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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.


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 chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Cenpb centromere protein B ISO associated with limited scleroderma RGD PMID:18520322 RGD:27226707 NCBI chr 3:118,396,987...118,399,780
Ensembl chr 3:118,388,546...118,400,470 		JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
G Trmu tRNA mitochondrial 2-thiouridylase ISO ClinVar Annotator: match by term: Aminoglycoside-induced deafness | ClinVar Annotator: match by term: Deafness, mitochondrial, modifier of
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8817331 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19732863 More... NCBI chr 7:116,969,750...116,987,704
Ensembl chr 7:116,969,756...116,986,355 		JBrowse link
Athabaskan brainstem dysgenesis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:601536
ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome
DNA:mutations:cds:185delG,175-176insG,76C>T(human)		 CTD
MouseDO
ClinVar
OMIM
RGD		 PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 More... RGD:11553818 NCBI chr 4:81,255,814...81,258,587
Ensembl chr 4:81,255,883...81,258,504 		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 chr 4:81,262,668...81,266,970
Ensembl chr 4:81,262,768...81,265,044 		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 chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:28492532 NCBI chr18:7,776,704...7,990,934
Ensembl chr18:7,776,704...7,990,167 		JBrowse link
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: Auditory dys-synchrony ClinVar PMID:25741868 PMID:28965846 PMID:29040572 NCBI chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 5:158,304,285...158,335,502
Ensembl chr 5:158,304,287...158,335,342 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		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 chr 7:11,132,984...11,184,025
Ensembl chr 7:11,133,706...11,184,025 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		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 chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30634948 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30818899 NCBI chr 1:243,867,568...243,874,802
Ensembl chr 1:243,868,330...243,874,802 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		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 chr10:100,507,863...100,516,649
Ensembl chr10:100,507,865...100,516,658 		JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph3 diaphanous-related formin 3 ISO
ISS		 OMIM:609129
ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 More... NCBI chr15:62,543,375...63,013,060
Ensembl chr15:62,543,375...63,012,975 		JBrowse link
Autosomal Dominant Auditory Neuropathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO OMIM NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640 		JBrowse link
autosomal dominant auditory neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar		 PMID:18230648 PMID:20435227 PMID:21214875 PMID:21391237 PMID:21636032 More... NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant cerebellar ataxia, deafness and narcolepsy		 OMIM
CTD
ClinVar		 PMID:7898717 PMID:8747854 PMID:9536098 PMID:10210919 PMID:17576681 More... NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659 		JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human) 		OMIM
CTD
ClinVar
RGD		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672 		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 chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836 		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 chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154 		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 chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665 		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 chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387 		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 chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
G Pde1c phosphodiesterase 1C ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:29860631 NCBI chr 4:85,300,858...85,777,948
Ensembl chr 4:85,300,858...85,863,219 		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 chr 8:96,316,703...96,426,592
Ensembl chr 8:96,317,849...96,385,195 		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 chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9360932 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22938506 More... NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
G Ecscr endothelial cell surface expressed chemotaxis and apoptosis regulator ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar PMID:28492532 NCBI chr18:27,309,711...27,319,106
Ensembl chr18:27,309,718...27,319,032 		JBrowse link
G Eif4ebp3 eukaryotic translation initiation factor 4E binding protein 3 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA ClinVar PMID:28492532 NCBI chr18:28,263,089...28,268,033
Ensembl chr18:28,162,311...28,268,024 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11159937 PMID:15735644 PMID:17567890 PMID:17568404 More... NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3130723 PMID:8900236 PMID:9002678 PMID:9354784 PMID:9382091 More... NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
autosomal dominant nonsyndromic deafness 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO
ISS		 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12
OMIM:601543
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 More... NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707 		JBrowse link
autosomal dominant nonsyndromic deafness 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal dominant 13
OMIM:601868
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:21204229 More... NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9506947 PMID:14585957 PMID:18228599 PMID:19462854 PMID:20434433 More... NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797 		JBrowse link
autosomal dominant nonsyndromic deafness 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Strc stereocilin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 16 ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:5654493 PMID:9536098 PMID:12519370 PMID:13680526 PMID:14684684 More... NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
autosomal dominant nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripor2 RHO family interacting cell polarization regulator 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 21		 OMIM
CTD
ClinVar		 PMID:10764236 PMID:25741868 PMID:28492532 PMID:32631815 NCBI chr17:40,323,748...40,547,482
Ensembl chr17:40,323,867...40,548,092 		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
ISS		 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 22 | ClinVar Annotator: match by term: DFNA 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant 22 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 22
OMIM:606346
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 23		 OMIM
CTD
ClinVar		 PMID:10777717 PMID:12843324 PMID:15141091 PMID:16652090 PMID:16971658 More... NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
autosomal dominant nonsyndromic deafness 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc17a8 solute carrier family 17 member 8 ISO
ISS		 OMIM:605583
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 25		 OMIM
MouseDO
CTD
ClinVar		 PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISS OMIM:605583 MouseDO NCBI chr12:41,938,533...41,977,517
Ensembl chr12:41,938,560...41,977,517 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:25741868 PMID:28492532 PMID:29961578 PMID:34828371 NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354 		JBrowse link
autosomal dominant nonsyndromic deafness 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhl2 grainyhead-like transcription factor 2 ISO DNA:nonsense mutation:exon:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 28		 CTD
ClinVar
OMIM
RGD		 PMID:12393799 PMID:23813623 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:1599382 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258 		JBrowse link
autosomal dominant nonsyndromic deafness 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 2A | ClinVar Annotator: match by term: DFNA 2 Nonsyndromic Hearing Loss | ClinVar Annotator: match by term: Deafness, autosomal dominant 2A | ClinVar Annotator: match by term: KCNQ4-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8035838 PMID:9126484 PMID:9536098 PMID:10025409 PMID:10369879 More... NCBI chr 5:134,275,145...134,326,992
Ensembl chr 5:134,275,934...134,326,932 		JBrowse link
autosomal dominant nonsyndromic deafness 2B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb3 gap junction protein, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 2b		 CTD
OMIM
ClinVar		 PMID:9843210 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 More... NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
autosomal dominant nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 30 ClinVar PMID:32519820 NCBI chr17:84,543,465...84,759,562
Ensembl chr17:84,543,552...84,759,042 		JBrowse link
autosomal dominant nonsyndromic deafness 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640 		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 chr10:44,326,770...44,353,814
Ensembl chr10:44,328,566...44,352,811 		JBrowse link
autosomal dominant nonsyndromic deafness 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmc1 transmembrane channel-like 1 ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition
OMIM:606705
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 More... NCBI chr 1:218,275,249...218,446,013
Ensembl chr 1:218,276,417...218,445,955 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 More... NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		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 chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		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 chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997 		JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr15:31,694,284...31,711,367
Ensembl chr15:31,694,292...31,711,336 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10471490 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 More... NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr15:31,671,337...31,688,833 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr15:31,717,016...31,807,723
Ensembl chr15:31,716,762...31,807,908 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 40		 OMIM
CTD
ClinVar		 PMID:12471561 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:174,560,423...174,575,660
Ensembl chr 1:174,560,416...174,575,633 		JBrowse link
autosomal dominant nonsyndromic deafness 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P2rx2 purinergic receptor P2X 2 ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition
OMIM:608224
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chr12:46,338,979...46,342,891
Ensembl chr12:46,339,549...46,342,891 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 44
DNA:duplication:cds:c.1394_1401dupCACGGCAT(human)		 OMIM
CTD
ClinVar
RGD		 PMID:12483295 PMID:17503326 PMID:24033266 PMID:24875298 PMID:25741868 More... RGD:9685138 NCBI chr11:73,332,798...73,395,333
Ensembl chr11:73,334,248...73,395,150 		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 chr 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944 		JBrowse link
autosomal dominant nonsyndromic deafness 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISS OMIM:600652 MouseDO NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15015131 PMID:15845534 PMID:16222661 PMID:20533261 PMID:23967202 More... NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 4b		 OMIM
CTD
ClinVar		 PMID:7655461 PMID:21368133 PMID:24033266 PMID:25589040 PMID:25741868 More... NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:14676472 PMID:15173223 PMID:17576681 PMID:17868390 More... NCBI chr 4:79,258,799...79,321,129
Ensembl chr 4:79,257,804...79,320,806 		JBrowse link
autosomal dominant nonsyndromic deafness 50 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mir96 microRNA 96 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 50		 OMIM
CTD
ClinVar		 PMID:14757864 PMID:19363479 NCBI chr 4:58,788,411...58,788,516
Ensembl chr 4:58,788,411...58,788,516 		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 chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 5:78,497,660...78,735,873
Ensembl chr 5:78,498,300...78,730,666 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21681106 PMID:23936043 PMID:25741868 PMID:26467025 PMID:28492532 More... NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
G Tnfsf8 TNF superfamily member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 5:77,250,942...77,277,364
Ensembl chr 5:77,251,373...77,277,421 		JBrowse link
autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		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 chr12:33,070,221...33,073,904
Ensembl chr12:33,060,416...33,073,854 		JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 64
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21722859 PMID:25741868 PMID:28492532 NCBI chr12:33,055,784...33,070,401
Ensembl chr12:33,055,263...33,070,387 		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 chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 65
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:18414213 PMID:22277662 PMID:23526554 PMID:23806086 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741868 PMID:26197441 NCBI chr20:45,024,051...45,035,628
Ensembl chr20:45,023,973...45,035,634 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 67		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:25759012 PMID:28492532 NCBI chr 3:167,210,945...167,256,219
Ensembl chr 3:167,210,832...167,256,219 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 68		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:25816005 PMID:30047143 NCBI chr 1:135,558,977...135,659,780
Ensembl chr 1:135,567,414...135,659,772 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:25741868 PMID:26522471 PMID:28492532 PMID:33229591 NCBI chr 7:34,896,075...34,977,215
Ensembl chr 7:34,896,053...34,977,214 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 7		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:29754270 PMID:32840933 PMID:35711095 PMID:36140227 NCBI chr13:79,834,614...79,978,253
Ensembl chr13:79,835,019...79,978,253 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 70		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26196677 PMID:28492532 NCBI chr 4:121,346,434...121,360,962
Ensembl chr 4:121,346,434...121,360,847 		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 chr 8:54,741,164...54,884,948
Ensembl chr 8:54,741,160...54,885,161 		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 chr20:3,903,099...3,919,215
Ensembl chr20:3,903,099...3,919,215 		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 chr 7:42,834,455...43,016,807
Ensembl chr 7:42,837,109...43,016,917 		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 chr 4:85,300,858...85,777,948
Ensembl chr 4:85,300,858...85,863,219 		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 chr12:9,738,006...9,827,708
Ensembl chr12:9,738,006...9,827,674 		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 chr 8:96,316,703...96,426,592
Ensembl chr 8:96,317,849...96,385,195 		JBrowse link
autosomal dominant nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc1 ATP binding cassette subfamily C member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar		 PMID:31273342 NCBI chr10:528,961...655,179
Ensembl chr10:531,812...655,114 		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 chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440 		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 chr18:1,392,330...1,629,483
Ensembl chr18:1,392,725...1,628,067 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		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 chr 4:104,614,665...104,653,122
Ensembl chr 4:104,614,676...104,653,053 		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 chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665 		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 chr 2:30,817,261...30,910,458
Ensembl chr 2:30,817,261...30,910,317 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 84 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp11a ATPase phospholipid transporting 11A ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar
OMIM		 PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr16:76,657,752...76,767,640
Ensembl chr16:76,657,752...76,767,640 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 85 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Usp48 ubiquitin specific peptidase 48 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 85 OMIM
ClinVar		 PMID:25741868 PMID:34059922 NCBI chr 5:149,800,189...149,867,838
Ensembl chr 5:149,800,179...149,867,719 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thoc1 THO complex subunit 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 86 ClinVar
OMIM		 PMID:32776944 NCBI chr18:983,824...1,019,123
Ensembl chr18:983,824...1,019,114 		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 chr 2:182,540,377...182,572,684
Ensembl chr 2:182,540,567...182,588,488 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha10 EPH receptor A10 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 88 OMIM
ClinVar		 PMID:25741868 NCBI chr 5:137,139,588...137,175,637
Ensembl chr 5:137,140,735...137,174,157 		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 chr 4:93,912,068...93,914,163
Ensembl chr 4:93,912,068...93,914,154 		JBrowse link
autosomal dominant nonsyndromic deafness 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal dominant 9
OMIM:601369
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109 		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 chr17:84,543,465...84,759,562
Ensembl chr17:84,543,552...84,759,042 		JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:28492532 PMID:28951997 PMID:30303587 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Ankrd36 ankyrin repeat domain 36 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr14:80,451,699...80,568,458
Ensembl chr14:80,451,738...80,516,513 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISS OMIM:607197 MouseDO NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475 		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 chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:9536098 PMID:17576681 PMID:22981119 PMID:25741868 PMID:28492532 More... NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469 		JBrowse link
G Cdh23 cadherin-related 23 ISO DNA:missense mutations:multiple
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive		 ClinVar
RGD		 PMID:8894709 PMID:11090341 PMID:11138009 PMID:11857743 PMID:12075507 More... RGD:8662281 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		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 chr 8:54,930,265...54,947,157 JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		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 chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171 		JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 9:16,710,980...16,813,502
Ensembl chr 9:16,710,980...16,813,427 		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 chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
G Esrrb estrogen-related receptor beta ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:23967202 PMID:24033266 PMID:30303587 PMID:33524517 NCBI chr 6:106,007,701...106,163,136
Ensembl chr 6:106,008,095...106,160,791 		JBrowse link
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 7:8,374,941...8,383,281 JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:3 PMID:1511312 PMID:2104787 PMID:2706105 PMID:8789457 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		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 chr10:88,585,291...88,605,642
Ensembl chr10:88,586,299...88,605,625 		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 chr11:62,722,632...62,815,402
Ensembl chr11:62,723,872...62,815,435 		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 chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154 		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 chr14:40,004,169...40,126,571
Ensembl chr14:40,004,169...40,126,571 		JBrowse link
G Grxcr2 glutaredoxin and cysteine rich domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr18:33,984,689...33,998,094
