615...18,586,307 		JBrowse link
G Afg3l2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:32219868 NCBI chrNW_004936626:150,953...189,980
Ensembl chrNW_004936626:150,974...189,218 		JBrowse link
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 NCBI chrNW_004936479:1,441,508...1,477,133
Ensembl chrNW_004936479:1,441,437...1,478,107 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:17454231 RGD:7771593 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chrNW_004936627:1,555,151...1,584,370
Ensembl chrNW_004936627:1,554,873...1,584,638 		JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chrNW_004936481:17,438,146...17,460,329
Ensembl chrNW_004936481:17,436,270...17,460,348 		JBrowse link
G Bcap31 B cell receptor associated protein 31 ISO DNA:mutation, deletion:exon:p.Q33X (human) RGD PMID:24011989 RGD:7483567 NCBI chrNW_004936809:582,689...614,800
Ensembl chrNW_004936809:582,649...615,079 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA,protein:increased expression:inferior colliculus: RGD PMID:20598895 RGD:8655560 NCBI chrNW_004936540:5,530,081...5,582,765
Ensembl chrNW_004936540:5,529,942...5,585,014 		JBrowse link
G Brf1 BRF1 RNA polymerase III transcription initiation factor subunit ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936621:265,834...329,255
Ensembl chrNW_004936621:265,829...328,040 		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 chrNW_004936522:6,329,981...6,338,825
Ensembl chrNW_004936522:6,327,594...6,338,823 		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 chrNW_004936671:1,404,595...1,632,916
Ensembl chrNW_004936671:1,404,589...1,633,328 		JBrowse link
G Cat catalase ISO RGD PMID:15109710 RGD:8547516 NCBI chrNW_004936533:3,601,270...3,637,128
Ensembl chrNW_004936533:3,600,955...3,637,422 		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 chrNW_004936503:13,524,981...13,537,449 JBrowse link
G Clcn3 chloride voltage-gated channel 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chrNW_004936516:1,678,610...1,760,099
Ensembl chrNW_004936516:1,678,653...1,760,294 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936474:3,591,134...3,601,562 JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936500:6,207,856...6,227,582
Ensembl chrNW_004936500:6,226,618...6,227,337 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:16261627 PMID:19461658 PMID:25780252 PMID:28492532 PMID:30311386 More... NCBI chrNW_004936494:5,617,201...5,633,500
Ensembl chrNW_004936494:5,617,016...5,633,083 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chrNW_004936730:466,912...680,823
Ensembl chrNW_004936730:468,039...680,753 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936476:25,663,563...25,692,315
Ensembl chrNW_004936476:25,663,755...25,691,344 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16189708 NCBI chrNW_004936512:5,861,933...5,894,898
Ensembl chrNW_004936512:5,861,933...5,892,853 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936618:2,176,328...2,260,000
Ensembl chrNW_004936618:2,176,240...2,260,000 		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 chrNW_004936514:10,319,187...10,340,921 JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936669:3,302,014...3,326,233
Ensembl chrNW_004936669:3,301,802...3,320,643 		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 chrNW_004936504:12,548,452...12,645,236
Ensembl chrNW_004936504:12,548,452...12,643,399 		JBrowse link
G Dpt dermatopontin ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chrNW_004936481:17,723,108...17,747,712
Ensembl chrNW_004936481:17,722,977...17,747,718 		JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936530:1,744,216...1,766,602
Ensembl chrNW_004936530:1,744,199...1,765,027 		JBrowse link
G Ednrb endothelin receptor type B ISO DNA:mutation:cds: RGD PMID:21915282 RGD:6480217 NCBI chrNW_004936511:3,446,864...3,478,434
Ensembl chrNW_004936511:3,446,839...3,478,434 		JBrowse link
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:25762674 RGD:11567237 NCBI chrNW_004936728:706,499...843,447
Ensembl chrNW_004936728:761,804...844,690 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO associated with Cockayne Syndrome RGD PMID:25762674 RGD:11567237 NCBI chrNW_004936480:7,560,055...7,609,650
Ensembl chrNW_004936480:7,560,023...7,609,648 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO DNA:deletion:introns, exon (human) RGD PMID:15735644 RGD:1598455 NCBI chrNW_004936560:1,325,521...1,466,216
Ensembl chrNW_004936560:1,337,842...1,462,285 		JBrowse link
G F2 coagulation factor II, thrombin no_association ISO DNA:transition: :20210G>A (human)
DNA:transition: :20210G>A(human)
associated with Stroke		 RGD PMID:16572609 PMID:17334320 PMID:18636032 RGD:7387240 RGD:7387261 RGD:7387268 NCBI chrNW_004936562:2,371,725...2,388,617
Ensembl chrNW_004936562:2,372,044...2,388,650 		JBrowse link
G F5 coagulation factor V no_association ISO DNA:SNP: :1691G>A (human)
DNA:mutation		 RGD PMID:16015153 PMID:16572609 RGD:7387240 RGD:7387260 NCBI chrNW_004936481:17,114,441...17,178,902
Ensembl chrNW_004936481:17,114,480...17,178,844 		JBrowse link
G Fadd Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chrNW_004936599:633,501...639,412
Ensembl chrNW_004936599:633,330...639,456 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chrNW_004936599:868,634...875,464
Ensembl chrNW_004936599:868,634...875,464 		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 chrNW_004936486:10,506,680...10,606,272
Ensembl chrNW_004936486:10,507,097...10,602,019 		JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936476:18,314,108...18,346,149
Ensembl chrNW_004936476:18,313,951...18,346,199 		JBrowse link
