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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Hearing Disorders
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Accession:DOID:9002500 term browser browse the term
Definition:Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways.
Synonyms:exact_synonym: Distorted Hearing;   Dysacusis;   Hearing Disorder;   Paracousis;   Paracusis
 primary_id: MESH:D006311


show annotations for term's descendants           Sort by:
Hearing Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nipbl NIPBL cohesin loading factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:19763162 NCBI chr15:8,319,308...8,494,799
Ensembl chr15:8,320,101...8,473,947 		JBrowse link
G Prkra protein kinase, interferon inducible double stranded RNA dependent activator ISO CTD Direct Evidence: marker/mechanism CTD PMID:25554729 NCBI chr 2:76,436,385...76,478,614
Ensembl chr 2:76,460,242...76,478,359 		JBrowse link
G Srrm4 serine/arginine repetitive matrix 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17613114 NCBI chr 5:116,577,331...116,729,882
Ensembl chr 5:116,577,334...116,729,876 		JBrowse link
G Ttpa tocopherol (alpha) transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10896705 NCBI chr 4:20,007,889...20,030,823
Ensembl chr 4:20,007,938...20,030,785 		JBrowse link
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acat2 acetyl-Coenzyme A acetyltransferase 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,161,929...13,179,612
Ensembl chr17:13,161,777...13,179,634 		JBrowse link
G Agpat4 1-acylglycerol-3-phosphate O-acyltransferase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,337,372...12,438,536
Ensembl chr17:12,337,591...12,438,532 		JBrowse link
G Airn antisense Igf2r RNA ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,960,198...13,078,771
Ensembl chr17:12,960,198...13,079,023 		JBrowse link
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: MEGDEL syndrome ClinVar PMID:25741868 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		JBrowse link
G Dynlt1b dynein light chain Tctex-type 1B ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:6,697,511...6,703,695
Ensembl chr17:6,697,511...6,703,695 		JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:7,005,530...7,050,179
Ensembl chr17:7,005,440...7,050,183 		JBrowse link
G Fndc1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:7,957,401...8,046,158
Ensembl chr17:7,957,401...8,046,134 		JBrowse link
G Gtf2h5 general transcription factor IIH, polypeptide 5 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:6,130,103...6,135,763
Ensembl chr17:6,130,061...6,136,792 		JBrowse link
G Igf2r insulin-like growth factor 2 receptor ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,901,293...12,988,593
Ensembl chr17:12,901,293...12,988,551 		JBrowse link
G Map3k4 mitogen-activated protein kinase kinase kinase 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,446,508...12,537,683
Ensembl chr17:12,446,508...12,537,683 		JBrowse link
G Mas1 MAS1 oncogene ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,056,981...13,087,037
Ensembl chr17:13,059,966...13,087,030 		JBrowse link
G Mrpl18 mitochondrial ribosomal protein L18 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,130,232...13,136,674
Ensembl chr17:13,130,236...13,135,232 		JBrowse link
G Plg plasminogen ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,597,496...12,638,271
Ensembl chr17:12,597,495...12,638,272 		JBrowse link
G Pnldc1 poly(A)-specific ribonuclease (PARN)-like domain containing 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,107,610...13,129,489
Ensembl chr17:13,107,616...13,129,117 		JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:11,059,227...12,282,257
Ensembl chr17:11,059,271...12,282,248 		JBrowse link
G Rsph3a radial spoke 3A homolog (Chlamydomonas) ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:8,164,446...8,198,388
Ensembl chr17:8,164,446...8,198,656 		JBrowse link
G Serac1 serine active site containing 1 ISO
IAGP		 ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | ClinVar Annotator: match by term: MEGDEL syndrome
CTD Direct Evidence: marker/mechanism
OMIM:614739		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:15220921 PMID:16199547 PMID:17576681 PMID:22683713 More... NCBI chr17:6,090,846...6,130,064
Ensembl chr17:6,092,471...6,130,016 		JBrowse link
G Slc22a1 solute carrier family 22 (organic cation transporter), member 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,867,761...12,894,725
Ensembl chr17:12,867,756...12,894,716 		JBrowse link
G Slc22a2 solute carrier family 22 (organic cation transporter), member 2 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,803,076...12,847,376
Ensembl chr17:12,803,019...12,847,375 		JBrowse link
G Slc22a3 solute carrier family 22 (organic cation transporter), member 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:12,638,859...12,726,591
Ensembl chr17:12,637,847...12,726,591 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Sytl3 synaptotagmin-like 3 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:6,925,633...7,005,449
Ensembl chr17:6,926,492...7,005,443 		JBrowse link
G Tagap T cell activation Rho GTPase activating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:8,144,832...8,153,729
Ensembl chr17:8,144,832...8,153,729 		JBrowse link
G Tcp1 t-complex protein 1 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,135,216...13,143,954
Ensembl chr17:13,134,588...13,143,954 		JBrowse link
G Tmem181a transmembrane protein 181A ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:6,307,001...6,358,589
Ensembl chr17:6,307,135...6,358,589 		JBrowse link
G Tulp4 TUB like protein 4 ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:6,156,528...6,290,912
Ensembl chr17:6,156,712...6,301,403 		JBrowse link
G Wtap WT1 associating protein ISO ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome ClinVar PMID:15220921 PMID:22683713 PMID:26863999 PMID:28492532 NCBI chr17:13,185,686...13,211,430
Ensembl chr17:13,185,683...13,213,056 		JBrowse link
Abruzzo-Erickson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box 22 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Abruzzo-Erickson syndrome		 OMIM
CTD
ClinVar		 PMID:839509 PMID:22784330 PMID:25741868 NCBI chr  X:106,711,570...106,732,586
Ensembl chr  X:106,711,570...106,732,584 		JBrowse link
aminoglycoside-induced deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Co1 cytochrome c oxidase I, mitochondrial ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
G mt-Rnr1 12S rRNA, mitochondrial ISO ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024 		JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: STREPTOMYCIN OTOTOXICITY		 CTD
ClinVar		 PMID:1322638 PMID:1634041 PMID:1732158 PMID:8060346 PMID:8240356 More... NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938 		JBrowse link
G Trmu tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 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 chr15:85,763,505...85,781,595
Ensembl chr15:85,763,513...85,781,595 		JBrowse link
Arts syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain transcription factor 2 ISO DNA, protein:missense mutations, decreased activity:exon:p.Q133P (c.398A>C), p.L152P (c.455T>C) (human) RGD PMID:17701896 RGD:12910562 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE | ClinVar Annotator: match by term: X-linked fatal ataxia with deafness and loss of vision		 OMIM
CTD
ClinVar		 PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:8498830 More... NCBI chr  X:139,357,352...139,376,889
Ensembl chr  X:139,357,362...139,376,889 		JBrowse link
ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Tv tRNA valine, mitochondrial ISO ClinVar Annotator: match by term: Ataxia, progressive seizures, mental deterioration, and hearing loss ClinVar PMID:9450773 PMID:12056939 PMID:20064630 PMID:31965079 NCBI chr MT:1,025...1,093
Ensembl chr MT:1,025...1,093 		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
IAGP		 ClinVar Annotator: match by term: Athabaskan brainstem dysgenesis syndrome | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: Navajo brainstem syndrome
OMIM:601536
CTD Direct Evidence: marker/mechanism
DNA:mutations:cds:185delG,175-176insG,76C>T(human)		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:16155570 PMID:18412118 PMID:24239177 PMID:25741868 PMID:28492532 More... RGD:11553818 NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297 		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 6:52,139,389...52,141,808
Ensembl chr 6:52,139,397...52,141,811 		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, mitochondrion-associated 1 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr  X:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Cdh2 cadherin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:28492532 NCBI chr18:16,721,934...16,942,303
Ensembl chr18:16,721,934...16,942,303 		JBrowse link
G Fdxr ferredoxin reductase ISO ClinVar Annotator: match by term: Auditory dys-synchrony ClinVar PMID:25741868 PMID:28965846 PMID:29040572 NCBI chr11:115,158,850...115,167,925
Ensembl chr11:115,158,850...115,167,876 		JBrowse link
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr10:127,061,564...127,102,217
Ensembl chr10:127,061,565...127,099,217 		JBrowse link
G Mfn2 mitofusin 2 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161 		JBrowse link
G mt-Rnr1 12S rRNA, mitochondrial ISO ClinVar Annotator: match by term: Auditory dys-synchrony ClinVar PMID:11079536 PMID:11313749 PMID:15466285 PMID:15555598 PMID:15637703 More... NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Nefl neurofilament, light polypeptide ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		JBrowse link
G Notch3 notch 3 ISO ClinVar Annotator: match by term: Auditory dys-synchrony | ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 NCBI chr17:32,339,794...32,385,869
Ensembl chr17:32,339,794...32,385,826 		JBrowse link
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		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 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr  X:47,602,540...47,619,112
Ensembl chr  X:47,608,162...47,619,109 		JBrowse link
G Slc52a3 solute carrier protein family 52, member 3 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:25741868 PMID:28492532 PMID:32579787 NCBI chr 2:151,838,431...151,851,178
Ensembl chr 2:151,838,431...151,851,178 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30634948 NCBI chr  X:133,438,005...133,442,419
Ensembl chr  X:133,438,005...133,442,614 		JBrowse link
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr16:25,502,513...25,710,842
Ensembl chr16:25,502,513...25,710,852 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar PMID:30818899 NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Auditory neuropathy ClinVar NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		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 chr11:115,158,850...115,167,925
Ensembl chr11:115,158,850...115,167,876 		JBrowse link
autosomal dominant auditory neuropathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Autosomal dominant auditory neuropathy 1 | ClinVar Annotator: match by term: DIAPH3-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:20624953 PMID:21220648 PMID:25741868 More... NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671 		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, class VI, type 11A ISO OMIM NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728 		JBrowse link
autosomal dominant auditory neuropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Auditory neuropathy, autosomal dominant 3 OMIM
ClinVar		 PMID:18230648 PMID:20435227 PMID:21391237 PMID:21636032 PMID:23161701 More... NCBI chr 6:91,450,689...91,465,445
Ensembl chr 6:91,450,685...91,465,445 		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 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase, H+ transporting, lysosomal V1 subunit B2 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
OMIM:124480		 OMIM
CTD
ClinVar
MouseDO		 PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 NCBI chr 8:69,541,388...69,566,370
Ensembl chr 8:69,541,298...69,566,363 		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 chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993 		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 polypeptide 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 7:44,255,227...44,320,296
Ensembl chr 7:44,255,227...44,320,267 		JBrowse link
autosomal dominant keratitis-ichthyosis-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 IMP
ISO
IAGP		 p.S17F(mouse)
ClinVar Annotator: match by term: KID syndrome | ClinVar Annotator: match by term: KID syndrome, autosomal dominant | ClinVar Annotator: match by term: Keratitis-ichthyosis-deafness syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM:148210
DNA:mutation:cds:p.D50N (human)
p.G45E(mouse)
DNA:mutation:cds:p.N14K(human)
DNA:mutations:cds:p.G11E,p.D50N(human)		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2706105 More... RGD:7364809, RGD:7364885, RGD:7364889, RGD:7364813, RGD:7364811 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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 6:64,706,109...64,708,229
Ensembl chr 6:64,706,109...64,708,229 		JBrowse link
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		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 chr 5:123,649,393...123,664,825
Ensembl chr 5:123,647,828...123,662,239 		JBrowse link
G Greb1l growth regulation by estrogen in breast cancer-like ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 PMID:32585897 NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940 		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 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		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 6:56,046,783...56,629,590
Ensembl chr 6:56,046,789...56,629,472 		JBrowse link
G Pls1 plastin 1 (I-isoform) 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 9:95,634,695...95,727,359
Ensembl chr 9:95,634,695...95,727,364 		JBrowse link
G Six1 sine oculis-related homeobox 1 ISO ClinVar Annotator: match by term: Autosomal dominant non-syndromic sensorineural deafness type DFNA ClinVar PMID:25741868 NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		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 chr18:37,976,654...38,068,573
Ensembl chr18:37,976,654...38,068,529 		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 chr18:35,846,139...35,855,460
Ensembl chr18:35,846,139...35,855,409 		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 chr18:36,797,113...36,799,377
Ensembl chr18:36,797,113...36,798,970 		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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 10 | ClinVar Annotator: match by term: EYA4-Related Disorders		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:11159937 PMID:15735644 PMID:16199547 PMID:17567890 More... NCBI chr10:22,978,861...23,226,785
Ensembl chr10:22,978,862...23,226,684 		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 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		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
IAGP		 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 8 | ClinVar Annotator: match by term: Deafness, autosomal dominant 12
CTD Direct Evidence: marker/mechanism
OMIM:601543		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:9590290 PMID:10196713 PMID:10987647 PMID:11087000 More... NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		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 ISO
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 13
CTD Direct Evidence: marker/mechanism
OMIM:601868		 OMIM
ClinVar
CTD
MouseDO		 PMID:10581026 PMID:10677296 PMID:15372529 PMID:15558753 PMID:21204229 More... NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		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 domain, class 4, transcription factor 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 chr18:42,527,662...42,529,158
Ensembl chr18:42,527,604...42,530,314 		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 2:121,193,729...121,211,851
Ensembl chr 2:121,194,209...121,217,649 		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 polypeptide 9, non-muscle 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 chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		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, cytoplasmic 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 chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		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 chr13:24,685,513...24,917,789
Ensembl chr13:24,685,508...24,917,799 		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
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:606346		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11167014 PMID:11468689 PMID:12687499 PMID:15123708 More... NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		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 sine oculis-related 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 chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		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 (sodium-dependent inorganic phosphate cotransporter), member 8 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal dominant 25
OMIM:605583		 OMIM
CTD
ClinVar
MouseDO		 PMID:11115382 PMID:18674745 PMID:23967202 PMID:24033266 PMID:25741868 More... NCBI chr10:89,409,882...89,457,111
Ensembl chr10:89,409,882...89,457,115 		JBrowse link
G Trpv4 transient receptor potential cation channel, subfamily V, member 4 IAGP OMIM:605583 MouseDO NCBI chr 5:114,760,213...114,796,497
Ensembl chr 5:114,760,213...114,796,482 		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 chr 5:77,413,273...77,434,279
Ensembl chr 5:77,413,338...77,434,279 		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 chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813 		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 4:120,553,331...120,605,809
Ensembl chr 4:120,553,335...120,605,809 		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
ClinVar		 PMID:9843210 PMID:16077902 PMID:19050930 PMID:21204020 PMID:23638949 More... NCBI chr 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637 		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, class VI, type 11A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 33 ClinVar PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728 		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 chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782 		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 gene family 1 ISO
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 36 | ClinVar Annotator: match by term: TMC1-related condition
CTD Direct Evidence: marker/mechanism
OMIM:606705		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11850618 PMID:15354000 PMID:16134132 PMID:16199547 More... NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 36 ClinVar NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		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 susceptibility ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 37 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17999364 PMID:20513134 More... NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		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 chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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 4:127,234,892...127,247,929
Ensembl chr 4:127,244,879...127,247,874 		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 chr14:57,512,491...57,635,940
Ensembl chr14:57,512,450...57,635,986 		JBrowse link
G Eef1akmt1 EEF1A alpha lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr14:57,787,052...57,809,039
Ensembl chr14:57,787,054...57,809,069 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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 chr14:57,360,760...57,370,764
Ensembl chr14:57,360,760...57,371,068 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr14:57,762,197...57,780,623
Ensembl chr14:57,762,234...57,780,623 		JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 3b ClinVar PMID:28492532 NCBI chr14:57,814,978...57,906,951
Ensembl chr14:57,814,978...57,902,887 		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 7:119,785,603...119,801,212
Ensembl chr 7:119,785,603...119,801,334 		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, ligand-gated ion channel, 2 ISO
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition
CTD Direct Evidence: marker/mechanism
OMIM:608224		 OMIM
ClinVar
CTD
MouseDO		 PMID:12161595 PMID:23345450 PMID:24033266 PMID:24211385 PMID:25741868 More... NCBI chr 5:110,487,678...110,491,186
Ensembl chr 5:110,487,678...110,491,078 		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 chr16:27,205,815...27,270,968
Ensembl chr16:27,207,619...27,270,968 		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 chr10:127,539,306...127,556,809
Ensembl chr10:127,541,039...127,556,809 		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 IAGP OMIM:600652 MouseDO NCBI chr 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224 		JBrowse link
G Myh14 myosin, heavy polypeptide 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 7:44,255,227...44,320,296
Ensembl chr 7:44,255,227...44,320,267 		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 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 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224 		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 6:50,167,013...50,240,837
Ensembl chr 6:50,165,868...50,240,842 		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 6:30,169,445...30,169,550
Ensembl chr 6:30,169,445...30,169,550 		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 chr19:24,071,860...24,202,492
Ensembl chr19:24,071,869...24,202,394 		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 pregnancy-associated plasma protein A ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 4:65,041,993...65,276,776
Ensembl chr 4:65,042,411...65,275,746 		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 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252 		JBrowse link
G Tnfsf8 tumor necrosis factor (ligand) superfamily, member 8 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 56 ClinVar PMID:21681106 PMID:23936043 NCBI chr 4:63,749,439...63,779,745
Ensembl chr 4:63,749,545...63,779,584 		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 chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		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 chr 5:123,646,519...123,649,945
Ensembl chr 5:123,648,523...123,649,945 		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 chr 5:123,649,393...123,664,825
Ensembl chr 5:123,647,828...123,662,239 		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 chr17:24,441,518...24,470,333
Ensembl chr17:24,441,172...24,470,458 		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 chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536 		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 antigen 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 chr10:41,395,496...41,407,038
Ensembl chr10:41,395,410...41,407,044 		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 IAGP OMIM:616340 MouseDO NCBI chr 2:179,758,059...179,804,475
Ensembl chr 2:179,761,099...179,804,473 		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 scaffolding 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 7:81,250,229...81,356,673
Ensembl chr 7:81,250,229...81,357,275 		JBrowse link
autosomal dominant nonsyndromic deafness 69 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kitl 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 chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278 		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 chr 1:167,515,864...167,676,310
Ensembl chr 1:167,516,806...167,676,310 		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 6:88,860,456...88,875,762
Ensembl chr 6:88,860,456...88,875,762 		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 9:54,272,442...54,409,150
Ensembl chr 9:54,272,442...54,408,910 		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 chr17:35,133,200...35,149,412
Ensembl chr17:35,133,442...35,149,412 		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 chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912 		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 6:56,046,783...56,629,590
Ensembl chr 6:56,046,789...56,629,472 		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 chr 5:144,704,547...144,796,588
Ensembl chr 5:144,704,542...144,796,588 		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 (I-isoform) 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 9:95,634,695...95,727,359
Ensembl chr 9:95,634,695...95,727,364 		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, sub-family C member 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 77 OMIM
ClinVar		 PMID:31273342 NCBI chr16:14,179,317...14,292,743
Ensembl chr16:14,179,422...14,293,601 		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 chr18:58,011,505...58,079,893
Ensembl chr18:58,011,750...58,079,893 		JBrowse link
autosomal dominant nonsyndromic deafness 79 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scd3 stearoyl-coenzyme A desaturase 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 79 OMIM
ClinVar		 PMID:31972369 NCBI chr19:44,191,727...44,232,455
Ensembl chr19:44,191,708...44,232,455 		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 growth regulation by estrogen in breast cancer-like ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 80 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29955957 PMID:32585897 NCBI chr18:10,324,933...10,562,945
Ensembl chr18:10,325,177...10,562,940 		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/CED-12 domain containing 3 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 81 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29713870 NCBI chr 6:72,542,905...72,575,396
Ensembl chr 6:72,542,905...72,575,396 		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, Ca++ transporting, plasma membrane 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 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		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 chr13:99,557,972...99,653,110
Ensembl chr13:99,557,954...99,653,048 		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, class VI, type 11A ISO ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 84 ClinVar