Ensembl chr18:33,984,689...33,998,094 		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 chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760 		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 chr20:6,632,324...6,642,534
Ensembl chr20:6,632,362...6,642,532 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983 		JBrowse link
G Marveld2 MARVEL domain containing 2 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 2:31,742,652...31,764,150
Ensembl chr 2:31,657,220...31,764,150 		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 chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		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 chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:8900236 PMID:10094549 PMID:10425080 PMID:10447383 PMID:10930322 More... NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:23173898 PMID:24033266 PMID:28492532 PMID:30303587 NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435 		JBrowse link
G Otof otoferlin ISO DNA:missense mutation:cds:p.I318N (mouse)
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive		 ClinVar
RGD		 PMID:12525542 PMID:14635104 PMID:18381613 PMID:19250381 PMID:20301429 More... RGD:9479154 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB ClinVar PMID:25741868 PMID:28492532 PMID:31253780 NCBI chr 1:243,888,295...243,907,778
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:17301963 PMID:17718875 PMID:19888295 PMID:21696384 PMID:25741868 More... NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045 		JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797 		JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 7:42,834,455...43,016,807
Ensembl chr 7:42,837,109...43,016,917 		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 chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707 		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 chr 1:218,275,249...218,446,013
Ensembl chr 1:218,276,417...218,445,955 		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 chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803 		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 chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363 		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 chr 6:23,770,979...23,828,884
Ensembl chr 6:23,771,052...23,828,499 		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 chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Autosomal recessive non-syndromic sensorineural deafness type DFNB | ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10973247 PMID:10973248 PMID:11139240 PMID:12107438 PMID:12630964 More... NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		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 chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		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 chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223 		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 chr 9:98,315,220...98,394,537
Ensembl chr 9:98,315,252...98,390,814 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 101		 OMIM
CTD
ClinVar		 PMID:24619944 PMID:25741868 PMID:28492532 NCBI chr18:33,984,689...33,998,094
Ensembl chr18:33,984,689...33,998,094 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 102		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:24741995 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 103		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:24781754 PMID:25741868 PMID:28492532 NCBI chr 9:16,710,980...16,813,502
Ensembl chr 9:16,710,980...16,813,427 		JBrowse link
autosomal recessive nonsyndromic deafness 104 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 104 ClinVar PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24033266 PMID:24958875 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:40,323,748...40,547,482
Ensembl chr17:40,323,867...40,548,092 		JBrowse link
autosomal recessive nonsyndromic deafness 106 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eps8 EGFR pathway substrate 8, signaling adaptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:170,388,378...170,486,873
Ensembl chr 4:170,388,378...170,486,873 		JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 OMIM
ClinVar		 PMID:25741868 PMID:26282398 PMID:28281779 PMID:28492532 PMID:32747562 NCBI chr 1:196,446,260...196,471,544
Ensembl chr 1:196,446,287...196,471,541 		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 chr10:101,312,476...101,320,775
Ensembl chr10:101,312,446...101,320,736 		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 chr 5:114,744,311...115,088,155
Ensembl chr 5:114,744,304...115,088,155 		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 ClinVar
OMIM		 PMID:25741868 PMID:29107558 NCBI chr 5:24,427,611...24,482,157
Ensembl chr 5:24,428,717...24,482,062 		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 chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109 		JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dicer1 dicer 1 ribonuclease III ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111 ClinVar PMID:28492532 NCBI chr 6:123,627,529...123,692,278
Ensembl chr 6:123,631,250...123,693,965 		JBrowse link
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 More... NCBI chr 8:45,348,285...45,359,298
Ensembl chr 8:45,348,285...45,359,298 		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 chr 2:31,378,407...31,470,140
Ensembl chr 2:31,378,924...31,470,119 		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 chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871 		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 chr10:46,298,965...46,352,057
Ensembl chr10:46,332,909...46,352,056 		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 chr10:57,067,348...57,105,969
Ensembl chr10:57,066,897...57,105,957 		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 chr10:12,714,137...12,715,568 JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn2 clarin 2 ISO ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 OMIM
ClinVar		 PMID:25741868 PMID:33496845 PMID:38243601 NCBI chr14:65,656,029...65,666,325
Ensembl chr14:65,656,550...65,666,193 		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 chr 3:109,694,739...109,708,356
Ensembl chr 3:109,694,757...109,707,757 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 12 | ClinVar Annotator: match by term: Deafness, autosomal recessive 12, modifier of		 OMIM
CTD
ClinVar		 PMID:15829536 PMID:22047666 PMID:25741868 PMID:27535533 PMID:28492532 More... NCBI chr 4:146,894,602...147,208,060
Ensembl chr 4:146,896,332...147,140,665 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cdh23 cadherin-related 23 ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 12
OMIM:601386
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:24367894 PMID:25741868 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		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 chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:25741868 NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 120 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Minar2 membrane integral NOTCH2 associated receptor 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 OMIM
ClinVar		 PMID:35727972 NCBI chr18:52,539,714...52,554,465
Ensembl chr18:52,539,917...52,554,461 		JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chr10:43,774,113...43,919,718
Ensembl chr10:43,789,293...43,919,723 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 121 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 121 OMIM
ClinVar		 PMID:25741868 PMID:37814107 NCBI chr11:62,722,632...62,815,402
Ensembl chr11:62,723,872...62,815,435 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 122 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmtc4 transmembrane O-mannosyltransferase targeting cadherins 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 122 OMIM
ClinVar		 PMID:37943620 NCBI chr15:100,000,157...100,056,573
Ensembl chr15:100,000,152...100,056,543 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 123 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx4 syntaxin 4 ISO OMIM NCBI chr 1:182,451,108...182,459,701
Ensembl chr 1:182,451,117...182,459,979 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 124 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1l1 PKHD1 like 1 ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 124 ClinVar
OMIM		 PMID:38459354 NCBI chr 7:75,620,384...75,795,335
Ensembl chr 7:75,620,484...75,795,335 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9286457 PMID:17690910 PMID:21326233 PMID:21660509 PMID:24033266 More... NCBI chr 7:8,374,941...8,383,281 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 chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758 		JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 3:108,492,099...108,763,715
Ensembl chr 3:108,474,562...108,763,498 		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 chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 3:108,284,120...108,327,683
Ensembl chr 3:108,284,120...108,323,428 		JBrowse link
G Strc stereocilin ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition
OMIM:603720
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134 		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 chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO
ISS		 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A
OMIM:602092
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:8694458 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
autosomal recessive nonsyndromic deafness 18B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otog otogelin ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition
OMIM:614945
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More... NCBI chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415 		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 chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997 		JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,694,284...31,711,367
Ensembl chr15:31,694,292...31,711,336 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
OMIM:220290
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
G Gjb4 gap junction protein, beta 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:17259707 PMID:25333454 PMID:25741868 PMID:28492532 NCBI chr 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
OMIM:220290
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,671,337...31,688,833 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,717,016...31,807,723
Ensembl chr15:31,716,762...31,807,908 		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 chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997 		JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr15:31,694,284...31,711,367
Ensembl chr15:31,694,292...31,711,336 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810 		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 chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr15:31,671,337...31,688,833 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr15:31,717,016...31,807,723
Ensembl chr15:31,716,762...31,807,908 		JBrowse link
autosomal recessive nonsyndromic deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
OMIM:600060
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
autosomal recessive nonsyndromic deafness 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tecta tectorin alpha ISO 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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:9949200 PMID:11087000 PMID:12746400 PMID:17431902 More... NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707 		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 chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722 		JBrowse link
G Mettl9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 1:175,575,805...175,623,065
Ensembl chr 1:175,577,890...175,623,061 		JBrowse link
G Otoa otoancorin ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition
OMIM:607039
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 More... NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435 		JBrowse link
G Uqcrc2 ubiquinol cytochrome c reductase core protein 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 1:175,167,933...175,198,499
Ensembl chr 1:175,167,894...175,199,453 		JBrowse link
autosomal recessive nonsyndromic deafness 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 23
OMIM:609533
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17226784 PMID:19215054 PMID:24033266 PMID:25741868 PMID:26467025 More... NCBI chr 8:52,379,494...52,437,673
Ensembl chr 8:52,379,494...52,437,678 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 25		 OMIM
CTD
ClinVar		 PMID:16380907 PMID:20137774 PMID:20137778 PMID:24033266 PMID:25741868 More... NCBI chr14:40,004,169...40,126,571
Ensembl chr14:40,004,169...40,126,571 		JBrowse link
autosomal recessive nonsyndromic deafness 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gab1 GRB2-associated binding protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 26
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:11101839 PMID:25741868 PMID:29408807 NCBI chr19:27,131,262...27,239,236
Ensembl chr19:27,131,262...27,239,236 		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 chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition
OMIM:609823
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:16199547 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 More... NCBI chr 7:110,505,916...110,569,301
Ensembl chr 7:110,506,248...110,562,474 		JBrowse link
autosomal recessive nonsyndromic deafness 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn14 claudin 14 ISO
ISS		 OMIM:614035
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 29		 OMIM
MouseDO
CTD
ClinVar		 PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 More... NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171 		JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:23033978 PMID:24614104 PMID:25326669 PMID:25741868 PMID:26350204 More... NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Myo15a myosin XVA ISO
ISS		 ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 3 | ClinVar Annotator: match by term: MYO15A-related condition | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3
OMIM:600316
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 More... NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
autosomal recessive nonsyndromic deafness 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 30 | ClinVar Annotator: match by term: MYO3A-related condition
OMIM:607101
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:12032315 PMID:17344846 PMID:17576681 PMID:21165622 More... NCBI chr17:84,543,465...84,759,562
Ensembl chr17:84,543,552...84,759,042 		JBrowse link
autosomal recessive nonsyndromic deafness 31 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF
OMIM:607084
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:17576681 More... NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223 		JBrowse link
autosomal recessive nonsyndromic deafness 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc14a cell division cycle 14A ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 105 | ClinVar Annotator: match by term: Deafness, autosomal recessive 32
OMIM:608653		 CTD
ClinVar
MouseDO
OMIM		 PMID:12634867 PMID:24033266 PMID:25741868 PMID:27259055 PMID:28492532 More... NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 35		 OMIM
CTD
ClinVar		 PMID:12529709 PMID:18179891 PMID:22951369 PMID:23767834 PMID:24033266 More... NCBI chr 6:106,007,701...106,163,136
Ensembl chr 6:106,008,095...106,160,791 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9763424 PMID:15286153 PMID:15930085 PMID:18973245 PMID:24033266 More... NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
autosomal recessive nonsyndromic deafness 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo6 myosin VI ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition
OMIM:607821
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11167014 PMID:12687499 PMID:16199547 PMID:17576681 More... NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
autosomal recessive nonsyndromic deafness 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hgf hepatocyte growth factor ISO
ISS		 OMIM:608265
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 39
DNA:deletions,mutation:intron,exon:		 OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:8548545 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409 		JBrowse link
autosomal recessive nonsyndromic deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ceacam16 CEA cell adhesion molecule 16, tectorial membrane component ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr 1:79,514,975...79,524,871
Ensembl chr 1:79,514,975...79,524,871 		JBrowse link
G Foxi1 forkhead box I1 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:17503324 PMID:20621367 PMID:20809947 PMID:24860705 PMID:25741868 More... NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:19289823 PMID:19426954 PMID:20651251 PMID:20678478 PMID:20807765 More... NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct ClinVar PMID:21465660 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26602028 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		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
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | ClinVar Annotator: match by term: KCNJ10-Related Disorders | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
DNA:mutations:multiple (human)
DNA:transition:intron:g.IVS7-2A>G (human)
DNA:missense mutations, insertions, snp:multiple (human)		 OMIM
ClinVar
CTD
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7421508, RGD:7411671, RGD:7411556, RGD:7411543 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
autosomal recessive nonsyndromic deafness 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 42 | ClinVar Annotator: match by term: ILDR1-related condition
OMIM:609646
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:15641023 PMID:21255762 PMID:24033266 PMID:25668204 PMID:25741868 More... NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 44		 OMIM
CTD
ClinVar		 PMID:15583425 PMID:24033266 PMID:24482543 PMID:24824130 PMID:25741868 More... NCBI chr14:81,911,240...82,020,594
Ensembl chr14:81,911,099...82,028,969 		JBrowse link
autosomal recessive nonsyndromic deafness 48 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cib2 calcium and integrin binding family member 2 ISO
ISS		 OMIM:609439
ClinVar Annotator: match by term: Deafness, autosomal recessive 48
CTD Direct Evidence: marker/mechanism		 OMIM
MouseDO
ClinVar
CTD		 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 More... NCBI chr 8:54,930,265...54,947,157 JBrowse link
G Sh2d7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 48 ClinVar PMID:25741868 NCBI chr 8:54,918,399...54,930,129
Ensembl chr 8:54,918,406...54,929,726 		JBrowse link
autosomal recessive nonsyndromic deafness 49 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Marveld2 MARVEL domain containing 2 ISO
ISS		 OMIM:610153
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 49 | ClinVar Annotator: match by term: Deafness, neurosensory, autosomal recessive 49		 OMIM
MouseDO
CTD
ClinVar		 PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 More... NCBI chr 2:31,742,652...31,764,150
Ensembl chr 2:31,657,220...31,764,150 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 53		 OMIM
CTD
ClinVar		 PMID:10677296 PMID:15558753 PMID:16033917 PMID:21204229 PMID:22246659 More... NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		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 chr 1:243,888,295...243,907,778
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
autosomal recessive nonsyndromic deafness 59 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pjvk pejvakin ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 59
OMIM:610220
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 More... NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347 		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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:8593615 PMID:12145746 PMID:16389551 PMID:19438934 PMID:24033266 More... NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12239568 PMID:12719379 PMID:16086836 PMID:24033266 PMID:24164807 More... NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289 		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 chr 1:156,238,640...156,266,005
Ensembl chr 1:156,262,841...156,268,145 		JBrowse link