G Gab1 GRB2 associated binding protein 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chrNW_004936535:4,934,743...5,048,698
Ensembl chrNW_004936535:4,932,261...5,048,693 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chrNW_004936515:1,806,721...1,859,227
Ensembl chrNW_004936515:1,805,239...1,859,600 		JBrowse link
G Gabrr2 gamma-aminobutyric acid type A receptor subunit rho2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chrNW_004936510:2,891,136...2,949,428
Ensembl chrNW_004936510:2,891,101...2,951,071 		JBrowse link
G Gas2 growth arrest specific 2 ISO MouseDO NCBI chrNW_004936654:3,326,557...3,448,930
Ensembl chrNW_004936654:3,326,511...3,448,872 		JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957 RGD PMID:10935639 RGD:1358706 NCBI chrNW_004936484:6,780,692...6,800,883
Ensembl chrNW_004936484:6,780,692...6,800,966 		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 chrNW_004936829:13,235...61,556
Ensembl chrNW_004936829:13,229...62,510 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:32403198 NCBI chrNW_004936484:17,104,437...17,115,897
Ensembl chrNW_004936484:17,104,750...17,110,059 		JBrowse link
G Gipc3 GIPC PDZ domain containing family member 3 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:23510777 PMID:24033266 PMID:25741868 PMID:28492532 PMID:32747562 More... NCBI chrNW_004936588:2,034,576...2,038,274
Ensembl chrNW_004936588:2,034,491...2,038,280 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO 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 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Gjb3 gap junction protein beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy ClinVar PMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 PMID:19197336 More... NCBI chrNW_004936474:17,427,255...17,431,368
Ensembl chrNW_004936474:17,429,926...17,430,729 		JBrowse link
G Gjc3 gap junction protein gamma 3 ISO RGD PMID:16481432 RGD:1578421 NCBI chrNW_004936543:73,253...74,065
Ensembl chrNW_004936543:71,138...74,065 		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:20602914 PMID:21348867 RGD:11552574 RGD:11552577 NCBI chrNW_004936704:462,984...516,929
Ensembl chrNW_004936704:462,971...516,829 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chrNW_004936470:41,856,683...41,961,666
Ensembl chrNW_004936470:41,859,035...42,002,844 		JBrowse link
G Gsdme gasdermin E ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936478:1,655,487...1,720,996 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 chrNW_004936531:9,625,206...9,633,463
Ensembl chrNW_004936531:9,624,927...9,632,611 		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 chrNW_004936545:6,139,130...6,144,543
Ensembl chrNW_004936545:6,139,116...6,148,452 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:9693304 RGD:8662926 NCBI chrNW_004936662:1,594,953...1,599,625
Ensembl chrNW_004936662:1,594,953...1,599,625 		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 chrNW_004936536:8,351,394...8,383,857
Ensembl chrNW_004936536:8,351,359...8,383,907 		JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chrNW_004936475:7,354,273...7,358,328
Ensembl chrNW_004936475:7,354,642...7,358,553 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:snp:cds:c.807C>T (rs1126643) (human) RGD PMID:22948415 RGD:8686432 NCBI chrNW_004936480:14,320,292...14,417,828
Ensembl chrNW_004936480:14,320,692...14,417,786 		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 chrNW_004936475:24,294,699...24,312,051
Ensembl chrNW_004936475:24,292,876...24,312,076 		JBrowse link
G Kcnj10 potassium inwardly rectifying channel subfamily J member 10 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chrNW_004936740:555,948...589,219
Ensembl chrNW_004936740:555,998...586,353 		JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:27081546 PMID:30311386 PMID:34652575 NCBI chrNW_004936474:22,444,359...22,496,097
Ensembl chrNW_004936474:22,444,358...22,496,105 		JBrowse link
G Kl klotho ISO RGD PMID:21167925 RGD:10403058 NCBI chrNW_004936472:27,604,681...27,649,613
Ensembl chrNW_004936472:27,604,517...27,650,086 		JBrowse link
G Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936504:8,500,024...8,568,477
Ensembl chrNW_004936504:8,499,978...8,570,715 		JBrowse link
G Lmx1a LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:29971487 NCBI chrNW_004936481:19,863,487...19,984,299
Ensembl chrNW_004936481:19,863,487...19,983,926 		JBrowse link
G LOC101967120 cytochrome c oxidase assembly protein COX18, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936598:2,343,103...2,354,226
Ensembl chrNW_004936598:2,343,574...2,357,019 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:22899989 PMID:25741868 PMID:25963016 PMID:28492532 PMID:30303587 NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G LOC101972535 dual specificity protein phosphatase CDC14A ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936748:479,026...612,554
Ensembl chrNW_004936748:479,503...623,126 		JBrowse link
G LOC101975324 tubulin-specific chaperone cofactor E-like protein ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260
Ensembl chrNW_004936542:5,884,624...5,951,260 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chrNW_004936469:10,245,001...10,438,933
Ensembl chrNW_004936469:10,244,881...10,438,935 		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 chrNW_004936603:1,682,411...1,858,295
Ensembl chrNW_004936603:1,682,513...1,858,173 		JBrowse link
G Mrps7 mitochondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936594:548,480...552,026
Ensembl chrNW_004936594:548,480...556,130 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936889:121,724...184,374