OMIM		 PMID:25741868 PMID:30311386 PMID:35278131 NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728 		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 4:137,321,079...137,385,842
Ensembl chr 4:137,321,066...137,385,848 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 86 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Thoc1 THO complex 1 ISO ClinVar Annotator: match by term: Deafness, autosomal dominant 86 ClinVar
OMIM		 PMID:32776944 NCBI chr18:9,958,176...9,995,486
Ensembl chr18:9,957,906...9,995,489 		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 3:94,882,042...94,914,248
Ensembl chr 3:94,882,042...94,914,154 		JBrowse link
Autosomal Dominant Nonsyndromic Deafness 88 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Epha10 Eph receptor A10 ISO OMIM NCBI chr 4:124,775,408...124,811,594
Ensembl chr 4:124,774,692...124,811,593 		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 6:64,706,109...64,708,229
Ensembl chr 6:64,706,109...64,708,229 		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
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal dominant 9
CTD Direct Evidence: marker/mechanism
OMIM:601369		 OMIM
ClinVar
CTD
MouseDO		 PMID:8817345 PMID:9806553 PMID:9931344 PMID:10400989 PMID:11332404 More... NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554 		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 chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,314...22,508,264 		JBrowse link
autosomal dominant Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk13 cyclin dependent kinase 13 ISO ClinVar Annotator: match by term: Wolfram-like disorder ClinVar PMID:25741868 PMID:28492532 PMID:33879837 NCBI chr13:17,885,309...17,979,960
Ensembl chr13:17,884,900...17,979,682 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION | ClinVar Annotator: match by term: Wolfram-like syndrome, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9771706 PMID:9817917 PMID:9856492 PMID:10521293 PMID:10679252 More... NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		JBrowse link
autosomal recessive nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:28492532 PMID:28951997 PMID:30303587 NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		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 chr11:5,519,680...5,639,617
Ensembl chr11:5,519,684...5,639,337 		JBrowse link
G Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 IAGP OMIM:607197 MouseDO NCBI chr 6:83,719,999...83,735,837
Ensembl chr 6:83,719,972...83,735,837 		JBrowse link
G Bsnd barttin CLCNK type accessory beta subunit 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 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480 		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 chr19:4,131,469...4,137,340
Ensembl chr19:4,131,578...4,137,340 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) 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 chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		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 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		JBrowse link
G Clcnka chloride channel, voltage-sensitive Ka ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035 		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 chr16:93,715,919...93,809,733
Ensembl chr16:93,715,919...93,809,696 		JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr17:44,445,671...44,591,059
Ensembl chr17:44,445,659...44,591,059 		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 chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838 		JBrowse link
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:25741868 PMID:30303587 NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828 		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 chr12:86,407,891...86,568,402
Ensembl chr12:86,407,891...86,568,402 		JBrowse link
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr10:81,171,096...81,179,452
Ensembl chr10:81,171,099...81,179,100 		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 chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:10587579 NCBI chr 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:11090341 PMID:11138009 PMID:16679490 PMID:21940737 PMID:25741868 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		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 chr11:103,567,675...103,590,139
Ensembl chr11:103,567,675...103,588,724 		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 chr16:37,736,551...37,827,892
Ensembl chr16:37,736,858...37,827,892 		JBrowse link
G Gpsm2 G-protein signalling modulator 2 (AGS3-like, C. elegans) ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20602914 PMID:22578326 PMID:30303587 PMID:32747562 NCBI chr 3:108,585,954...108,629,637
Ensembl chr 3:108,585,954...108,629,625 		JBrowse link
G Grxcr1 glutaredoxin, cysteine rich 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:20137778 PMID:30303587 NCBI chr 5:68,189,122...68,323,741
Ensembl chr 5:68,189,178...68,323,741 		JBrowse link
G Grxcr2 glutaredoxin, cysteine rich 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr18:42,118,388...42,132,114
Ensembl chr18:42,118,388...42,132,114 		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 chr16:36,514,340...36,547,166
Ensembl chr16:36,514,340...36,547,166 		JBrowse link
G Lhfpl5 lipoma HMGIC fusion partner-like 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16459341 PMID:25741868 PMID:30177809 PMID:30298622 PMID:30303587 NCBI chr17:28,794,330...28,802,567
Ensembl chr17:28,794,615...28,804,653 		JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:25741868 PMID:25792669 More... NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626 		JBrowse link
G Marveld2 MARVEL (membrane-associating) 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 chr13:100,732,465...100,753,479
Ensembl chr13:100,732,465...100,753,479 		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 chr10:120,617,005...120,735,132
Ensembl chr10:120,617,001...120,735,006 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		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 chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		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 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		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 7:120,682,647...120,762,316
Ensembl chr 7:120,680,873...120,762,320 		JBrowse link
G Otof otoferlin IAGP
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 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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 chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		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 2:76,480,617...76,488,898
Ensembl chr 2:76,478,820...76,488,900 		JBrowse link
G Pou4f3 POU domain, class 4, transcription factor 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr18:42,527,662...42,529,158
Ensembl chr18:42,527,604...42,530,314 		JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912 		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 chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		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 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		JBrowse link
G Tmc1 transmembrane channel-like gene family 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 chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566 		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 9:110,694,755...110,709,141
Ensembl chr 9:110,694,779...110,709,181 		JBrowse link
G Tmprss3 transmembrane protease, serine 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 chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951 		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 chr17:71,980,153...72,036,666
Ensembl chr17:71,980,256...72,036,664 		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 2:25,152,610...25,159,898
Ensembl chr 2:25,152,630...25,159,897 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness, autosomal recessive ClinVar PMID:30303587 NCBI chr15:78,831,924...78,890,069
Ensembl chr15:78,831,924...78,890,069 		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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		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 chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness ClinVar PMID:30303587 NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		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 1:97,633,768...97,698,133
Ensembl chr 1:97,633,773...97,698,136 		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, cysteine rich 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 chr18:42,118,388...42,132,114
Ensembl chr18:42,118,388...42,132,114 		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 epidermal growth factor receptor pathway substrate 8 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 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874 		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 chr17:44,445,671...44,591,059
Ensembl chr17:44,445,659...44,591,059 		JBrowse link
G Dicer1 dicer 1, ribonuclease type III ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 103 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:104,654,001...104,718,331
Ensembl chr12:104,654,001...104,718,211 		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 chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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 chr13:24,685,513...24,917,789
Ensembl chr13:24,685,508...24,917,799 		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 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874 		JBrowse link
G Eps8l2 EPS8-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 106 OMIM
ClinVar		 PMID:25741868 PMID:25741905 PMID:26282398 PMID:28281779 PMID:28492532 More... NCBI chr 7:140,918,824...140,942,933
Ensembl chr 7:140,918,793...140,942,933 		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 chr11:115,969,397...115,977,821
Ensembl chr11:115,969,399...115,977,821 		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 4:99,952,988...100,302,003
Ensembl chr 4:99,952,988...100,301,962 		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 4:11,331,933...11,386,783
Ensembl chr 4:11,331,933...11,386,783 		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 chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554 		JBrowse link
autosomal recessive nonsyndromic deafness 111 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpzl2 myelin protein zero-like 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 111 | ClinVar Annotator: match by term: MPZL2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29961571 PMID:29982980 PMID:30311386 More... NCBI chr 9:44,951,595...44,965,341
Ensembl chr 9:44,951,097...44,965,313 		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 chr13:100,154,502...100,244,524
Ensembl chr13:100,154,502...100,240,578 		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 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 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224 		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 chr11:61,544,081...61,563,610
Ensembl chr11:61,544,091...61,563,610 		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 chr11:72,342,464...72,380,797
Ensembl chr11:72,342,464...72,380,730 		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 chr17:23,901,558...23,903,000
Ensembl chr17:23,901,558...23,903,000 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 117 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn2 clarin 2 ISO ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: Deafness, autosomal recessive 117 OMIM
ClinVar		 PMID:25741868 PMID:33496845 NCBI chr 5:45,611,021...45,621,824
Ensembl chr 5:45,611,093...45,621,491 		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 2:122,461,112...122,474,933
Ensembl chr 2:122,461,120...122,474,750 		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, Ca++ transporting, plasma membrane 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 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 12
CTD Direct Evidence: marker/mechanism
OMIM:601386		 OMIM
ClinVar
CTD
MouseDO		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		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 chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		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 chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 12 ClinVar PMID:25741868 NCBI chr10:60,182,630...60,266,073
Ensembl chr10:60,182,630...60,208,463 		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 chr18:59,195,264...59,210,034
Ensembl chr18:59,195,320...59,210,034 		JBrowse link
G Obscn obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 120 ClinVar NCBI chr11:58,885,082...59,027,201
Ensembl chr11:58,885,082...59,029,996 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 121 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr156 G protein-coupled receptor 156 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 121 OMIM
ClinVar		 PMID:37814107 NCBI chr16:37,736,551...37,827,892
Ensembl chr16:37,736,858...37,827,892 		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 and tetratricopeptide repeat containing 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 122 OMIM
ClinVar		 PMID:37943620 NCBI chr14:123,156,383...123,220,697
Ensembl chr14:123,156,383...123,221,447 		JBrowse link
Autosomal Recessive Nonsyndromic Deafness 123 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stx4a syntaxin 4A (placental) ISO OMIM NCBI chr 7:127,439,832...127,450,160
Ensembl chr 7:127,423,466...127,448,191 		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 chr10:81,171,096...81,179,452
Ensembl chr10:81,171,099...81,179,100 		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 2:121,222,109...121,245,082
Ensembl chr 2:121,223,112...121,244,273 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1, ubiquitous ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 2:121,188,257...121,194,218
Ensembl chr 2:121,188,195...121,194,218 		JBrowse link
G Frmd5 FERM domain containing 5 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 2:121,376,010...121,637,580
Ensembl chr 2:121,376,010...121,637,568 		JBrowse link
G Pdia3 protein disulfide isomerase associated 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 2:121,244,383...121,269,168
Ensembl chr 2:121,244,256...121,269,168 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 16 ClinVar PMID:25741868 NCBI chr 2:121,141,038...121,186,138
Ensembl chr 2:121,141,042...121,185,877 		JBrowse link
G Strc stereocilin ISO
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 16 | ClinVar Annotator: match by term: STRC-related condition
CTD Direct Evidence: marker/mechanism
OMIM:603720		 OMIM
ClinVar
CTD
MouseDO		 PMID:11687802 PMID:18414213 PMID:21078986 PMID:21681106 PMID:22147502 More... NCBI chr 2:121,193,729...121,211,851
Ensembl chr 2:121,194,209...121,217,649 		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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
autosomal recessive nonsyndromic deafness 18A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ush1c USH1 protein network component harmonin ISO
IAGP
IMP		 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A
CTD Direct Evidence: marker/mechanism
OMIM:602092		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:9536098 PMID:9760205 PMID:10973247 PMID:10973248 PMID:11139240 More... RGD:8694458 NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		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
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition
CTD Direct Evidence: marker/mechanism
OMIM:614945		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10655058 PMID:16199547 PMID:17576681 PMID:23122587 More... NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858 		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 chr14:57,512,491...57,635,940
Ensembl chr14:57,512,450...57,635,986 		JBrowse link
G Eef1akmt1 EEF1A alpha lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,787,052...57,809,039
Ensembl chr14:57,787,054...57,809,069 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
CTD Direct Evidence: marker/mechanism
OMIM:220290		 OMIM
ClinVar
CTD
MouseDO		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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
CTD		 PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637 		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 4:127,234,892...127,247,929
Ensembl chr 4:127,244,879...127,247,874 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6
CTD Direct Evidence: marker/mechanism
OMIM:220290		 OMIM
ClinVar
CTD
MouseDO		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr14:57,360,760...57,370,764
Ensembl chr14:57,360,760...57,371,068 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,762,197...57,780,623
Ensembl chr14:57,762,234...57,780,623 		JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr14:57,814,978...57,906,951
Ensembl chr14:57,814,978...57,902,887 		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 chr14:57,512,491...57,635,940
Ensembl chr14:57,512,450...57,635,986 		JBrowse link
G Eef1akmt1 EEF1A alpha lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr14:57,787,052...57,809,039
Ensembl chr14:57,787,054...57,809,069 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr14:57,271,917...57,295,487
Ensembl chr14:57,271,917...57,295,557 		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 chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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 chr14:57,360,760...57,370,764
Ensembl chr14:57,360,760...57,371,068 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr14:57,661,519...57,755,393
Ensembl chr14:57,661,519...57,755,393 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr14:57,762,197...57,780,623
Ensembl chr14:57,762,234...57,780,623 		JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1b ClinVar PMID:28492532 NCBI chr14:57,814,978...57,906,951
Ensembl chr14:57,814,978...57,902,887 		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
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2
CTD Direct Evidence: marker/mechanism
OMIM:600060		 OMIM
ClinVar
CTD
MouseDO		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:7951250 PMID:8900236 More... NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		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 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		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 7:120,663,290...120,673,753
Ensembl chr 7:120,663,290...120,673,795 		JBrowse link
G Mettl9 methyltransferase like 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 22 ClinVar PMID:25741868 PMID:33492714 NCBI chr 7:120,631,717...120,676,058
Ensembl chr 7:120,633,668...120,677,552 		JBrowse link
G Otoa otoancorin ISO
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 22 | ClinVar Annotator: match by term: OTOA-related condition
CTD Direct Evidence: marker/mechanism
OMIM:607039		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11972037 PMID:16199547 PMID:17576681 PMID:19888295 More... NCBI chr 7:120,682,647...120,762,316
Ensembl chr 7:120,680,873...120,762,320 		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 7:120,234,412...120,258,746
Ensembl chr 7:120,234,399...120,258,747 		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 15 ISO
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 23
CTD Direct Evidence: marker/mechanism
OMIM:609533		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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:25741916 More... NCBI chr 9:51,958,450...52,000,038
Ensembl chr 9:51,958,473...52,011,763 		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, cysteine rich 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 chr 5:68,189,122...68,323,741
Ensembl chr 5:68,189,178...68,323,741 		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 growth factor receptor bound protein 2-associated 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 chr 8:81,491,060...81,607,151
Ensembl chr 8:81,491,067...81,607,148 		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 triple functional domain (PTPRF interacting) ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 28 ClinVar PMID:25741868 PMID:28492532 PMID:32109419 NCBI chr15:27,730,735...28,025,954
Ensembl chr15:27,730,737...28,025,934 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition
CTD Direct Evidence: marker/mechanism
OMIM:609823		 OMIM
ClinVar
CTD
MouseDO		 PMID:16385457 PMID:16385458 PMID:20510926 PMID:23967202 PMID:24033266 More... NCBI chr15:78,831,924...78,890,069
Ensembl chr15:78,831,924...78,890,069 		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
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 29
OMIM:614035		 OMIM
CTD
ClinVar
MouseDO		 PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:23590985 More... NCBI chr16:93,715,919...93,809,733
Ensembl chr16:93,715,919...93,809,696 		JBrowse link
autosomal recessive nonsyndromic deafness 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Myo15a myosin XVA ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:600316		 OMIM
ClinVar
CTD
MouseDO		 PMID:2574186 PMID:7616538 PMID:7704031 PMID:9536098 PMID:9603736 More... NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		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
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 30 | ClinVar Annotator: match by term: MYO3A-related condition
CTD Direct Evidence: marker/mechanism
OMIM:607101		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:12032315 PMID:17344846 PMID:17576681 PMID:21165622 More... NCBI chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,314...22,508,264 		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
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF
CTD Direct Evidence: marker/mechanism
OMIM:607084		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11973626 PMID:12833159 PMID:15841483 PMID:17576681 More... NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		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 CDC14 cell division cycle 14A ISO
IAGP		 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 3:116,066,202...116,222,390
Ensembl chr 3:116,066,202...116,222,394 		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 chr12:86,407,891...86,568,402
Ensembl chr12:86,407,891...86,568,402 		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 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828 		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
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 37 | ClinVar Annotator: match by term: MYO6-related condition
CTD Direct Evidence: marker/mechanism
OMIM:607821		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11167014 PMID:12687499 PMID:16199547 PMID:17576681 More... NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		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
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 39
OMIM:608265
DNA:deletions,mutation:intron,exon:		 OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:18564920 PMID:19576567 PMID:24033266 PMID:25741868 PMID:28492532 More... RGD:8548545 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		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 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 PMID:33111345 NCBI chr 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224 		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 chr11:34,154,341...34,158,089
Ensembl chr11:34,154,338...34,158,089 		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 chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652 		JBrowse link
G Lmna lamin A 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 3:88,388,455...88,413,842
Ensembl chr 3:88,387,454...88,417,263 		JBrowse link
G Lpin2 lipin 2 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 4 ClinVar PMID:20032092 PMID:20645851 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:71,490,527...71,556,813
Ensembl chr17:71,489,555...71,556,812 		JBrowse link
G Slc26a4 solute carrier family 26, member 4 ISO
IMP		 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 chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		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
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 42 | ClinVar Annotator: match by term: ILDR1-related condition
CTD Direct Evidence: marker/mechanism
OMIM:609646		 OMIM
ClinVar
CTD
MouseDO		 PMID:15641023 PMID:21255762 PMID:24033266 PMID:25668204 PMID:25741868 More... NCBI chr16:36,514,340...36,547,166
Ensembl chr16:36,514,340...36,547,166 		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 chr11:7,013,433...7,128,506
Ensembl chr11:7,013,489...7,128,506 		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
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 48
CTD Direct Evidence: marker/mechanism
OMIM:609439		 OMIM
ClinVar
CTD
MouseDO		 PMID:23023331 PMID:24033266 PMID:25741868 PMID:26173970 PMID:26214305 More... NCBI chr 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		JBrowse link
G Sh2d7 SH2 domain containing 7 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 48 ClinVar PMID:25741868 NCBI chr 9:54,441,407...54,452,314
Ensembl chr 9:54,441,430...54,452,304 		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 (membrane-associating) domain containing 2 ISO
IAGP		 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:610153		 OMIM
CTD
ClinVar
MouseDO		 PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:23767834 More... NCBI chr13:100,732,465...100,753,479
Ensembl chr13:100,732,465...100,753,479 		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 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 chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		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 chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		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
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 59
CTD Direct Evidence: marker/mechanism
OMIM:610220		 OMIM
ClinVar
CTD
MouseDO		 PMID:16804542 PMID:17301963 PMID:17329413 PMID:17373699 PMID:17718865 More... NCBI chr 2:76,480,617...76,488,898
Ensembl chr 2:76,478,820...76,488,900 		JBrowse link
G Prkra protein kinase, interferon inducible double stranded RNA dependent activator ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 59 ClinVar NCBI chr 2:76,436,385...76,478,614
Ensembl chr 2:76,460,242...76,478,359 		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 9:110,694,755...110,709,141
Ensembl chr 9:110,694,779...110,709,181 		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 5:22,013,999...22,070,602