G Lrrc51 leucine rich repeat containing 51 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar PMID:24033266 PMID:25741868 NCBI chr 1:156,278,617...156,297,838
Ensembl chr 1:156,278,618...156,297,773 		JBrowse link
G Lrtomt leucine rich transmembrane and O-methyltransferase domain containing ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 63
OMIM:611451
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17211611 PMID:17576681 PMID:18794526 PMID:18953341 More... NCBI chr 1:156,266,655...156,268,704
Ensembl chr 1:156,266,655...156,268,704 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr 1:156,297,907...156,372,855
Ensembl chr 1:156,326,259...156,372,855 		JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2 doublecortin domain containing 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 66
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.Q424P (human)		 OMIM
ClinVar
CTD
RGD		 PMID:16199547 PMID:16244493 PMID:23677054 PMID:23746548 PMID:25557784 More... RGD:10412291 NCBI chr17:39,845,952...40,031,781
Ensembl chr17:39,845,952...40,030,743 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16459341 PMID:16752389 PMID:24033266 PMID:25741868 PMID:27148795 More... NCBI chr20:6,632,324...6,642,534
Ensembl chr20:6,632,362...6,642,532 		JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1pr2 sphingosine-1-phosphate receptor 2 ISO
ISS		 OMIM:610419
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 68		 OMIM
MouseDO
CTD
ClinVar		 PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26805784 More... NCBI chr 8:19,503,276...19,514,169
Ensembl chr 8:19,502,627...19,523,574 		JBrowse link
autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:35802133 PMID:36633841 NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435 		JBrowse link
G Tmc1 transmembrane channel-like 1 ISO
ISS		 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7
OMIM:600974
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11850618 PMID:16134132 PMID:16199547 PMID:16287143 More... NCBI chr 1:218,275,249...218,446,013
Ensembl chr 1:218,276,417...218,445,955 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11080643 PMID:23084290 PMID:23084291 PMID:24088041 PMID:25326635 More... NCBI chr14:102,877,553...102,908,696
Ensembl chr14:102,877,553...102,908,696 		JBrowse link
autosomal recessive nonsyndromic deafness 74 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msrb3 methionine sulfoxide reductase B3 ISO
ISS		 OMIM:613718
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 74		 OMIM
MouseDO
CTD
ClinVar		 PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chr 7:56,260,985...56,426,004
Ensembl chr 7:56,303,308...56,425,496 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 76		 OMIM
CTD
ClinVar		 PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 More... NCBI chr 1:85,569,409...85,573,775
Ensembl chr 1:85,569,545...85,573,760 		JBrowse link
autosomal recessive nonsyndromic deafness 77 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 77
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16936105 PMID:17576681 PMID:19732867 More... NCBI chr18:70,817,962...70,970,606
Ensembl chr18:70,818,276...70,969,983 		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 chr 3:8,070,904...8,071,732
Ensembl chr 3:8,070,914...8,071,867 		JBrowse link
G Tprn taperin ISO
ISS		 OMIM:613307
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 79		 OMIM
MouseDO
CTD
ClinVar		 PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:26969326 More... NCBI chr 3:8,076,164...8,083,642
Ensembl chr 3:8,075,137...8,083,642 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3285355 PMID:9536098 PMID:11137999 PMID:11424922 PMID:11462234 More... NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84		 OMIM
CTD
ClinVar		 PMID:20346435 PMID:25741868 PMID:26467025 NCBI chr 7:42,834,455...43,016,807
Ensembl chr 7:42,837,109...43,016,917 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23122586 PMID:23850727 More... NCBI chr 7:43,065,800...43,211,400
Ensembl chr 7:43,067,644...43,223,592 		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 chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 86
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:22211675 PMID:22277662 PMID:24033266 PMID:24387994 PMID:24729539 More... NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
autosomal recessive nonsyndromic deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elmod3 ELMO domain containing 3 ISO
ISS		 OMIM:615429
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 88		 OMIM
MouseDO
CTD
ClinVar		 PMID:24039609 PMID:25741868 PMID:28492532 NCBI chr 4:104,614,665...104,653,122
Ensembl chr 4:104,614,676...104,653,053 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24033266 More... NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632 		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 chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Cep135 centrosomal protein 135 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:28866084 NCBI chr14:31,530,538...31,595,812
Ensembl chr14:31,531,482...31,595,772 		JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
G H1f4 H1.4 linker histone, cluster member ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:25741868 PMID:28475857 NCBI chr17:41,486,574...41,487,355
Ensembl chr17:41,486,560...41,487,403 		JBrowse link
G Igsf6 immunoglobulin superfamily, member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:175,610,167...175,620,662
Ensembl chr 1:175,610,167...175,620,722 		JBrowse link
G Mettl9 methyltransferase 9, His-X-His N1(pi)-histidine ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:175,575,805...175,623,065
Ensembl chr 1:175,577,890...175,623,061 		JBrowse link
G Msh6 mutS homolog 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25326637 PMID:25741868 PMID:28492532 NCBI chr 6:6,562,631...6,579,995
Ensembl chr 6:6,562,632...6,579,956 		JBrowse link
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:26467025 PMID:28492532 PMID:29952689 PMID:30201499 PMID:33884488 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435 		JBrowse link
G Otof otoferlin ISO
ISS		 ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder | ClinVar Annotator: match by term: Auditory neuropathy, autosomal recessive, 1 | ClinVar Annotator: match by term: Deafness, autosomal recessive 9 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9 | ClinVar Annotator: match by term: OTOF-related condition
OMIM:601071
CTD Direct Evidence: marker/mechanism
DNA:duplication:cds:c.1981dupG (human)
DNA:missense mutation:cds:p.D1767G (mouse)
DNA:missense mutation:cds:p.R1939Q (human)
DNA:snps, deletion:cds:multiple (human)
associated with Fever;DNA:missense mutation, deletion:p.R1157Q, c.5410_5412delGAG (human)
DNA:missense mutation:cds:p.L1011P (human)
DNA:snp:intron:IVS8-2A>G (human)
DNA:nonsense mutation:cds:p.Q829X (human)
DNA:nonsense mutation:cds:p.Y730X (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:8789454 PMID:9536098 PMID:9657592 PMID:10192385 PMID:10878664 More... RGD:9585724, RGD:9491826, RGD:9491826, RGD:9491386, RGD:9479161, RGD:9479157, RGD:737640, RGD:9479156, RGD:9479153 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
G Plp1 proteolipid protein 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:100,184,039...100,201,035
Ensembl chr  X:100,185,767...100,201,032 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:100,220,897...100,231,591
Ensembl chr  X:100,220,894...100,231,701 		JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 PMID:27082237 PMID:28492532 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232 		JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:27068579 PMID:28492532 NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:18381613 PMID:25008054 PMID:28492532 PMID:33111345 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707 		JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:24706558 PMID:24850488 PMID:24974158 PMID:25168210 PMID:25356970 More... NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
autosomal recessive nonsyndromic deafness 91 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinb6a serpin family B member 6A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 91		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:17576681 PMID:20451170 PMID:24033266 PMID:25741868 More... NCBI chr17:30,871,468...30,989,703
Ensembl chr17:30,871,468...31,014,427 		JBrowse link
autosomal recessive nonsyndromic deafness 93 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cabp2 calcium binding protein 2 ISO
ISS		 ClinVar Annotator: match by term: Deafness, autosomal recessive 93
OMIM:614899
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:17576681 PMID:22981119 PMID:24033266 PMID:25741868 More... NCBI chr 1:201,374,649...201,380,469
Ensembl chr 1:201,375,276...201,380,469 		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 chr 1:151,300,446...151,412,086
Ensembl chr 1:151,300,467...151,413,521 		JBrowse link
autosomal recessive nonsyndromic deafness 97 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 97		 CTD
OMIM
ClinVar		 PMID:12920089 PMID:19318576 PMID:19723643 PMID:20139696 PMID:21774103 More... NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krtap10-1 keratin associated protein 10-1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:25741868 NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362 		JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 98		 OMIM
CTD
ClinVar		 PMID:22678063 PMID:24033266 PMID:25741868 PMID:25855803 PMID:26467025 More... NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914 		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 chr10:67,330,863...67,386,790
Ensembl chr10:67,330,751...67,386,789 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome		 OMIM
CTD
ClinVar		 PMID:25205112 PMID:25741868 PMID:28492532 PMID:30018422 NCBI chr 5:145,576,341...145,629,630
Ensembl chr 5:145,576,334...145,629,624 		JBrowse link
autosomal-mitochondrial sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Deafness, sensorineural, autosomal-mitochondrial type ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		JBrowse link
Ayme-Gripp syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Ayme-Gripp syndrome | ClinVar Annotator: match by term: Ayme-gripp syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8834052 PMID:8867660 PMID:12072800 PMID:17935251 PMID:25064449 More... NCBI chr19:43,353,867...43,713,162
Ensembl chr19:43,360,342...43,712,365 		JBrowse link
Bart-Pumphrey syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Bart-Pumphrey syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.N54K(human)		 OMIM
ClinVar
CTD
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:7364821 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
Bartter disease type 4A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO
ISS		 ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A
OMIM:602522
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B		 OMIM
CTD
ClinVar		 PMID:15044642 PMID:18310267 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartter disease type 4B		 OMIM
CTD
ClinVar		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		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 chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370 		JBrowse link
Bjornstad syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcs1l BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone ISO ClinVar Annotator: match by term: Bjornstad syndrome with mild mitochondrial complex III deficiency | ClinVar Annotator: match by term: Pili torti-deafness syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 More... NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938 		JBrowse link
Brown-Vialetto-Van Laere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc52a2 solute carrier family 52 member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pontobulbar palsy and neurosensory deafness		 CTD
ClinVar		 PMID:22718020 PMID:24033266 PMID:25741868 PMID:26072523 PMID:27702554 More... NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096 		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 chr 3:140,709,984...140,756,757
Ensembl chr 3:140,709,991...140,756,696 		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 chr 3:140,789,079...140,806,017
Ensembl chr 3:140,789,080...140,806,005 		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 chr 3:140,581,336...140,595,273
Ensembl chr 3:140,581,593...140,593,299 		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 chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034 		JBrowse link
G Slc52a3 solute carrier family 52 member 3 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 OMIM
ClinVar		 PMID:2020633 PMID:9536098 PMID:16122634 PMID:16199547 PMID:17576681 More... NCBI chr 3:140,498,924...140,515,845
Ensembl chr 3:140,509,473...140,514,096 		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 chr 3:140,604,490...140,610,050
Ensembl chr 3:140,599,608...140,628,448 		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 chr 3:140,768,537...140,787,010
Ensembl chr 3:140,768,537...140,785,121 		JBrowse link
G Tcf15 transcription factor 15 ISO ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1 ClinVar PMID:20206331 PMID:22824638 PMID:24239381 PMID:25462087 PMID:28492532 NCBI chr 3:140,638,984...140,644,766
Ensembl chr 3:140,638,984...140,644,766 		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 chr 7:108,301,623...108,319,439
Ensembl chr 7:108,301,415...108,319,436 		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 chr 7:108,172,062...108,195,875
Ensembl chr 7:108,172,066...108,195,931 		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 chr 7:107,693,572...107,695,375
Ensembl chr 7:107,693,574...107,695,375 		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 chr 7:108,319,429...108,330,018
Ensembl chr 7:108,319,434...108,329,934 		JBrowse link
G Cyc1 cytochrome c-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 chr 7:108,067,106...108,069,483
Ensembl chr 7:108,067,115...108,069,479 		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 chr 7:108,223,860...108,235,413
Ensembl chr 7:108,218,524...108,234,299 		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 chr 7:107,581,930...107,596,735
Ensembl chr 7:107,581,930...107,608,799 		JBrowse link
G Eppk1 epiplakin 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 chr 7:107,816,919...107,842,946
Ensembl chr 7:107,817,693...107,831,159 		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 chr 7:108,047,831...108,050,573
Ensembl chr 7:108,047,831...108,050,573 		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 chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672 		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 chr 7:108,259,097...108,262,528
Ensembl chr 7:108,257,160...108,262,513 		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 chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049 		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 chr 7:107,612,087...107,617,005
Ensembl chr 7:107,612,094...107,616,948 		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 chr 7:107,325,584...107,330,911
Ensembl chr 7:107,325,607...107,330,907 		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 chr 7:108,051,896...108,055,479
Ensembl chr 7:108,051,861...108,055,484 		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 chr 7:107,285,584...107,288,702
Ensembl chr 7:107,285,654...107,288,702 		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 chr 7:107,962,194...107,965,372
Ensembl chr 7:107,962,207...107,965,366 		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 chr 7:107,542,489...107,547,051
Ensembl chr 7:107,542,083...107,547,055 		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 chr 7:108,091,918...108,094,740
Ensembl chr 7:108,091,951...108,094,737 		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 chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011 		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 chr 7:108,380,634...108,388,364
Ensembl chr 7:108,376,011...108,388,484 		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 chr 7:108,075,173...108,078,252
Ensembl chr 7:108,075,189...108,078,249 		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 chr 7:107,432,292...107,435,084
Ensembl chr 7:107,433,605...107,434,690 		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 chr 7:107,694,907...107,714,640
Ensembl chr 7:107,694,964...107,714,645 		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 chr 7:108,098,708...108,172,146
Ensembl chr 7:108,102,734...108,172,146 		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 chr 7:107,566,212...107,576,469
Ensembl chr 7:107,569,554...107,574,173 		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 chr 7:107,576,645...107,580,102
Ensembl chr 7:107,576,627...107,580,102 		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 chr 7:107,798,642...107,805,225
Ensembl chr 7:107,799,497...107,805,230 		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 chr 7:108,011,472...108,051,751
Ensembl chr 7:108,011,475...108,035,297 		JBrowse link
G Parp10 poly (ADP-ribose) polymerase family, member 10 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 chr 7:107,949,031...107,958,377
Ensembl chr 7:107,949,043...107,958,304 		JBrowse link
G Plec 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 chr 7:107,887,764...107,949,100
Ensembl chr 7:107,887,764...107,945,467 		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 chr 7:107,782,799...107,793,759
Ensembl chr 7:107,782,770...107,794,531 		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 chr 7:107,603,543...107,608,831
Ensembl chr 7:107,581,930...107,608,799 		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 chr 7:107,391,948...107,402,713
Ensembl chr 7:107,391,984...107,402,713 		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 chr 7:107,759,343...107,782,364
Ensembl chr 7:107,759,343...107,782,331 		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 chr 7:108,240,986...108,244,636
Ensembl chr 7:108,240,986...108,244,636 		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 chr 7:108,176,608...108,178,626
Ensembl chr 7:108,176,608...108,178,626 		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 chr 7:108,070,681...108,075,012
Ensembl chr 7:108,070,687...108,074,955 		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 chr 7:108,333,368...108,337,553
Ensembl chr 7:108,333,381...108,337,553 		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 chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034 		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 chr 7:107,980,857...108,007,716
Ensembl chr 7:107,983,796...108,007,479 		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 chr 7:107,596,724...107,599,243
Ensembl chr 7:107,596,724...107,599,243 		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 chr 7:108,256,535...108,259,429
Ensembl chr 7:108,257,160...108,262,513 		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 chr 7:108,345,704...108,360,792
Ensembl chr 7:108,346,047...108,360,750 		JBrowse link
G Top1mt DNA topoisomerase I 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 chr 7:107,338,092...107,368,125
Ensembl chr 7:107,342,527...107,366,049 		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 chr 7:108,341,989...108,345,837
Ensembl chr 7:108,341,989...108,345,837 		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 chr 7:107,440,694...107,525,451
Ensembl chr 7:107,440,694...107,525,451 		JBrowse link
G Zfp41 zinc finger protein 41 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 chr 7:107,307,303...107,320,164
Ensembl chr 7:107,306,867...107,320,270 		JBrowse link
G Zfp623 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 chr 7:107,627,334...107,636,254
Ensembl chr 7:107,627,267...107,636,321 		JBrowse link
G Zfp707 zinc finger protein 707 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 chr 7:107,679,597...107,686,556
Ensembl chr 7:107,650,217...107,703,459 		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 chr 7:108,363,989...108,377,428
Ensembl chr 7:108,364,381...108,380,021 		JBrowse link
CAPOS Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp1a3 ATPase Na+/K+ transporting subunit alpha 3 ISO DNA:missense mutation:exon:p.E818K (c.2452G>A) (human)
ClinVar Annotator: match by term: 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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:8733056 PMID:15260953 PMID:18414213 PMID:18675996 PMID:19652145 More... RGD:11576280 NCBI chr 1:80,572,790...80,601,936