Ensembl chrNW_004936889:122,853...183,928 		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 chrNW_004936492:4,384,215...4,466,229
Ensembl chrNW_004936492:4,384,215...4,466,262 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:9536098 PMID:17546645 PMID:17576681 PMID:24033266 PMID:24875298 More... NCBI chrNW_004936741:1,669,680...1,724,929
Ensembl chrNW_004936741:1,669,680...1,723,891 		JBrowse link
G Myo1a myosin IA ISO DFNA48, OMIM:607841 RGD PMID:12736868 RGD:1600218 NCBI chrNW_004936646:1,238,630...1,258,491
Ensembl chrNW_004936646:1,238,865...1,258,040 		JBrowse link
G Myo1f myosin IF ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chrNW_004936588:5,299,977...5,331,065
Ensembl chrNW_004936588:5,302,018...5,336,345 		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 chrNW_004936484:1,509,248...1,723,717
Ensembl chrNW_004936484:1,509,235...1,723,554 		JBrowse link
G Myo6 myosin VI ISO DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y RGD PMID:11468689 RGD:1600556 NCBI chrNW_004936788:1,125,332...1,264,372
Ensembl chrNW_004936788:1,174,544...1,262,746 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936498:6,967,277...7,108,130
Ensembl chrNW_004936498:6,972,180...7,108,116 		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 chrNW_004936514:5,900,135...5,967,862
Ensembl chrNW_004936514:5,901,601...5,967,865 		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 chrNW_004936757:1,642,122...1,646,499
Ensembl chrNW_004936757:1,642,222...1,645,697 		JBrowse link
G Ngf nerve growth factor ISO protein:decreased expression:serum: RGD PMID:14587217 RGD:8655553 NCBI chrNW_004936627:635,784...641,290
Ensembl chrNW_004936627:635,788...645,364 		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 chrNW_004936493:5,916,113...5,999,867
Ensembl chrNW_004936493:5,916,113...5,999,784 		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 chrNW_004936660:2,570,627...2,574,081
Ensembl chrNW_004936660:2,570,625...2,573,296 		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 chrNW_004936476:16,948,137...16,963,601
Ensembl chrNW_004936476:16,949,028...16,964,040 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO DNA:mutations:cds: RGD PMID:15029877 RGD:11556244 NCBI chrNW_004936624:2,124,479...2,312,847
Ensembl chrNW_004936624:2,126,253...2,312,847 		JBrowse link
G Phf7 PHD finger protein 7 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chrNW_004936473:3,248,004...3,261,491
Ensembl chrNW_004936473:3,247,998...3,261,483 		JBrowse link
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:31397523 NCBI chrNW_004936540:4,205,871...4,323,121
Ensembl chrNW_004936540:4,205,844...4,323,120 		JBrowse link
G Plscr4 phospholipid scramblase 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936519:8,977,763...9,022,761
Ensembl chrNW_004936519:8,977,623...9,024,524 		JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:25741868 NCBI chrNW_004936504:8,348,460...8,351,246
Ensembl chrNW_004936504:8,348,398...8,351,804 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chrNW_004936721:1,050,755...1,060,603
Ensembl chrNW_004936721:1,050,801...1,060,574 		JBrowse link
G Prkcb protein kinase C beta ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27329761 NCBI chrNW_004936501:8,410,273...8,729,238
Ensembl chrNW_004936501:8,437,715...8,728,716 		JBrowse link
G Ptgds prostaglandin D2 synthase ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chrNW_004936669:961,246...964,584
Ensembl chrNW_004936669:961,034...965,136 		JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936698:1,372,604...1,569,905
Ensembl chrNW_004936698:1,372,607...1,569,905 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25590979 PMID:25741868 PMID:28492532 PMID:28967629 PMID:31523922 NCBI chrNW_004936479:1,425,765...1,437,338
Ensembl chrNW_004936479:1,425,722...1,437,374 		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 chrNW_004936470:41,354,387...41,401,308
Ensembl chrNW_004936470:41,354,287...41,401,317 		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 chrNW_004936522:8,004,503...8,110,995
Ensembl chrNW_004936522:8,005,442...8,110,889 		JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chrNW_004936789:872,760...1,053,606
Ensembl chrNW_004936789:933,877...1,053,566 		JBrowse link
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:34374074 NCBI chrNW_004936504:1,378,812...1,465,463
Ensembl chrNW_004936504:1,378,810...1,465,623 		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 chrNW_004936554:4,130,461...4,135,046
Ensembl chrNW_004936554:4,130,459...4,135,044 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15279074 PMID:16053392 PMID:17322586 NCBI chrNW_004936479:16,435,779...16,483,139
Ensembl chrNW_004936479:16,435,739...16,481,332 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO mRNA:decreased expression:organ of Corti (mouse) RGD PMID:19363478 RGD:9585667 NCBI chrNW_004936479:20,104,625...20,145,392
Ensembl chrNW_004936479:20,104,595...20,144,601 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936470:7,886,169...7,888,592
Ensembl chrNW_004936470:7,881,890...7,888,592 		JBrowse link
G Slc7a14 solute carrier family 7 member 14 ISO MouseDO NCBI chrNW_004936593:1,938,392...2,045,639
Ensembl chrNW_004936593:1,991,491...2,044,329 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISO OMIM:304400 MouseDO NCBI chrNW_004936722:1,143,405...1,202,407
Ensembl chrNW_004936722:1,143,309...1,202,514 		JBrowse link
G Slitrk6 SLIT and NTRK like family member 6 ISO OMIM:304400 MouseDO NCBI chrNW_004936866:412,719...419,381
Ensembl chrNW_004936866:412,818...419,381 		JBrowse link
G Sod2 superoxide dismutase 2 ISO protein:increased activity:cochlea: RGD PMID:15109710 RGD:8547516 NCBI chrNW_004936489:11,178,338...11,191,601