Ensembl chr 5:22,015,653...22,070,602 		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 C 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 7:101,530,508...101,551,056
Ensembl chr 7:101,512,922...101,551,056 		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 7:101,562,196...101,583,126
Ensembl chr 7:101,562,191...101,583,102 		JBrowse link
G Numa1 nuclear mitotic apparatus protein 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 63 ClinVar NCBI chr 7:101,583,169...101,664,166
Ensembl chr 7:101,583,318...101,664,171 		JBrowse link
G Tomt transmembrane O-methyltransferase ISO
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 63
CTD Direct Evidence: marker/mechanism
OMIM:611451		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:17211611 PMID:17576681 PMID:18794526 PMID:18953341 More... NCBI chr 7:101,549,010...101,555,572
Ensembl chr 7:101,547,577...101,555,566 		JBrowse link
autosomal recessive nonsyndromic deafness 66 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcdc2a doublecortin domain containing 2a 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 chr13:25,239,126...25,394,689
Ensembl chr13:25,239,987...25,394,689 		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 lipoma HMGIC fusion partner-like 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:25741905 More... NCBI chr17:28,794,330...28,802,567
Ensembl chr17:28,794,615...28,804,653 		JBrowse link
autosomal recessive nonsyndromic deafness 68 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G S1pr2 sphingosine-1-phosphate receptor 2 IAGP
ISO		 OMIM:610419
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 68		 MouseDO
CTD
ClinVar
OMIM		 PMID:16703383 PMID:24033266 PMID:24824130 PMID:25741868 PMID:26805784 More... NCBI chr 9:20,877,248...20,888,089
Ensembl chr 9:20,873,657...20,888,077 		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 7:120,682,647...120,762,316
Ensembl chr 7:120,680,873...120,762,320 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 7 ClinVar PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		JBrowse link
G Tmc1 transmembrane channel-like gene family 1 ISO
IAGP		 ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: Deafness, autosomal recessive 7
CTD Direct Evidence: marker/mechanism
OMIM:600974		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11850618 PMID:16134132 PMID:16199547 PMID:16287143 More... NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566 		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 chr11:29,080,236...29,112,010
Ensembl chr11:29,080,744...29,111,828 		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
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 74
OMIM:613718		 OMIM
CTD
ClinVar
MouseDO		 PMID:19650862 PMID:21185009 PMID:25741868 PMID:30303587 NCBI chr10:120,617,005...120,735,132
Ensembl chr10:120,617,001...120,735,006 		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 7:30,014,268...30,018,471
Ensembl chr 7:30,014,232...30,018,471 		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 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 chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626 		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 2:25,145,451...25,146,364
Ensembl chr 2:25,145,451...25,146,304 		JBrowse link
G Tprn taperin ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 79
OMIM:613307		 OMIM
CTD
ClinVar
MouseDO		 PMID:20170898 PMID:20170899 PMID:24033266 PMID:25741868 PMID:26969326 More... NCBI chr 2:25,152,610...25,159,898
Ensembl chr 2:25,152,630...25,159,897 		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 protease, serine 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 chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951 		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 chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912 		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 chr10:107,596,391...107,748,240
Ensembl chr10:107,596,392...107,747,995 		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 chr17:24,441,518...24,470,333
Ensembl chr17:24,441,172...24,470,458 		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 chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536 		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/CED-12 domain containing 3 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, autosomal recessive 88
OMIM:615429		 OMIM
CTD
ClinVar
MouseDO		 PMID:24039609 PMID:25741868 PMID:28492532 NCBI chr 6:72,542,905...72,575,396
Ensembl chr 6:72,542,905...72,575,396 		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 chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955 		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, mitochondrion-associated 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		JBrowse link
G Cep135 centrosomal protein 135 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:28866084 NCBI chr 5:76,736,495...76,794,313
Ensembl chr 5:76,736,545...76,794,313 		JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr18:37,976,654...38,068,573
Ensembl chr18:37,976,654...38,068,529 		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 chr13:23,805,760...23,806,541
Ensembl chr13:23,804,612...23,806,541 		JBrowse link
G Igsf6 immunoglobulin superfamily, member 6 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 7:120,663,290...120,673,753
Ensembl chr 7:120,663,290...120,673,795 		JBrowse link
G Mettl9 methyltransferase like 9 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 7:120,631,717...120,676,058
Ensembl chr 7:120,633,668...120,677,552 		JBrowse link
G mt-Nd6 NADH dehydrogenase 6, mitochondrial ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr MT:13,552...14,070
Ensembl chr MT:13,552...14,070 		JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		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 chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:25741868 NCBI chr 7:120,682,647...120,762,316
Ensembl chr 7:120,680,873...120,762,320 		JBrowse link
G Otof otoferlin ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:601071
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
CTD
MouseDO
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 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276 		JBrowse link
G Plp1 proteolipid protein (myelin) 1 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:135,720,897...135,739,331
Ensembl chr  X:135,723,420...135,740,482 		JBrowse link
G Rab33a RAB33A, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:47,602,540...47,619,112
Ensembl chr  X:47,608,162...47,619,109 		JBrowse link
G Rab9b RAB9B, member RAS oncogene family ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr  X:135,758,896...135,769,305
Ensembl chr  X:135,758,896...135,769,504 		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 chr11:59,995,743...60,090,023
Ensembl chr11:59,995,839...60,090,023 		JBrowse link
G Slc17a8 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar PMID:27068579 PMID:28492532 NCBI chr10:89,409,882...89,457,111
Ensembl chr10:89,409,882...89,457,115 		JBrowse link
G Slc52a2 solute carrier protein 52, member 2 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr15:76,422,994...76,432,078
Ensembl chr15:76,423,032...76,428,808 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Auditory neuropathy spectrum disorder ClinVar NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536 		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 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		JBrowse link
G Ttr transthyretin ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 9 ClinVar PMID:14640030 PMID:15123043 PMID:15299640 PMID:15645642 PMID:17338921 More... NCBI chr18:20,797,266...20,807,383
Ensembl chr18:20,798,337...20,807,378 		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 chr17:57,387,061...57,394,600
Ensembl chr17:57,387,066...57,394,782 		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 serine (or cysteine) peptidase inhibitor, clade 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 chr13:34,101,901...34,186,777
Ensembl chr13:34,101,901...34,186,777 		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
IAGP		 ClinVar Annotator: match by term: Deafness, autosomal recessive 93
CTD Direct Evidence: marker/mechanism
OMIM:614899		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:17576681 PMID:22981119 PMID:24033266 PMID:25741868 More... NCBI chr19:4,131,469...4,137,340
Ensembl chr19:4,131,578...4,137,340 		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)(putative) 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 7:96,600,698...96,725,606
Ensembl chr 7:96,600,712...96,713,965 		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 susceptibility 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 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
autosomal recessive nonsyndromic deafness 98 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Krtap10-23 keratin associated protein 10-23 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 98 ClinVar PMID:25741868 NCBI chr10:77,617,567...77,618,449
Ensembl chr10:77,617,684...77,618,376 		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 chr10:77,521,942...77,722,844
Ensembl chr10:77,522,403...77,722,855 		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 chr11:82,279,281...82,338,447
Ensembl chr11:82,279,726...82,337,158 		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 (sodium/hydrogen exchanger), member 1 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 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013 		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 cytochrome c oxidase I, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial 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:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
G mt-Rnr1 12S rRNA, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness, sensorineural, autosomal-mitochondrial type		 CTD
ClinVar		 PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024 		JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938 		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 chr 8:116,429,992...116,433,633
Ensembl chr 8:116,409,681...116,434,533 		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 chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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 beta subunit ISO
IAGP		 ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Bartter disease type 4A
CTD Direct Evidence: marker/mechanism
OMIM:602522		 OMIM
ClinVar
CTD
MouseDO		 PMID:9463315 PMID:11687798 PMID:11734858 PMID:12111250 PMID:12574213 More... NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480 		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 channel, voltage-sensitive 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 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035 		JBrowse link
G Clcnkb chloride channel, voltage-sensitive 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 4:141,131,668...141,143,440
Ensembl chr 4:141,131,664...141,143,325 		JBrowse link
Behr syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss | ClinVar Annotator: match by term: Optic atrophy, infantile hereditary, Behr complicated form of		 CTD
OMIM
ClinVar		 PMID:9490303 PMID:9536098 PMID:9917792 PMID:11017079 PMID:11440988 More... NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		JBrowse link
Bilateral Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo3a myosin IIIA ISO DFNB30, OMIM:607101, DNA:point mutation:exon:Y1043X RGD PMID:12032315 RGD:1600555 NCBI chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,314...22,508,264 		JBrowse link
G Nefh neurofilament, heavy polypeptide disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064 		JBrowse link
G Slc26a4 solute carrier family 26, member 4 ISO associated with Enlarged Vestibular Aqueduct;DNA:missense mutation:cds:p.V138L (human) RGD PMID:19645628 RGD:7411669 NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		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 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602 		JBrowse link
BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kmt2d lysine (K)-specific methyltransferase 2D ISO ClinVar Annotator: match by term: Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome | ClinVar Annotator: match by term: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome OMIM
ClinVar		 PMID:12002153 PMID:25590979 PMID:25741868 PMID:28492532 PMID:31949313 More... NCBI chr15:98,729,550...98,771,958
Ensembl chr15:98,729,550...98,769,085 		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 protein 52, member 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr15:76,422,994...76,432,078
Ensembl chr15:76,423,032...76,428,808 		JBrowse link
G Slc52a3 solute carrier protein 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 2:151,838,431...151,851,178
Ensembl chr 2:151,838,431...151,851,178 		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 polypeptide 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 2:152,068,468...152,123,772
Ensembl chr 2:152,068,759...152,123,772 		JBrowse link
G Rbck1 RanBP-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 2:152,158,254...152,174,592
Ensembl chr 2:152,158,254...152,174,573 		JBrowse link
G Scrt2 scratch family zinc finger 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 2:151,923,737...151,937,722
Ensembl chr 2:151,923,449...151,937,722 		JBrowse link
G Slc52a2 solute carrier protein 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 chr15:76,422,994...76,432,078
Ensembl chr15:76,423,032...76,428,808 		JBrowse link
G Slc52a3 solute carrier protein 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 2:151,838,431...151,851,178
Ensembl chr 2:151,838,431...151,851,178 		JBrowse link
G Srxn1 sulfiredoxin 1 homolog (S. cerevisiae) 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 2:151,946,738...151,953,296
Ensembl chr 2:151,947,436...151,953,296 		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 2:152,135,745...152,155,914
Ensembl chr 2:152,135,748...152,155,916 		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 2:151,984,973...151,991,017
Ensembl chr 2:151,985,481...151,991,017 		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 2810039B14Rik RIKEN cDNA 2810039B14 gene 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 chr15:75,513,232...75,519,286
Ensembl chr15:75,515,335...75,518,816 		JBrowse link
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 chr15:76,460,559...76,480,012
Ensembl chr15:76,460,558...76,480,016 		JBrowse link
G Bop1 block of proliferation 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 chr15:76,337,188...76,361,449
Ensembl chr15:76,337,189...76,361,477 		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 chr15:75,851,721...75,854,134
Ensembl chr15:75,851,721...75,854,304 		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 chr15:76,480,008...76,491,861
Ensembl chr15:76,480,003...76,491,791 		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 chr15:76,227,711...76,230,460
Ensembl chr15:76,227,723...76,230,460 		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 chr15:76,386,215...76,396,167
Ensembl chr15:76,386,215...76,396,153 		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 chr15:75,766,643...75,781,425
Ensembl chr15:75,766,054...75,781,405 		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 chr15:75,973,337...76,004,395
Ensembl chr15:75,973,330...76,004,395 		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 chr15:76,211,597...76,214,870
Ensembl chr15:76,211,597...76,214,877 		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 chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185 		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 chr15:76,419,923...76,422,946
Ensembl chr15:76,419,921...76,422,946 		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 chr15:76,552,029...76,554,286
Ensembl chr15:76,552,425...76,554,148 		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 chr15:75,796,532...75,801,613
Ensembl chr15:75,796,525...75,801,681 		JBrowse link
G Gm14444 predicted gene 14444 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 2:174,858,456...174,861,241
Ensembl chr 2:174,852,002...174,861,041 		JBrowse link
G Gpaa1 GPI anchor attachment 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 chr15:76,215,494...76,219,099
Ensembl chr15:76,215,431...76,219,107 		JBrowse link
G Gpihbp1 GPI-anchored HDL-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 chr15:75,468,479...75,470,062
Ensembl chr15:75,468,477...75,471,330 		JBrowse link
G Grina glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) 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 chr15:76,130,917...76,134,109
Ensembl chr15:76,130,964...76,134,104 		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 chr15:75,733,990...75,739,257
Ensembl chr15:75,734,176...75,739,257 		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 chr15:76,253,064...76,256,056
Ensembl chr15:76,253,098...76,255,637 		JBrowse link
G Hsf1 heat shock 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 chr15:76,361,562...76,385,355
Ensembl chr15:76,361,622...76,386,113 		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 chr15:76,543,984...76,552,396
Ensembl chr15:76,544,058...76,552,396 		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 chr15:76,235,494...76,238,578
Ensembl chr15:76,235,494...76,238,580 		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 chr15:75,617,350...75,620,170
Ensembl chr15:75,617,339...75,620,077 		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 chr15:75,865,581...75,871,002
Ensembl chr15:75,865,618...75,871,003 		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 chr15:76,264,638...76,337,239
Ensembl chr15:76,264,461...76,337,238 		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 chr15:75,753,085...75,762,544
Ensembl chr15:75,755,986...75,760,619 		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 chr15:75,762,812...75,766,330
Ensembl chr15:75,762,805...75,766,330 		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 chr15:75,957,364...75,963,539
Ensembl chr15:75,957,367...75,963,476 		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 chr15:76,180,803...76,215,381
Ensembl chr15:76,180,801...76,212,215 		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 chr15:76,117,195...76,127,640
Ensembl chr15:76,115,374...76,127,641 		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 chr15:76,055,174...76,115,578
Ensembl chr15:76,055,174...76,116,774 		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 chr15:75,942,031...75,954,386
Ensembl chr15:75,942,031...75,952,773 		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 chr15:75,788,319...75,793,369
Ensembl chr15:75,788,326...75,793,409 		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 chr15:75,576,097...75,586,268
Ensembl chr15:75,576,129...75,587,334 		JBrowse link
G Scrib scribbled planar cell polarity 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 chr15:75,919,011...75,941,633
Ensembl chr15:75,919,007...75,941,633 		JBrowse link
G Scrt1 scratch family zinc finger 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 chr15:76,400,403...76,406,329
Ensembl chr15:76,400,403...76,406,699 		JBrowse link
G Scx scleraxis 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 chr15:76,341,594...76,343,668
Ensembl chr15:76,341,652...76,343,658 		JBrowse link
G Sharpin SHANK-associated RH domain interacting 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 chr15:76,231,240...76,235,310
Ensembl chr15:76,231,240...76,235,311 		JBrowse link
G Slc39a4 solute carrier family 39 (zinc transporter), 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 chr15:76,496,583...76,501,579
Ensembl chr15:76,496,583...76,501,584 		JBrowse link
G Slc52a2 solute carrier protein 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 chr15:76,422,994...76,432,078
Ensembl chr15:76,423,032...76,428,808 		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 chr15:76,150,731...76,176,777
Ensembl chr15:76,152,289...76,176,772 		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 chr15:75,781,584...75,786,384
Ensembl chr15:75,781,584...75,786,384 		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 chr15:76,417,411...76,419,197
Ensembl chr15:76,417,413...76,419,566 		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 chr15:76,510,437...76,524,129
Ensembl chr15:76,510,202...76,524,158 		JBrowse link
G Top1mt DNA topoisomerase 1, 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 chr15:75,528,878...75,551,184
Ensembl chr15:75,528,884...75,550,649 		JBrowse link
G Vps28 vacuolar protein sorting 28 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 chr15:76,506,286...76,510,284
Ensembl chr15:76,506,287...76,510,286 		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 chr15:75,626,279...75,713,772
Ensembl chr15:75,626,279...75,713,764 		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 chr15:75,486,972...75,501,676
Ensembl chr15:75,488,528...75,501,676 		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 chr15:75,812,798...75,821,251
Ensembl chr15:75,812,801...75,821,249 		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 chr15:75,840,972...75,847,717
Ensembl chr15:75,840,972...75,847,717 		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 chr15:76,527,586...76,541,120
Ensembl chr15:76,531,127...76,541,120
Ensembl chr15:76,531,127...76,541,120 		JBrowse link
Burn-McKeown syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adnp2 ADNP homeobox 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,169,523...80,195,284
Ensembl chr18:80,169,526...80,194,697 		JBrowse link
G Atp9b ATPase, class II, type 9B ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,777,356...80,977,291
Ensembl chr18:80,777,356...80,977,275 		JBrowse link
G Ctdp1 CTD phosphatase subunit 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,451,174...80,522,959
Ensembl chr18:80,451,174...80,512,910 		JBrowse link
G Galr1 galanin receptor 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:82,410,621...82,424,902
Ensembl chr18:82,410,505...82,424,902 		JBrowse link
G Hsbp1l1 heat shock factor binding protein 1-like 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,272,154...80,293,329
Ensembl chr18:80,272,973...80,290,317 		JBrowse link
G Kcng2 potassium voltage-gated channel, subfamily G, member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,337,731...80,407,469
Ensembl chr18:80,337,761...80,407,469 		JBrowse link
G Mbp myelin basic protein ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:82,492,883...82,603,762
Ensembl chr18:82,493,271...82,603,762 		JBrowse link
G Nfatc1 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,649,418...80,756,286
Ensembl chr18:80,649,420...80,756,286 		JBrowse link
G Pard6g par-6 family cell polarity regulator gamma ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,090,045...80,162,855
Ensembl chr18:80,090,105...80,162,854 		JBrowse link
G Rbfa ribosome binding factor A ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,235,479...80,243,873
Ensembl chr18:80,235,480...80,243,873 		JBrowse link
G Sall3 spalt like transcription factor 3 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:81,010,204...81,030,236
Ensembl chr18:81,009,591...81,029,986 		JBrowse link
G Slc66a2 solute carrier family 66 member 2 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:80,298,458...80,335,940
Ensembl chr18:80,296,507...80,335,940 		JBrowse link
G Txnl4a thioredoxin-like 4A ISO ClinVar Annotator: match by term: Bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance | ClinVar Annotator: match by term: Burn-McKeown syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutations,deletions:promoter, cds:
DNA:deletions:promoter:		 OMIM
ClinVar
CTD
RGD		 PMID:1342861 PMID:14564154 PMID:16523509 PMID:25434003 PMID:25741868 More... RGD:11531484, RGD:155882456 NCBI chr18:80,250,041...80,269,066
Ensembl chr18:80,249,980...80,255,956
Ensembl chr18:80,249,980...80,255,956 		JBrowse link
G Zfp236 zinc finger protein 236 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:82,611,718...82,711,044
Ensembl chr18:82,611,718...82,711,008 		JBrowse link
G Zfp516 zinc finger protein 516 ISO ClinVar Annotator: match by term: Burn-McKeown syndrome ClinVar PMID:25434003 NCBI chr18:82,925,324...83,023,439
Ensembl chr18:82,928,788...83,023,439 		JBrowse link
camptodactyly-tall stature-scoliosis-hearing loss syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Camptodactyly, tall stature, and hearing loss syndrome | ClinVar Annotator: match by term: Camptodactyly-tall stature-scoliosis-hearing loss syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		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, alpha 3 polypeptide 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 7:24,677,592...24,705,338
Ensembl chr 7:24,677,592...24,705,383 		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 isoleucine-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 chr 1:185,018,839...185,061,615
Ensembl chr 1:185,016,923...185,061,593 		JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dkc1 dyskeratosis congenita 1, dyskerin ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 ClinVar
OMIM		 PMID:32554502 NCBI chr  X:74,139,460...74,153,382
Ensembl chr  X:74,139,460...74,153,383 		JBrowse link
Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nop10 NOP10 ribonucleoprotein ISO ClinVar Annotator: match by term: Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 ClinVar
OMIM		 PMID:32554502 NCBI chr 2:112,092,271...112,093,243
Ensembl chr 2:112,092,271...112,093,614 		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:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Pmp22 peripheral myelin protein 22 IAGP
ISO		 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		 MouseDO
CTD
ClinVar
OMIM		 PMID:7139106 PMID:7829101 PMID:8995589 PMID:9324088 PMID:9544841 More... NCBI chr11:63,019,808...63,050,373
Ensembl chr11:63,019,808...63,050,373 		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 chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699 		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, mitochondrion-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:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		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:47,602,540...47,619,112
Ensembl chr  X:47,608,162...47,619,109 		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:139,357,352...139,376,889
Ensembl chr  X:139,357,362...139,376,889 		JBrowse link