Ensembl chr 1:80,572,796...80,601,918 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		 OMIM
CTD
ClinVar		 PMID:8409271 PMID:25130867 PMID:25741868 PMID:28328135 PMID:28492532 More... NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501 		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 chr 2:135,292,291...135,385,942
Ensembl chr 2:135,294,906...135,385,947 		JBrowse link
G Rfc1 replication factor C subunit 1 ISO DNA:repeats:intron:(AAGGG)n (human)
ClinVar Annotator: match by term: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
DNA:repeat:intron:
DNA:repeat:intron: 		OMIM
ClinVar
RGD		 PMID:25741868 PMID:35883251 PMID:36478048 PMID:35970061 PMID:32040566 More... RGD:401940162, RGD:41404728, RGD:41404727 NCBI chr14:42,966,279...43,041,372
Ensembl chr14:42,966,324...43,041,370 		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 chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925 		JBrowse link
G Pmp22 peripheral myelin protein 22 ISO
ISS		 OMIM:118300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease and deafness | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E		 OMIM
MouseDO
CTD
ClinVar		 PMID:7139106 PMID:7829101 PMID:8995589 PMID:9324088 PMID:9544841 More... NCBI chr10:47,795,709...47,825,715
Ensembl chr10:47,795,709...47,825,714 		JBrowse link
Charcot-Marie-Tooth disease type 2J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, Type 2, with hearing loss and pupillary abnormalities
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8664899 PMID:8816708 PMID:9187667 PMID:9452091 PMID:10071056 More... NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3856385 PMID:7887410 PMID:15693857 PMID:20362274 PMID:20652413 More... NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		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 chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17701900 PMID:20301731 PMID:24033266 PMID:24285972 PMID:25182139 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		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 chr 2:196,296,350...196,326,914
Ensembl chr 2:196,296,393...196,326,913 		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
CTD Direct Evidence: marker/mechanism
DNA:deletion, transversion mutations:cds,splice junction:c.1471delG,c.741delC,c.1661C>A,c.1062+1G>T (human);		 OMIM
ClinVar
CTD
RGD		 PMID:10449658 PMID:20602914 PMID:21348867 PMID:22578326 PMID:22987632 More... RGD:11062393 NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154 		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 IEP RGD PMID:29304389 RGD:13792837 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 IEP RGD PMID:29304389 RGD:13792837 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18818194 NCBI chr 6:25,221,668...25,236,241
Ensembl chr 6:25,222,896...25,236,244 		JBrowse link
G Pcdh15 protocadherin related 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10978835 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Slc17a8 solute carrier family 17 member 8 IEP RGD PMID:21215254 RGD:9999192 NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079 		JBrowse link
G Syp synaptophysin ISO RGD PMID:12429223 RGD:11554034 NCBI chr  X:14,849,444...14,864,553
Ensembl chr  X:14,849,444...14,864,745 		JBrowse link
G Tnf tumor necrosis factor IEP RGD PMID:29304389 RGD:13792837 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome		 OMIM
CTD
ClinVar		 PMID:10835633 PMID:12780757 PMID:16199547 PMID:16394081 PMID:16940453 More... NCBI chr 3:9,026,432...9,035,122
Ensembl chr 3:9,027,425...9,034,480 		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 CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 More... NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187 		JBrowse link
corneal dystrophy-perceptive deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal dystrophy and sensorineural deafness | ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:16767101 PMID:16825429 PMID:17220209 PMID:17397048 More... NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674 		JBrowse link
craniofacial-deafness-hand syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:6859126 PMID:8589691 PMID:8664898 PMID:8863157 PMID:9584079 More... NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		JBrowse link
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:9382091 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		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 chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429 		JBrowse link
De Hauwere syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities ClinVar PMID:25741868 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		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 chr  X:97,722,796...97,762,315
Ensembl chr  X:97,722,802...97,761,853 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO DNA:mutation:intron:IVS1-23A>C(human)
ClinVar Annotator: match by term: Deafness dystonia syndrome
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:116delT(Q38fsX64)(human)
DNA:deletion:cds:108delG(human)		 ClinVar
CTD
OMIM
RGD		 PMID:8841189 PMID:10878669 PMID:11405816 PMID:11601506 PMID:11803487 More... RGD:13209130, RGD:13209136, RGD:13209134 NCBI chr  X:97,717,932...97,722,170
Ensembl chr  X:97,717,920...97,721,960 		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 chr 8:107,500,856...107,551,595
Ensembl chr 8:107,548,352...107,551,438 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10769282 PMID:11159937 PMID:15735644 PMID:16199547 More... NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8651253 PMID:9536098 PMID:9916796 PMID:12414817 PMID:12566520 More... NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:10973252 PMID:12414817 PMID:16611712 PMID:17576681 More... NCBI chr 4:66,760,163...66,842,126
Ensembl chr 4:66,760,159...66,842,110 		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
RGD		 PMID:25741868 PMID:28492532 PMID:35738466 PMID:17409310 RGD:13208934 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
G Tmem213 transmembrane protein 213 ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar NCBI chr 4:66,825,040...66,831,070 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OPA1-related optic atrophy with or without extraocular features | ClinVar Annotator: match by term: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY | ClinVar Annotator: match by term: Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy		 CTD
OMIM
ClinVar		 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109 		JBrowse link
Donnai-Barrow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbrd1 LMBR1 domain containing 1 ISO ClinVar Annotator: match by term: Donnai-Barrow syndrome ClinVar PMID:19136951 PMID:25741868 PMID:28492532 NCBI chr 9:27,096,387...27,178,095
Ensembl chr 9:27,096,297...27,178,090 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO
ISS		 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:222448
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		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 chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		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 chr13:84,729,597...84,754,544
Ensembl chr13:84,729,601...84,754,544 		JBrowse link
G Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:84,770,348...84,781,534
Ensembl chr13:84,770,279...84,778,576 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO
ISS		 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:612780
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... RGD:8662866 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr13:84,780,826...84,787,928
Ensembl chr13:84,779,741...84,787,928 		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 ISS OMIM:600791 MouseDO NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epidermolysis bullosa simplex 7, with nephropathy and deafness		 OMIM
CTD
ClinVar		 PMID:15265795 PMID:25741868 PMID:25741871 PMID:28492532 NCBI chr 1:196,564,744...196,568,753
Ensembl chr 1:196,565,181...196,568,753 		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 chr10:83,411,197...83,435,078
Ensembl chr10:83,411,313...83,435,078 		JBrowse link
Griscelli syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab27a RAB27A, member RAS oncogene family ISO ClinVar Annotator: match by term: Griscelli syndrome ClinVar PMID:10835631 PMID:12148598 PMID:16551969 PMID:18350256 PMID:19953648 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829 		JBrowse link
Griscelli syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo5a myosin VA ISO
ISS		 OMIM:214450
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: Griscelli syndrome, cutaneous and neurologic type		 OMIM
MouseDO
CTD
ClinVar		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918 		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 chr 8:73,719,960...73,752,437
Ensembl chr 8:73,719,955...73,752,430 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 8:73,715,383...73,719,849
Ensembl chr 8:73,715,383...73,719,849 		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 chr 8:73,751,756...73,775,679
Ensembl chr 8:73,751,798...73,775,679 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8319705 PMID:9536098 PMID:10835631 PMID:12058346 PMID:12148598 More... NCBI chr 8:73,782,730...73,836,630
Ensembl chr 8:73,782,694...73,847,829 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12148598 PMID:12897212 PMID:21883982 PMID:22711375 PMID:25741868 More... NCBI chr 9:91,507,410...91,542,984
Ensembl chr 9:91,507,591...91,542,983 		JBrowse link
G Myo5a myosin VA ISO ClinVar Annotator: match by term: Griscelli syndrome type 3 ClinVar PMID:12148598 PMID:12897212 PMID:22711375 PMID:25283056 NCBI chr 8:75,811,985...75,980,049
Ensembl chr 8:75,812,412...75,975,918 		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 chr14:104,201,894...104,371,415
Ensembl chr14:104,201,895...104,371,386 		JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha treatment IEP RGD PMID:23558232 RGD:9685025 NCBI chr18:54,378,642...54,441,120
Ensembl chr18:54,378,784...54,438,994 		JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II beta treatment IEP RGD PMID:23558232 RGD:9685025 NCBI chr14:80,845,206...80,934,172
Ensembl chr14:80,845,238...80,933,994 		JBrowse link
G Cat catalase IEP protein:decreased expression:cochlear: RGD PMID:10220857 RGD:9197256 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898482 NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment ISO RGD PMID:19666099 RGD:10045579 NCBI chr11:62,498,997...62,648,665
Ensembl chr11:62,504,316...62,648,646 		JBrowse link
G Tpmt thiopurine S-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898482 NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709 		JBrowse link
Hearing Loss, Noise-Induced term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arc activity-regulated cytoskeleton-associated protein IEP RGD PMID:17275194 RGD:8655559 NCBI chr 7:106,555,968...106,559,697
Ensembl chr 7:106,555,785...106,559,378 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO
IEP		 protein:increased expression:cochlea: RGD PMID:19925854 PMID:22723694 PMID:17275194 RGD:8636263, RGD:8655575, RGD:8655559 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Calb1 calbindin 1 IEP RGD PMID:22428005 RGD:401940127 NCBI chr 5:29,375,624...29,402,532
Ensembl chr 5:29,375,642...29,402,431 		JBrowse link
G Cat catalase susceptibility
severity
treatment		 ISO DNA:SNPs,haplotype:: RGD PMID:17567781 PMID:18212468 PMID:23179931 RGD:9068906, RGD:9190810, RGD:9068923 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:cochlea (mouse) RGD PMID:17081714 RGD:8549464 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:17075702 RGD:8657356 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cdh23 cadherin-related 23 no_association ISO DNA:SNPs: :rs1227049, rs3802711 (human)
DNA:SNPs: :rs1227049, rs1227051 (human)		 RGD PMID:16598924 PMID:16598924 RGD:8662283, RGD:8662283 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO RGD PMID:21187137 RGD:8661793 NCBI chr20:7,149,177...7,159,727
Ensembl chr20:7,149,217...7,159,585 		JBrowse link
G Cfi complement factor I IEP mRNA:increased expression:spiral organ of cochlea, sensory epithelium RGD PMID:23727008 RGD:8662317 NCBI chr 2:218,389,079...218,430,565
Ensembl chr 2:218,387,990...218,430,561 		JBrowse link
G Cntn1 contactin 1 IEP RGD PMID:22044737 RGD:5685697 NCBI chr 7:123,263,146...123,560,896
Ensembl chr 7:123,372,792...123,558,541 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 IEP RGD PMID:22428005 RGD:401940127 NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
G Gad1 glutamate decarboxylase 1 IEP RGD PMID:22428005 RGD:401940127 NCBI chr 3:55,369,704...55,410,335
Ensembl chr 3:55,369,704...55,410,333 		JBrowse link
G Gap43 growth associated protein 43 IEP RGD PMID:22428005 RGD:401940127 NCBI chr11:58,376,371...58,470,047
Ensembl chr11:58,376,371...58,470,045 		JBrowse link
G Gjb2 gap junction protein, beta 2 IEP protein:increased expression:cochlea: RGD PMID:15224875 RGD:7349367 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association		 ISO DNA:deletion, haplotype:cds (human)
DNA:deletion:cds (human)		 RGD PMID:19643173 PMID:16535824 RGD:7488956, RGD:7495798 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association		 ISO DNA:deletion:cds (human) RGD PMID:16535824 PMID:15811702 RGD:7495798, RGD:7794850 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha treatment ISO RGD PMID:21787680 RGD:8695948 NCBI chr 6:92,624,059...92,669,262
Ensembl chr 6:92,624,390...92,669,261 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:SNP, haplotype: :rs1043618 (human) RGD PMID:17009596 RGD:8662466 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO DNA:SNP, haplotype: :rs1061581 (human) RGD PMID:18813331 RGD:8662841 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:SNP, haplotype: :rs2227956 (human) RGD PMID:17009596 RGD:8662466 NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571 		JBrowse link
G Icam1 intercellular adhesion molecule 1 IMP RGD PMID:19213042 RGD:8547577 NCBI chr 8:19,553,063...19,565,438
Ensembl chr 8:19,553,645...19,565,438 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:16585854 RGD:8549455 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il6 interleukin 6 IEP RGD PMID:16429448 RGD:7829818 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Kcne1 potassium voltage-gated channel subfamily E regulatory subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noise induced hearing loss		 CTD
ClinVar		 PMID:7828904 PMID:9445165 PMID:12402336 PMID:14661677 PMID:14760488 More... NCBI chr11:31,580,951...31,594,116
Ensembl chr11:31,580,742...31,593,901 		JBrowse link
G Kcnq1 potassium voltage-gated channel subfamily Q member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823764 NCBI chr 1:198,291,711...198,624,683
Ensembl chr 1:198,291,766...198,624,669 		JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823764 NCBI chr 5:134,275,145...134,326,992
Ensembl chr 5:134,275,934...134,326,932 		JBrowse link
G Mir107 microRNA 107 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 1:232,337,767...232,337,853
Ensembl chr 1:232,337,767...232,337,853 		JBrowse link
G Mir10a microRNA 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr10:81,283,171...81,283,280
Ensembl chr10:81,283,171...81,283,280 		JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr11:83,880,163...83,880,244
Ensembl chr11:83,880,163...83,880,244 		JBrowse link
G Mir146b microRNA 146b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 1:245,203,438...245,203,525
Ensembl chr 1:245,203,438...245,203,525 		JBrowse link
G Mir183 microRNA 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 4:58,788,614...58,788,723
Ensembl chr 4:58,788,614...58,788,723 		JBrowse link
G Mir186 microRNA 186 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 2:246,582,806...246,582,891
Ensembl chr 2:246,582,806...246,582,891 		JBrowse link
G Mir190b microRNA 190b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 2:175,514,800...175,514,877
Ensembl chr 2:175,514,800...175,514,877 		JBrowse link
G Mir200c microRNA 200c ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 4:157,523,679...157,523,747 JBrowse link
G Mir30d microRNA 30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 7:100,136,391...100,136,472
Ensembl chr 7:100,136,391...100,136,472 		JBrowse link
G Mir30e microRNA 30e ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 5:134,352,232...134,352,323
Ensembl chr 5:134,352,232...134,352,323 		JBrowse link
G Mir331 microRNA 331 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 7:28,527,390...28,527,485
Ensembl chr 7:28,527,390...28,527,485 		JBrowse link
G Mir339 microRNA 339 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr12:15,277,546...15,277,641
Ensembl chr12:15,277,546...15,277,641 		JBrowse link
G Mir381 microRNA 381 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 6:128,740,976...128,741,036 JBrowse link
G Mir429 microRNA 429 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543 		JBrowse link
G Mir532 microRNA 532 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr  X:15,247,315...15,247,393
Ensembl chr  X:15,247,315...15,247,393 		JBrowse link
G Mir99b microRNA 99b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 1:58,677,015...58,677,084
Ensembl chr 1:58,677,011...58,677,090 		JBrowse link
G Mmp7 matrix metallopeptidase 7 ISO RGD PMID:23100416 RGD:9685340 NCBI chr 8:4,848,186...4,855,908
Ensembl chr 8:4,848,186...4,855,902 		JBrowse link
G Nob1 NIN1 (RPN12) binding protein 1 homolog IEP mRNA:increased expression:cochlea RGD PMID:21219967 RGD:10766449 NCBI chr19:35,322,803...35,335,354
Ensembl chr19:35,322,669...35,346,815 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:exon:p.S326C (rs1052133) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:24599382 PMID:24599382 RGD:8657374 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Pon2 paraoxonase 2 susceptibility ISO DNA:SNPs: :multiple RGD PMID:23327886 RGD:8661240 NCBI chr 4:33,389,702...33,425,186
Ensembl chr 4:33,389,714...33,425,248 		JBrowse link
G Proc protein C, inactivator of coagulation factors Va and VIIIa treatment ISO RGD PMID:25108045 RGD:11100045 NCBI chr18:23,764,367...23,774,816
Ensembl chr18:23,764,368...23,775,133 		JBrowse link
G Ptger4 prostaglandin E receptor 4 resistance ISO RGD PMID:22198478 RGD:6483524 NCBI chr 2:54,330,563...54,347,451
Ensembl chr 2:54,335,424...54,346,670 		JBrowse link
G Sell selectin L IEP RGD PMID:22044737 RGD:5685697 NCBI chr13:76,416,969...76,436,444
Ensembl chr13:76,416,915...76,436,456 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO mRNA, protein:increased expression:cochlea (mouse) RGD PMID:24376553 RGD:9585684 NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289 		JBrowse link
G Sod1 superoxide dismutase 1 susceptibility
severity		 ISO DNA:snps, haplotypes:introns:multiple (human)
DNA:snps:introns:IVS2+193T>G (rs10432782), IVS3-251A>G (rs2070424) (human)		 RGD PMID:19895330 PMID:10436316 PMID:22931816 RGD:8655611, RGD:8655966, RGD:8655851 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO DNA:polymorphisms:intron:IVS3-23T>G, IVS3-60T>G (human)
DNA:SNP:cds:p.V16A(rs4880)(human)		 RGD PMID:15345661 PMID:20534900 RGD:8158044, RGD:8158046 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:21840347 RGD:11554196 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476 		JBrowse link
G Taok1 TAO kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr10:62,373,072...62,465,295
Ensembl chr10:62,381,404...62,465,766 		JBrowse link
G Tnf tumor necrosis factor IEP mRNA:increased expression:cochlea: RGD PMID:19051071 RGD:7394705 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		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 chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
HID Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: HID SYNDROME | ClinVar Annotator: match by term: Hystrix-like ichthyosis with deafness
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
high myopia-sensorineural deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slitrk6 SLIT and NTRK-like family, member 6 ISO
ISS		 OMIM:221200
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome		 OMIM
MouseDO
CTD
ClinVar		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393 		JBrowse link
High-Frequency Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnf tumor necrosis factor ISO RGD PMID:23996384 RGD:7394699 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:9545394 PMID:16118898 PMID:16155931 PMID:16199547 More... NCBI chr20:28,645,265...28,685,388