Ensembl chrNW_004936489:11,178,015...11,191,781 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: sensorineural hearing loss disorder ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chrNW_004936513:7,218,583...7,221,085 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 chrNW_004936677:1,058,601...1,093,233
Ensembl chrNW_004936677:1,058,595...1,093,147 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:24472721 RGD:11554193 NCBI chrNW_004936561:3,826,802...3,844,406
Ensembl chrNW_004936561:3,825,787...3,844,483 		JBrowse link
G Strc stereocilin ISO RGD PMID:11687802 RGD:1599186 NCBI chrNW_004936471:6,760,289...6,777,425
Ensembl chrNW_004936471:6,760,294...6,777,425 		JBrowse link
G Stx4 syntaxin 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:30311386 PMID:36355422 NCBI chrNW_004936501:13,401,095...13,408,316
Ensembl chrNW_004936501:13,401,989...13,408,325 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO DNA:frameshift mutation:CDS:p.G387AfsX73 (human) RGD PMID:32110744 RGD:155641234 NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525 		JBrowse link
G Tcf19 transcription factor 19 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936837:821,884...825,766
Ensembl chrNW_004936837:821,861...826,088 		JBrowse link
G Tenm1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936479:5,603,944...6,254,846
Ensembl chrNW_004936479:5,710,613...6,250,232 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936614:4,595,973...4,605,040
Ensembl chrNW_004936614:4,596,617...4,605,104 		JBrowse link
G Tmc1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chrNW_004936503:8,669,465...8,826,340
Ensembl chrNW_004936503:8,719,540...8,825,795 		JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chrNW_004936481:19,586,870...19,609,043
Ensembl chrNW_004936481:19,586,870...19,611,933 		JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chrNW_004936596:531,260...540,608
Ensembl chrNW_004936596:531,254...541,693 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO DFNB10, OMIM:605316, DFNB8 OMIM:601072 RGD PMID:11137999 RGD:1599443 NCBI chrNW_004936500:1,480,688...1,501,735
Ensembl chrNW_004936500:1,480,688...1,501,735 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:25741868 NCBI chrNW_004936487:4,172,263...4,256,780
Ensembl chrNW_004936487:4,172,886...4,233,126 		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:7394704 RGD:8142347 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936741:1,809,371...1,838,711
Ensembl chrNW_004936741:1,809,909...1,838,734 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO RGD PMID:20211154 RGD:8695932 NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
G Usp31 ubiquitin specific peptidase 31 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936501:7,844,685...7,876,128
Ensembl chrNW_004936501:7,844,705...7,876,054 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Sensorineural hearing loss ClinVar PMID:12107816 PMID:22238590 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936477:18,339,915...18,364,973
Ensembl chrNW_004936477:18,339,827...18,364,998 		JBrowse link
G Whrn whirlin ISO RGD PMID:12833159 RGD:1580603 NCBI chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238 		JBrowse link
G Zscan10 zinc finger and SCAN domain containing 10 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chrNW_004936694:1,100,190...1,107,114
Ensembl chrNW_004936694:1,100,190...1,107,010 		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: Split hand-foot malformation 1 with sensorineural hearing loss OMIM
ClinVar		 PMID:22121204 NCBI chrNW_004936585:3,462,063...3,466,641
Ensembl chrNW_004936585:3,461,944...3,466,641 		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:22842227 PMID:22842230 PMID:22842231 PMID:25741868 PMID:26018082 More... NCBI chrNW_004936623:3,862,234...3,891,849
Ensembl chrNW_004936623:3,870,031...3,891,849 		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 chrNW_004936647:3,904,787...3,914,223
Ensembl chrNW_004936647:3,906,113...3,913,498 		JBrowse link
G Igf1 insulin like growth factor 1 treatment ISO RGD PMID:21108784 RGD:8548824 NCBI chrNW_004936492:11,709,623...11,784,028
Ensembl chrNW_004936492:11,709,222...11,778,351 		JBrowse link
G Il4r interleukin 4 receptor ISO DNA:SNP: :p.Q576R (rs 180275) (human) RGD PMID:16280132 RGD:7829784 NCBI chrNW_004936501:11,025,590...11,058,807
Ensembl chrNW_004936501:11,025,567...11,058,818 		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 chrNW_004936549:7,015,595...7,016,246 JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO DNA:SNP: :807C>T (human) RGD PMID:16525573 RGD:1582302 NCBI chrNW_004936480:14,320,292...14,417,828
Ensembl chrNW_004936480:14,320,692...14,417,786 		JBrowse link
G LOC101955831 heat shock 70 kDa protein 1 ISO DNA:SNP, haplotype: :rs2763979 (human) RGD PMID:22922572 RGD:8662465 NCBI chrNW_004936727:1,718,952...1,721,691 JBrowse link
G LOC101956126 heat shock 70 kDa protein 1 ISO DNA:SNP, haplotype: :rs1043618 (human) RGD PMID:22922572 RGD:8662465 NCBI chrNW_004936727:1,732,323...1,735,128 JBrowse link
G LOC101956412 heat shock 70 kDa protein 1-like ISO DNA:SNP, haplotype: :rs2075800 (human) RGD PMID:22922572 RGD:8662465 NCBI chrNW_004936727:1,735,880...1,745,231
Ensembl chrNW_004936727:1,736,243...1,745,231 		JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism:intron:252A>G (human) RGD PMID:19833626 RGD:8548795 NCBI chrNW_004936727:1,940,081...1,941,022
Ensembl chrNW_004936727:1,940,081...1,941,022 		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 chrNW_004936551:5,167,909...5,175,149