CHIME syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome | ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 5 | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:CDS:c.500T>C (p.L167P) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:3041916 PMID:7666399 PMID:8893234 PMID:16199547 PMID:18414213 More... RGD:243048422 NCBI chr11:62,349,267...62,406,863
Ensembl chr11:62,349,286...62,405,243 		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 3:108,561,194...108,586,156
Ensembl chr 3:108,561,229...108,586,156 		JBrowse link
G Gpsm2 G-protein signalling modulator 2 (AGS3-like, C. elegans) 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 3:108,585,954...108,629,637
Ensembl chr 3:108,585,954...108,629,625 		JBrowse link
COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanogenesis associated transcription factor susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		 CTD
OMIM
ClinVar		 PMID:8659547 PMID:16199547 PMID:20127975 PMID:25741868 PMID:27889061 More... NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc3 DnaJ heat shock protein family (Hsp40) member C3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus		 OMIM
CTD
ClinVar		 PMID:25466870 PMID:25741868 PMID:28940199 PMID:32738013 PMID:33486469 NCBI chr14:119,175,371...119,219,114
Ensembl chr14:119,175,388...119,219,109 		JBrowse link
G Dnajc6 DnaJ heat shock protein family (Hsp40) member C6 ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:2256350 PMID:22563501 PMID:24220513 PMID:32214227 PMID:33983693 NCBI chr 4:101,353,751...101,499,996
Ensembl chr 4:101,353,828...101,499,996 		JBrowse link
G Mafa MAF bZIP transcription factor A ISO ClinVar Annotator: match by term: Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus ClinVar PMID:25741868 NCBI chr15:75,617,350...75,620,170
Ensembl chr15:75,617,339...75,620,077 		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 protein 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 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301 		JBrowse link
Conductive Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10471511 NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459 		JBrowse link
G Nog noggin IMP RGD PMID:18096605 RGD:12801451 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		JBrowse link
G Tbx1 T-box 1 IAGP DNA:missense mutation:CDS:p.W118R (mouse) RGD PMID:28105375 RGD:155663349 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss ClinVar PMID:25741868 PMID:27588451 PMID:27588452 PMID:27627988 PMID:28492532 NCBI chr19:15,933,134...15,962,396
Ensembl chr19:15,933,137...15,962,353 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep78 centrosomal protein 78 ISO ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr19:15,933,134...15,962,396
Ensembl chr19:15,933,137...15,962,353 		JBrowse link
Cone-Rod Dystrophy and Hearing Loss 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: CEP250-related condition | ClinVar Annotator: match by term: Cone-rod dystrophy and hearing loss 2 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24780881 PMID:25741868 PMID:28492532 More... NCBI chr 2:155,798,197...155,840,820
Ensembl chr 2:155,798,378...155,840,820 		JBrowse link
Congenital Cataracts, Hearing Loss, and Neurodegeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc33a1 solute carrier family 33 (acetyl-CoA transporter), member 1 ISO ClinVar Annotator: match by term: Huppke-Brendel syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15902551 PMID:22243965 PMID:22508683 PMID:25741868 PMID:27306358 More... NCBI chr 3:63,849,744...63,872,154
Ensembl chr 3:63,840,928...63,872,189 		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 7:144,392,349...144,397,085
Ensembl chr 7:144,391,820...144,398,173 		JBrowse link
G LOC109115962 Fgf3 proximal promoter region ISO ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) ClinVar PMID:18435799 PMID:21480479 PMID:22993869 PMID:25741868 PMID:28492532 More... NCBI chr 7:144,390,672...144,392,357 JBrowse link
Congenital Myopathy with Neuropathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sptbn4 spectrin beta, non-erythrocytic 4 ISO ClinVar Annotator: match by term: Myopathy, congenital, with neuropathy and deafness OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28540413 PMID:29861105 PMID:34440880 NCBI chr 7:27,055,808...27,147,128
Ensembl chr 7:27,055,808...27,147,111 		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, sodium bicarbonate transporter-like, 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 2:130,526,027...130,539,439
Ensembl chr 2:130,526,033...130,539,439 		JBrowse link
craniofacial-deafness-hand syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC107980439 Pax3 promoter region ISO ClinVar Annotator: match by term: Craniofacial-deafness-hand syndrome ClinVar NCBI chr 1:78,173,337...78,175,327 JBrowse link
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 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		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 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Vps13b vacuolar protein sorting 13B ISO ClinVar Annotator: match by term: Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness ClinVar PMID:25741868 PMID:26539891 PMID:28492532 NCBI chr15:35,371,264...35,931,375
Ensembl chr15:35,371,306...35,931,375 		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 chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Pitx2 paired-like homeodomain transcription factor 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 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240 		JBrowse link
Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ak2 adenylate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19043416 NCBI chr 4:128,887,017...128,905,322
Ensembl chr 4:128,885,751...128,905,322 		JBrowse link
G Aqp4 aquaporin 4 IMP RGD PMID:11406631 RGD:734598 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039 		JBrowse link
G Bdnf brain derived neurotrophic factor treatment ISO
IDA		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:18607918 PMID:19365690 PMID:21452221 PMID:23150788 RGD:8639313, RGD:8655576 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr13:100,154,502...100,244,524
Ensembl chr13:100,154,502...100,240,578 		JBrowse link
G Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit IMP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15357422 PMID:10929716 RGD:1300292 NCBI chr14:29,761,898...30,213,113
Ensembl chr14:29,761,896...30,213,412 		JBrowse link
G Cdc14a CDC14 cell division cycle 14A ISO CTD Direct Evidence: marker/mechanism CTD PMID:29293958 NCBI chr 3:116,066,202...116,222,390
Ensembl chr 3:116,066,202...116,222,394 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Clcnka chloride channel, voltage-sensitive Ka ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035 		JBrowse link
G Cldn14 claudin 14 susceptibility ISO DNA:deletion, missense mutation: :398delT, p.V85D
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:11163249 PMID:11163249 RGD:1600866 NCBI chr16:93,715,919...93,809,733
Ensembl chr16:93,715,919...93,809,696 		JBrowse link
G Coch cochlin susceptibility ISO deafness, autosomal dominant nonsyndromic sensorineural 9, OMIM:9601369;DNA:missense mutations RGD PMID:9806553 RGD:1600878 NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554 		JBrowse link
G Crym crystallin, mu ISO DNA:missense mutation:cds:p.K314T (human) RGD PMID:12471561 RGD:734836 NCBI chr 7:119,785,603...119,801,212
Ensembl chr 7:119,785,603...119,801,334 		JBrowse link
G Eps8 epidermal growth factor receptor pathway substrate 8 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 NCBI chr 6:137,454,242...137,626,262
Ensembl chr 6:137,454,243...137,631,874 		JBrowse link
G Espn espin IAGP
ISO		 CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:15286153 PMID:15930085 PMID:10975527 RGD:734943 NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828 		JBrowse link
G Esr2 estrogen receptor 2 (beta) IMP RGD PMID:19293293 RGD:8553051 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033 		JBrowse link
G Gjb1 gap junction protein, beta 1 treatment IDA RGD PMID:21813206 RGD:7364894 NCBI chr  X:100,419,982...100,429,235
Ensembl chr  X:100,419,984...100,429,235 		JBrowse link
G Gjb2 gap junction protein, beta 2 IMP
ISO		 ClinVar Annotator: match by term: Deafness
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:2706105 PMID:9285800 PMID:9328482 PMID:9336442 PMID:9482292 More... RGD:7364799 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9843210 NCBI chr 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637 		JBrowse link
G Gpsm2 G-protein signalling modulator 2 (AGS3-like, C. elegans) ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 3:108,585,954...108,629,637
Ensembl chr 3:108,585,954...108,629,625 		JBrowse link
G Grxcr1 glutaredoxin, cysteine rich 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 5:68,189,122...68,323,741
Ensembl chr 5:68,189,178...68,323,741 		JBrowse link
G Igf1 insulin-like growth factor 1 IMP RGD PMID:20661454 RGD:8549497 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr16:36,514,340...36,547,166
Ensembl chr16:36,514,340...36,547,166 		JBrowse link
G Jag1 jagged 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12022040 NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 IMP RGD PMID:12618319 RGD:8662867 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652 		JBrowse link
G Kcnk1 potassium channel, subfamily K, member 1 ISO mRNA:decreased expression:brain, neuron RGD PMID:17884299 RGD:2316516 NCBI chr 8:126,718,692...126,757,424
Ensembl chr 8:126,721,909...126,757,424 		JBrowse link
G Kcnk10 potassium channel, subfamily K, member 10 ISO mRNA:decreased expression:inferior colliculus (rat) RGD PMID:17884299 RGD:2316516 NCBI chr12:98,395,691...98,544,472
Ensembl chr12:98,395,696...98,544,569 		JBrowse link
G Kcnk3 potassium channel, subfamily K, member 3 ISO mRNA:decreased expression:brain, neuron RGD PMID:17884299 RGD:2316516 NCBI chr 5:30,745,514...30,782,614
Ensembl chr 5:30,745,514...30,782,615 		JBrowse link
G Kcnq1 potassium voltage-gated channel, subfamily Q, member 1 ISO DNA:deletion:exon (rat) RGD PMID:16368876 RGD:1581602 NCBI chr 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779 		JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:25741868 NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626 		JBrowse link
G Lrrc51 leucine rich repeat containing 51 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18953341 NCBI chr 7:101,562,196...101,583,126
Ensembl chr 7:101,562,191...101,583,102 		JBrowse link
G Marveld2 MARVEL (membrane-associating) domain containing 2 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr13:100,732,465...100,753,479
Ensembl chr13:100,732,465...100,753,479 		JBrowse link
G Mitf melanogenesis associated transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9158138 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G mt-Rnr1 12S rRNA, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:9391883 PMID:12031626 PMID:12037390 PMID:15722487 NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024 		JBrowse link
G Myo7a myosin VIIA IAGP
ISO		 DNA:mutations:cds:multiple (mouse)
DNA:deletions:exons
DNA:nonsense mutation:cds
ClinVar Annotator: match by term: Deafness		 ClinVar
RGD		 PMID:22135276 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30303587 More... RGD:4892285, RGD:8694136, RGD:1581470 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Otof otoferlin IMP
ISO		 ClinVar Annotator: match by term: Deafness
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:17967520 PMID:30303587 PMID:17055430 RGD:9491387 NCBI chr 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858 		JBrowse link
G Pax3 paired box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14556253 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pcdh15 protocadherin 15 ISO CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:c.2911C>T|p.Arg971X (rat)		 CTD
RGD		 PMID:10978835 PMID:19151506 RGD:2306012 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Pjvk pejvakin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Deafness		 CTD
ClinVar		 PMID:17301963 PMID:17329413 PMID:17718875 PMID:19888295 PMID:21696384 More... NCBI chr 2:76,480,617...76,488,898
Ensembl chr 2:76,478,820...76,488,900 		JBrowse link
G Pold1 polymerase (DNA directed), delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 7:44,182,168...44,198,239
Ensembl chr 7:44,182,170...44,198,273 		JBrowse link
G Polr2c polymerase (RNA) II (DNA directed) polypeptide C ISO ClinVar Annotator: match by term: Deafness ClinVar NCBI chr 8:95,584,078...95,590,870
Ensembl chr 8:95,584,078...95,600,163 		JBrowse link
G Polr2f polymerase (RNA) II (DNA directed) polypeptide F ISO ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chr15:79,025,525...79,035,974
Ensembl chr15:79,025,209...79,035,974 		JBrowse link
G Pou3f4 POU domain, class 3, transcription factor 4 ISO RGD PMID:9298820 PMID:7839145 RGD:1599156, RGD:1599155 NCBI chr  X:109,857,985...109,862,714
Ensembl chr  X:109,857,886...109,860,813 		JBrowse link
G Pou4f3 POU domain, class 4, transcription factor 3 ISO RGD PMID:9506947 RGD:1599168 NCBI chr18:42,527,662...42,529,158
Ensembl chr18:42,527,604...42,530,314 		JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912 		JBrowse link
G Ret ret proto-oncogene ISO mRNA:increased expression:vestibulocochlear VIII nerve cochlear component RGD PMID:16738479 RGD:2324943 NCBI chr 6:118,128,709...118,174,705
Ensembl chr 6:118,128,706...118,174,679 		JBrowse link
G Serac1 serine active site containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22683713 NCBI chr17:6,090,846...6,130,064
Ensembl chr17:6,092,471...6,130,016 		JBrowse link
G Slc19a2 solute carrier family 19 (thiamine transporter), member 2 ISO RGD PMID:10391221 RGD:1599325 NCBI chr 1:164,076,615...164,092,954
Ensembl chr 1:164,076,615...164,092,954 		JBrowse link
G Slc26a4 solute carrier family 26, member 4 ISO
IMP		 DNA:deletion, missense mutation:cds:c.1341delG, p.H723R (human)
ClinVar Annotator: match by term: Deafness
human gene in mouse model
DNA:missense mutation:cds:p.L445W (human)
DNA:mutations:multiple (human)		 ClinVar
RGD		 PMID:11317356 PMID:28492532 PMID:29372807 PMID:30303587 PMID:34170635 More... RGD:1599217, RGD:7411670, RGD:7411562, RGD:7411559, RGD:1599215, RGD:11062194 NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		JBrowse link
G Slc26a5 solute carrier family 26, member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12719379 NCBI chr 5:22,013,999...22,070,602
Ensembl chr 5:22,015,653...22,070,602 		JBrowse link
G Smad4 SMAD family member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158539 NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851 		JBrowse link
G Sox10 SRY (sex determining region Y)-box 10 ISO ClinVar Annotator: match by term: Deafness with anatomical inner ear anomalies ClinVar PMID:25077900 PMID:25741868 PMID:27562378 PMID:28492532 PMID:29419413 More... NCBI chr15:79,039,113...79,048,690
Ensembl chr15:79,039,108...79,049,440 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		JBrowse link
G Tmc1 transmembrane channel-like gene family 1 ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:11850618 PMID:16199547 PMID:22105175 PMID:28492532 PMID:30303587 More... NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566 		JBrowse link
G Tmtc2 transmembrane and tetratricopeptide repeat containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27311106 NCBI chr10:105,023,524...105,410,340
Ensembl chr10:105,023,524...105,410,312 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr15:78,831,924...78,890,069
Ensembl chr15:78,831,924...78,890,069 		JBrowse link
G Ush1g USH1 protein network component sans ISO Usher syndrome, type IG, OMIM:607696
ClinVar Annotator: match by term: Deafness		 ClinVar
RGD		 PMID:25741868 PMID:30303587 PMID:12588794 RGD:1599547 NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:10729113 PMID:10909849 PMID:20507924 PMID:25649381 PMID:25741868 More... NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Deafness ClinVar PMID:30303587 NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		JBrowse link
DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psmc3 proteasome (prosome, macropain) 26S subunit, ATPase 3 ISO ClinVar Annotator: match by term: Deafness, cataract, impaired intellectual development, and polyneuropathy ClinVar
OMIM		 PMID:32500975 NCBI chr 2:90,884,361...90,889,783
Ensembl chr 2:90,884,354...90,896,714 		JBrowse link
Deafness, Congenital Heart Defects, and Posterior Embryotoxon term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jag1 jagged 1 ISO ClinVar Annotator: match by term: Deafness, congenital heart defects, and posterior embryotoxon OMIM
ClinVar		 PMID:9585603 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chr 2:136,923,371...136,958,440
Ensembl chr 2:136,923,376...136,958,564 		JBrowse link
DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Deafness, congenital, and adult-onset progressive leukoencephalopathy OMIM
ClinVar		 PMID:21427441 PMID:23596069 PMID:25356970 PMID:25741868 PMID:28492532 More... NCBI chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955 		JBrowse link
Deafness, with Smith-Magenis Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Deafness, with smith-magenis syndrome ClinVar PMID:11735029 PMID:17546645 PMID:19274735 PMID:24033266 PMID:28492532 NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		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 agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: Deafness dystonia syndrome ClinVar NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		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:133,438,005...133,442,419
Ensembl chr  X:133,438,005...133,442,614 		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 9:106,765,952...106,769,137
Ensembl chr 9:106,715,511...106,769,178 		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 chr10:22,978,861...23,226,785
Ensembl chr10:22,978,862...23,226,684 		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, lysosomal 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 6:83,719,999...83,735,837
Ensembl chr 6:83,719,972...83,735,837 		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, lysosomal 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 6:38,025,418...38,101,521
Ensembl chr 6:38,025,418...38,101,521 		JBrowse link
G Slc4a1 solute carrier family 4 (anion exchanger), member 1 IMP
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 chr11:102,239,646...102,256,107
Ensembl chr11:102,239,650...102,257,029 		JBrowse link
G Tmem213 transmembrane protein 213 ISO ClinVar Annotator: match by term: Renal tubular acidosis, autosomal recessive with preserved hearing ClinVar NCBI chr 6:38,086,288...38,092,741
Ensembl chr 6:38,086,190...38,092,744 		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
ClinVar
OMIM		 PMID:4058877 PMID:6493699 PMID:9490303 PMID:9917792 PMID:11017079 More... NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702 		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 1:24,716,073...24,805,382
Ensembl chr 1:24,717,711...24,805,382 		JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:222448		 OMIM
ClinVar
CTD
MouseDO		 PMID:8266995 PMID:9475100 PMID:9536098 PMID:12923867 PMID:16199547 More... NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409 		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 chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536 		JBrowse link
drug-induced hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sirt3 sirtuin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:36800006 NCBI chr 7:140,443,576...140,462,222
Ensembl chr 7:140,443,579...140,462,222 		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, alpha 2 polypeptide ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:172,099,276...172,125,631
Ensembl chr 1:172,099,276...172,125,631 		JBrowse link
G Igsf8 immunoglobulin superfamily, member 8 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:172,139,934...172,147,410
Ensembl chr 1:172,089,208...172,147,408 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:612780
DNA:missense mutations:cds:c.194G>C (p.R65P), c.229G>C (p.G77R) (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:19289823 PMID:19420365 PMID:19426954 PMID:20651251 PMID:20678478 More... RGD:8662866 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652 		JBrowse link
G Kcnj9 potassium inwardly-rectifying channel, subfamily J, member 9 ISO ClinVar Annotator: match by term: EAST syndrome ClinVar PMID:28492532 NCBI chr 1:172,148,075...172,156,889
Ensembl chr 1:172,148,068...172,156,885 		JBrowse link
Ehlers-Danlos syndrome kyphoscoliotic type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:55,313,284...55,325,540
Ensembl chr 6:55,313,417...55,325,540 		JBrowse link
G Crhr2 corticotropin releasing hormone receptor 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:55,067,033...55,110,001
Ensembl chr 6:55,067,034...55,110,001 		JBrowse link
G Fkbp14 FK506 binding protein 14 ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22265013 PMID:24677762 More... NCBI chr 6:54,554,590...54,574,329
Ensembl chr 6:54,554,589...54,574,293 		JBrowse link
G Gars1 glycyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:55,014,986...55,056,489
Ensembl chr 6:55,014,992...55,056,485 		JBrowse link
G Ggct gamma-glutamyl cyclotransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:54,962,080...54,969,947
Ensembl chr 6:54,959,565...54,969,935 		JBrowse link
G Ghrhr growth hormone releasing hormone receptor ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:55,353,204...55,365,515
Ensembl chr 6:55,353,280...55,365,515 		JBrowse link
G Inmt indolethylamine N-methyltransferase ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:55,147,612...55,151,975
Ensembl chr 6:55,147,611...55,152,028 		JBrowse link
G Mindy4 MINDY lysine 48 deubiquitinase 4 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:55,180,337...55,297,208
Ensembl chr 6:55,180,368...55,297,207 		JBrowse link
G Mturn maturin, neural progenitor differentiation regulator homolog (Xenopus) ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:54,658,609...54,680,840
Ensembl chr 6:54,658,609...54,680,836 		JBrowse link
G Nod1 nucleotide-binding oligomerization domain containing 1 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:54,900,927...54,949,655
Ensembl chr 6:54,900,934...54,949,597 		JBrowse link
G Plekha8 pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:54,571,883...54,622,808
Ensembl chr 6:54,572,096...54,622,824 		JBrowse link
G Znrf2 zinc and ring finger 2 ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss ClinVar PMID:28492532 NCBI chr 6:54,793,901...54,867,209
Ensembl chr 6:54,793,901...54,870,485 		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 antigen 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 7:141,047,275...141,051,394
Ensembl chr 7:141,047,305...141,051,386 		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 chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542 		JBrowse link
Fine-Lubinsky Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hdlbp high density lipoprotein (HDL) binding protein ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 1:93,333,662...93,406,639
Ensembl chr 1:93,333,662...93,406,537 		JBrowse link
G Por cytochrome p450 oxidoreductase ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:22162478 PMID:25741868 NCBI chr 5:135,698,894...135,764,180
Ensembl chr 5:135,698,887...135,764,180 		JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 ISO ClinVar Annotator: match by term: Fine-Lubinsky syndrome ClinVar PMID:25741868 NCBI chr 2:90,892,136...90,900,754
Ensembl chr 2:90,892,136...90,900,762 		JBrowse link
Forney Robinson Pascoe Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen-activated protein kinase kinase kinase 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467 		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 9:72,952,092...73,004,905
Ensembl chr 9:72,952,136...73,004,911 		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
IAGP		 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:214450		 OMIM
CTD
ClinVar
MouseDO		 PMID:9207796 PMID:9536098 PMID:10704277 PMID:12058346 PMID:17576681 More... NCBI chr 9:74,975,183...75,130,970
Ensembl chr 9:74,978,297...75,130,970 		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 9:72,892,692...72,923,622
Ensembl chr 9:72,892,711...72,923,622 		JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 9:72,863,574...72,880,971
Ensembl chr 9:72,866,067...72,880,346 		JBrowse link
G Pierce2 piercer of microtubule wall 2 ISO ClinVar Annotator: match by term: Griscelli syndrome type 2 ClinVar PMID:28492532 NCBI chr 9:72,886,999...72,892,658
Ensembl chr 9:72,886,964...72,892,674 		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 9:72,920,639...72,946,973
Ensembl chr 9:72,914,701...72,947,660 		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 9:72,952,092...73,004,905
Ensembl chr 9:72,952,136...73,004,911 		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 1:90,842,750...90,878,864
Ensembl chr 1:90,842,807...90,878,864 		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 9:74,975,183...75,130,970
Ensembl chr 9:74,978,297...75,130,970 		JBrowse link
Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abhd12 abhydrolase domain containing 12 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 2:150,674,413...150,746,705
Ensembl chr 2:150,674,413...150,746,661 		JBrowse link
G Actg1 actin, gamma, cytoplasmic 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:19477959 PMID:20301607 PMID:24033266 PMID:25741868 PMID:25792668 More... NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		JBrowse link
G Adgrv1 adhesion G protein-coupled receptor V1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:19357117 PMID:22135276 PMID:22147658 PMID:24033266 PMID:25741868 More... NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Alms1 ALMS1, centrosome and basal body associated ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:17594715 PMID:24462884 PMID:25296579 PMID:25741868 PMID:26066530 More... NCBI chr 6:85,564,482...85,698,973
Ensembl chr 6:85,564,513...85,679,735 		JBrowse link
G Anapc15 anaphase promoting complex C subunit 15 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 7:101,530,508...101,551,056
Ensembl chr 7:101,512,922...101,551,056 		JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19738398 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Arc activity regulated cytoskeletal-associated protein treatment ISO mRNA:decreased expression:auditory cortex: RGD PMID:18524887 PMID:18607918 RGD:8655535, RGD:8655538 NCBI chr15:74,540,930...74,544,419
Ensembl chr15:74,540,932...74,544,419 		JBrowse link