Ensembl chr20:28,647,391...28,685,388 		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 chr 5:21,812,007...21,995,358
Ensembl chr 5:21,812,070...21,995,358 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:29300383 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088 		JBrowse link
G Puf60 poly-U binding splicing factor 60 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:25741868 PMID:29300383 NCBI chr 7:107,782,799...107,793,759
Ensembl chr 7:107,782,770...107,794,531 		JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:9536098 PMID:15235037 PMID:17576681 PMID:25741868 PMID:25985275 More... NCBI chr 4:20,297,534...20,555,287
Ensembl chr 4:20,299,718...20,555,229 		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 chr17:74,903,936...74,909,977
Ensembl chr17:74,903,177...74,905,811 		JBrowse link
G Akr1c1 aldo-keto reductase family 1, member C1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:65,810,474...65,837,385
Ensembl chr17:65,810,475...65,837,326 		JBrowse link
G Akr1c2 aldo-keto reductase family 1, member C2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:65,759,778...65,808,013
Ensembl chr17:65,759,788...65,775,764 		JBrowse link
G Akr1c3 aldo-keto reductase family 1, member C3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,110,970...66,127,867
Ensembl chr17:66,110,963...66,127,873 		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 chr17:65,735,909...65,750,441
Ensembl chr17:65,735,943...65,750,441 		JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,735,325...66,748,533
Ensembl chr17:66,737,261...66,748,533 		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 chr17:77,955,864...77,979,895
Ensembl chr17:77,955,818...77,979,854 		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 chr17:66,564,653...66,583,365
Ensembl chr17:66,562,434...66,583,337 		JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:68,423,927...68,446,169
Ensembl chr17:68,423,909...68,608,367 		JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,483,212...73,566,221
Ensembl chr17:73,485,282...73,567,559 		JBrowse link
G C1ql3 complement C1q like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,119,344...76,129,170
Ensembl chr17:76,119,447...76,128,530 		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 chr17:77,564,630...77,910,000
Ensembl chr17:77,564,460...77,909,106 		JBrowse link
G Calml3 calmodulin-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,419,844...66,423,083
Ensembl chr17:66,419,882...66,423,175 		JBrowse link
G Calml5 calmodulin-like 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,394,433...66,395,352 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 chr17:72,581,899...72,982,704
Ensembl chr17:72,581,979...72,980,556 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,031,891...73,135,173
Ensembl chr17:73,035,045...73,135,337 		JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,459,270...72,503,316
Ensembl chr17:72,459,282...72,503,316 		JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,714,564...74,728,639
Ensembl chr17:74,713,564...74,728,639 		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 chr17:70,904,462...71,729,072
Ensembl chr17:71,210,853...71,728,333 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,385,046...76,593,133
Ensembl chr17:76,385,060...76,593,231 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186 		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 chr17:72,355,201...72,406,725
Ensembl chr17:72,355,201...72,406,723 		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 chr17:72,070,697...72,093,519
Ensembl chr17:72,070,668...72,093,516 		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 chr17:74,478,608...74,685,027
Ensembl chr17:74,478,608...74,684,989 		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 chr17:75,024,582...75,148,348
Ensembl chr17:75,024,575...75,150,255 		JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,749,506...66,787,590
Ensembl chr17:66,749,534...66,787,590 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,667,787...74,258,487
Ensembl chr17:73,667,789...74,258,687 		JBrowse link
G Gata3 GATA binding protein 3 ISO
ISS		 ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome
OMIM:146255
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10935639 PMID:11389161 PMID:14985365 PMID:15705923 More... NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,649,616...66,676,299
Ensembl chr17:66,649,619...66,676,366 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,081,508...77,106,114
Ensembl chr17:77,083,740...77,106,073 		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 chr17:74,728,945...74,749,727
Ensembl chr17:74,728,899...74,749,727 		JBrowse link
G Il15ra interleukin 15 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,802,300...66,831,973
Ensembl chr17:66,802,334...66,832,278 		JBrowse link
G Il2ra interleukin 2 receptor subunit alpha ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,849,974...66,898,665
Ensembl chr17:66,849,974...66,898,697 		JBrowse link
G Itga8 integrin subunit alpha 8 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:75,304,004...75,501,510
Ensembl chr17:75,304,008...75,501,510 		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 chr17:68,375,574...68,411,849
Ensembl chr17:68,375,567...68,411,841 		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 chr17:68,248,115...68,352,216
Ensembl chr17:68,252,128...68,352,207 		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 chr17:68,413,483...68,431,392
Ensembl chr17:68,413,486...68,423,845 		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 chr17:73,263,788...73,288,346
Ensembl chr17:73,266,095...73,287,364 		JBrowse link
G Meig1 meiosis/spermiogenesis associated 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,810,791...74,828,433
Ensembl chr17:74,814,632...74,828,433 		JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:75,545,286...75,623,884
Ensembl chr17:75,545,286...75,623,854 		JBrowse link
G Net1 neuroepithelial cell transforming 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,341,251...66,370,445
Ensembl chr17:66,340,728...66,370,441 		JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,917,833...74,964,788
Ensembl chr17:74,917,833...74,961,080 		JBrowse link
G Nsun6 NOP2/Sun RNA methyltransferase 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,912,374...77,955,694
Ensembl chr17:77,912,377...77,950,006 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,435,690...72,459,008
Ensembl chr17:72,435,697...72,459,001 		JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,877,651...74,902,517
Ensembl chr17:74,877,655...74,902,518 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251 		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 chr17:66,983,629...67,064,702
Ensembl chr17:66,983,686...67,063,125 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,329,461...73,346,359
Ensembl chr17:73,329,082...73,346,409 		JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:67,246,394...67,379,049
Ensembl chr17:67,246,394...67,378,704 		JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,151,961...72,187,524
Ensembl chr17:72,151,872...72,185,825 		JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,630,560...73,661,210
Ensembl chr17:73,630,571...73,690,979 		JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,058,388...76,119,633
Ensembl chr17:76,058,503...76,119,627 		JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,937,140...66,954,034
Ensembl chr17:66,937,140...66,954,014 		JBrowse link
G Rpp38 ribonuclease P/MRP subunit p38 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,914,066...74,917,742
Ensembl chr17:74,908,932...74,927,431 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,128,774...76,377,515
Ensembl chr17:76,188,812...76,377,454 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:72,407,574...72,445,630
Ensembl chr17:72,407,671...72,434,494 		JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,354,435...73,382,803
Ensembl chr17:73,356,530...73,382,593 		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 chr17:67,934,296...68,128,905
Ensembl chr17:67,935,904...68,128,781 		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 chr17:77,353,761...77,440,384
Ensembl chr17:77,353,805...77,440,353 		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 chr17:76,740,755...76,884,178
Ensembl chr17:76,745,224...76,884,299 		JBrowse link
G Stam signal transducing adaptor molecule ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:77,120,235...77,166,173
Ensembl chr17:77,120,158...77,166,467 		JBrowse link
G Suv39h2 SUV39H2 histone lysine methyltransferase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:74,756,290...74,775,332
Ensembl chr17:74,756,306...74,775,332 		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 chr17:68,455,389...68,608,367
Ensembl chr17:68,423,909...68,608,367 		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 chr17:66,583,554...66,650,127
Ensembl chr17:66,594,908...66,649,135 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,601,966...76,646,104
Ensembl chr17:76,610,543...76,645,439 		JBrowse link
G Tubal3 tubulin, alpha-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,323,733...66,332,423
Ensembl chr17:66,323,733...66,335,355 		JBrowse link
G Ucma upper zone of growth plate and cartilage matrix associated ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:73,293,977...73,303,709
Ensembl chr17:73,293,978...73,303,611 		JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:66,309,748...66,315,996
Ensembl chr17:66,309,371...66,315,990 		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 chr17:72,224,575...72,335,896
Ensembl chr17:72,225,316...72,335,855 		JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:71,828,433...71,956,878
Ensembl chr17:71,830,469...71,956,027 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr17:76,668,701...76,677,186
Ensembl chr17:76,668,647...76,677,187 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8857020 PMID:14684690 PMID:15769976 PMID:18317720 PMID:19240240 More... NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO
ISS		 ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
OMIM:243800
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
DNA:splice-site mutation:cds:IVS26+5G>A (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More... RGD:155882463, RGD:155882462 NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204 		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 chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO
ISS		 DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Kabuki syndrome | ClinVar Annotator: match by term: Niikawa-Kuroki syndrome
OMIM:147920 | OMIM:300867
DNA:mutations:cds:
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:2071175 PMID:3067577 PMID:3913813 PMID:9285441 PMID:9536098 More... RGD:9588235, RGD:155582217 NCBI chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		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 chr10:10,346,538...10,356,768
Ensembl chr10:10,346,536...10,356,750 		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 chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124 		JBrowse link
G Hcfc1 host cell factor C1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chr  X:151,687,779...151,712,688
Ensembl chr  X:151,687,779...151,712,638 		JBrowse link
G Kdm6a lysine demethylase 6A ISO ClinVar Annotator: match by term: KMT2D-related condition | ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:11261516 PMID:19370762 PMID:23076834 PMID:23913813 PMID:24728327 More... NCBI chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:29255178 NCBI chr 8:45,116,763...45,193,320
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Kmt2b lysine methyltransferase 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:29255178 NCBI chr 1:85,821,700...85,840,987
Ensembl chr 1:85,821,753...85,841,326 		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 chr 7:129,980,744...130,022,088
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
G Ptcd1 pentatricopeptide repeat domain 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 1 ClinVar PMID:20818383 PMID:25741868 NCBI chr12:9,445,656...9,463,434
Ensembl chr12:9,445,714...9,463,508 		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 chr20:44,943,302...44,965,329
Ensembl chr20:44,947,297...44,963,963 		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 chr  X:2,396,260...2,432,828
Ensembl chr  X:2,393,874...2,432,840 		JBrowse link
G Dipk2b divergent protein kinase domain 2B ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:4,205,486...4,274,939
Ensembl chr  X:4,205,490...4,271,574 		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 chr  X:4,488,021...4,488,877
Ensembl chr  X:4,488,021...4,488,877 		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 chr  X:5,360,499...5,564,004
Ensembl chr  X:5,360,617...5,560,970 		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 chr  X:5,083,635...5,100,293
Ensembl chr  X:5,083,617...5,100,284 		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 chr  X:4,337,466...4,477,100
Ensembl chr  X:4,337,750...4,477,062 		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 chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593 		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 chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003 		JBrowse link
G Mir221 microRNA 221 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:3,429,465...3,429,573
Ensembl chr  X:3,429,465...3,429,573 		JBrowse link
G Mir222 microRNA 222 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006 		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 chr  X:5,796,487...5,820,934
Ensembl chr  X:5,796,487...5,820,934 		JBrowse link
G Rp2 RP2 activator of ARL3 GTPase ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:1,872,582...1,916,704
Ensembl chr  X:1,873,306...1,916,688 		JBrowse link
G Slc9a7 solute carrier family 9 member A7 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr  X:2,214,064...2,395,052
Ensembl chr  X:2,214,441...2,388,012 		JBrowse link
G Zfp455l1 zinc finger protein 455 like 1 ISO ClinVar Annotator: match by term: Kabuki syndrome 2 ClinVar PMID:25972376 NCBI chr 1:34,866,934...34,944,939
Ensembl chr 1:34,927,303...34,944,121 		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 C12h12orf43 similar to human chromosome 12 open reading frame 43 ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr12:41,672,089...41,677,722
Ensembl chr12:41,672,114...41,677,714 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr12:41,638,536...41,672,806
Ensembl chr12:41,645,587...41,672,104 		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 chr 1:134,223,967...134,247,232
Ensembl chr 1:134,223,949...134,246,970 		JBrowse link
Kilquist Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12 member 2 ISO ClinVar Annotator: match by term: Kilquist syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30740830 PMID:32658972 PMID:32754646 NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440 		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 chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		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 DNA:SNP:splice junction:
ClinVar Annotator: match by term: Deafness, myopia, cataract, saddle nose-Marshall type | ClinVar Annotator: match by term: Marshall syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9129742 PMID:9529347 PMID:9536098 PMID:9792885 PMID:10486316 More... RGD:1600881 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:30,103,728...30,119,307
Ensembl chr18:30,103,728...30,119,307 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:30,131,627...30,155,686
Ensembl chr18:30,131,691...30,155,685 		JBrowse link
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 NCBI chr 2:201,432,769...201,457,015
Ensembl chr 2:201,432,684...201,456,747 		JBrowse link
Marshall/Stickler Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		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 chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Aqp4 aquaporin 4 susceptibility ISO protein:decreased expression:macula of utricle of membranous labyrinth:
DNA:conservative mutation:cds:c.105G>C(human)		 RGD PMID:20461409 PMID:21063116 RGD:8696022, RGD:8696023 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:18429043 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 PMID:25741868 PMID:28492532 NCBI chr18:14,687,193...14,944,232
Ensembl chr18:14,587,852...14,944,261 		JBrowse link
G Fam136a family with sequence similarity 136, member A ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25305078 NCBI chr 4:118,805,129...118,811,046
Ensembl chr 4:118,805,127...118,811,047 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A susceptibility ISO DNA:SNP: :190G>C(human) RGD PMID:19241595 RGD:7257654 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human) RGD PMID:23484733 RGD:7387223 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		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 chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		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 chr 1:96,746,336...96,815,416
Ensembl chr 1:96,746,336...96,815,415 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 PMID:28492532 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		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 chr 2:191,366,761...191,414,782
Ensembl chr 2:191,366,808...191,414,779 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO DNA:polymorphisms:cds:HLA-B44 (human, South Korean) RGD PMID:12542204 RGD:7364921 NCBI chr20:3,314,830...3,318,106 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: : HLA-DRB1*15(human) RGD PMID:12542204 RGD:7364921 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Shroom2 shroom family member 2 ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:25741868 NCBI chr  X:21,812,469...21,983,724
Ensembl chr  X:21,812,469...21,984,153 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Meniere disease ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707 		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 chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:29681094 More... NCBI chr 6:61,329,810...61,391,736
Ensembl chr 6:61,329,810...61,391,734 		JBrowse link
mitochondrial nonsyndromic sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:127819 PMID:1322638 PMID:1634041 PMID:1732158 PMID:6213205 More... NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694 		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 chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome OMIM
ClinVar		 PMID:25741868 PMID:32403198 PMID:35869884 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		JBrowse link
MYH-9 related disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh9 myosin, heavy chain 9 ISO
ISS		 DNA:missense mutation:exon:p.R702H(human)
ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: Sebastian platelet syndrome
OMIM:155100
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.R702C(mouse)
DNA:mutation:exon:p.E1841K(human)
DNA:missense mutations:exons:multiple		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... RGD:6902926, RGD:11533924, RGD:11532766, RGD:6903235 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Tubb1 tubulin, beta 1 class VI ISO ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss ClinVar PMID:25741868 NCBI chr 3:163,247,990...163,257,460
Ensembl chr 3:163,247,967...163,256,063 		JBrowse link
Nonsyndromic Sensorineural Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109 		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 chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976 		JBrowse link
G Gja1 gap junction protein, alpha 1 ISO DNA:mutations:cds:c.30C>T,c.71T>G(human) RGD PMID:11741837 RGD:1578475 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss
DNA:missense mutations,deletion:cds:
DNA:misssense mutations,deletion:cds:
DNA:mutations:cds:c.35delG,p.W24X(human)
DNA:mutations:cds:c.235delC,p.Y136X,P.R143W(human)		 ClinVar
RGD		 PMID:10376574 PMID:11102979 PMID:11216656 PMID:11313763 PMID:11493200 More... RGD:7364796, RGD:7364892, RGD:7364888, RGD:7364883, RGD:7364823, RGD:7364817, RGD:7364812, RGD:7364803, RGD:7364798 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Gjb3 gap junction protein, beta 3 no_association ISO DNA:nonsense mutation, missense mutation:cds:p.A180X, p.Q183K (human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant
DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human)
DNA:missense mutations:cds:p.N166S, p.A194T (human)		 ClinVar