Ensembl chrNW_004936551:5,168,044...5,174,857 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association		 ISO DNA:SNPs:cds:677C>T,1298A>C(human)
DNA:SNP: :677C>T(human)
DNA:SNP:cds:677C>T(human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15775757 PMID:16275406 PMID:16572609 PMID:20798492 RGD:7387236 RGD:7387240 RGD:7387243 NCBI chrNW_004936474:623,438...637,849
Ensembl chrNW_004936474:623,291...638,193 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:16778415 RGD:8694081 NCBI chrNW_004936484:16,087,924...16,180,089
Ensembl chrNW_004936484:16,087,923...16,180,148 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO DNA:snp:cds:p.E298D (rs1799983) (human) RGD PMID:23560644 RGD:7771541 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534 		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 chrNW_004936543:1,032,543...1,040,956
Ensembl chrNW_004936543:1,032,794...1,039,123 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:11189185 RGD:7394753 NCBI chrNW_004936727:1,936,066...1,937,766
Ensembl chrNW_004936727:1,936,066...1,937,766 		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 ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia OMIM
ClinVar		 PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More... NCBI chrNW_004936481:17,197,133...17,225,435
Ensembl chrNW_004936481:17,197,095...17,227,891 		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 CTD NCBI chrNW_004936495:3,017,029...3,026,759
Ensembl chrNW_004936495:3,017,150...3,025,684 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Deafness, sensorineural, with imperforate anus and hypoplastic thumbs | ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome OMIM
ClinVar		 PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More... NCBI chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413 		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: Townes-Brocks syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28054444 PMID:28492532 PMID:36066768 NCBI chrNW_004936495:3,017,029...3,026,759
Ensembl chrNW_004936495:3,017,150...3,025,684 		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 chrNW_004936475:4,106,663...4,121,356
Ensembl chrNW_004936475:4,106,084...4,121,413 		JBrowse link
Usher syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:14740321 PMID:15671307 PMID:16199547 PMID:19357117 PMID:22135276 More... NCBI chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chrNW_004936541:7,664,241...7,782,762
Ensembl chrNW_004936541:7,703,214...7,782,799 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chrNW_004936491:15,112,422...15,138,716
Ensembl chrNW_004936491:15,112,321...15,139,525 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chrNW_004936599:3,059,274...3,076,853
Ensembl chrNW_004936599:3,059,148...3,076,299 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,113,933...2,138,487
Ensembl chrNW_004936650:2,113,649...2,138,934 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936599:2,295,124...2,299,558
Ensembl chrNW_004936599:2,293,000...2,300,322 		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 chrNW_004936594:4,075,105...4,124,850
Ensembl chrNW_004936594:4,089,214...4,124,153 		JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 NCBI chrNW_004936561:5,283,258...5,331,688
Ensembl chrNW_004936561:5,280,959...5,322,038 		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 chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 More... NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chrNW_004936494:5,617,201...5,633,500
Ensembl chrNW_004936494:5,617,016...5,633,083 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chrNW_004936525:8,788,753...8,899,671
Ensembl chrNW_004936525:8,795,436...8,899,149 		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 chrNW_004936567:6,347,661...6,559,731
Ensembl chrNW_004936567:6,366,489...6,559,766 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Dystrophia retinae pigmentosa-dysostosis syndrome | ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G CUNH1orf115 chromosome unknown C1orf115 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,575,098...1,586,515
Ensembl chrNW_004936650:1,575,083...1,586,548 		JBrowse link
G Dgkq diacylglycerol kinase theta ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chrNW_004936477:22,225,624...22,238,825
Ensembl chrNW_004936477:22,225,618...22,238,803 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:679,650...718,867
Ensembl chrNW_004936650:679,647...720,038 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,145,614...2,219,812
Ensembl chrNW_004936650:2,145,607...2,220,019 		JBrowse link
G Esrrg estrogen related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:1,635,161...2,058,198
Ensembl chrNW_004936628:1,830,881...2,058,269 		JBrowse link
G Gpatch2 G-patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:1,006,216...1,181,124
Ensembl chrNW_004936628:1,006,188...1,180,885 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chrNW_004936476:17,690,484...17,701,288
Ensembl chrNW_004936476:17,691,045...17,701,859 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chrNW_004936721:757,500...778,416
Ensembl chrNW_004936721:758,181...778,053 		JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:10,986...33,985
Ensembl chrNW_004936650:11,042...33,985 		JBrowse link
G Hlx H2.0 like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,416,825...1,422,595
Ensembl chrNW_004936650:1,416,812...1,422,588 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,056,921...2,112,487
Ensembl chrNW_004936650:2,056,921...2,112,767 		JBrowse link
G LOC101960714 cone-rod homeobox protein ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chrNW_004936664:1,408,618...1,419,096