G Atoh1 atonal bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 NCBI chr 6:64,706,109...64,708,229
Ensembl chr 6:64,706,109...64,708,229 		JBrowse link
G Atp2b2 ATPase, Ca++ transporting, plasma membrane 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574 		JBrowse link
G Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:9916796 PMID:16769747 PMID:18368028 PMID:24033266 PMID:25741868 More... NCBI chr 6:83,719,999...83,735,837
Ensembl chr 6:83,719,972...83,735,837 		JBrowse link
G B3gnt4 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr 5:123,646,519...123,649,945
Ensembl chr 5:123,648,523...123,649,945 		JBrowse link
G Barhl1 BarH like homeobox 1 IMP RGD PMID:12091321 RGD:14390166 NCBI chr 2:28,797,692...28,807,996
Ensembl chr 2:28,797,691...28,806,680 		JBrowse link
G Bcl2l1 BCL2-like 1 ISO CTD Direct Evidence: therapeutic CTD PMID:17697574 NCBI chr 2:152,600,652...152,673,632
Ensembl chr 2:152,622,588...152,673,648 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:increased expression:cochlea: RGD PMID:18524887 RGD:8655535 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Bdp1 B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr13:100,154,502...100,244,524
Ensembl chr13:100,154,502...100,240,578 		JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805 		JBrowse link
G Bmp4 bone morphogenetic protein 4 IMP RGD PMID:17275231 RGD:8698665 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126 		JBrowse link
G Bsnd barttin CLCNK type accessory beta subunit ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11687798 PMID:19646679 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr19:4,131,469...4,137,340
Ensembl chr19:4,131,578...4,137,340 		JBrowse link
G Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:16199547 PMID:28492532 PMID:30311386 NCBI chr14:29,761,898...30,213,113
Ensembl chr14:29,761,896...30,213,412 		JBrowse link
G Cacna2d2 calcium channel, voltage-dependent, alpha 2/delta subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27798183 NCBI chr 9:107,276,948...107,406,545
Ensembl chr 9:107,276,811...107,406,542 		JBrowse link
G Catsper2 cation channel, sperm associated 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr 2:121,222,109...121,245,082
Ensembl chr 2:121,223,112...121,244,273 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:11138009 PMID:18429043 PMID:21117948 PMID:21940737 PMID:23794683 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Ceacam16 CEA cell adhesion molecule 16 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:25741868 PMID:30311386 NCBI chr 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224 		JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr 7:65,759,240...65,823,546
Ensembl chr 7:65,759,263...65,823,546 		JBrowse link
G Cib2 calcium and integrin binding family member 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:26173970 PMID:28492532 PMID:28663585 PMID:29112224 PMID:30311386 NCBI chr 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1, ubiquitous ISO ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr 2:121,188,257...121,194,218
Ensembl chr 2:121,188,195...121,194,218 		JBrowse link
G Clcc1 chloride channel CLIC-like 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:30311386 NCBI chr 3:108,561,194...108,586,156
Ensembl chr 3:108,561,229...108,586,156 		JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11163249 PMID:15880785 PMID:22246673 PMID:23235333 PMID:25741868 More... NCBI chr16:93,715,919...93,809,733
Ensembl chr16:93,715,919...93,809,696 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss ClinVar PMID:25741868 PMID:30311386 PMID:31175426 NCBI chr17:23,901,558...23,903,000
Ensembl chr17:23,901,558...23,903,000 		JBrowse link
G Clic5 chloride intracellular channel 5 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr17:44,445,671...44,591,059
Ensembl chr17:44,445,659...44,591,059 		JBrowse link
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11524702 PMID:12145752 PMID:19753315 PMID:20717163 PMID:22681893 More... NCBI chr 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9931344 PMID:10400989 PMID:11332404 PMID:16151338 PMID:16481359 More... NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554 		JBrowse link
G Col11a1 collagen, type XI, alpha 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:30311386 PMID:33169910 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9536098 PMID:16033917 PMID:17576681 PMID:24033266 PMID:25633957 More... NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:26626311 PMID:28492532 PMID:30311386 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Col4a3 collagen, type IV, alpha 3 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:7987301 PMID:9269635 PMID:11044206 PMID:11134255 PMID:11961012 More... NCBI chr 1:82,564,647...82,699,778
Ensembl chr 1:82,564,642...82,699,780 		JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:17396119 PMID:24033287 PMID:24854265 PMID:25741868 PMID:26934356 More... NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570 		JBrowse link
G Col4a5 collagen, type IV, alpha 5 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:8406498 PMID:8455372 PMID:9536098 PMID:10094548 PMID:11462238 More... NCBI chr  X:140,258,367...140,472,232
Ensembl chr  X:140,258,381...140,472,230 		JBrowse link
G Col9a1 collagen, type IX, alpha 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24036952 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 1:24,216,670...24,291,819
Ensembl chr 1:24,216,691...24,291,765 		JBrowse link
G Col9a3 collagen, type IX, alpha 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr 2:180,239,895...180,263,985
Ensembl chr 2:180,239,583...180,263,982 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP mRNA, protein:altered expression:cochlea RGD PMID:24781382 RGD:9491762 NCBI chr 8:95,498,808...95,509,055
Ensembl chr 8:95,498,637...95,509,055 		JBrowse link
G Cx3cr1 C-X3-C motif chemokine receptor 1 IEP mRNA, protein:increased expression:cochlea RGD PMID:24781382 RGD:9491762 NCBI chr 9:119,877,749...119,897,362
Ensembl chr 9:119,877,749...119,898,945 		JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr 5:123,649,393...123,664,825
Ensembl chr 5:123,647,828...123,662,239 		JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar PMID:24033266 PMID:24781755 PMID:25741868 PMID:26463574 PMID:28492532 More... NCBI chr18:37,976,654...38,068,573
Ensembl chr18:37,976,654...38,068,529 		JBrowse link
G Diaph3 diaphanous related formin 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr14:86,892,793...87,378,683
Ensembl chr14:86,892,803...87,378,671 		JBrowse link
G Dmxl2 Dmx-like 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 9:54,272,442...54,409,150
Ensembl chr 9:54,272,442...54,408,910 		JBrowse link
G Dnmt1 DNA methyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532572 NCBI chr 9:20,818,501...20,871,084
Ensembl chr 9:20,818,505...20,871,184 		JBrowse link
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993 		JBrowse link
G Ednrb endothelin receptor type B ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:16944573 PMID:18162831 PMID:25741868 PMID:30303587 PMID:30311386 More... NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838 		JBrowse link
G Eftud2 elongation factor Tu GTP binding domain containing 2 ISO associated with mandibulofacial dysostosis, Guion-Almeida type;DNA:mutations:cds:multiple RGD PMID:24470203 RGD:155791662 NCBI chr11:102,729,298...102,771,999
Ensembl chr11:102,729,299...102,771,811 		JBrowse link
G Eral1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar NCBI chr11:77,964,202...77,971,209
Ensembl chr11:77,964,202...77,971,209 		JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25440059 NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947 		JBrowse link
G Esr2 estrogen receptor 2 (beta) IMP RGD PMID:18317592 RGD:8553063 NCBI chr12:76,167,193...76,224,033
Ensembl chr12:76,167,193...76,224,033 		JBrowse link
G Esrrb estrogen related receptor, beta ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:23967202 PMID:24033266 PMID:28492532 PMID:30303587 PMID:30311386 More... NCBI chr12:86,407,891...86,568,402
Ensembl chr12:86,407,891...86,568,402 		JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:23552953 PMID:24033266 PMID:25741868 PMID:26667035 PMID:28492532 More... NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:22,978,861...23,226,785
Ensembl chr10:22,978,862...23,226,684 		JBrowse link
G Foxc1 forkhead box C1 ISO associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) RGD PMID:17653043 RGD:12904051 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459 		JBrowse link
G Foxi1 forkhead box I1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar PMID:25741868 PMID:30311386 NCBI chr11:34,154,341...34,158,089
Ensembl chr11:34,154,338...34,158,089 		JBrowse link
G Gata3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845 		JBrowse link
G Gipc3 GIPC PDZ domain containing family, member 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 PMID:32682410 NCBI chr10:81,171,096...81,179,452
Ensembl chr10:81,171,099...81,179,100 		JBrowse link
G Gja1 gap junction protein, alpha 1 no_association ISO DNA:polymorphisms RGD PMID:12791041 RGD:8662384 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO DNA:deletion: :c.35delG(human)
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
DNA:mutation:cds:p.V37I(human)
DNA:dels,polymorphism:cds:c.235delC,c.35delG,c.585G>C(human)		 ClinVar
RGD		 PMID:3 PMID:1218943 PMID:1693158 PMID:2706105 PMID:2956987 More... RGD:7364794, RGD:7364893, RGD:7364886, RGD:7364810 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11309368 PMID:12165562 PMID:15276679 PMID:19050930 PMID:19197336 More... NCBI chr 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO
IMP		 ClinVar Annotator: match by term: Hearing impairment
p.T5M(human)		 ClinVar
RGD		 PMID:30311386 PMID:19173109 PMID:12490528 PMID:20858605 RGD:7364893, RGD:7364899, RGD:7364895 NCBI chr14:57,360,760...57,370,764
Ensembl chr14:57,360,760...57,371,068 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Gpsm2 G-protein signalling modulator 2 (AGS3-like, C. elegans) ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:30311386 NCBI chr 3:108,585,954...108,629,637
Ensembl chr 3:108,585,954...108,629,625 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813 		JBrowse link
G Grxcr1 glutaredoxin, cysteine rich 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25802247 PMID:28492532 PMID:30311386 NCBI chr 5:68,189,122...68,323,741
Ensembl chr 5:68,189,178...68,323,741 		JBrowse link
G Gsdme gasdermin E ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed		 CTD
ClinVar		 PMID:21782914 PMID:28492532 PMID:30311386 NCBI chr 6:50,167,013...50,240,837
Ensembl chr 6:50,165,868...50,240,842 		JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 ISO associated with Behcet Syndrome; DNA:polymorphisms:cds:HLA-B51 (human) RGD PMID:15855027 RGD:7364915 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266 		JBrowse link
G Hgf hepatocyte growth factor ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 More... RGD:8548550 NCBI chr 5:16,758,493...16,827,448
Ensembl chr 5:16,758,493...16,825,150 		JBrowse link
G Il10 interleukin 10 treatment ISO
IMP		 associated with Meningitis, Pneumococcal
associated with Autoimmune Diseases		 RGD PMID:22644021 PMID:21697956 RGD:7364829, RGD:7364842 NCBI chr 1:130,947,459...130,952,707
Ensembl chr 1:130,947,582...130,952,711 		JBrowse link
G Ildr1 immunoglobulin-like domain containing receptor 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:21255762 PMID:24033266 PMID:25741868 PMID:27610647 PMID:28492532 More... NCBI chr16:36,514,340...36,547,166
Ensembl chr16:36,514,340...36,547,166 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30311386 NCBI chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955 		JBrowse link
G Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 1 ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar NCBI chr16:92,142,889...92,156,356
Ensembl chr16:92,142,870...92,156,356 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:26467025 PMID:27171548 PMID:28492532 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652 		JBrowse link
G Kcnq1 potassium voltage-gated channel, subfamily Q, member 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:19716085 PMID:23788249 PMID:25525159 PMID:25741868 PMID:27707468 More... NCBI chr 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779 		JBrowse link
G Kcnq4 potassium voltage-gated channel, subfamily Q, member 4 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 4:120,553,331...120,605,809
Ensembl chr 4:120,553,335...120,605,809 		JBrowse link
G Lhfpl5 lipoma HMGIC fusion partner-like 5 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:28492532 PMID:30311386 NCBI chr17:28,794,330...28,802,567
Ensembl chr17:28,794,615...28,804,653 		JBrowse link
G Lipt1 lipoyltransferase 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chr 1:37,910,819...37,915,309
Ensembl chr 1:37,910,819...37,915,309 		JBrowse link
G Lmx1a LIM homeobox transcription factor 1 alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:29971487 NCBI chr 1:167,515,864...167,676,310
Ensembl chr 1:167,516,806...167,676,310 		JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:16199547 PMID:19732867 PMID:21465660 PMID:22341973 PMID:23804846 More... NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626 		JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409 		JBrowse link
G Lrrc51 leucine rich repeat containing 51 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar NCBI chr 7:101,562,196...101,583,126
Ensembl chr 7:101,562,191...101,583,102 		JBrowse link
G Manba mannosidase, beta A, lysosomal ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:2079835 PMID:9384606 PMID:12468273 PMID:16199547 PMID:18565776 More... NCBI chr 3:135,191,367...135,277,165
Ensembl chr 3:135,191,372...135,277,165 		JBrowse link
G Map3k1 mitogen-activated protein kinase kinase kinase 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss ClinVar PMID:28492532 PMID:30311386 PMID:30872814 NCBI chr13:111,882,962...111,954,803
Ensembl chr13:111,882,962...111,945,527 		JBrowse link
G Marveld2 MARVEL (membrane-associating) domain containing 2 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:16199547 PMID:17186462 PMID:18084694 PMID:22097895 PMID:24033266 More... NCBI chr13:100,732,465...100,753,479
Ensembl chr13:100,732,465...100,753,479 		JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chr  X:73,070,198...73,129,296
Ensembl chr  X:73,070,198...73,129,296 		JBrowse link
G Mir96 microRNA 96 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment		 CTD
ClinVar		 PMID:19363478 PMID:19363479 PMID:30311386 NCBI chr 6:30,169,445...30,169,550
Ensembl chr 6:30,169,445...30,169,550 		JBrowse link
G Mitd1 MIT, microtubule interacting and transport, domain containing 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:27247813 PMID:28492532 NCBI chr 1:37,913,882...37,929,530
Ensembl chr 1:37,913,882...37,929,492 		JBrowse link
G Mitf melanogenesis associated transcription factor ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:8659547 PMID:9856573 PMID:25741868 NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Msrb3 methionine sulfoxide reductase B3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing loss		 CTD
ClinVar		 PMID:21782914 PMID:24033266 NCBI chr10:120,617,005...120,735,132
Ensembl chr10:120,617,001...120,735,006 		JBrowse link
G mt-Cytb cytochrome b, mitochondrial ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288 		JBrowse link
G mt-Nd4 NADH dehydrogenase 4, mitochondrial ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:10,167...11,544
Ensembl chr MT:10,167...11,544 		JBrowse link
G mt-Nd5 NADH dehydrogenase 5, mitochondrial ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28027978 NCBI chr MT:11,742...13,565
Ensembl chr MT:11,742...13,565 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP:cds:677C>T(human) RGD PMID:21385350 RGD:7387225 NCBI chr 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:21385350 RGD:7387225 NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999 		JBrowse link
G Myh14 myosin, heavy polypeptide 14 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss ClinVar PMID:24033266 PMID:25741868 PMID:27393652 PMID:28492532 PMID:29293505 More... NCBI chr 7:44,255,227...44,320,296
Ensembl chr 7:44,255,227...44,320,267 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:18059020 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 More... NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:2574186 PMID:7616538 PMID:7704031 PMID:17546645 PMID:17853461 More... NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,314...22,508,264 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive		 ClinVar PMID:9536098 PMID:12687499 PMID:17576681 PMID:18348273 PMID:21078986 More... NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:8900236 PMID:9259201 PMID:16199547 PMID:21436283 PMID:21873662 More... NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Ndp Norrie disease (pseudoglioma) (human) ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:14635119 PMID:25741868 PMID:28492532 PMID:30311386 PMID:31456290 NCBI chr  X:16,751,760...16,778,013
Ensembl chr  X:16,751,760...16,778,013 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:15593220 PMID:25741868 PMID:28492532 PMID:29922587 PMID:30311386 NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782 		JBrowse link
G Nsdhl NAD(P) dependent steroid dehydrogenase-like ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 NCBI chr  X:71,962,127...72,002,134
Ensembl chr  X:71,962,163...72,002,120 		JBrowse link
G Ntf3 neurotrophin 3 ISO CTD Direct Evidence: therapeutic CTD PMID:18024279 NCBI chr 6:126,078,375...126,143,703
Ensembl chr 6:126,078,375...126,143,873 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:25741868 PMID:30311386 NCBI chr 7:120,682,647...120,762,316
Ensembl chr 7:120,680,873...120,762,320 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:18381613 PMID:19250381 PMID:20146813 PMID:20301429 PMID:22575033 More... NCBI chr 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 PMID:32048449 NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858 		JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr10:107,596,391...107,748,240
Ensembl chr10:107,596,392...107,747,995 		JBrowse link
G Oxr1 oxidation resistance 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:36130215 NCBI chr15:41,310,745...41,724,447
Ensembl chr15:41,310,878...41,724,444 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pcdh15 protocadherin 15 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive		 CTD
ClinVar		 PMID:24033266 PMID:25468891 PMID:25741868 PMID:28492532 PMID:30029624 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Pde5a phosphodiesterase 5A, cGMP-specific treatment IMP RGD PMID:22270721 RGD:7775056 NCBI chr 3:122,522,822...122,653,023
Ensembl chr 3:122,522,596...122,653,023 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:9536098 PMID:17576681 PMID:28492532 PMID:30311386 NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr 2:76,480,617...76,488,898
Ensembl chr 2:76,478,820...76,488,900 		JBrowse link
G Pls1 plastin 1 (I-isoform) ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:25741868 PMID:30872814 PMID:31397523 PMID:31432506 NCBI chr 9:95,634,695...95,727,359
Ensembl chr 9:95,634,695...95,727,364 		JBrowse link
G Polr1c polymerase (RNA) I polypeptide C ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:610060 PMID:22855961 PMID:25741868 PMID:26151409 PMID:28492532 More... NCBI chr17:46,554,846...46,558,971
Ensembl chr17:46,554,846...46,558,980 		JBrowse link
G Polr1d polymerase (RNA) I polypeptide D ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 5:147,013,525...147,048,171
Ensembl chr 5:147,013,860...147,048,407 		JBrowse link
G Polr2f polymerase (RNA) II (DNA directed) polypeptide F ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:17999358 PMID:20127975 PMID:25741868 PMID:26467025 PMID:27240497 More... NCBI chr15:79,025,525...79,035,974
Ensembl chr15:79,025,209...79,035,974 		JBrowse link
G Pou4f3 POU domain, class 4, transcription factor 3 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr18:42,527,662...42,529,158
Ensembl chr18:42,527,604...42,530,314 		JBrowse link
G Prkg1 protein kinase, cGMP-dependent, type I IMP RGD PMID:22270721 RGD:7775056 NCBI chr19:30,541,887...31,742,675
Ensembl chr19:30,541,889...31,742,433 		JBrowse link
G Prkra protein kinase, interferon inducible double stranded RNA dependent activator ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:28492532 NCBI chr 2:76,436,385...76,478,614
Ensembl chr 2:76,460,242...76,478,359 		JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: X-linked nonsyndromic hearing loss ClinVar NCBI chr  X:139,357,352...139,376,889
Ensembl chr  X:139,357,362...139,376,889 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:30311386 NCBI chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912 		JBrowse link
G Ptprs protein tyrosine phosphatase receptor type S ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30872814 NCBI chr17:56,719,426...56,783,480
Ensembl chr17:56,719,426...56,783,483 		JBrowse link
G Rdx radixin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:25741868 PMID:30311386 NCBI chr 9:51,958,450...52,000,038
Ensembl chr 9:51,958,473...52,011,763 		JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:12920075 NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
G Sema3f sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 9:107,558,698...107,587,674
Ensembl chr 9:107,558,699...107,587,674 		JBrowse link
G Serpinb6a serine (or cysteine) peptidase inhibitor, clade B, member 6a ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr13:34,101,901...34,186,777
Ensembl chr13:34,101,901...34,186,777 		JBrowse link
G Sf3b4 splicing factor 3b, subunit 4 ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:25741868 NCBI chr 3:96,079,822...96,084,880
Ensembl chr 3:96,079,648...96,084,880 		JBrowse link
G Sh3pxd2b SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:19669234 NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173 		JBrowse link
G Six1 sine oculis-related homeobox 1 ISO
IAGP		 DNA:mutation:cds:c.373G >A(p.E125K)(human)
ClinVar Annotator: match by term: Hearing impairment
DNA:missense mutation:cds:p.E121G (mouse)		 ClinVar
RGD		 PMID:28492532 PMID:30311386 PMID:15141091 PMID:19389353 RGD:8554876, RGD:8554879 NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		JBrowse link
G Slc12a2 solute carrier family 12, member 2 ISO ClinVar Annotator: match by term: Hearing loss ClinVar PMID:32294086 PMID:32658972 NCBI chr18:58,011,505...58,079,893
Ensembl chr18:58,011,750...58,079,893 		JBrowse link
G Slc22a4 solute carrier family 22 (organic cation transporter), member 4 ISO ClinVar Annotator: match by term: Hereditary hearing loss and deafness ClinVar PMID:27023905 PMID:28492532 PMID:33643381 PMID:34194829 NCBI chr11:53,873,941...53,920,866
Ensembl chr11:53,873,949...53,918,916 		JBrowse link
G Slc26a4 solute carrier family 26, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Mixed | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive		 CTD
ClinVar		 PMID:9070918 PMID:9500541 PMID:9618166 PMID:9618167 PMID:10700480 More... NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		JBrowse link
G Slc26a5 solute carrier family 26, member 5 no_association IMP
ISO		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive
DNA:snp:intron:IVS2-2A>G (human)		 CTD
ClinVar
RGD		 PMID:30311386 PMID:34273409 PMID:15319415 PMID:16086836 PMID:12719379 RGD:9479049, RGD:9479051, RGD:9479050 NCBI chr 5:22,013,999...22,070,602
Ensembl chr 5:22,015,653...22,070,602 		JBrowse link
G Slc29a3 solute carrier family 29 (nucleoside transporters), member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20140240 NCBI chr10:60,547,851...60,588,624
Ensembl chr10:60,547,851...60,588,573 		JBrowse link
G Slc33a1 solute carrier family 33 (acetyl-CoA transporter), member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22243965 NCBI chr 3:63,849,744...63,872,154
Ensembl chr 3:63,840,928...63,872,189 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581 		JBrowse link
G Smpx small muscle protein, X-linked ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr  X:156,481,969...156,535,587
Ensembl chr  X:156,481,906...156,535,587 		JBrowse link
G Sod1 superoxide dismutase 1, soluble IMP
ISO		 CTD Direct Evidence: therapeutic CTD
RGD		 PMID:11474137 PMID:16055286 RGD:1581213 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Sox10 SRY (sex determining region Y)-box 10 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:17999358 PMID:20127975 PMID:25741868 PMID:26467025 PMID:27240497 More... NCBI chr15:79,039,113...79,048,690
Ensembl chr15:79,039,108...79,049,440 		JBrowse link
G Spns2 SPNS lysolipid transporter 2, sphingosine-1-phosphate ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr11:72,342,464...72,380,797
Ensembl chr11:72,342,464...72,380,730 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20712533 NCBI chr 1:52,158,588...52,201,024
Ensembl chr 1:52,158,599...52,201,024 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:30311386 NCBI chr 2:121,193,729...121,211,851
Ensembl chr 2:121,194,209...121,217,649 		JBrowse link
G Tcof1 treacle ribosome biogenesis factor 1 ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr18:60,946,827...60,982,055
Ensembl chr18:60,946,827...60,982,043 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:11087000 PMID:12746400 PMID:17431902 PMID:21520338 PMID:24033266 More... NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		JBrowse link
G Tjp2 tight junction protein 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment		 CTD
ClinVar		 PMID:21782914 PMID:25741868 PMID:30311386 NCBI chr19:24,071,860...24,202,492
Ensembl chr19:24,071,869...24,202,394 		JBrowse link
G Tlr2 toll-like receptor 2 susceptibility ISO associated with Meningitis,Bacterial; DNA:haplotype: :2477G>A(rs5743708)(human) RGD PMID:22662111 RGD:7800663 NCBI chr 3:83,743,579...83,749,045
Ensembl chr 3:83,743,579...83,749,074 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO associated with Meningitis,Bacterial; DNA:SNP,haplotype: :896A>G(rs4986790)(human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:21148032 PMID:22662111 RGD:7800663 NCBI chr 4:66,745,788...66,765,338
Ensembl chr 4:66,745,821...66,848,521 		JBrowse link
G Tlr9 toll-like receptor 9 ISO associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human) RGD PMID:22662111 RGD:7800663 NCBI chr 9:106,099,797...106,104,075