RGD		 PMID:9843210 PMID:15276679 PMID:19050930 RGD:1300214, RGD:12050154, RGD:7364900 NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
G Gjb6 gap junction protein, beta 6 no_association ISO DNA:mutations:multiple:
DNA:del::GJB6-D13S1854(human)
DNA:del:cds:del(GJB6-D13S1830)		 RGD PMID:23554706 PMID:21227513 PMID:22186156 PMID:23668481 PMID:20022641 RGD:7364803, RGD:7364892, RGD:7364891, RGD:7364817, RGD:7364812 NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:mutation:cds:p.R705H(human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant		 ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:11023810 RGD:11533925 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chr 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944 		JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr17:84,543,465...84,759,562
Ensembl chr17:84,543,552...84,759,042 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:23804846 PMID:25741868 PMID:26226137 PMID:28492532 PMID:30029624 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) RGD PMID:23084290 RGD:11554169 NCBI chr14:102,877,553...102,908,696
Ensembl chr14:102,877,553...102,908,696 		JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:28492532 NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975 		JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO DNA:snp:intron:IVS2-2A>G (human) RGD PMID:23554706 RGD:7364803 NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707 		JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:221,709,745...221,838,291
Ensembl chr 1:221,709,745...221,838,295 		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 chr 1:218,275,249...218,446,013
Ensembl chr 1:218,276,417...218,445,955 		JBrowse link
G Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 susceptibility ISO DNA:SNP:exon:rs35725509(human) RGD PMID:27311106 RGD:11252147 NCBI chr 7:40,392,377...40,806,685
Ensembl chr 7:40,394,220...40,807,298 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:28492532 PMID:30029624 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More... NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
ocular albinism with sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanocyte inducing transcription factor ISS MouseDO NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		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 chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		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 chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G Bmp2 bone morphogenetic protein 2 susceptibility ISO DNA:SNP:3'UTR:rs3178250(human) RGD PMID:18021008 RGD:8698669 NCBI chr 3:120,812,660...120,822,579
Ensembl chr 3:120,812,882...120,821,397 		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 chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Col1a1 collagen type I alpha 1 chain susceptibility ISO DNA:snps, haplotypes:multiple (human) RGD PMID:17489845 RGD:8552658 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 susceptibility ISO DNA:polymorphisms:cds:HLA-B*35, HLA-B*51 (human, Tunisian) RGD PMID:22471616 RGD:7364875 NCBI chr20:3,314,830...3,318,106 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 PMID:23639864 RGD:8157627, RGD:8157627 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		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 chr19:49,197,269...49,200,682
Ensembl chr19:49,197,400...49,198,425 		JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO
ISS		 OMIM:215150
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive
DNA:missense mutation:exon:p.G175R (human)		 OMIM
MouseDO
CTD
ClinVar
RGD		 PMID:7859284 PMID:9188673 PMID:9536098 PMID:10677296 PMID:15558753 More... RGD:12904710 NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive		 CTD
ClinVar		 PMID:16189708 PMID:25326635 PMID:25741868 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
palmoplantar keratoderma-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1 desmoglein 1 ISO ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma ClinVar PMID:25741868 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Keratoderma palmoplantar, with deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma and sensorineural deafness | ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.G130V(human)
DNA:misense mutation:cds:c.224G>A (p.R75Q)(human)
DNA:mutation:cds:p.H73R(human)
DNA:missense mutation:cds:p.S183F(human)		 OMIM
ClinVar
CTD
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... RGD:11097846, RGD:11568636, RGD:7364819, RGD:7364814 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO ClinVar Annotator: match by term: Palmoplantar keratoderma-deafness syndrome ClinVar PMID:127819 PMID:6213205 PMID:7219534 PMID:7987332 PMID:8019558 More... NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867 		JBrowse link
Paragangliomas with Sensorineural Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 8:50,944,702...50,954,298
Ensembl chr 8:50,944,704...50,954,238 		JBrowse link
Pendred syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 PMID:35802133 PMID:36633841 NCBI chr10:12,714,137...12,715,568 JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
G Foxi1 forkhead box I1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:274600
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome		 CTD
MouseDO
ClinVar		 PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:18,806,292...18,810,231
Ensembl chr10:18,806,308...18,810,231 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome		 CTD
ClinVar		 PMID:19289823 PMID:20651251 PMID:20678478 PMID:20807765 PMID:21088294 More... NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:24033266 PMID:28492532 PMID:30311386 PMID:30718709 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO
ISS		 ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 2B | ClinVar Annotator: match by term: Pendred syndrome | ClinVar Annotator: match by term: SLC26A4-related condition
OMIM:274600
CTD Direct Evidence: marker/mechanism
DNA:mutations:multiple (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1920407 PMID:2422447 PMID:8285825 PMID:8541853 PMID:8630498 More... RGD:7421514, RGD:7421510, RGD:7411554 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
Perrault Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:30311386 NCBI chr 9:1,831,680...1,837,700
Ensembl chr 9:1,830,311...1,837,693 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fshr follicle stimulating hormone receptor ISO ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:5,198,825...5,406,785
Ensembl chr 6:5,198,825...5,406,785 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: HSD17B4-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Perrault syndrome 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4061497 PMID:9482850 PMID:9536098 PMID:9915948 PMID:10419023 More... NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416 		JBrowse link
Presbycusis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr10:105,619,738...105,622,587
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
G Actg1l1 actin, gamma 1 like 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr 3:72,977,767...72,979,691
Ensembl chr10:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232
Ensembl chr 3:105,619,737...105,624,232 		JBrowse link
G Aqp4 aquaporin 4 severity ISO RGD PMID:19070604 RGD:8695953 NCBI chr18:6,507,903...6,524,558
Ensembl chr18:6,507,903...6,524,856 		JBrowse link
G Bdnf brain-derived neurotrophic factor IEP mRNA:decreased expression:cochlea RGD PMID:17168119 RGD:8655551 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		JBrowse link
G Cacna1d calcium voltage-gated channel subunit alpha1 D ISO mRNA, protein:decreased expression:cochlea RGD PMID:23470431 RGD:10045570 NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215 		JBrowse link
G Cat catalase ISO RGD PMID:11678164 RGD:8655636 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cdh23 cadherin-related 23 no_association ISO DNA:SNP:intron:g.72996763C>T (rs7087735) (human) RGD PMID:12910270 PMID:22581638 RGD:737781, RGD:8662287 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Edn1 endothelin 1 susceptibility ISO DNA:missense mutation:cds:p.L198N (rs5370) (human) RGD PMID:19358249 RGD:8661662 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association		 ISO DNA:deletion:cds (human) RGD PMID:17513527 PMID:15891640 RGD:7495801, RGD:7495803 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association		 ISO DNA:deletion:cds (human) RGD PMID:22965834 PMID:15891640 RGD:7794838, RGD:7495803 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Hspb1 heat shock protein family B (small) member 1 ISO RGD PMID:24587312 RGD:10402574 NCBI chr12:20,794,014...20,795,675
Ensembl chr12:20,794,028...20,795,743 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO RGD PMID:22652460 RGD:8662870 NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725 		JBrowse link
G Nat2 N-acetyltransferase 2 susceptibility ISO DNA:polymorphism: : RGD PMID:16369173 RGD:8552649 NCBI chr16:22,207,362...22,238,513
Ensembl chr16:22,208,194...22,238,520 		JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO RGD PMID:21664445 RGD:8694161 NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Sirt3 sirtuin 3 IEP protein:decreased expression:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chr 1:195,942,066...195,964,472
Ensembl chr 1:195,942,073...195,964,808 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 IEP protein:altered expression:cochlear outer hair cell (rat) RGD PMID:19111601 RGD:9585690 NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289 		JBrowse link
G Sod1 superoxide dismutase 1 severity ISO mRNA:increased expression:cochlea (mouse) RGD PMID:11678164 PMID:10464373 RGD:8655636, RGD:8655665 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		JBrowse link
G Sod2 superoxide dismutase 2 IEP protein:decreased expression,decreased activity:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO DNA:mutation:cds:c.533C>T (p.S178L)(human) RGD PMID:24729539 RGD:11537394 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		JBrowse link
G Tyr tyrosinase treatment
onset		 ISO associated with Albinism; RGD PMID:19843244 PMID:19141317 RGD:8694324, RGD:8694327 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		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 chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:21569298 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223 		JBrowse link
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction OMIM
ClinVar		 PMID:8279480 PMID:17486094 PMID:21378381 PMID:24741716 PMID:25741868 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome		 CTD
ClinVar		 PMID:19344877 PMID:24033266 PMID:25741868 NCBI chr 3:108,368,654...108,389,380
Ensembl chr 3:108,368,668...108,388,050 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:108,329,859...108,335,760
Ensembl chr 3:108,330,705...108,335,758 		JBrowse link
G Pdia3 protein disulfide isomerase family A, member 3 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:108,388,189...108,412,013
Ensembl chr 3:108,388,245...108,413,236 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 3:108,284,120...108,327,683
Ensembl chr 3:108,284,120...108,323,428 		JBrowse link
G Strc stereocilin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness-infertility syndrome		 CTD
ClinVar		 PMID:18414213 PMID:21078986 PMID:22147502 PMID:24033266 PMID:25157971 More... NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134 		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 chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
Sensorineural Deafness with Mild Renal Dysfunction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Sensorineural deafness with mild renal dysfunction ClinVar PMID:11687798 PMID:19646679 PMID:21541222 PMID:25741868 PMID:28492532 More... NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571 		JBrowse link
sensorineural hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:16685646 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
G Adprs ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 5:138,614,022...138,619,296
Ensembl chr 5:138,614,022...138,619,296 		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 chr18:60,954,268...60,999,110
Ensembl chr18:60,954,268...60,999,110 		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 chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:17454231 RGD:7771593 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Atp1b1 ATPase Na+/K+ transporting subunit beta 1 IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr13:76,786,580...76,807,096
Ensembl chr13:76,786,578...76,807,459 		JBrowse link
G Bcap31 B-cell receptor-associated protein 31 ISO DNA:mutation, deletion:exon:p.Q33X (human) RGD PMID:24011989 RGD:7483567 NCBI chr  X:151,397,567...151,429,666
Ensembl chr  X:151,397,576...151,428,506 		JBrowse link
G Bdnf brain-derived neurotrophic factor ISO mRNA,protein:increased expression:inferior colliculus: RGD PMID:20598895 RGD:8655560 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615 		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 chr 6:132,034,378...132,081,313
Ensembl chr 6:132,037,272...132,081,278 		JBrowse link
G Bsnd barttin CLCNK type accessory subunit beta ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon RGD PMID:11687798 RGD:1600603 NCBI chr 5:121,251,774...121,260,571
Ensembl chr 5:121,251,774...121,260,571 		JBrowse link
G Carmil1 capping protein regulator and myosin 1 linker 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr17:40,807,921...41,088,326
Ensembl chr17:40,808,389...41,088,326 		JBrowse link
G Cat catalase IEP RGD PMID:15109710 RGD:8547516 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Cdc14a cell division cycle 14A ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 2:204,225,540...204,380,927
Ensembl chr 2:204,225,540...204,380,927 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:22899989 PMID:25741868 PMID:25963016 PMID:28492532 PMID:30303587 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 NCBI chr 1:213,246,183...213,275,275
Ensembl chr 1:213,246,187...213,275,181 		JBrowse link
G Clcn3 chloride voltage-gated channel 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr16:29,127,152...29,200,133
Ensembl chr16:29,127,419...29,200,119 		JBrowse link
G Clcnka chloride voltage-gated channel Ka ISO Bartter syndrome type 4, OMIM:602522, C80W
ClinVar Annotator: match by term: Sensorineural hearing loss disorder		 ClinVar
RGD		 PMID:25741868 PMID:15044642 RGD:1300378 NCBI chr 5:153,691,208...153,706,295
Ensembl chr 5:153,691,209...153,706,148 		JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr11:33,232,281...33,329,440
Ensembl chr11:33,232,220...33,329,171 		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 chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109 		JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chr 2:201,820,715...202,013,853
Ensembl chr 2:201,820,715...202,013,853 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural hearing loss disorder		 CTD
ClinVar		 PMID:16637051 PMID:25741868 NCBI chr20:4,786,932...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:16189708 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural hearing loss disorder		 CTD
ClinVar		 PMID:16909383 PMID:25741868 NCBI chr 9:26,585,034...26,668,222
Ensembl chr 9:26,585,034...26,668,213 		JBrowse link
G Col9a3 collagen type IX alpha 3 chain ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:167,711,776...167,734,468
Ensembl chr 3:167,711,840...167,734,465 		JBrowse link
G Cox18 cytochrome c oxidase assembly factor COX18 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr14:17,864,581...17,877,483
Ensembl chr14:17,865,857...17,877,480 		JBrowse link
G Dbh dopamine beta-hydroxylase ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 3:10,488,260...10,505,245
Ensembl chr 3:10,488,260...10,505,248 		JBrowse link
G Diaph1 diaphanous-related formin 1 susceptibility ISO autosomal dominant nonsyndromic sensorineural deafness 1, OMIM:124900;DNA:splice-site mutation RGD PMID:9360932 RGD:1601058 NCBI chr18:29,669,659...29,769,070
Ensembl chr18:29,669,659...29,769,172 		JBrowse link
G Dpt dermatopontin ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr13:77,123,224...77,151,646
Ensembl chr13:77,123,115...77,151,639 		JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093 		JBrowse link
G Ednrb endothelin receptor type B IAGP DNA:mutation:cds: RGD PMID:21915282 RGD:6480217 NCBI chr15:80,640,839...80,672,115
Ensembl chr15:80,643,043...80,672,115 		JBrowse link
G Ednrbsl endothelin receptor type B, spotting lethal IAGP RGD PMID:21915282 RGD:6480217
G Ercc6 ERCC excision repair 6, chromatin remodeling factor ISO RGD PMID:25762674 RGD:11567237 NCBI chr16:7,764,983...7,835,587
Ensembl chr16:7,765,013...7,835,587 		JBrowse link
G Ercc8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit ISO associated with Cockayne Syndrome RGD PMID:25762674 RGD:11567237 NCBI chr 2:39,647,393...39,686,229
Ensembl chr 2:39,647,452...39,684,859 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO DNA:deletion:introns, exon (human) RGD PMID:15735644 RGD:1598455 NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976 		JBrowse link
G F2 coagulation factor II, thrombin no_association ISO DNA:transition: :20210G>A (human)
associated with Stroke
DNA:transition: :20210G>A(human)		 RGD PMID:17334320 PMID:18636032 PMID:16572609 RGD:7387261, RGD:7387268, RGD:7387240 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486 		JBrowse link
G F5 coagulation factor V no_association ISO DNA:mutation
DNA:transition: :1691G>A (human)
DNA:SNP: :1691G>A (human)		 RGD PMID:16015153 PMID:17334320 PMID:16572609 RGD:7387260, RGD:7387261, RGD:7387240 NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317 		JBrowse link
G Fadd Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:30311386 PMID:34652575 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:13,058,506...13,115,406
Ensembl chr 9:13,058,476...13,114,879 		JBrowse link
G Gab1 GRB2-associated binding protein 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr19:27,131,262...27,239,236
Ensembl chr19:27,131,262...27,239,236 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
G Gabrr2 gamma-aminobutyric acid type A receptor subunit rho 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 5:47,445,280...47,489,929
Ensembl chr 5:47,452,150...47,489,809 		JBrowse link
G Gas2 growth arrest-specific 2 ISS MouseDO NCBI chr 1:101,452,361...101,582,619
Ensembl chr 1:101,482,591...101,582,619 		JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 RGD PMID:10935639 RGD:1358706 NCBI chr17:68,643,760...68,666,000
Ensembl chr17:68,643,873...68,665,391 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:32403198 NCBI chr17:51,263,262...51,282,471
Ensembl chr17:51,263,263...51,276,220 		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 chr 7:8,374,941...8,383,281 JBrowse link
G Gjb2 gap junction protein, beta 2 IEP
ISO		 protein:increased expression:cochlea:
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... RGD:7349365 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant, with peripheral neuropathy		 CTD
ClinVar		 PMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 PMID:19197336 More... NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		JBrowse link
G Gjc3 gap junction protein, gamma 3 ISO RGD PMID:16481432 RGD:1578421 NCBI chr12:16,899,846...16,912,309
Ensembl chr12:16,896,813...16,964,246 		JBrowse link
G Gpsm2 G-protein signaling modulator 2 ISO DNA:nonsense mutation:exon:c.1684C>T(p.Q562X(human)
DNA:nonsense mutation:cds:p.R127X(human)		 RGD PMID:21348867 PMID:20602914 RGD:11552574, RGD:11552577 NCBI chr 2:196,327,149...196,375,322
Ensembl chr 2:196,327,149...196,375,154 		JBrowse link
G Grhl2 grainyhead-like transcription factor 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 7:68,400,287...68,530,269
Ensembl chr 7:68,400,477...68,530,258 		JBrowse link
G Gsdme gasdermin E ISO DNA:deletion:intron
ClinVar Annotator: match by term: Sensorineural hearing loss disorder		 ClinVar
RGD		 PMID:25741868 PMID:9771715 RGD:1599770 NCBI chr 4:79,258,799...79,321,129
Ensembl chr 4:79,257,804...79,320,806 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747 		JBrowse link
G Ifng interferon gamma ISO associated with Hearing Loss, Sensorineural;protein:increased expression:serum: RGD PMID:15937357 PMID:19684145 RGD:7987908, RGD:8142347 NCBI chr 7:53,903,339...53,907,375
Ensembl chr 7:53,903,337...53,907,375 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:9693304 RGD:8662926 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:21255762 PMID:25741868 PMID:28492532 NCBI chr11:64,085,774...64,118,760