Ensembl chrNW_004936664:1,409,229...1,419,234 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Lyplal1 lysophospholipase like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:2,933,661...2,960,558
Ensembl chrNW_004936650:2,933,306...2,960,846 		JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,607,480...1,672,591
Ensembl chrNW_004936650:1,605,487...1,667,297 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,477,138...1,504,501
Ensembl chrNW_004936650:1,478,037...1,504,611 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,506,471...1,543,532
Ensembl chrNW_004936650:1,506,329...1,543,712 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome		 ClinVar PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936501:7,383,963...7,456,470
Ensembl chrNW_004936501:7,392,616...7,456,677 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936569:4,215,513...4,307,815
Ensembl chrNW_004936569:4,216,900...4,307,815 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chrNW_004936504:5,018,171...5,088,333
Ensembl chrNW_004936504:5,018,064...5,092,024 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chrNW_004936477:11,878,261...12,017,228
Ensembl chrNW_004936477:11,878,012...12,018,177 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chrNW_004936476:17,159,756...17,174,226
Ensembl chrNW_004936476:17,160,016...17,173,981 		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 chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:1,944,291...2,054,847
Ensembl chrNW_004936650:1,944,346...2,056,665 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:408,854...456,464
Ensembl chrNW_004936628:408,911...456,425 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:813,437...1,006,000 JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I subunit A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936650:7...6,758 JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chrNW_004936628:310,720...394,002
Ensembl chrNW_004936628:308,691...394,007 		JBrowse link
G Ush1c USH1 protein network component harmonin treatment ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome		 RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695937 NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		JBrowse link
G Ush2a usherin susceptibility ISO DNA:snps, insertion:exon, intron:multiple (human)
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome		 RGD
ClinVar		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... RGD:8547956 NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		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 chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238 		JBrowse link
G Zdhhc24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chrNW_004936599:3,047,011...3,054,512
Ensembl chrNW_004936599:3,047,011...3,054,498 		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 chrNW_004936469:8,653,031...9,209,840 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 chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		JBrowse link
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		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 chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
G Ush1c USH1 protein network component harmonin onset ISO DNA:deletion:exon:c.1220delG(human)
ClinVar Annotator: match by term: Usher syndrome type 1		 RGD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695919 NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		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 chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:20301442 PMID:21569298 PMID:24033266 PMID:25741868 PMID:26667666 More... NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Myo7a myosin VIIA treatment ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety OMIM
ClinVar
RGD		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... RGD:8694151 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
Usher syndrome type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 1C OMIM
ClinVar		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... NCBI chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH10orf105 chromosome unknown C10orf105 homolog ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:11090341 PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 More... NCBI chrNW_004936521:7,095,044...7,095,497
Ensembl chrNW_004936521:7,095,068...7,095,469 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		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 chrNW_004936521:6,975,844...7,009,460
Ensembl chrNW_004936521:6,975,770...7,009,136 		JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F OMIM
ClinVar		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		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 chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: USH1G-Related Disorders | ClinVar Annotator: match by term: USH1G-related condition | ClinVar Annotator: match by term: Usher syndrome type 1G OMIM
ClinVar		 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chrNW_004936594:258,115...262,739
Ensembl chrNW_004936594:259,030...262,778 		JBrowse link
Usher syndrome type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1J OMIM
ClinVar		 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 More... NCBI chrNW_004936471:36,859,018...36,879,170
Ensembl chrNW_004936471:36,859,018...36,878,878 		JBrowse link
Usher Syndrome Type 1M term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome, type 1M OMIM
ClinVar		 PMID:15930085 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993 		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 chrNW_004936469:8,653,031...9,209,840 JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		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 chrNW_004936528:1,552,175...1,594,740