Ensembl chr 9:106,099,797...106,104,082 		JBrowse link
G Tmc1 transmembrane channel-like gene family 1 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:11850618 PMID:16134132 PMID:16287143 PMID:22105175 PMID:23767834 More... NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566 		JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:28492532 More... NCBI chr 9:110,694,755...110,709,141
Ensembl chr 9:110,694,779...110,709,181 		JBrowse link
G Tmprss3 transmembrane protease, serine 3 ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:11137999 PMID:11462234 PMID:11907649 PMID:15447792 PMID:16021470 More... NCBI chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252 		JBrowse link
G Tnf tumor necrosis factor IEP associated with Cytomegalovirus Infections;protein:increased expression:scala tympani: RGD PMID:22001951 RGD:7394702 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Tomt transmembrane O-methyltransferase ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:24033266 PMID:25741868 PMID:26467025 PMID:27260575 PMID:28492532 More... NCBI chr 7:101,549,010...101,555,572
Ensembl chr 7:101,547,577...101,555,566 		JBrowse link
G Tprn taperin ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:28492532 PMID:30311386 NCBI chr 2:25,152,610...25,159,898
Ensembl chr 2:25,152,630...25,159,897 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:16385457 PMID:16385458 PMID:20510926 PMID:24033266 PMID:25741868 More... NCBI chr15:78,831,924...78,890,069
Ensembl chr15:78,831,924...78,890,069 		JBrowse link
G Tspear thrombospondin type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:30311386 NCBI chr10:77,521,942...77,722,844
Ensembl chr10:77,522,403...77,722,855 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:1429711 PMID:1642278 PMID:1903591 PMID:5516239 PMID:9242509 More... NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G Ucp2 uncoupling protein 2 (mitochondrial, proton carrier) ISO mRNA, protein:increased expression:cochlea (rat) RGD PMID:22543089 RGD:10045653 NCBI chr 7:100,142,565...100,148,832
Ensembl chr 7:100,142,544...100,151,227 		JBrowse link
G Ucp3 uncoupling protein 3 (mitochondrial, proton carrier) ISO mRNA, protein:increased expression:cochlea (rat) RGD PMID:22543089 RGD:10045653 NCBI chr 7:100,122,198...100,135,639
Ensembl chr 7:100,122,197...100,135,639 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO DNA:mutations:cds:
ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive		 ClinVar
RGD		 PMID:10973247 PMID:16199547 PMID:17407589 PMID:20301442 PMID:21203349 More... RGD:8694454 NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G Ush1g USH1 protein network component sans ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hearing impairment		 CTD
ClinVar		 PMID:24033266 PMID:25255398 PMID:25741868 PMID:27068579 PMID:27353947 More... NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
G Ush2a usherin IMP
ISO		 ClinVar Annotator: match by term: Hearing impairment ClinVar
RGD		 PMID:2564938 PMID:10729113 PMID:10909849 PMID:14970843 PMID:15015129 More... RGD:8547954 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Hearing impairment ClinVar PMID:11161832 PMID:11317350 PMID:12073007 PMID:15605410 PMID:22238590 More... NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		JBrowse link
G Whrn whirlin ISO ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive ClinVar PMID:20352026 PMID:22135276 PMID:23804846 PMID:24033266 PMID:25741868 More... NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		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, muscle type ISO CTD Direct Evidence: marker/mechanism CTD PMID:25665007 NCBI chr11:30,455,991...30,599,778
Ensembl chr11:30,455,991...30,599,587 		JBrowse link
G Camk2a calcium/calmodulin-dependent protein kinase II alpha treatment ISO RGD PMID:23558232 RGD:9685025 NCBI chr18:61,058,704...61,121,224
Ensembl chr18:61,058,690...61,121,224 		JBrowse link
G Camk2b calcium/calmodulin-dependent protein kinase II, beta treatment ISO RGD PMID:23558232 RGD:9685025 NCBI chr11:5,919,642...6,016,401
Ensembl chr11:5,919,644...6,016,362 		JBrowse link
G Cat catalase ISO protein:decreased expression:cochlear: RGD PMID:10220857 RGD:9197256 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Comt catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898482 NCBI chr16:18,225,632...18,247,006
Ensembl chr16:18,225,636...18,245,602 		JBrowse link
G Gsk3b glycogen synthase kinase 3 beta treatment IMP RGD PMID:19666099 RGD:10045579 NCBI chr16:37,909,363...38,066,446
Ensembl chr16:37,909,363...38,066,446 		JBrowse link
G Tpmt thiopurine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19898482 NCBI chr13:47,175,463...47,196,833
Ensembl chr13:47,175,958...47,198,213 		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 cytoskeletal-associated protein ISO RGD PMID:17275194 RGD:8655559 NCBI chr15:74,540,930...74,544,419
Ensembl chr15:74,540,932...74,544,419 		JBrowse link
G Bdnf brain derived neurotrophic factor IEP
IMP
ISO		 protein:increased expression:cochlea: RGD PMID:19925854 PMID:22723694 PMID:17275194 RGD:8636263, RGD:8655575, RGD:8655559 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Calb1 calbindin 1 ISO RGD PMID:22428005 RGD:401940127 NCBI chr 4:15,881,264...15,906,709
Ensembl chr 4:15,881,264...15,908,064 		JBrowse link
G Cat catalase susceptibility
severity
treatment		 ISO
IEP		 DNA:SNPs,haplotype:: RGD PMID:17567781 PMID:18212468 PMID:23179931 RGD:9068906, RGD:9190810, RGD:9068923 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA:increased expression:cochlea (mouse) RGD PMID:17081714 RGD:8549464 NCBI chr11:81,926,403...81,928,278
Ensembl chr11:81,926,397...81,928,279 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IMP RGD PMID:17075702 RGD:8657356 NCBI chr 9:123,901,954...123,913,594
Ensembl chr 9:123,901,987...123,913,594 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) no_association ISO DNA:SNPs: :rs1227049, rs3802711 (human)
DNA:SNPs: :rs1227049, rs1227051 (human)		 RGD PMID:16598924 PMID:16598924 RGD:8662283, RGD:8662283 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Cdkn1a cyclin dependent kinase inhibitor 1A IEP RGD PMID:21187137 RGD:8661793 NCBI chr17:29,309,953...29,319,696
Ensembl chr17:29,309,950...29,319,701 		JBrowse link
G Cfi complement component factor i ISO mRNA:increased expression:spiral organ of cochlea, sensory epithelium RGD PMID:23727008 RGD:8662317 NCBI chr 3:129,630,432...129,668,978
Ensembl chr 3:129,629,533...129,668,981 		JBrowse link
G Cntn1 contactin 1 ISO RGD PMID:22044737 RGD:5685697 NCBI chr15:91,949,034...92,239,834
Ensembl chr15:91,949,046...92,239,848 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO RGD PMID:22428005 RGD:401940127 NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757 		JBrowse link
G Gad1 glutamate decarboxylase 1 ISO RGD PMID:22428005 RGD:401940127 NCBI chr 2:70,392,109...70,432,358
Ensembl chr 2:70,383,416...70,432,358 		JBrowse link
G Gap43 growth associated protein 43 ISO RGD PMID:22428005 RGD:401940127 NCBI chr16:42,068,915...42,161,014
Ensembl chr16:42,068,805...42,161,014 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO protein:increased expression:cochlea: RGD PMID:15224875 RGD:7349367 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		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 chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Hif1a hypoxia inducible factor 1, alpha subunit treatment IDA RGD PMID:21787680 RGD:8695948 NCBI chr12:73,948,186...73,994,304
Ensembl chr12:73,948,149...73,994,304 		JBrowse link
G Hspa1a heat shock protein 1A ISO DNA:SNP, haplotype: :rs1043618 (human) RGD PMID:17009596 RGD:8662466 NCBI chr17:35,188,335...35,191,132
Ensembl chr17:35,188,166...35,191,132 		JBrowse link
G Hspa1b heat shock protein 1B ISO DNA:SNP, haplotype: :rs1061581 (human) RGD PMID:18813331 RGD:8662841 NCBI chr17:35,175,405...35,178,214
Ensembl chr17:35,175,412...35,178,214 		JBrowse link
G Hspa1l heat shock protein 1-like ISO DNA:SNP, haplotype: :rs2227956 (human) RGD PMID:17009596 RGD:8662466 NCBI chr17:35,191,679...35,198,204
Ensembl chr17:35,191,679...35,198,261 		JBrowse link
G Icam1 intercellular adhesion molecule 1 ISO RGD PMID:19213042 RGD:8547577 NCBI chr 9:20,927,236...20,940,110
Ensembl chr 9:20,927,281...20,940,113 		JBrowse link
G Igf1 insulin-like growth factor 1 ISO RGD PMID:16585854 RGD:8549455 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Il6 interleukin 6 ISO RGD PMID:16429448 RGD:7829818 NCBI chr 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Kcne1 potassium voltage-gated channel, Isk-related subfamily, member 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 chr16:92,142,889...92,156,356
Ensembl chr16:92,142,870...92,156,356 		JBrowse link
G Kcnq1 potassium voltage-gated channel, subfamily Q, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823764 NCBI chr 7:142,660,614...142,980,787
Ensembl chr 7:142,660,099...142,980,779 		JBrowse link
G Kcnq4 potassium voltage-gated channel, subfamily Q, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16823764 NCBI chr 4:120,553,331...120,605,809
Ensembl chr 4:120,553,335...120,605,809 		JBrowse link
G Mir107 microRNA 107 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr19:34,798,087...34,798,173
Ensembl chr19:34,798,087...34,798,173 		JBrowse link
G Mir10a microRNA 10a ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr11:96,207,991...96,208,100
Ensembl chr11:96,207,991...96,208,100 		JBrowse link
G Mir130b microRNA 130b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr16:16,941,925...16,942,006
Ensembl chr16:16,941,925...16,942,006 		JBrowse link
G Mir146b microRNA 146b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr19:46,331,201...46,331,309
Ensembl chr19:46,331,201...46,331,309 		JBrowse link
G Mir183 microRNA 183 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 6:30,169,667...30,169,736
Ensembl chr 6:30,169,667...30,169,736 		JBrowse link
G Mir186 microRNA 186 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 3:157,249,916...157,249,986
Ensembl chr 3:157,249,916...157,249,986 		JBrowse link
G Mir190b microRNA 190b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 3:89,977,327...89,977,406
Ensembl chr 3:89,977,327...89,977,406 		JBrowse link
G Mir200c microRNA 200c ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 6:124,695,285...124,695,353
Ensembl chr 6:124,695,285...124,695,353 		JBrowse link
G Mir30d microRNA 30d ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr15:68,213,057...68,213,138
Ensembl chr15:68,213,057...68,213,138 		JBrowse link
G Mir30e microRNA 30e ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 4:120,629,803...120,629,894
Ensembl chr 4:120,629,803...120,629,894 		JBrowse link
G Mir325 microRNA 325 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr  X:104,422,688...104,422,785
Ensembl chr  X:104,422,688...104,422,785 		JBrowse link
G Mir331 microRNA 331 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr10:93,799,630...93,799,725
Ensembl chr10:93,799,630...93,799,725 		JBrowse link
G Mir339 microRNA 339 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 5:139,355,405...139,355,500
Ensembl chr 5:139,355,405...139,355,500 		JBrowse link
G Mir381 microRNA 381 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr12:109,693,256...109,693,330
Ensembl chr12:109,693,256...109,693,330 		JBrowse link
G Mir429 microRNA 429 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 4:156,138,362...156,138,444
Ensembl chr 4:156,138,362...156,138,444 		JBrowse link
G Mir532 microRNA 532 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr  X:7,114,641...7,114,736
Ensembl chr  X:7,114,641...7,114,736 		JBrowse link
G Mir674 microRNA 674 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr 2:117,015,608...117,015,707
Ensembl chr 2:117,015,608...117,015,707 		JBrowse link
G Mir99b microRNA 99b ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr17:18,050,450...18,050,519
Ensembl chr17:18,050,450...18,050,519 		JBrowse link
G Mmp7 matrix metallopeptidase 7 IMP RGD PMID:23100416 RGD:9685340 NCBI chr 9:7,692,095...7,699,587
Ensembl chr 9:7,692,091...7,699,586 		JBrowse link
G Nob1 NIN1/RPN12 binding protein 1 homolog ISO mRNA:increased expression:cochlea RGD PMID:21219967 RGD:10766449 NCBI chr 8:108,139,121...108,151,670
Ensembl chr 8:108,139,118...108,151,683 		JBrowse link
G Ogg1 8-oxoguanine DNA-glycosylase 1 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 6:113,303,959...113,311,149
Ensembl chr 6:113,303,933...113,312,029 		JBrowse link
G Pon2 paraoxonase 2 susceptibility ISO DNA:SNPs: :multiple RGD PMID:23327886 RGD:8661240 NCBI chr 6:5,264,620...5,298,408
Ensembl chr 6:5,264,147...5,298,455 		JBrowse link
G Proc protein C treatment ISO RGD PMID:25108045 RGD:11100045 NCBI chr18:32,256,179...32,272,623
Ensembl chr18:32,256,179...32,272,623 		JBrowse link
G Ptger4 prostaglandin E receptor 4 (subtype EP4) resistance IMP RGD PMID:22198478 RGD:6483524 NCBI chr15:5,262,880...5,273,668
Ensembl chr15:5,236,142...5,273,668 		JBrowse link
G Sell selectin, lymphocyte ISO RGD PMID:22044737 RGD:5685697 NCBI chr 1:163,889,556...163,908,354
Ensembl chr 1:163,889,551...163,911,750 		JBrowse link
G Slc26a5 solute carrier family 26, member 5 IEP mRNA, protein:increased expression:cochlea (mouse) RGD PMID:24376553 RGD:9585684 NCBI chr 5:22,013,999...22,070,602
Ensembl chr 5:22,015,653...22,070,602 		JBrowse link
G Sod1 superoxide dismutase 1, soluble susceptibility
severity		 ISO
IMP		 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 chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial 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 chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Src Rous sarcoma oncogene treatment ISO RGD PMID:21840347 RGD:11554196 NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782 		JBrowse link
G Taok1 TAO kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23472202 NCBI chr11:77,419,988...77,516,185
Ensembl chr11:77,419,988...77,498,641 		JBrowse link
G Tnf tumor necrosis factor ISO mRNA:increased expression:cochlea: RGD PMID:19051071 RGD:7394705 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
Hearing Loss, Unilateral Sensorineural term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H2-M2 histocompatibility 2, M region locus 2 ISO Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphism:cds:HLA-Bw54 (human) RGD PMID:2909230 RGD:7365120 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		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 5:3,689,961...3,697,936
Ensembl chr 5:3,682,932...3,707,185 		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 5:3,646,066...3,687,230
Ensembl chr 5:3,646,066...3,687,232 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 6:121,160,176...121,175,796
Ensembl chr 6:121,160,626...121,175,796 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:47,022,402...47,036,469
Ensembl chr17:47,022,389...47,036,467 		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 chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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
IAGP		 CTD Direct Evidence: marker/mechanism
OMIM:221200
ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome		 OMIM
CTD
MouseDO
ClinVar		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581 		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 IMP RGD PMID:23996384 RGD:7394699 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		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 (nucleoside transporters), 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 chr10:60,547,851...60,588,624
Ensembl chr10:60,547,851...60,588,573 		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 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659 		JBrowse link
G Ep300 E1A binding protein p300 ISO ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome ClinVar PMID:29300383 NCBI chr15:81,470,329...81,536,273
Ensembl chr15:81,469,552...81,536,278 		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 chr15:75,942,031...75,954,386
Ensembl chr15:75,942,031...75,952,773 		JBrowse link
G Sema3e sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (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 5:14,075,290...14,306,703
Ensembl chr 5:14,075,290...14,306,703 		JBrowse link
Hypokalemic Tubulopathy and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj16 potassium inwardly-rectifying channel, subfamily J, member 16 ISO ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness ClinVar
OMIM		 PMID:33811157 NCBI chr11:110,858,859...110,918,794
Ensembl chr11:110,858,859...110,918,794 		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-Coenzyme A binding domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,333,850...3,342,035
Ensembl chr 2:3,337,205...3,342,030 		JBrowse link
G Akr1c18 aldo-keto reductase family 1, member C18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:4,182,614...4,200,645
Ensembl chr13:4,182,614...4,200,653 		JBrowse link
G Akr1c20 aldo-keto reductase family 1, member C20 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:4,536,855...4,573,353
Ensembl chr13:4,536,848...4,573,344 		JBrowse link
G Akr1c21 aldo-keto reductase family 1, member C21 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:4,624,074...4,636,542
Ensembl chr13:4,624,074...4,636,540 		JBrowse link
G Akr1c6 aldo-keto reductase family 1, member C6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:4,484,354...4,507,529
Ensembl chr13:4,484,305...4,507,876 		JBrowse link
G Akr1e1 aldo-keto reductase family 1, member E1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:4,641,122...4,659,163
Ensembl chr13:4,640,749...4,659,173 		JBrowse link
G Ankrd16 ankyrin repeat domain 16 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:11,781,902...11,795,138
Ensembl chr 2:11,782,687...11,795,140 		JBrowse link
G Arl5b ADP-ribosylation factor-like 5B ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:15,060,066...15,087,267
Ensembl chr 2:15,054,206...15,087,267 		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 chr13:3,683,589...3,703,822
Ensembl chr13:3,684,032...3,703,822 		JBrowse link
G Atp5f1c ATP synthase F1 subunit gamma ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:10,060,841...10,085,321
Ensembl chr 2:10,060,827...10,085,321 		JBrowse link
G Bend7 BEN domain containing 7 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:4,722,593...4,807,035
Ensembl chr 2:4,722,642...4,806,953 		JBrowse link
G C1ql3 C1q-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:13,006,591...13,016,491
Ensembl chr 2:13,008,268...13,016,617 		JBrowse link
G Cacnb2 calcium channel, voltage-dependent, beta 2 subunit ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:14,608,672...14,993,622
Ensembl chr 2:14,607,899...14,992,719 		JBrowse link
G Calm4 calmodulin 4 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:3,887,757...3,888,671
Ensembl chr13:3,887,757...3,888,673 		JBrowse link
G Calml3 calmodulin-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:3,852,893...3,854,318
Ensembl chr13:3,852,896...3,854,316 		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 chr 2:5,298,268...5,719,665
Ensembl chr 2:5,298,268...5,719,326 		JBrowse link
G Ccdc3 coiled-coil domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:5,142,587...5,235,682
Ensembl chr 2:5,142,587...5,235,689 		JBrowse link
G Cdc123 cell division cycle 123 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:5,799,105...5,849,988
Ensembl chr 2:5,799,105...5,849,975 		JBrowse link
G Cdnf cerebral dopamine neurotrophic factor ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,514,102...3,527,413
Ensembl chr 2:3,514,067...3,527,413 		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 chr 2:6,544,505...7,401,345
Ensembl chr 2:6,544,505...7,514,374 		JBrowse link
G Cubn cubilin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:13,281,149...13,496,687
Ensembl chr 2:13,281,149...13,496,624 		JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,425,112...3,475,248
Ensembl chr 2:3,425,168...3,465,167 		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 chr 2:5,901,030...5,947,648
Ensembl chr 2:5,900,926...5,947,603 		JBrowse link
G Echdc3 enoyl Coenzyme A hydratase domain containing 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:6,193,276...6,217,805
Ensembl chr 2:6,193,276...6,217,844 		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 chr 2:3,705,049...3,783,179
Ensembl chr 2:3,571,525...3,783,179 		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 chr 2:3,115,261...3,228,843
Ensembl chr 2:3,115,261...3,228,843 		JBrowse link
G Fbh1 F-box DNA helicase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:11,747,384...11,782,396
Ensembl chr 2:11,747,384...11,782,393 		JBrowse link
G Frmd4a FERM domain containing 4A ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:4,022,461...4,618,854
Ensembl chr 2:4,022,528...4,618,854 		JBrowse link
G Gata3 GATA binding protein 3 ISO
IAGP		 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 chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845 		JBrowse link
G Gdi2 GDP dissociation inhibitor 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:3,588,075...3,616,261
Ensembl chr13:3,588,063...3,617,871 		JBrowse link
G Hacd1 3-hydroxyacyl-CoA dehydratase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:14,031,642...14,060,846
Ensembl chr 2:13,855,093...14,060,847 		JBrowse link
G Il15ra interleukin 15 receptor, alpha chain ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:11,709,992...11,739,129
Ensembl chr 2:11,710,101...11,739,128 		JBrowse link
G Il2ra interleukin 2 receptor, alpha chain ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:11,647,603...11,698,005
Ensembl chr 2:11,647,618...11,698,004 		JBrowse link
G Itga8 integrin alpha 8 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:12,111,443...12,306,755
Ensembl chr 2:12,111,443...12,306,733 		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 chr 2:10,099,408...10,135,492
Ensembl chr 2:10,099,404...10,136,207 		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 chr 2:10,158,354...10,261,340
Ensembl chr 2:10,158,382...10,261,340 		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 chr 2:10,085,397...10,097,512
Ensembl chr 2:10,085,404...10,097,617 		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 chr 2:4,995,535...5,017,602
Ensembl chr 2:4,994,525...5,017,602 		JBrowse link
G Meig1 meiosis expressed gene 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,410,080...3,423,685
Ensembl chr 2:3,410,080...3,423,685 		JBrowse link
G Mindy3 MINDY lysine 48 deubiquitinase 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:12,352,074...12,424,298
Ensembl chr 2:12,352,074...12,424,281 		JBrowse link
G Net1 neuroepithelial cell transforming gene 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:3,932,018...3,968,220
Ensembl chr13:3,932,018...3,968,220 		JBrowse link
G Nmt2 N-myristoyltransferase 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,285,249...3,329,914
Ensembl chr 2:3,285,249...3,329,914 		JBrowse link
G Nsun6 NOL1/NOP2/Sun domain family member 6 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:14,995,255...15,059,683
Ensembl chr 2:14,999,942...15,059,880 		JBrowse link
G Nudt5 nudix hydrolase 5 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:5,849,839...5,875,631
Ensembl chr 2:5,849,830...5,876,706 		JBrowse link
G Olah oleoyl-ACP hydrolase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,343,019...3,367,964
Ensembl chr 2:3,343,019...3,398,247 		JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:5,023,902...5,069,210
Ensembl chr 2:5,025,453...5,068,862 		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 chr 2:11,476,241...11,558,882
Ensembl chr 2:11,476,244...11,558,888 		JBrowse link
G Phyh phytanoyl-CoA hydroxylase ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:4,923,807...4,943,554
Ensembl chr 2:4,923,830...4,943,541 		JBrowse link
G Prkcq protein kinase C, theta ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:11,176,922...11,306,033
Ensembl chr 2:11,176,919...11,306,033 		JBrowse link
G Proser2 proline and serine rich 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:6,103,304...6,135,100
Ensembl chr 2:6,102,418...6,135,022 		JBrowse link
G Prpf18 pre-mRNA processing factor 18 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:4,626,869...4,656,946
Ensembl chr 2:4,626,869...4,656,924 		JBrowse link
G Pter phosphotriesterase related ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:12,928,828...13,008,265
Ensembl chr 2:12,928,852...13,008,266 		JBrowse link
G Rbm17 RNA binding motif protein 17 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:11,590,250...11,608,061
Ensembl chr 2:11,590,248...11,608,964 		JBrowse link
G Rpp38 ribonuclease P/MRP 38 subunit ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,328,305...3,334,023
Ensembl chr 2:3,329,986...3,333,680 		JBrowse link
G Rsu1 Ras suppressor protein 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:13,081,778...13,276,116
Ensembl chr 2:13,081,632...13,276,226 		JBrowse link
G Sec61a2 SEC61 translocon subunit alpha 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:5,875,788...5,900,199
Ensembl chr 2:5,875,798...5,900,243 		JBrowse link
G Sephs1 selenophosphate synthetase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:4,886,375...4,915,368
Ensembl chr 2:4,886,375...4,915,368 		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 chr 2:10,375,251...10,600,064
Ensembl chr 2:10,375,321...10,600,064 		JBrowse link
G Slc39a12 solute carrier family 39 (zinc transporter), member 12 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:14,345,476...14,499,787
Ensembl chr 2:14,393,127...14,499,788 		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 chr 2:13,659,745...13,798,659
Ensembl chr 2:13,655,832...13,798,875 		JBrowse link
G Stam signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:14,078,912...14,152,351
Ensembl chr 2:14,078,909...14,154,445 		JBrowse link
G Suv39h2 suppressor of variegation 3-9 2 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:3,456,852...3,476,085
Ensembl chr 2:3,456,852...3,476,068 		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 chr 2:9,919,363...10,053,420
Ensembl chr 2:9,919,363...10,053,407 		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 chr13:3,615,905...3,661,108
Ensembl chr13:3,616,035...3,661,108 		JBrowse link
G Trdmt1 tRNA aspartic acid methyltransferase 1 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:13,509,690...13,549,475
Ensembl chr 2:13,513,825...13,549,479 		JBrowse link
G Tubal3 tubulin, alpha-like 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:3,974,695...3,985,277