Ensembl chr11:64,008,566...64,118,760 		JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318 		JBrowse link
G Itga2 integrin subunit alpha 2 ISO DNA:snp:cds:c.807C>T (rs1126643) (human) RGD PMID:22948415 RGD:8686432 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 PMID:28496994 More... NCBI chr19:39,957,846...39,976,837
Ensembl chr19:39,957,846...39,977,632 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr13:84,802,026...84,835,383
Ensembl chr13:84,802,009...84,835,461 		JBrowse link
G Kcnq4 potassium voltage-gated channel subfamily Q member 4 ISO autosomal dominant non-syndromic sensorineural deafness 2, OMIM:600101
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment		 ClinVar
RGD		 PMID:19461658 PMID:27081546 PMID:30311386 PMID:34652575 PMID:10369879 RGD:1600303 NCBI chr 5:134,275,145...134,326,992
Ensembl chr 5:134,275,934...134,326,932 		JBrowse link
G Kl Klotho ISO RGD PMID:21167925 RGD:10403058 NCBI chr12:490,402...531,417
Ensembl chr12:490,399...530,080 		JBrowse link
G Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr18:34,201,555...34,256,003
Ensembl chr18:34,201,549...34,255,931 		JBrowse link
G Lmx1a LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:29971487 NCBI chr13:79,834,614...79,978,253
Ensembl chr13:79,835,019...79,978,253 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Mbl2 mannose binding lectin 2 susceptibility ISO DNA:SNP:cds: RGD PMID:23246423 RGD:8693695 NCBI chr 1:228,016,439...228,024,736 JBrowse link
G Mitf melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:8659547 PMID:20127975 PMID:20478267 PMID:22320238 PMID:24194866 More... NCBI chr 4:130,409,020...130,621,145
Ensembl chr 4:130,409,217...130,621,145 		JBrowse link
G Mrps7 mitochondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr10:100,843,691...100,846,838
Ensembl chr10:100,843,356...100,847,129 		JBrowse link
G Mt-cyb mitochondrially encoded cytochrome b ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28027978 NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
NCBI chr MT:14,136...15,278
Ensembl chr MT:14,136...15,278 		JBrowse link
G Myh14 myosin heavy chain 14 ISO DFNA4, OMIM:600652, DNA:point mutation:exon:S7X
ClinVar Annotator: match by term: Sensorineural hearing loss disorder		 ClinVar
RGD		 PMID:25741868 PMID:15015131 RGD:1600531 NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836 		JBrowse link
G Myh9 myosin, heavy chain 9 disease_progression ISO associated with MYH9-Related Disorders;DNA:mutations:cds: RGD PMID:26226608 RGD:11533922 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457 		JBrowse link
G Myo15a myosin XVA ISO DFNB3, OMIM:600316, DNA:point mutation:exon:I892F
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment		 ClinVar
RGD		 PMID:9536098 PMID:17546645 PMID:17576681 PMID:24033266 PMID:24875298 More... RGD:1600554 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G Myo1a myosin IA ISO DFNA48, OMIM:607841 RGD PMID:12736868 RGD:1600218 NCBI chr 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944 		JBrowse link
G Myo1f myosin IF ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 7:14,363,340...14,413,911
Ensembl chr 7:14,363,350...14,413,911 		JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:12032315 PMID:23990876 PMID:25741868 PMID:28492532 PMID:32006683 More... NCBI chr17:84,543,465...84,759,562
Ensembl chr17:84,543,552...84,759,042 		JBrowse link
G Myo6 myosin VI ISO DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y RGD PMID:11468689 RGD:1600556 NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
G Myo7a myosin VIIA ISO DNA:missense mutation:exon:c.5660C>T (p.P1887L) (human)
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder		 ClinVar
RGD		 PMID:16449806 PMID:19461658 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:8694138 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 1:151,300,446...151,412,086
Ensembl chr 1:151,300,467...151,413,521 		JBrowse link
G Ncoa3 nuclear receptor coactivator 3 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:30311386 PMID:33326993 PMID:34652575 NCBI chr 3:154,738,566...154,821,395
Ensembl chr 3:154,738,581...154,818,594 		JBrowse link
G Nefl neurofilament light chain ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:12477167 PMID:12566280 PMID:19158810 PMID:20301384 PMID:21840889 More... NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793 		JBrowse link
G Ngf nerve growth factor ISO protein:decreased expression:serum: RGD PMID:14587217 RGD:8655553 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:12525542 PMID:16199547 PMID:16371502 PMID:18381613 PMID:19250381 More... NCBI chr 6:25,928,018...26,024,631
Ensembl chr 6:25,928,055...26,024,631 		JBrowse link
G P2rx2 purinergic receptor P2X 2 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:28492532 PMID:30311386 PMID:34652575 NCBI chr12:46,338,979...46,342,891
Ensembl chr12:46,339,549...46,342,891 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:19877282 PMID:25079577 PMID:25741868 PMID:28492532 PMID:32399598 NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		JBrowse link
G Phex phosphate regulating endopeptidase X-linked ISO DNA:mutations:cds: RGD PMID:15029877 RGD:11556244 NCBI chr  X:37,607,553...37,856,183
Ensembl chr  X:37,610,760...37,854,469 		JBrowse link
G Phf7 PHD finger protein 7 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr16:6,433,535...6,446,314
Ensembl chr16:6,433,537...6,446,911 		JBrowse link
G Pls1 plastin 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:31397523 NCBI chr 8:96,316,703...96,426,592
Ensembl chr 8:96,317,849...96,385,195 		JBrowse link
G Plscr4 phospholipid scramblase 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 8:92,987,290...93,026,056
Ensembl chr 8:92,987,381...93,026,049 		JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797 		JBrowse link
G Prickle3 prickle planar cell polarity protein 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr  X:14,837,647...14,849,305
Ensembl chr  X:14,837,650...14,848,218 		JBrowse link
G Prkcb protein kinase C, beta ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27329761 NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536 		JBrowse link
G Ptgds prostaglandin D2 synthase IEP protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 3:8,281,899...8,284,833
Ensembl chr 3:8,281,899...8,284,833 		JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 7:42,834,455...43,016,807
Ensembl chr 7:42,837,109...43,016,917 		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 chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:8279480 PMID:25741868 PMID:28492532 PMID:32827185 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633 		JBrowse link
G RT1-CE13 RT1 class I, locus CE13 ISO Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphisms:cds:HLA-Bw54 (human) RGD PMID:2909230 RGD:7365120 NCBI chr20:3,314,830...3,318,106 JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :DRB1*0301(human) RGD PMID:8712634 RGD:7365101 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Scp2 sterol carrier protein 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:33713422 NCBI chr 5:122,806,949...122,881,259
Ensembl chr 5:122,776,549...122,881,287 		JBrowse link
G Sema3d semaphorin 3D ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 4:22,316,769...22,505,930
Ensembl chr 4:22,316,779...22,505,930 		JBrowse link
G Slc12a2 solute carrier family 12 member 2 IEP
ISO		 protein:decreased expression:cochlea:
ClinVar Annotator: match by term: Sensorineural hearing loss disorder		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:34374074 PMID:23827367 RGD:7349365 NCBI chr18:51,348,282...51,416,448
Ensembl chr18:51,348,302...51,416,440 		JBrowse link
G Slc25a4 solute carrier family 25 member 4 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:16155110 PMID:21549803 PMID:22497660 PMID:25741868 PMID:27693233 More... NCBI chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
G Slc26a4 solute carrier family 26 member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15279074 PMID:16053392 PMID:17322586 NCBI chr 6:48,107,575...48,153,762
Ensembl chr 6:48,107,588...48,145,703 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO mRNA:decreased expression:organ of Corti (mouse) RGD PMID:19363478 RGD:9585667 NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289 		JBrowse link
G Slc52a2 solute carrier family 52 member 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 7:108,246,003...108,267,642
Ensembl chr 7:108,262,612...108,268,034 		JBrowse link
G Slc7a14 solute carrier family 7, member 14 ISS MouseDO NCBI chr 2:112,065,286...112,171,319
Ensembl chr 2:112,065,286...112,171,313 		JBrowse link
G Slc7a8 solute carrier family 7 member 8 ISS OMIM:304400 MouseDO NCBI chr15:28,183,013...28,242,717
Ensembl chr15:28,183,015...28,242,717 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISS OMIM:304400 MouseDO NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393 		JBrowse link
G Sod2 superoxide dismutase 2 IEP protein:increased activity:cochlea: RGD PMID:15109710 RGD:8547516 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189 		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 chr  X:139,308,608...139,310,687
Ensembl chr  X:139,309,329...139,310,678 		JBrowse link
G Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr10:57,067,348...57,105,969
Ensembl chr10:57,066,897...57,105,957 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase treatment ISO RGD PMID:24472721 RGD:11554193 NCBI chr 3:146,091,969...146,139,492
Ensembl chr 3:146,091,841...146,139,476 		JBrowse link
G Strc stereocilin ISO RGD PMID:11687802 RGD:1599186 NCBI chr 3:108,335,920...108,355,114
Ensembl chr 3:108,335,747...108,354,134 		JBrowse link
G Stx4 syntaxin 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:30311386 PMID:36355422 NCBI chr 1:182,451,108...182,459,701
Ensembl chr 1:182,451,117...182,459,979 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO DNA:frameshift mutation:CDS:p.G387AfsX73 (human) RGD PMID:32110744 RGD:155641234 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tcf19 transcription factor 19 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr20:3,218,756...3,222,861
Ensembl chr20:3,218,693...3,223,271 		JBrowse link
G Tecta tectorin alpha ISO autosomal dominant nonsyndromic sensorineural deafness DFNA12, OMIM:601842 and DFNA8, OMIM:601543
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder
autosomal recessive sensorineural nonsyndromic deafness DFNB21, OMIM:603629 		ClinVar
RGD		 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... RGD:1599380, RGD:1599381 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707 		JBrowse link
G Tenm1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr  X:121,400,466...122,289,877
Ensembl chr  X:121,403,649...122,290,207 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292 		JBrowse link
G Tmc1 transmembrane channel-like 1 ISO DFNA36, OMIM:606705, DFNB7, OMIM:600974
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment		 ClinVar
RGD		 PMID:11850618 RGD:1599440 NCBI chr 1:218,275,249...218,446,013
Ensembl chr 1:218,276,417...218,445,955 		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 chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555 		JBrowse link
G Tmie transmembrane inner ear ISO DFNB6, OMIM:600971
ClinVar Annotator: match by term: Sensorineural hearing loss disorder		 ClinVar
RGD		 PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... RGD:1599441 NCBI chr 8:110,849,713...110,864,803
Ensembl chr 8:110,850,034...110,864,803 		JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO DFNB10, OMIM:605316, DFNB8 OMIM:601072 RGD PMID:11137999 RGD:1599443 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624 		JBrowse link
G Tnf tumor necrosis factor ISO associated with Hearing Loss, Sensorineural;protein:increased expression:serum: RGD PMID:16988499 PMID:19684145 PMID:23165380 RGD:7387303, RGD:8142347, RGD:7394704 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Top1mt DNA topoisomerase I mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 7:107,338,092...107,368,125
Ensembl chr 7:107,342,527...107,366,049 		JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559 		JBrowse link
G Ush1c USH1 protein network component harmonin susceptibility ISO DNA:splice-site mutation, frameshift mutation RGD PMID:10973247 PMID:20211154 RGD:1600453, RGD:8695932 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		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 chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Usp31 ubiquitin specific peptidase 31 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 1:176,211,334...176,278,183
Ensembl chr 1:176,215,889...176,278,355 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Sensorineural hearing loss
DNA:missense mutation:cds:p.R456H (rs1801206) (human)
associated with Diabetes Mellitus, Type 2		 ClinVar
RGD		 PMID:12107816 PMID:22238590 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:8694398, RGD:8694404, RGD:8694401 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
G Whrn whirlin ISO RGD PMID:12833159 RGD:1580603 NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223 		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 chr10:12,636,302...12,646,275
Ensembl chr10:12,636,302...12,646,275 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss		 OMIM
CTD
ClinVar		 PMID:22121204 NCBI chr 4:34,999,139...35,003,504
Ensembl chr 4:34,999,139...35,003,407 		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 chr 5:159,910,242...159,928,201
Ensembl chr 5:159,910,242...159,928,180 		JBrowse link
Sudden Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpx3 glutathione peroxidase 3 ISO DNA:SNP: :rs3805435 (human) RGD PMID:28738977 RGD:401827121 NCBI chr10:39,028,624...39,036,695
Ensembl chr10:39,028,570...39,037,035 		JBrowse link
G Hspa1a heat shock protein family A (Hsp70) member 1A ISO DNA:SNP, haplotype: :rs1043618 (human) RGD PMID:22922572 RGD:8662465 NCBI chr20:3,870,765...3,873,221
Ensembl chr20:3,856,006...3,873,227 		JBrowse link
G Hspa1b heat shock protein family A (Hsp70) member 1B ISO DNA:SNP, haplotype: :rs2763979 (human) RGD PMID:22922572 RGD:8662465 NCBI chr20:3,855,104...3,859,148
Ensembl chr20:3,856,006...3,873,240
Ensembl chr20:3,856,006...3,873,240 		JBrowse link
G Hspa1l heat shock protein family A (Hsp70) member 1 like ISO DNA:SNP, haplotype: :rs2075800 (human) RGD PMID:22922572 RGD:8662465 NCBI chr20:3,848,843...3,855,571
Ensembl chr20:3,848,843...3,855,571 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO RGD PMID:21108784 RGD:8548824 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Il4r interleukin 4 receptor ISO DNA:SNP: :p.Q576R (rs 180275) (human) RGD PMID:16280132 RGD:7829784 NCBI chr 1:180,115,061...180,139,981
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il6 interleukin 6 susceptibility ISO protein:increased expression:serum:
DNA:polymorphism:cds:p.C572G(human)		 RGD PMID:11189185 PMID:22385075 RGD:7394753, RGD:8547982 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Itga2 integrin subunit alpha 2 susceptibility ISO DNA:SNP: :807C>T (human) RGD PMID:16525573 RGD:1582302 NCBI chr 2:46,520,345...46,621,487
Ensembl chr 2:46,523,948...46,621,481 		JBrowse link
G Lta lymphotoxin alpha ISO DNA:polymorphism:intron:252A>G (human) RGD PMID:19833626 RGD:8548795 NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) RGD PMID:21154774 RGD:8549733 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility
no_association		 ISO DNA:SNP: :677C>T(human)
CTD Direct Evidence: marker/mechanism
DNA:SNPs:cds:677C>T,1298A>C(human)
DNA:SNP:cds:677C>T(human)		 CTD
RGD		 PMID:16275406 PMID:20798492 PMID:15775757 PMID:16572609 RGD:7387236, RGD:7387243, RGD:7387240 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:16778415 RGD:8694081 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO DNA:snp:cds:p.E298D (rs1799983) (human) RGD PMID:23560644 RGD:7771541 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G RT1-Ba RT1 class II, locus Ba treatment ISO DNA:polymorphism: : HLA-DQA1*01 RGD PMID:11493203 RGD:8547564 NCBI chr20:4,575,134...4,579,727
Ensembl chr20:4,575,134...4,579,744 		JBrowse link
G RT1-Db1 RT1 class II, locus Db1 susceptibility ISO DNA:polymorphism: :HLA-DRB1*14,HLA-DRB1*04(human)
DNA:polymorphism: :HLA-DRB1*0403(human)		 RGD PMID:11099146 PMID:16303674 RGD:7365092, RGD:7365115 NCBI chr20:4,548,664...4,558,237
Ensembl chr20:4,548,666...4,558,258 		JBrowse link
G Serpine1 serpin family E member 1 susceptibility ISO DNA:deletion, haplotype:promoter:g.-676_-674delG (human) RGD PMID:22672326 RGD:8547731 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:11189185 RGD:7394753 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
thiamine-responsive megaloblastic anemia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a2 solute carrier family 19 member 2 ISO
ISS		 ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia
OMIM:249270
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More... NCBI chr13:76,601,975...76,616,175
Ensembl chr13:76,601,900...76,616,172 		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 chr 6:89,790,676...89,818,254
Ensembl chr 6:89,790,644...89,817,906 		JBrowse link
G Sall1 spalt-like transcription factor 1 ISO
ISS		 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:107480
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:8133838 PMID:9425907 PMID:9536098 PMID:9973281 PMID:10533063 More... NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		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 chr 6:89,790,676...89,818,254
Ensembl chr 6:89,790,644...89,817,906 		JBrowse link
Townes-Brocks-Branchiootorenal-Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall1 spalt-like transcription factor 1 ISO ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome ClinVar PMID:9973281 PMID:10928856 PMID:14755477 PMID:16088922 PMID:23069192 More... NCBI chr19:18,005,782...18,022,705
Ensembl chr19:18,007,503...18,022,705 		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 chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941 		JBrowse link
G Atp6v1b1 ATPase H+ transporting V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 4:116,223,799...116,242,475
Ensembl chr 4:116,223,799...116,242,475 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr 1:202,184,812...202,204,118
Ensembl chr 1:202,186,125...202,204,086 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,865,634...96,893,506
Ensembl chr13:96,868,580...96,893,503 		JBrowse link
G C13h1orf115 similar to human chromosome 1 open reading frame 115 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,422,308...96,432,044
Ensembl chr13:96,422,302...96,432,068 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:201,428,671...201,442,950
Ensembl chr 1:201,428,672...201,433,172 		JBrowse link
G Ccdc40 coiled-coil domain 40 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... RGD:8547536 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 NCBI chr 3:144,470,946...144,516,125
Ensembl chr 3:144,471,214...144,516,125 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 PMID:26226137 More... NCBI chr 8:54,930,265...54,947,157 JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD		 PMID:7407589 PMID:11524702 PMID:15521980 PMID:17407589 PMID:17893653 More... RGD:8547535 NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109 		JBrowse link
G Col4a4 collagen type IV alpha 4 chain ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 9:83,833,173...83,875,436
Ensembl chr 9:83,755,515...83,875,876 		JBrowse link
G Crb1 crumbs cell polarity complex component 1 ISO ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr13:50,801,484...50,989,261
Ensembl chr13:50,800,959...50,989,261 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:76,539,812...76,553,694
Ensembl chr 1:76,540,141...76,545,818 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:95,613,716...95,651,716
Ensembl chr13:95,614,292...95,651,716 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,901,548...96,971,966
Ensembl chr13:96,901,575...96,971,966 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397 		JBrowse link
G Fmc1 formation of mitochondrial complex V assembly factor 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 4:67,274,104...67,282,140
Ensembl chr 4:67,274,104...67,282,140 		JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:98,784,993...98,925,696
Ensembl chr13:98,784,969...98,925,661 		JBrowse link
G Guca1a guanylate cyclase activator 1A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chr 9:13,588,988...13,598,566