Ensembl chrNW_004936528:1,552,289...1,594,801 		JBrowse link
G Ush2a usherin susceptibility ISO DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:mutations:multiple (human)
DNA:insertion, deletions, snps:multiple (human)
DNA:snp:intron:c.7595-2144A>G (human)		 RGD
ClinVar		 PMID:2564938 PMID:9536098 PMID:10729113 PMID:10738000 PMID:10909849 More... RGD:8547952 RGD:8547962 RGD:8547965 RGD:8547985 NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		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 chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chrNW_004936628:2,862,536...2,912,784
Ensembl chrNW_004936628:2,862,617...2,912,790 		JBrowse link
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chrNW_004936555:5,966,610...5,982,083
Ensembl chrNW_004936555:5,979,417...5,982,011 		JBrowse link
G Ush2a usherin susceptibility ISO ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... RGD:8547961 RGD:8547987 NCBI chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
Usher syndrome type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: ADGRV1-related condition | ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic OMIM
ClinVar		 PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chrNW_004936469:8,653,031...9,209,840 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 chrNW_004936474:10,697,777...10,706,988
Ensembl chrNW_004936474:10,699,819...10,706,591 		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 chrNW_004936676:1,870,856...2,138,832
Ensembl chrNW_004936676:1,870,814...2,135,823 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic OMIM
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 More... NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107 		JBrowse link
G Slc4a7 solute carrier family 4 member 7 ISO OMIM:605472 MouseDO NCBI chrNW_004936473:18,550,489...18,645,470
Ensembl chrNW_004936473:18,550,484...18,645,628 		JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:15677485 PMID:18172102 PMID:19150991 PMID:22995991 PMID:25333069 More... NCBI chrNW_004936531:5,513,082...5,546,515
Ensembl chrNW_004936531:5,513,082...5,548,501 		JBrowse link
Usher syndrome type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D OMIM
ClinVar		 PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 More... NCBI chrNW_004936487:3,668,465...3,748,234
Ensembl chrNW_004936487:3,669,104...3,748,238 		JBrowse link
Usher syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
Usher syndrome type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A OMIM
ClinVar		 PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... NCBI chrNW_004936758:1,250,831...1,286,016
Ensembl chrNW_004936758:1,250,769...1,285,376 		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 chrNW_004936628:2,123,917...2,859,958
Ensembl chrNW_004936628:2,123,957...2,858,872 		JBrowse link
Usher syndrome type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnd1 DND microRNA-mediated repression inhibitor 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chrNW_004936531:9,607,678...9,610,245
Ensembl chrNW_004936531:9,607,906...9,609,965 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 More... NCBI chrNW_004936531:9,610,335...9,625,203
Ensembl chrNW_004936531:9,610,306...9,625,551 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chrNW_004936531:9,625,206...9,633,463
Ensembl chrNW_004936531:9,624,927...9,632,611 		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 chrNW_004936541:7,664,241...7,782,762
Ensembl chrNW_004936541:7,703,214...7,782,799 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 ClinVar PMID:25741868 PMID:28492532 PMID:33300174 PMID:35226187 PMID:36317447 NCBI chrNW_004936541:7,845,876...7,863,677
Ensembl chrNW_004936541:7,845,676...7,863,709 		JBrowse link
Usher Syndrome, Type 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:14740321 PMID:15671307 PMID:19357117 PMID:22135276 PMID:22147658 More... NCBI chrNW_004936469:8,653,031...9,209,840 JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chrNW_004936600:4,660,211...4,678,911
Ensembl chrNW_004936600:4,661,332...4,678,107 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101969963 cadherin-23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chrNW_004936521:7,078,874...7,285,361
Ensembl chrNW_004936521:7,010,360...7,340,842 		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 chrNW_004936910:233,800...602,145
Ensembl chrNW_004936910:141,917...602,089 		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 chrNW_004936551:5,638,383...5,740,523
Ensembl chrNW_004936551:5,634,751...5,740,567 		JBrowse link
Vertigo term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Vertigo ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chrNW_004936554:4,130,461...4,135,046
Ensembl chrNW_004936554:4,130,459...4,135,044 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Vertigo ClinVar PMID:25741868 NCBI chrNW_004936487:4,172,263...4,256,780
Ensembl chrNW_004936487:4,172,886...4,233,126 		JBrowse link
vestibular disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21269433 NCBI chrNW_004936627:1,555,151...1,584,370
Ensembl chrNW_004936627:1,554,873...1,584,638 		JBrowse link
G Espn espin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:10975527 PMID:15286153 RGD:734943 NCBI chrNW_004936623:1,220,435...1,249,743
Ensembl chrNW_004936623:1,220,593...1,248,993 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chrNW_004936488:6,141,913...6,153,591
Ensembl chrNW_004936488:6,141,317...6,154,075 		JBrowse link
G Kcna10 potassium voltage-gated channel subfamily A member 10 ISO MouseDO NCBI chrNW_004936704:1,933,620...1,935,541
Ensembl chrNW_004936704:1,933,625...1,935,160 		JBrowse link
G Myo7a myosin VIIA ISO DNA:mutations:cds:multiple (mouse) RGD PMID:9680294 RGD:4892285 NCBI chrNW_004936498:5,758,572...5,824,526
Ensembl chrNW_004936498:5,751,779...5,824,378 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chrNW_004936527:6,427,147...6,445,770
Ensembl chrNW_004936527:6,427,093...6,446,534 		JBrowse link
G Oc90 otoconin 90 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21269433 NCBI chrNW_004936470:17,072,435...17,099,520
Ensembl chrNW_004936470:17,072,435...17,099,118 		JBrowse link
G Srrm4 serine/arginine repetitive matrix 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17613114 NCBI chrNW_004936668:1,523,232...1,668,591
Ensembl chrNW_004936668:1,525,289...1,562,064 		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 OMIM
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
Wolfram syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cisd2 CDGSH iron sulfur domain 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 OMIM
ClinVar		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:25056293 More... NCBI chrNW_004936520:514,747...527,576
Ensembl chrNW_004936520:514,448...527,682 		JBrowse link
G Cisd3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741909 NCBI chrNW_004936490:14,136,209...14,138,940
Ensembl chrNW_004936490:14,136,640...14,138,969 		JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741909 NCBI chrNW_004936490:14,139,125...14,150,377
Ensembl chrNW_004936490:14,138,980...14,150,756 		JBrowse link
G Slc9b1 solute carrier family 9 member B1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chrNW_004936520:405,239...466,280
Ensembl chrNW_004936520:411,811...466,280 		JBrowse link
X-linked deafness 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1 OMIM
ClinVar		 PMID:8968763 PMID:10503584 PMID:15240907 PMID:17701900 PMID:20021999 More... NCBI chrNW_004936499:7,114,838...7,136,468
Ensembl chrNW_004936499:7,115,780...7,136,449 		JBrowse link
X-linked deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear ClinVar PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chrNW_004936720:1,528,205...1,530,296
Ensembl chrNW_004936720:1,528,249...1,528,929 		JBrowse link
G Gjb6 gap junction protein beta 6 ISO ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear ClinVar PMID:10730756 PMID:11017065 PMID:12419304 PMID:12788524 PMID:14708603 More... NCBI chrNW_004936720:1,485,895...1,494,673
Ensembl chrNW_004936720:1,493,733...1,494,518 		JBrowse link
G Pou3f4 POU class 3 homeobox 4 ISO ClinVar Annotator: match by term: Deafness, X-linked 2 | ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear OMIM
ClinVar		 PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 More... NCBI chrNW_004936547:4,454,239...4,455,460
Ensembl chrNW_004936547:4,454,297...4,455,382 		JBrowse link
X-linked deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpx small muscle protein X-linked ISO ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4 OMIM
ClinVar		 PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More... NCBI chrNW_004936624:2,603,210...2,659,368
Ensembl chrNW_004936624:2,603,171...2,659,364 		JBrowse link
X-linked deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor mitochondria associated 1 ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 OMIM
ClinVar		 PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chrNW_004936479:1,441,508...1,477,133
Ensembl chrNW_004936479:1,441,437...1,478,107 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY | ClinVar Annotator: match by term: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Deafness, X-linked 5 ClinVar PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chrNW_004936479:1,425,765...1,437,338
Ensembl chrNW_004936479:1,425,722...1,437,374 		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 chrNW_004936499:6,421,930...6,640,429
Ensembl chrNW_004936499:6,362,295...6,639,047 		JBrowse link
X-linked deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101970136 G-protein coupled receptor-associated sorting protein 2 ISO ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004936813:1,134,420...1,139,513
Ensembl chrNW_004936813:1,134,762...1,137,290 		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 chrNW_004936624:2,603,210...2,659,368
Ensembl chrNW_004936624:2,603,171...2,659,364 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6281
      auditory system disease 899
        inner ear disease 592
          bilateral hyperactive labyrinth 0
          cochlear disease + 8
          inner ear cancer + 0
          labyrinthine dysfunction + 0
          motion sickness + 0
          otitis interna + 1
          otosclerosis + 6
          sensorineural hearing loss + 550
          sparganosis 0
          superior semicircular canal dehiscence 0
          vestibular disease + 55
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        Neurologic Manifestations 9046
          sensory system disease 6281
            Otorhinolaryngologic Diseases 1591
              auditory system disease 899
                inner ear disease 592
                  bilateral hyperactive labyrinth 0
                  cochlear disease + 8
                  inner ear cancer + 0
                  labyrinthine dysfunction + 0
                  motion sickness + 0
                  otitis interna + 1
                  otosclerosis + 6
                  sensorineural hearing loss + 550
                  sparganosis 0
                  superior semicircular canal dehiscence 0
                  vestibular disease + 55
paths to the root