Ensembl chr 9:13,588,525...13,598,565 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441 		JBrowse link
G Hhipl2 HHIP like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:95,054,685...95,074,609
Ensembl chr13:95,054,694...95,074,608 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,280,335...96,285,750
Ensembl chr13:96,280,339...96,285,750 		JBrowse link
G Iars2 isoleucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,831,484...96,865,518
Ensembl chr13:96,831,484...96,865,501 		JBrowse link
G Luc7l2 LUC7-like 2 pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 4:67,287,593...67,347,986
Ensembl chr 4:67,287,640...67,347,964 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:97,626,568...97,657,901
Ensembl chr13:97,626,451...97,657,867 		JBrowse link
G Mark1 microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,450,189...96,555,304
Ensembl chr13:96,451,487...96,555,173 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,851,166...96,851,248
Ensembl chr13:96,851,166...96,851,248 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,324,377...96,362,677
Ensembl chr13:96,339,757...96,397,796 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,362,810...96,397,284 JBrowse link
G Myo7a myosin VIIA ISO 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 Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... RGD:8547536 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:175,642,978...175,710,528
Ensembl chr 1:175,642,975...175,710,435 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:79,567,455...79,664,042
Ensembl chr 9:79,568,634...79,664,042 		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
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... RGD:8547536 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Pde6a phosphodiesterase 6A ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chr18:54,676,863...54,748,640
Ensembl chr18:54,676,863...54,748,816 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:243,888,295...243,907,778
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr14:66,989,545...67,094,534
Ensembl chr14:66,990,160...67,094,527 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr 9:14,066,149...14,081,454
Ensembl chr 9:14,066,156...14,081,454 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,757,430...96,828,930
Ensembl chr13:96,757,460...96,829,478 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:98,276,276...98,299,357
Ensembl chr13:98,276,134...98,299,370 		JBrowse link
G Serpinb6a serpin family B member 6A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr17:30,871,468...30,989,703
Ensembl chr17:30,871,468...31,014,427 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:96,998,143...97,048,076
Ensembl chr13:96,998,143...97,009,103 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:98,605,986...98,784,855
Ensembl chr13:98,605,986...98,784,929 		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 chr13:95,012,160...95,048,131
Ensembl chr13:95,029,225...95,048,087 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		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
DNA:mutations:cds:		 ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8547536, RGD:8695937, RGD:8695939, RGD:8694458, RGD:8694457 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:20212494 RGD:8547536 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		JBrowse link
G Ush2a usherin susceptibility 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
DNA:snps, insertion:exon, intron:multiple (human)		 ClinVar
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... RGD:8547535, RGD:8547956 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11973626 PMID:12833159 PMID:15841483 PMID:21569298 PMID:22147658 More... NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223 		JBrowse link
G Zdhhc24 zinc finger, DHHC-type containing 24 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr 1:202,175,832...202,181,943
Ensembl chr 1:202,175,807...202,182,880 		JBrowse link
Usher syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:21569298 PMID:24033266 PMID:28492532 NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G C20h10orf105 similar to human chromosome 10 open reading frame 105 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:18505454 PMID:20301442 PMID:23023331 NCBI chr 8:54,930,265...54,947,157 JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
G Myo7a myosin VIIA ISO
ISS		 DNA:insertion:CDS:c.2663_2664insA (human)
ClinVar Annotator: match by term: Usher syndrome type 1
OMIM:276900		 ClinVar
MouseDO
RGD		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... RGD:8694152 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		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 chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Ush1c USH1 protein network component harmonin onset ISO DNA:mutations:cds,splicing site:p.R103H,c.2227-1G>A(human)
ClinVar Annotator: match by term: Usher syndrome type 1
DNA:mutation:cds: c.216G>A(human)
DNA:deletion:exon:c.1220delG(human)		 ClinVar
RGD		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... RGD:8695918, RGD:8695921, RGD:8695919 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:11941484 PMID:12588794 PMID:21569298 PMID:25741868 PMID:28492532 NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		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 chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h10orf105 similar to human chromosome 10 open reading frame 105 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 chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cdh23 cadherin-related 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 chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Myo7a myosin VIIA treatment ISO
IAGP		 ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation
DNA:mutations: :multiple		 OMIM
ClinVar
CTD
RGD		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... RGD:1581470, RGD:8694151, RGD:8694151, RGD:8694137, RGD:8694135 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		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 1B | ClinVar Annotator: match by term: Usher syndrome, type I, French variety		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness		 CTD
ClinVar		 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 PMID:11239869 More... NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
Usher syndrome type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO
ISS		 ClinVar Annotator: match by term: Usher syndrome type 1C
OMIM:276904
CTD Direct Evidence: marker/mechanism
DNA:insertion, deletion, repeats:exon, intron:IVS5-2delA, 233-239insC (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:1600453 NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C20h10orf105 similar to human chromosome 10 open reading frame 105 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 chr20:28,333,094...28,339,341
Ensembl chr20:28,336,101...28,336,487 		JBrowse link
G Cdh23 cadherin-related 23 ISO
ISS		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
OMIM:601067
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... RGD:8662279 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Usher syndrome type 1D ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr20:28,214,229...28,240,501
Ensembl chr20:28,214,271...28,240,498 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr20:28,281,582...28,307,262
Ensembl chr20:28,281,596...28,303,878 		JBrowse link
Usher syndrome type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO
ISS		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F
OMIM:602083
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
Usher syndrome type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		JBrowse link
G Ush1g USH1 protein network component sans ISO
ISS		 OMIM:606943
CTD Direct Evidence: marker/mechanism
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
MouseDO
CTD
ClinVar		 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chr10:100,559,721...100,563,590
Ensembl chr10:100,557,629...100,563,590 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18505454 PMID:20301442 PMID:23023331 PMID:24033266 PMID:25741868 More... NCBI chr 8:54,930,265...54,947,157 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 chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
Usher syndrome type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:16199547 PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 More... NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 More... NCBI chr 1:96,695,303...96,743,671
Ensembl chr 1:96,695,307...96,743,671 		JBrowse link
G Ush2a usherin susceptibility ISO DNA:frameshift mutations, missense mutations, nonsense mutation:exon:multiple (human)
ClinVar Annotator: match by term: Usher syndrome type 2
DNA:mutations: :multiple
DNA:snp:intron:c.7595-2144A>G (human)
DNA:insertion, deletions, snps:multiple (human)
DNA:mutations:multiple (human)		 ClinVar
RGD		 PMID:2564938 PMID:9536098 PMID:10729113 PMID:10738000 PMID:10909849 More... RGD:8547952, RGD:8694137, RGD:8547985, RGD:8547965, RGD:8547962 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
Usher syndrome type 2A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Kctd3 potassium channel tetramerization domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr13:100,510,193...100,548,765
Ensembl chr13:100,510,195...100,548,718 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20440071 PMID:25741868 PMID:26849169 PMID:28492532 PMID:29048736 NCBI chr 1:243,888,295...243,907,778
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
G Sftpc surfactant protein C ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chr15:45,596,565...45,599,615
Ensembl chr15:45,596,574...45,610,777 		JBrowse link
G Ush2a usherin susceptibility ISO
ISS		 ClinVar Annotator: match by term: USH2A-related condition | ClinVar Annotator: match by term: Usher syndrome type 2A
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A
OMIM:276901
CTD Direct Evidence: marker/mechanism
DNA:frameshift mutations:cds:c.2314delG, c.2913delG, c.4353-4354delCT (human)
DNA:mutations:multiple (human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1968399 PMID:2525289 PMID:2564938 PMID:9536098 PMID:9624053 More... RGD:8547987, RGD:8547961 NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		JBrowse link
Usher syndrome type 2C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO
ISS		 ClinVar Annotator: match by term: 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:605472
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Cnksr1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:25741868 NCBI chr 5:146,447,495...146,458,332
Ensembl chr 5:146,447,497...146,458,212 		JBrowse link
G Crygc crystallin, gamma C ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:66,451,591...66,453,626
Ensembl chr 9:66,451,593...66,453,626 		JBrowse link
G Fras1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Usher syndrome type 2C ClinVar PMID:21900877 PMID:25741868 PMID:28492532 NCBI chr14:12,791,407...13,200,862
Ensembl chr14:12,793,599...13,200,726 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26467025 More... NCBI chr 1:243,888,295...243,907,778
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
G Slc4a7 solute carrier family 4 member 7 ISS OMIM:605472 MouseDO NCBI chr15:10,585,307...10,664,780
Ensembl chr15:10,588,979...10,664,781 		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 chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092 		JBrowse link
Usher syndrome type 2D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Whrn whirlin ISO
ISS		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D
OMIM:611383
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 More... NCBI chr 5:76,828,308...76,911,945
Ensembl chr 5:76,828,301...76,912,223 		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
ISS		 ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar
MouseDO		 PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
Usher syndrome type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO
ISS		 OMIM:276902
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A		 MouseDO
CTD
ClinVar
OMIM
RGD		 PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... RGD:634439 NCBI chr 2:143,084,030...143,130,948
Ensembl chr 2:143,084,030...143,130,948 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Usher syndrome type 3A ClinVar PMID:2564938 PMID:10729113 PMID:10909849 PMID:15015129 PMID:16963483 More... NCBI chr13:99,837,445...100,503,935
Ensembl chr13:99,837,445...100,503,922 		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 chr18:28,378,692...28,381,316
Ensembl chr18:28,378,692...28,381,316 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22279524 PMID:22279824 More... NCBI chr18:28,381,649...28,398,699
Ensembl chr18:28,381,655...28,398,740 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr18:28,398,790...28,408,075
Ensembl chr18:28,398,795...28,414,747 		JBrowse link
Usher Syndrome Type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: ARSG-related condition | ClinVar Annotator: match by term: Usher syndrome, type 4 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29300381 PMID:32455177 PMID:33300174 More... NCBI chr10:94,412,261...94,551,224
Ensembl chr10:94,447,399...94,542,941 		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 chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		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 chr 2:11,331,434...11,911,713
Ensembl chr 2:11,331,442...11,911,688 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26416264 PMID:26849169 More... NCBI chr 1:243,888,295...243,907,778
Ensembl chr 1:243,888,281...243,906,839 		JBrowse link
Usher Syndrome, Type ID/F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin-related 23 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:11138009 PMID:12075507 PMID:15537665 PMID:15660226 PMID:21940737 More... NCBI chr20:28,240,643...28,622,490
Ensembl chr20:28,240,645...28,622,419 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr20:13,997,094...15,496,446
Ensembl chr20:13,963,565...15,494,719 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition		 OMIM
CTD
ClinVar		 PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532 NCBI chr 8:5,095,705...5,166,808
Ensembl chr 8:5,095,722...5,167,010 		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 chr16:46,072,935...46,076,730
Ensembl chr16:46,072,939...46,076,733 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Vertigo ClinVar PMID:25741868 NCBI chr 5:77,375,851...77,460,712
Ensembl chr 5:77,375,851...77,460,624 		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 chr 2:189,020,722...189,048,826
Ensembl chr 2:189,020,722...189,048,837 		JBrowse link
G Espn espin ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15286153 PMID:10975527 RGD:734943 NCBI chr 5:162,626,560...162,660,439
Ensembl chr 5:162,626,560...162,660,256 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Gstz1 glutathione S-transferase zeta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr 6:106,794,594...106,805,284
Ensembl chr 6:106,794,074...106,805,284 		JBrowse link
G Kcna10 potassium voltage-gated channel subfamily A member 10 ISS MouseDO NCBI chr 2:194,786,500...194,798,575
Ensembl chr 2:194,786,500...194,798,575 		JBrowse link
G Myo7a myosin VIIA ISO DNA:mutations:cds:multiple (mouse) RGD PMID:9680294 RGD:4892285 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18776599 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Oc90 otoconin 90 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21269433 NCBI chr 7:97,635,890...97,669,303
Ensembl chr 7:97,635,890...97,669,416 		JBrowse link
G Srrm4 serine/arginine repetitive matrix 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17613114 NCBI chr12:39,998,975...40,158,897
Ensembl chr12:39,999,488...40,155,725 		JBrowse link
Vohwinkel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Keratoderma hereditarium mutilans | ClinVar Annotator: match by term: Mutilating keratoderma
CTD Direct Evidence: marker/mechanism
DNA:mutation:cds:p.D66H(human)		 OMIM
ClinVar
CTD
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:11568635, RGD:7364824 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :109G>C (p.E37Q) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:10739754 PMID:17576681 PMID:17846994 PMID:24705017 More... RGD:10045603, RGD:10045601 NCBI chr 2:223,828,937...223,853,768
Ensembl chr 2:223,828,937...223,868,946 		JBrowse link
G Cisd3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr10:82,679,345...82,682,376
Ensembl chr10:82,679,196...82,682,550 		JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741868 NCBI chr10:82,682,563...82,694,563
Ensembl chr10:82,683,553...82,693,406 		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 chr 2:223,769,105...223,818,359
Ensembl chr 2:223,769,105...223,818,179 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEAFNESS, X-LINKED 2, SENSORINEURAL CONGENITAL | ClinVar Annotator: match by term: Deafness, X-linked 1
DNA:missense mutation:exon:p.G306E (c.917G>A) (human)		 OMIM
CTD
ClinVar
RGD		 PMID:8968763 PMID:10503584 PMID:15240907 PMID:17701900 PMID:20021999 More... RGD:11061884 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187 		JBrowse link
X-linked deafness 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear		 CTD
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear		 CTD
ClinVar		 PMID:10730756 PMID:11017065 PMID:12419304 PMID:12788524 PMID:14708603 More... NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1783396 PMID:6662621 PMID:7581392 PMID:7839145 PMID:9298820 More... NCBI chr  X:75,858,646...75,859,923
Ensembl chr  X:75,858,646...75,859,923 		JBrowse link
X-linked deafness 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpx small muscle protein, X-linked ISO
ISS		 OMIM:300066
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: DEAFNESS, X-LINKED 6, PROGRESSIVE | ClinVar Annotator: match by term: Deafness, X-linked 4		 OMIM
MouseDO
CTD
ClinVar		 PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More... NCBI chr  X:37,233,209...37,292,266
Ensembl chr  X:37,234,294...37,276,708 		JBrowse link
X-linked deafness 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism
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
CTD
ClinVar		 PMID:16816020 PMID:25741868 PMID:25986071 PMID:28492532 PMID:31850270 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256 		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 chr  X:127,694,219...127,706,378
Ensembl chr  X:127,694,964...127,706,378 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:23714752 PMID:25741868 PMID:26467025 More... NCBI chr  X:104,766,463...105,117,499
Ensembl chr  X:104,766,957...105,117,500 		JBrowse link
X-linked deafness 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gprasp2 G protein-coupled receptor associated sorting protein 2 ISO ClinVar Annotator: match by term: X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome OMIM
ClinVar		 PMID:25741868 NCBI chr  X:98,817,668...98,823,814
Ensembl chr  X:98,817,593...98,824,402 		JBrowse link
X-linked nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smpx small muscle protein, X-linked ISO ClinVar Annotator: match by term: X-linked deafness ClinVar NCBI chr  X:37,233,209...37,292,266
Ensembl chr  X:37,234,294...37,276,708 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6961
      auditory system disease 994
        inner ear disease 669
          bilateral hyperactive labyrinth 0
          cochlear disease + 8
          inner ear cancer + 0
          labyrinthine dysfunction + 0
          motion sickness + 0
          otitis interna + 1
          otosclerosis + 7
          sensorineural hearing loss + 626
          sparganosis 0
          superior semicircular canal dehiscence 0
          vestibular disease + 57
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sensory system disease 6961
            Otorhinolaryngologic Diseases 1740
              auditory system disease 994
                inner ear disease 669
                  bilateral hyperactive labyrinth 0
                  cochlear disease + 8
                  inner ear cancer + 0
                  labyrinthine dysfunction + 0
                  motion sickness + 0
                  otitis interna + 1
                  otosclerosis + 7
                  sensorineural hearing loss + 626
                  sparganosis 0
                  superior semicircular canal dehiscence 0
                  vestibular disease + 57
paths to the root