Ensembl chr13:3,968,274...3,985,277 		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 chr 2:4,980,933...4,990,559
Ensembl chr 2:4,980,933...4,990,559 		JBrowse link
G Ucn3 urocortin 3 ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr13:3,990,688...3,995,349
Ensembl chr13:3,990,688...3,995,349 		JBrowse link
G Upf2 UPF2 regulator of nonsense transcripts homolog (yeast) ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:5,956,218...6,061,514
Ensembl chr 2:5,956,280...6,061,514 		JBrowse link
G Usp6nl USP6 N-terminal like ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:6,327,444...6,453,107
Ensembl chr 2:6,327,478...6,451,201 		JBrowse link
G Vim vimentin ISO ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome ClinVar PMID:25741868 NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637 		JBrowse link
Ichthyosiform Erythroderma, Corneal Involvement, Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor protein complex AP-1, beta 1 subunit ISO ClinVar Annotator: match by term: Autosomal recessive keratitis-ichthyosis-deafness syndrome OMIM
ClinVar		 PMID:25741868 PMID:31630788 PMID:31630791 PMID:32969855 PMID:33349978 More... NCBI chr11:4,897,320...4,992,731
Ensembl chr11:4,936,824...4,992,791 		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:15769976 PMID:18317720 PMID:19240240 PMID:21915365 More... NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
ITM2B-related cerebral amyloid angiopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itm2b integral membrane protein 2B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Heredopathia ophthalmootoencephalica		 OMIM
CTD
ClinVar		 PMID:5457846 PMID:10781099 PMID:25741868 PMID:28492532 PMID:31719132 NCBI chr14:73,599,666...73,622,729
Ensembl chr14:73,599,666...73,622,729 		JBrowse link
IVIC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sall4 spalt like transcription factor 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: SALL4-Related Spectrum Disorders		 OMIM
CTD
ClinVar		 PMID:7395922 PMID:17256792 PMID:25741868 PMID:28492532 NCBI chr 2:168,590,252...168,609,121
Ensembl chr 2:168,590,252...168,609,863 		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
IAGP		 ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: Nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness
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:243800		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:23778732 PMID:24033266 More... RGD:155882463, RGD:155882462 NCBI chr 2:120,690,753...120,801,246
Ensembl chr 2:120,690,750...120,801,196 		JBrowse link
Keipert syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpc4 glypican 4 ISO ClinVar Annotator: match by term: Keipert syndrome OMIM
ClinVar		 PMID:4708024 PMID:25741868 PMID:30982611 NCBI chr  X:51,139,884...51,253,800
Ensembl chr  X:51,141,898...51,254,129 		JBrowse link
Keratitis-Ichthyosis-Deafness Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Keratitis-Ichthyosis-Deafness Syndrome ClinVar PMID:22567369 NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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 2210016L21Rik RIKEN cDNA 2210016L21 gene ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr 5:115,080,213...115,086,610
Ensembl chr 5:115,080,217...115,087,842 		JBrowse link
G Hnf1a HNF1 homeobox A ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive ClinVar PMID:30561130 NCBI chr 5:115,087,039...115,109,121
Ensembl chr 5:115,087,039...115,109,153 		JBrowse link
G Vps33b vacuolar protein sorting 33B ISO ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive OMIM
ClinVar		 PMID:25741868 PMID:28017832 NCBI chr 7:79,919,369...79,941,323
Ensembl chr 7:79,919,397...79,941,502 		JBrowse link
Kilquist Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc12a2 solute carrier family 12, member 2 ISO ClinVar Annotator: match by term: Kilquist syndrome OMIM
ClinVar		 PMID:25741868 PMID:25741909 PMID:25741913 PMID:28492532 PMID:30740830 More... NCBI chr18:58,011,505...58,079,893
Ensembl chr18:58,011,750...58,079,893 		JBrowse link
lacrimoauriculodentodigital syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 IAGP
ISO		 OMIM:149730
ClinVar Annotator: match by term: Levy-Hollister syndrome		 MouseDO
ClinVar		 PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome OMIM
ClinVar		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
lacrimoauriculodentodigital syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 2 OMIM
ClinVar		 NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
lacrimoauriculodentodigital syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3 OMIM
ClinVar		 PMID:15654336 PMID:16501574 PMID:16630169 PMID:37077496 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
LADD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:16630169 PMID:17213838 PMID:25741868 PMID:26955834 PMID:28492532 NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome		 CTD
ClinVar		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome ClinVar PMID:1908846 PMID:7647778 PMID:7649548 PMID:7670477 PMID:7702086 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412 		JBrowse link
LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS | ClinVar Annotator: match by term: Leukoencephalopathy, progressive, infantile-onset, with or without deafness OMIM
ClinVar		 PMID:21181198 PMID:21427441 PMID:23596069 PMID:23768514 PMID:24824130 More... NCBI chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955 		JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 polymerase (DNA directed), delta 1, catalytic subunit susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 More... NCBI chr 7:44,182,168...44,198,239
Ensembl chr 7:44,182,170...44,198,273 		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 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 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
G Pcdh12 protocadherin 12 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:38,400,145...38,417,454
Ensembl chr18:38,400,142...38,417,455 		JBrowse link
G Rnf14 ring finger protein 14 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr18:38,410,513...38,450,905
Ensembl chr18:38,417,590...38,450,902 		JBrowse link
G Rnpc3 RNA-binding region (RNP1, RRM) containing 3 ISO ClinVar Annotator: match by term: Marshall syndrome ClinVar PMID:25741868 NCBI chr 3:113,398,716...113,423,798
Ensembl chr 3:113,398,716...113,423,798 		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 ISO ClinVar Annotator: match by term: Marshall/Stickler syndrome ClinVar PMID:1536174 PMID:10486316 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar PMID:25741868 NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297 		JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 PMID:25741868 NCBI chr 6:52,139,389...52,141,808
Ensembl chr 6:52,139,397...52,141,811 		JBrowse link
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ammecr1 AMMECR nuclear protein 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: AMMECR1-related condition | ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		 OMIM
CTD
ClinVar		 PMID:21681106 PMID:25741868 PMID:27811305 PMID:28089922 PMID:28492532 More... NCBI chr  X:141,634,142...141,749,722
Ensembl chr  X:141,634,142...141,749,724 		JBrowse link
G Gng5c G protein subunit gamma 5C ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr17:28,945,200...28,945,678
Ensembl chr17:28,945,057...28,945,674 		JBrowse link
G Rtl9 retrotransposon Gag like 9 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar NCBI chr  X:141,841,655...141,888,326
Ensembl chr  X:141,876,886...141,887,293 		JBrowse link
G Tmem164 transmembrane protein 164 ISO ClinVar Annotator: match by term: Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis ClinVar PMID:21681106 PMID:27811305 PMID:28089922 NCBI chr  X:141,463,343...141,626,490
Ensembl chr  X:141,464,402...141,626,490 		JBrowse link
Mitchell syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acox1 acyl-Coenzyme A oxidase 1, palmitoyl ISO ClinVar Annotator: match by term: Mitchell syndrome OMIM
ClinVar		 PMID:8040306 PMID:16199547 PMID:17458872 PMID:25741868 PMID:28492532 More... NCBI chr11:116,062,714...116,089,605
Ensembl chr11:116,062,714...116,089,871 		JBrowse link
Mitochondrial Myopathy with Lactic Acidosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Ts1 tRNA serine 1, mitochondrial ISO ClinVar Annotator: match by term: Exercise intolerance, muscle pain, and lactic acidemia ClinVar PMID:9778262 PMID:14605505 PMID:16199753 PMID:20064630 PMID:31965079 More... NCBI chr MT:6,870...6,938
Ensembl chr MT:6,870...6,938 		JBrowse link
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 chr12:44,315,916...44,362,718
Ensembl chr12:44,268,153...44,369,315 		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 cytochrome c oxidase I, mitochondrial 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:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G mt-Nd1 NADH dehydrogenase 1, mitochondrial 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:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
G mt-Rnr1 12S rRNA, mitochondrial 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:70...1,024
Ensembl chr MT:70...1,024 		JBrowse link
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:21931169 PMID:31965079 PMID:32906214 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
G mt-Ti tRNA isoleucine, mitochondrial ISO ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:8889580 PMID:9461455 PMID:11406419 PMID:12655007 PMID:15233983 More... NCBI chr MT:3,706...3,774
Ensembl chr MT:3,706...3,774 		JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial 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:6,870...6,938
Ensembl chr MT:6,870...6,938 		JBrowse link
Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfer growth factor, augmenter of liver regeneration ISO ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX DEFICIENCY, COMBINED | ClinVar Annotator: match by term: Myopathy with cataract and combined respiratory-chain deficiency | ClinVar Annotator: match by term: Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8627443 PMID:16199547 PMID:18414213 PMID:19409522 PMID:20593814 More... NCBI chr17:24,912,164...24,915,065
Ensembl chr17:24,912,161...24,915,130 		JBrowse link
G Ryr1 ryanodine receptor 1, skeletal muscle ISO ClinVar Annotator: match by term: Myopathy, progressive axial with cataracts ClinVar PMID:18813041 PMID:20301325 PMID:21878807 PMID:21918424 PMID:22473935 More... NCBI chr 7:28,702,765...28,824,599
Ensembl chr 7:28,702,769...28,824,604 		JBrowse link
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Map3k7 mitogen-activated protein kinase kinase kinase 7 ISO DNA:missense mutations, deletions:CDS:multiple (human)
ClinVar Annotator: match by term: Cardiospondylocarpofacial syndrome		 OMIM
ClinVar
RGD		 PMID:20186786 PMID:25741868 PMID:27426733 PMID:27426734 PMID:28492532 More... RGD:11552967 NCBI chr 4:31,963,659...32,023,470
Ensembl chr 4:31,964,097...32,023,467 		JBrowse link
Muckle-Wells syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il1rn interleukin 1 receptor antagonist ISO RGD PMID:22146561 RGD:6906895 NCBI chr 2:24,226,872...24,241,503
Ensembl chr 2:24,226,865...24,241,506 		JBrowse link
G Nlrp3 NLR family, pyrin domain containing 3 ISO ClinVar Annotator: match by term: MUCKLE-WELLS SYNDROME | ClinVar Annotator: match by term: UDA syndrome | ClinVar Annotator: match by term: Urticaria-deafness-amyloidosis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:49161 PMID:11687797 PMID:11992256 PMID:12032915 PMID:12355493 More... NCBI chr11:59,432,395...59,457,781
Ensembl chr11:59,432,394...59,457,782 		JBrowse link
multiple epiphyseal dysplasia with myopia and deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen, type II, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, with myopia and conductive deafness | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia, Beighton type		 OMIM
CTD
ClinVar		 PMID:7695699 PMID:7977371 PMID:8218237 PMID:8702139 PMID:8893763 More... NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
multiple synostoses syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf9 fibroblast growth factor 9 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome ClinVar NCBI chr14:58,308,543...58,350,311
Ensembl chr14:58,308,004...58,350,177 		JBrowse link
G Gdf5 growth differentiation factor 5 ISO ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:missense mutation:cds:p.R438L(1313G>T)(human)		 ClinVar
RGD		 PMID:16532400 RGD:12738199 NCBI chr 2:155,782,943...155,787,204
Ensembl chr 2:155,782,943...155,787,287 		JBrowse link
G Nog noggin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Symphalangism-brachydactyly syndrome
DNA:mutation:cds:1426G>C (P.W205C)(Human)		 CTD
ClinVar
OMIM
RGD		 PMID:3667255 PMID:6638061 PMID:10080184 PMID:11846737 PMID:15770128 More... RGD:1600234, RGD:12801467 NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158 		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 chr13:14,224,375...14,238,319
Ensembl chr13:14,225,244...14,238,073 		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 polypeptide 9, non-muscle ISO
IAGP
IMP		 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
CTD Direct Evidence: marker/mechanism
OMIM:153640 | OMIM:153650 | OMIM:155100 | OMIM:605249
DNA:mutation:cds:p.R702C(mouse)
DNA:mutation:exon:p.E1841K(human)
DNA:missense mutations:exons:multiple		 ClinVar
CTD
MouseDO
OMIM
RGD		 PMID:1449176 PMID:5011389 PMID:8280620 PMID:9390828 PMID:9536098 More... RGD:6902926, RGD:11533924, RGD:11532766, RGD:6903235 NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		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 2:174,292,388...174,300,173
Ensembl chr 2:174,292,488...174,299,675 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Afg2b AFG2 AAA ATPase homolog B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hearing loss and spasticity | ClinVar Annotator: match by term: SPATA5L1-associated disorder OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:34626583 NCBI chr 2:122,461,112...122,474,933
Ensembl chr 2:122,461,120...122,474,750 		JBrowse link
neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adad1 adenosine deaminase domain containing 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 3:37,117,805...37,165,661
Ensembl chr 3:37,117,676...37,176,079 		JBrowse link
G Afg2a AFG2 AAA ATPase homolog A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:25640679 PMID:25741868 More... NCBI chr 3:37,474,052...37,633,245
Ensembl chr 3:37,474,045...37,633,245 		JBrowse link
G Anxa5 annexin A5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 3:36,503,072...36,530,036
Ensembl chr 3:36,503,072...36,530,043 		JBrowse link
G Bbs12 Bardet-Biedl syndrome 12 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:26299366 PMID:28492532 NCBI chr 3:37,366,695...37,383,334
Ensembl chr 3:37,366,703...37,375,602 		JBrowse link
G Bbs7 Bardet-Biedl syndrome 7 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 3:36,627,291...36,667,639
Ensembl chr 3:36,627,291...36,667,626 		JBrowse link
G Bltp1 bridge-like lipid transfer protein family member 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 3:36,917,212...37,107,182
Ensembl chr 3:36,917,253...37,107,182 		JBrowse link
G Ccna2 cyclin A2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 3:36,619,014...36,627,187
Ensembl chr 3:36,619,014...36,626,299 		JBrowse link
G Exosc9 exosome component 9 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 3:36,606,755...36,619,876
Ensembl chr 3:36,606,755...36,619,876 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:26299366 PMID:28492532 NCBI chr 3:37,402,616...37,464,255
Ensembl chr 3:37,402,495...37,464,257 		JBrowse link
G Il2 interleukin 2 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		JBrowse link
G Il21 interleukin 21 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 3:37,276,908...37,286,785
Ensembl chr 3:37,276,908...37,286,785 		JBrowse link
G Ndnf neuron-derived neurotrophic factor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 6:65,648,595...65,689,307
Ensembl chr 6:65,648,574...65,689,310 		JBrowse link
G Nudt6 nudix hydrolase 6 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:26299366 PMID:28492532 NCBI chr 3:37,459,126...37,474,391
Ensembl chr 3:37,459,059...37,474,360 		JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 6:65,754,640...65,914,606
Ensembl chr 6:65,755,972...65,913,994 		JBrowse link
G Qrfpr pyroglutamylated RFamide peptide receptor ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 3:36,233,575...36,276,462
Ensembl chr 3:36,233,573...36,276,462 		JBrowse link
G Smim43 small integral membrane protein 43 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 3:36,569,776...36,582,326
Ensembl chr 3:36,569,206...36,586,533 		JBrowse link
G Spry1 sprouty RTK signaling antagonist 1 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 3:37,694,096...37,698,748
Ensembl chr 3:37,694,096...37,698,747 		JBrowse link
G Tnip3 TNFAIP3 interacting protein 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 6:65,567,382...65,611,024
Ensembl chr 6:65,502,297...65,611,024 		JBrowse link
G Trpc3 transient receptor potential cation channel, subfamily C, member 3 ISO ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES ClinVar PMID:28492532 NCBI chr 3:36,674,626...36,744,276
Ensembl chr 3:36,674,631...36,744,316 		JBrowse link
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nrde2 nrde-2 necessary for RNA interference, domain containing ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ClinVar PMID:35861243 NCBI chr12:100,091,709...100,126,981
Ensembl chr12:100,091,711...100,125,912 		JBrowse link
G Psmc1 protease (prosome, macropain) 26S subunit, ATPase 1 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss ClinVar
OMIM		 PMID:35861243 NCBI chr12:100,076,461...100,089,623
Ensembl chr12:100,076,413...100,089,664 		JBrowse link
Noninsulin-Dependent Diabetes Mellitus with Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Te tRNA glutamic acid, mitochondrial ISO ClinVar Annotator: match by term: Diabetes mellitus type II with deafness | ClinVar Annotator: match by term: Diabetes-deafness syndrome maternally transmitted ClinVar PMID:4114165 PMID:7726154 PMID:7726155 PMID:9353617 PMID:10392369 More... NCBI chr MT:14,071...14,139
Ensembl chr MT:14,071...14,139 		JBrowse link
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: Diabetes-deafness syndrome maternally transmitted ClinVar PMID:9571188 PMID:12504210 PMID:31965079 NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764 		JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Diabetes mellitus type II with deafness		 CTD
ClinVar		 PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		JBrowse link
G mt-Tl2 tRNA leucine 2, mitochondrial ISO ClinVar Annotator: match by term: Diabetes-deafness syndrome maternally transmitted ClinVar PMID:25741868 PMID:31965079 NCBI chr MT:11,671...11,741
Ensembl chr MT:11,671...11,741 		JBrowse link
nonsyndromic deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma, cytoplasmic 1 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:13680526 PMID:19477959 PMID:30311386 NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		JBrowse link
G Alg10b ALG10 alpha-1,2-glucosyltransferase IAGP MouseDO NCBI chr15:90,108,506...90,117,674
Ensembl chr15:90,108,514...90,117,674 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:15660226 PMID:16679490 PMID:17850630 PMID:18429043 PMID:19683999 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Ceacam16 CEA cell adhesion molecule 16 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25589040 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29703829 More... NCBI chr 7:19,586,022...19,595,224
Ensembl chr 7:19,586,022...19,595,224 		JBrowse link
G Cldn9 claudin 9 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 NCBI chr17:23,901,558...23,903,000
Ensembl chr17:23,901,558...23,903,000 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:9931344 PMID:10400989 PMID:11332404 PMID:14512963 PMID:16151338 More... NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25633957 PMID:28492532 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Col4a5 collagen, type IV, alpha 5 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:28492532 PMID:30311386 NCBI chr  X:140,258,367...140,472,232
Ensembl chr  X:140,258,381...140,472,230 		JBrowse link
G Cryl1 crystallin, lambda 1 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11807148 PMID:12917317 PMID:14571368 PMID:14681039 PMID:15994881 More... NCBI chr14:57,512,491...57,635,940
Ensembl chr14:57,512,450...57,635,986 		JBrowse link
G Dcdc2a doublecortin domain containing 2a ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:16244493 PMID:25601850 NCBI chr13:25,239,126...25,394,689
Ensembl chr13:25,239,987...25,394,689 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:30311386 NCBI chr10:22,978,861...23,226,785
Ensembl chr10:22,978,862...23,226,684 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... NCBI chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		JBrowse link
G Gjb3 gap junction protein, beta 3 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11807148 PMID:12917317 PMID:14571368 PMID:14681039 PMID:15994881 More... NCBI chr14:57,360,760...57,370,764
Ensembl chr14:57,360,760...57,371,068 		JBrowse link
G Gsdme gasdermin E ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:7427029 PMID:15173223 PMID:17427029 PMID:24033266 PMID:25741868 More... NCBI chr 6:50,167,013...50,240,837
Ensembl chr 6:50,165,868...50,240,842 		JBrowse link
G Kars1 lysyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:21181198 PMID:23768514 PMID:24824130 PMID:25741868 NCBI chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955 		JBrowse link
G Kcnq4 potassium voltage-gated channel, subfamily Q, member 4 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8035838 PMID:10025409 PMID:10369879 PMID:18786918 PMID:20832469 More... NCBI chr 4:120,553,331...120,605,809
Ensembl chr 4:120,553,335...120,605,809 		JBrowse link
G Klc2 kinesin light chain 2 IAGP MouseDO NCBI chr19:5,157,774...5,168,326
Ensembl chr19:5,157,774...5,168,588 		JBrowse link
G Lars2 leucyl-tRNA synthetase, mitochondrial ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:23541342 PMID:28492532 PMID:30311386 PMID:30737337 NCBI chr 9:123,196,001...123,291,731
Ensembl chr 9:123,195,992...123,291,731 		JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:19732867 PMID:21465660 PMID:22975204 PMID:23226338 PMID:24033266 More... NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626 		JBrowse link
G Met met proto-oncogene ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive ClinVar PMID:25941349 NCBI chr 6:17,463,351...17,573,979
Ensembl chr 6:17,463,799...17,573,979 		JBrowse link
G Mitf melanogenesis associated transcription factor ISO ClinVar Annotator: match by term: Nonsyndromic Deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8659547 PMID:20127975 PMID:25741868 PMID:28492532 PMID:28690485 More... NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Mpdz multiple PDZ domain crumbs cell polarity complex component ISO ClinVar Annotator: match by term: Nonsyndromic hearing impairment ClinVar PMID:28492532 NCBI chr 4:81,196,736...81,361,112
Ensembl chr 4:81,196,742...81,361,052 		JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:7704031 PMID:9603736 PMID:17546645 PMID:20642360 PMID:23208854 More... NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,314...22,508,264 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:12687499 PMID:18348273 PMID:23767834 PMID:24033266 PMID:25080041 More... NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:8900236 PMID:10094549 PMID:10930322 PMID:15300860 PMID:15823922 More... NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:10903124 PMID:12114484 PMID:12127154 PMID:12525542 PMID:14635104 More... NCBI chr 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276 		JBrowse link
G Otog otogelin ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:24033266 NCBI chr 7:45,890,411...45,960,858
Ensembl chr 7:45,890,411...45,960,858 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Nonsyndromic Deafness ClinVar PMID:25741868 PMID:28281779 PMID:28492532 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 IAGP MouseDO NCBI chr 1:97,633,768...97,698,133
Ensembl chr 1:97,633,773...97,698,136 		JBrowse link
G Strc stereocilin ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:22147502 PMID:24033266 PMID:25741868 PMID:26969326 PMID:29425068 More... NCBI chr 2:121,193,729...121,211,851
Ensembl chr 2:121,194,209...121,217,649 		JBrowse link
G Syne4 spectrin repeat containing, nuclear envelope family member 4 ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness ClinVar PMID:23348741 PMID:24033266 PMID:25741868 PMID:28492532 PMID:28958982 NCBI chr 7:30,014,268...30,018,471
Ensembl chr 7:30,014,232...30,018,471 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO DNA:mutations:cds:c.457G>A(p.E53K),c.641G>A(p.R214H),c.1316delT(p.V439Vfs32)(human) RGD PMID:26371875 RGD:11098120 NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11087000 PMID:12746400 PMID:16718611 PMID:17431902 PMID:21520338 More... NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		JBrowse link
G Tgfa transforming growth factor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr 6:86,172,020...86,252,726
Ensembl chr 6:86,172,205...86,252,701 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27356075 NCBI chr12:86,103,517...86,125,815
Ensembl chr12:86,103,519...86,125,815 		JBrowse link
G Tmc1 transmembrane channel-like gene family 1 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness
ClinVar Annotator: match by term: Non-syndromic genetic deafness		 ClinVar PMID:18616530 PMID:19187973 PMID:21917145 PMID:24033266 PMID:24416283 More... NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566 		JBrowse link
G Tmprss3 transmembrane protease, serine 3 ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:11907649 PMID:12920079 PMID:21786053 PMID:24033266 PMID:24526180 More... NCBI chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951 		JBrowse link
G Triobp TRIO and F-actin binding protein ISO ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar PMID:24033266 NCBI chr15:78,831,924...78,890,069
Ensembl chr15:78,831,924...78,890,069 		JBrowse link
G Ush2a usherin ISO DNA:missense mutations, frameshift mutation, snp:cds, intron:multiple (human)
ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness		 ClinVar
RGD		 PMID:2525289 PMID:10729113 PMID:10909849 PMID:12525556 PMID:15823922 More... RGD:8548458 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO
IAGP		 ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness ClinVar
MouseDO		 PMID:16648378 PMID:17492394 PMID:18544103 PMID:20301750 PMID:21917145 More... NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		JBrowse link
Nonsyndromic Deafness, Modifier 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mettl13 methyltransferase 13, eEF1A lysine and N-terminal methyltransferase ISO ClinVar Annotator: match by term: DFNM1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:29408807 NCBI chr 1:162,359,694...162,376,098
Ensembl chr 1:162,359,696...162,376,120 		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 (otocadherin) ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:28492532 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr10:22,978,861...23,226,785
Ensembl chr10:22,978,862...23,226,684 		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 chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609 		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 chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637 		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 chr14:57,360,760...57,370,764
Ensembl chr14:57,360,760...57,371,068 		JBrowse link
G Myh14 myosin, heavy polypeptide 14 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:44,255,227...44,320,296
Ensembl chr 7:44,255,227...44,320,267 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle 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 chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chr10:127,539,306...127,556,809
Ensembl chr10:127,541,039...127,556,809 		JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,314...22,508,264 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:24033266 PMID:28492532 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:23804846 PMID:25741868 PMID:26226137 PMID:28492532 PMID:30029624 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) RGD PMID:23084290 RGD:11554169 NCBI chr11:29,080,236...29,112,010
Ensembl chr11:29,080,744...29,111,828 		JBrowse link
G Pou4f3 POU domain, class 4, transcription factor 3 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:28492532 NCBI chr18:42,527,662...42,529,158
Ensembl chr18:42,527,604...42,530,314 		JBrowse link
G Six1 sine oculis-related homeobox 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		JBrowse link
G Slc17a8 solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr10:89,409,882...89,457,111
Ensembl chr10:89,409,882...89,457,115 		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 5:22,013,999...22,070,602
Ensembl chr 5:22,015,653...22,070,602 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		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 chr19:24,071,860...24,202,492
Ensembl chr19:24,071,869...24,202,394 		JBrowse link
G Tmc1 transmembrane channel-like gene family 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:21252500 PMID:23208854 PMID:24033266 More... NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566 		JBrowse link
G Tmtc2 transmembrane and tetratricopeptide repeat containing 2 susceptibility ISO DNA:SNP:exon:rs35725509(human) RGD PMID:27311106 RGD:11252147 NCBI chr10:105,023,524...105,410,340
Ensembl chr10:105,023,524...105,410,312 		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 chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		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 chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		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 melanogenesis associated transcription factor IAGP OMIM:103470 MouseDO NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Albinism, ocular, with sensorineural deafness ClinVar PMID:25741868 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		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 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
Odontochondrodysplasia 2 with Hearing Loss and Diabetes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mia3 MIA SH3 domain ER export factor 3 ISO OMIM NCBI chr 1:183,107,091...183,151,091
Ensembl chr 1:183,107,682...183,150,894 		JBrowse link
Osteootohepatoenteric Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc45a unc-45 myosin chaperone A ISO ClinVar Annotator: match by term: Osteootohepatoenteric syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429573 PMID:31231135 PMID:35575086 NCBI chr 7:79,975,040...79,990,748
Ensembl chr 7:79,975,040...79,997,741 		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 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Insley-Astley syndrome | ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive
OMIM:215150
DNA:missense mutation:exon:p.G175R (human)		 OMIM
CTD
ClinVar
MouseDO
RGD		 PMID:7859284 PMID:9188673 PMID:9536098 PMID:10677296 PMID:15558753 More... RGD:12904710 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal recessive		 CTD
ClinVar		 PMID:16189708 PMID:25326635 PMID:25741868 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
palmoplantar keratoderma-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsg1a desmoglein 1 alpha ISO ClinVar Annotator: match by term: Hereditary palmoplantar keratoderma ClinVar PMID:25741868 NCBI chr18:20,443,982...20,476,407
Ensembl chr18:20,443,868...20,476,407 		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:missense 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 chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		JBrowse link
G mt-Co1 cytochrome c oxidase I, mitochondrial 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:5,328...6,872
Ensembl chr MT:5,328...6,872 		JBrowse link
G mt-Ts1 tRNA serine 1, mitochondrial 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:6,870...6,938
Ensembl chr MT:6,870...6,938 		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, integral membrane protein ISO ClinVar Annotator: match by term: Paragangliomas 1 with sensorineural hearing loss | ClinVar Annotator: match by term: Paragangliomas with sensorineural hearing loss ClinVar PMID:1945482 PMID:8981955 PMID:9536098 PMID:9683583 PMID:10323245 More... NCBI chr 9:50,507,640...50,515,149
Ensembl chr 9:50,507,657...50,515,112 		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 chr17:23,901,558...23,903,000
Ensembl chr17:23,901,558...23,903,000 		JBrowse link
G Diaph1 diaphanous related formin 1 ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr18:37,976,654...38,068,573
Ensembl chr18:37,976,654...38,068,529 		JBrowse link
G Foxi1 forkhead box I1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Goiter-deafness syndrome | ClinVar Annotator: match by term: Pendred syndrome
OMIM:274600		 CTD
ClinVar
MouseDO		 PMID:17503324 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr11:34,154,341...34,158,089
Ensembl chr11:34,154,338...34,158,089 		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 chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652 		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 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Otof otoferlin ISO ClinVar Annotator: match by term: Pendred syndrome ClinVar PMID:30311386 NCBI chr 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276 		JBrowse link
G Slc26a4 solute carrier family 26, member 4 ISO
IAGP
IMP		 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 chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		JBrowse link
Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh14 myosin, heavy polypeptide 14 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Peripheral neuropathy, myopathy, hoarseness, and hearing loss		 OMIM
CTD
ClinVar		 PMID:21480433 PMID:23806086 PMID:24033266 PMID:24088041 PMID:25741868 More... NCBI chr 7:44,255,227...44,320,296
Ensembl chr 7:44,255,227...44,320,267 		JBrowse link
Perrault syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit IAGP
ISO		 OMIM:233400 | OMIM:614129 | OMIM:614926 | OMIM:615300
ClinVar Annotator: match by term: Perrault syndrome		 MouseDO
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24824130 NCBI chr17:57,297,264...57,303,371
Ensembl chr17:57,297,305...57,303,188 		JBrowse link
G Eral1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:28449065 NCBI chr11:77,964,202...77,971,209
Ensembl chr11:77,964,202...77,971,209 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:517579 PMID:21464306 NCBI chr18:36,916,257...36,925,615
Ensembl chr18:36,916,061...36,925,615 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:4061497 PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 More... NCBI chr18:50,261,268...50,329,337
Ensembl chr18:50,261,268...50,329,336 		JBrowse link
G Lars2 leucyl-tRNA synthetase, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 9:123,196,001...123,291,731
Ensembl chr 9:123,195,992...123,291,731 		JBrowse link
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome ClinVar PMID:25355836 PMID:25741868 PMID:26206283 PMID:26467025 PMID:26970254 More... NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201 		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 chr17:57,297,264...57,303,371
Ensembl chr17:57,297,305...57,303,188 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:25741868 NCBI chr 2:125,142,514...125,348,417
Ensembl chr 2:125,142,514...125,349,913 		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 chr17:89,292,380...89,508,103
Ensembl chr17:89,292,380...89,508,103 		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 chr18:50,261,268...50,329,337
Ensembl chr18:50,261,268...50,329,336 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Perrault syndrome 1 ClinVar PMID:34715011 NCBI chr12:55,349,422...55,429,276
Ensembl chr12:55,346,362...55,429,318 		JBrowse link
Perrault Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hars2 histidyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Perrault syndrome 2 OMIM
ClinVar		 PMID:517579 PMID:21464306 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr18:36,916,257...36,925,615
Ensembl chr18:36,916,061...36,925,615 		JBrowse link
Perrault Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpp caseinolytic mitochondrial matrix peptidase proteolytic subunit ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Perrault syndrome 3		 OMIM
CTD
ClinVar		 PMID:17690910 PMID:21660509 PMID:22037954 PMID:23541340 PMID:24033266 More... NCBI chr17:57,297,264...57,303,371
Ensembl chr17:57,297,305...57,303,188 		JBrowse link
Perrault Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lars2 leucyl-tRNA synthetase, mitochondrial ISO ClinVar Annotator: match by term: Perrault syndrome 4 OMIM
ClinVar		 PMID:23541342 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26537577 More... NCBI chr 9:123,196,001...123,291,731
Ensembl chr 9:123,195,992...123,291,731 		JBrowse link
Perrault Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twnk twinkle mtDNA helicase ISO ClinVar Annotator: match by term: Perrault syndrome 5 OMIM
ClinVar		 PMID:25355836 PMID:25741868 PMID:27551684 PMID:27650058 PMID:28178980 More... NCBI chr19:44,994,102...45,001,203
Ensembl chr19:44,994,102...45,001,201 		JBrowse link
Perrault syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eral1 Era like 12S mitochondrial rRNA chaperone 1 ISO ClinVar Annotator: match by term: Perrault syndrome 6 OMIM
ClinVar		 PMID:25741868 PMID:28449065 NCBI chr11:77,964,202...77,971,209
Ensembl chr11:77,964,202...77,971,209 		JBrowse link
Pigmentary Retinopathy and Sensorineural Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Th tRNA histidine, mitochondrial ISO ClinVar Annotator: match by term: Pigmentary retinopathy and sensorineural deafness ClinVar PMID:12682337 NCBI chr MT:11,546...11,612
Ensembl chr MT:11,546...11,612 		JBrowse link
Presbycusis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg1 actin, gamma, cytoplasmic 1 ISO GAD PMID:15118671 RGD:1331525 NCBI chr11:120,236,513...120,239,321
Ensembl chr11:120,236,516...120,239,368 		JBrowse link
G Aqp4 aquaporin 4 severity IEP RGD PMID:19070604 RGD:8695953 NCBI chr18:15,522,451...15,544,039
Ensembl chr18:15,522,553...15,544,039 		JBrowse link
G Bdnf brain derived neurotrophic factor ISO mRNA:decreased expression:cochlea RGD PMID:17168119 RGD:8655551 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit IEP mRNA, protein:decreased expression:cochlea RGD PMID:23470431 RGD:10045570 NCBI chr14:29,761,898...30,213,113
Ensembl chr14:29,761,896...30,213,412 		JBrowse link
G Cat catalase IEP RGD PMID:11678164 RGD:8655636 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) no_association IAGP
ISO		 DNA:SNP:intron:g.72996763C>T (rs7087735) (human) RGD PMID:12910270 PMID:22581638 RGD:737781, RGD:8662287 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Edn1 endothelin 1 susceptibility ISO DNA:missense mutation:cds:p.L198N (rs5370) (human) RGD PMID:19358249 RGD:8661662 NCBI chr13:42,454,952...42,461,466
Ensembl chr13:42,454,952...42,461,466 		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 3:107,919,566...107,925,289
Ensembl chr 3:107,919,571...107,925,289 		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 chr10:75,619,647...75,634,418
Ensembl chr10:75,619,647...75,634,418 		JBrowse link
G Hspb1 heat shock protein 1 IEP RGD PMID:24587312 RGD:10402574 NCBI chr 5:135,916,773...135,918,417
Ensembl chr 5:135,916,773...135,918,417 		JBrowse link
G Il1r2 interleukin 1 receptor, type II IDA RGD PMID:22652460 RGD:8662870 NCBI chr 1:40,123,872...40,164,390
Ensembl chr 1:40,113,239...40,164,391 		JBrowse link
G Nat2 N-acetyltransferase 2 (arylamine N-acetyltransferase) susceptibility ISO DNA:polymorphism: : RGD PMID:16369173 RGD:8552649 NCBI chr 8:67,947,527...67,955,296
Ensembl chr 8:67,947,510...67,955,236 		JBrowse link
G Polg polymerase (DNA directed), gamma IMP RGD PMID:21664445 RGD:8694161 NCBI chr 7:79,095,979...79,117,659
Ensembl chr 7:79,095,979...79,116,110 		JBrowse link
G Sirt3 sirtuin 3 ISO protein:decreased expression:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chr 7:140,443,576...140,462,222
Ensembl chr 7:140,443,579...140,462,222 		JBrowse link
G Slc26a5 solute carrier family 26, member 5 ISO protein:altered expression:cochlear outer hair cell (rat) RGD PMID:19111601 RGD:9585690 NCBI chr 5:22,013,999...22,070,602
Ensembl chr 5:22,015,653...22,070,602 		JBrowse link
G Sod1 superoxide dismutase 1, soluble severity IEP
IMP		 mRNA:increased expression:cochlea (mouse) RGD PMID:11678164 PMID:10464373 RGD:8655636, RGD:8655665 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO protein:decreased expression,decreased activity:auditory cortex: RGD PMID:24505357 RGD:8158103 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		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 chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536 		JBrowse link
G Tyr tyrosinase treatment
onset		 IMP associated with Albinism; RGD PMID:19843244 PMID:19141317 RGD:8694324, RGD:8694327 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
retinitis pigmentosa-deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:12075507 PMID:16963483 PMID:18429043 PMID:19683999 PMID:21174530 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G mt-Ts2 tRNA serine 2, mitochondrial ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:9792552 PMID:10090882 PMID:32906214 NCBI chr MT:11,613...11,671
Ensembl chr MT:11,613...11,671 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:24033266 PMID:28492532 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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 chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G Ush1c USH1 protein network component harmonin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
G Ush2a usherin ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar PMID:28492532 NCBI chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome ClinVar NCBI chr10:60,182,630...60,266,073
Ensembl chr10:60,182,630...60,208,463 		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 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		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 M2 B (TP53 inducible) 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 chr15:37,924,196...37,961,562
Ensembl chr15:37,924,196...37,961,562 		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 2:121,222,109...121,245,082
Ensembl chr 2:121,223,112...121,244,273 		JBrowse link
G Ckmt1 creatine kinase, mitochondrial 1, ubiquitous ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 2:121,188,257...121,194,218
Ensembl chr 2:121,188,195...121,194,218 		JBrowse link
G Pdia3 protein disulfide isomerase associated 3 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 2:121,244,383...121,269,168
Ensembl chr 2:121,244,256...121,269,168 		JBrowse link
G Ppip5k1 diphosphoinositol pentakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Deafness-infertility syndrome ClinVar PMID:25741868 NCBI chr 2:121,141,038...121,186,138
Ensembl chr 2:121,141,042...121,185,877 		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 2:121,193,729...121,211,851
Ensembl chr 2:121,194,209...121,217,649 		JBrowse link
Sensorineural Deafness and Migraine term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Tq tRNA glutamine, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural deafness and migraine ClinVar PMID:11424923 PMID:20700462 PMID:21526175 PMID:25741868 PMID:26467025 More... NCBI chr MT:3,772...3,842
Ensembl chr MT:3,772...3,842 		JBrowse link
Sensorineural Deafness with Hypertrophic Cardiomyopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Tk tRNA lysine, mitochondrial ISO ClinVar Annotator: match by term: Cardiomyopathy and Deafness ClinVar PMID:8651277 PMID:20301693 PMID:31965079 PMID:32906214 NCBI chr MT:7,700...7,764
Ensembl chr MT:7,700...7,764 		JBrowse link
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 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		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 beta subunit 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 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480 		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 chr 5:142,888,870...142,892,509
Ensembl chr 5:142,888,870...142,892,509 		JBrowse link
G Adprs ADP-ribosylserine hydrolase ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 4:126,210,144...126,215,496
Ensembl chr 4:126,209,840...126,215,496 		JBrowse link
G Afg3l2 AFG3-like AAA ATPase 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:32219868 NCBI chr18:67,537,830...67,582,277
Ensembl chr18:67,537,834...67,582,242 		JBrowse link
G Aifm1 apoptosis-inducing factor, mitochondrion-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:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:17454231 RGD:7771593 NCBI chr 7:19,430,169...19,434,326
Ensembl chr 7:19,430,034...19,433,113 		JBrowse link
G Atp1a1 ATPase, Na+/K+ transporting, alpha 1 polypeptide ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 3:101,483,535...101,512,023
Ensembl chr 3:101,483,535...101,512,000 		JBrowse link
G Atp1b1 ATPase, Na+/K+ transporting, beta 1 polypeptide ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 1:164,264,668...164,285,924
Ensembl chr 1:164,264,678...164,285,924 		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:72,729,784...72,761,464
Ensembl chr  X:72,729,784...72,759,781 		JBrowse link
G Bdnf brain derived neurotrophic factor IEP mRNA,protein:increased expression:inferior colliculus: RGD PMID:20598895 RGD:8655560 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Brf1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr12:112,919,251...112,964,327
Ensembl chr12:112,923,705...112,964,324 		JBrowse link
G Bsnd barttin CLCNK type accessory beta subunit ISO Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon RGD PMID:11687798 RGD:1600603 NCBI chr 4:106,340,653...106,349,440
Ensembl chr 4:106,340,653...106,349,480 		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 chr13:24,196,464...24,464,983
Ensembl chr13:24,196,327...24,464,778 		JBrowse link
G Cat catalase ISO RGD PMID:15109710 RGD:8547516 NCBI chr 2:103,284,249...103,315,498
Ensembl chr 2:103,284,194...103,315,505 		JBrowse link
G Cdc14a CDC14 cell division cycle 14A ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 3:116,066,202...116,222,390
Ensembl chr 3:116,066,202...116,222,394 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:22899989 PMID:25741868 PMID:25963016 PMID:28492532 PMID:30303587 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		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 chr19:15,933,134...15,962,396
Ensembl chr19:15,933,137...15,962,353 		JBrowse link
G Clcn3 chloride channel, voltage-sensitive 3 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 8:61,363,423...61,436,351
Ensembl chr 8:61,363,423...61,436,334 		JBrowse link
G Clcnka chloride channel, voltage-sensitive 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 4:141,111,922...141,126,017
Ensembl chr 4:141,111,921...141,126,035 		JBrowse link
G Cldn14 claudin 14 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr16:93,715,919...93,809,733
Ensembl chr16:93,715,919...93,809,696 		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 chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554 		JBrowse link
G Col11a1 collagen, type XI, alpha 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28492532 NCBI chr 3:113,823,933...114,014,405
Ensembl chr 3:113,824,189...114,014,367 		JBrowse link
G Col11a2 collagen, type XI, alpha 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural hearing loss disorder		 CTD
ClinVar		 PMID:16637051 PMID:25741868 NCBI chr17:34,257,462...34,285,659
Ensembl chr17:34,258,411...34,285,659 		JBrowse link
G Col2a1 collagen, type II, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16189708 NCBI chr15:97,873,483...97,902,525
Ensembl chr15:97,873,483...97,902,576 		JBrowse link
G Col9a1 collagen, type IX, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sensorineural hearing loss disorder		 CTD
ClinVar		 PMID:16909383 PMID:25741868 NCBI chr 1:24,216,670...24,291,819
Ensembl chr 1:24,216,691...24,291,765 		JBrowse link
G Col9a3 collagen, type IX, alpha 3 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:180,239,895...180,263,985
Ensembl chr 2:180,239,583...180,263,982 		JBrowse link
G Cox18 cytochrome c oxidase assembly protein 18 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 5:90,362,583...90,371,828
Ensembl chr 5:90,362,583...90,371,860 		JBrowse link
G Dbh dopamine beta hydroxylase ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 2:27,055,519...27,073,216
Ensembl chr 2:27,055,245...27,073,212 		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 chr18:37,976,654...38,068,573
Ensembl chr18:37,976,654...38,068,529 		JBrowse link
G Dpt dermatopontin ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 1:164,624,232...164,651,843
Ensembl chr 1:164,624,213...164,651,835 		JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 2:174,602,412...174,625,835
Ensembl chr 2:174,602,412...174,625,835 		JBrowse link
G Ednrb endothelin receptor type B ISO DNA:mutation:cds: RGD PMID:21915282 RGD:6480217 NCBI chr14:104,052,055...104,081,764
Ensembl chr14:104,052,061...104,081,838 		JBrowse link
G Ercc6 excision repair cross-complementing rodent repair deficiency, complementation group 6 IMP RGD PMID:25762674 RGD:11567237 NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947 		JBrowse link
G Ercc8 excision repaiross-complementing rodent repair deficiency, complementation group 8 IMP associated with Cockayne Syndrome RGD PMID:25762674 RGD:11567237 NCBI chr13:108,295,246...108,337,738
Ensembl chr13:108,295,265...108,331,898 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO DNA:deletion:introns, exon (human) RGD PMID:15735644 RGD:1598455 NCBI chr10:22,978,861...23,226,785
Ensembl chr10:22,978,862...23,226,684 		JBrowse link
G F2 coagulation factor II 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 2:91,442,742...91,466,799
Ensembl chr 2:91,455,665...91,466,759 		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 chr 1:163,979,396...164,048,539
Ensembl chr 1:163,979,407...164,047,846 		JBrowse link
G Fadd Fas associated via death domain ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17656375 NCBI chr 7:144,392,349...144,397,085
Ensembl chr 7:144,391,820...144,398,173 		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 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079 		JBrowse link
G Foxp4 forkhead box P4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr17:48,178,058...48,235,401
Ensembl chr17:48,178,058...48,235,570 		JBrowse link
G Gab1 growth factor receptor bound protein 2-associated protein 1 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr 8:81,491,060...81,607,151
Ensembl chr 8:81,491,067...81,607,148 		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 chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757 		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 4:33,057,715...33,095,865
Ensembl chr 4:33,062,999...33,095,865 		JBrowse link
G Gas2 growth arrest specific 2 IAGP MouseDO NCBI chr 7:51,511,560...51,644,753
Ensembl chr 7:51,511,763...51,644,723 		JBrowse link
G Gata3 GATA binding protein 3 ISO HDR Syndrome/Barakat Syndrome, OMIM:146255 RGD PMID:10935639 RGD:1358706 NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845 		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 chr10:58,091,240...58,141,421
Ensembl chr10:58,091,319...58,141,421 		JBrowse link
G Ggps1 geranylgeranyl diphosphate synthase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:32403198 NCBI chr13:14,224,375...14,238,319
Ensembl chr13:14,225,244...14,238,073 		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 chr10:81,171,096...81,179,452
Ensembl chr10:81,171,099...81,179,100 		JBrowse link
G Gjb2 gap junction protein, beta 2 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 chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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 4:127,219,028...127,224,633
Ensembl chr 4:127,219,028...127,224,637 		JBrowse link
G Gjc3 gap junction protein, gamma 3 IMP RGD PMID:16481432 RGD:1578421 NCBI chr 5:137,949,254...137,961,360
Ensembl chr 5:137,951,723...137,961,360 		JBrowse link
G Gpsm2 G-protein signalling modulator 2 (AGS3-like, C. elegans) 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 3:108,585,954...108,629,637
Ensembl chr 3:108,585,954...108,629,625 		JBrowse link
G Grhl2 grainyhead like transcription factor 2 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr15:37,233,065...37,363,813
Ensembl chr15:37,233,280...37,363,813 		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 6:50,167,013...50,240,837
Ensembl chr 6:50,165,868...50,240,842 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta susceptibility ISO DNA:polymorphism: :DRB1*0301(human) RGD PMID:8712634 RGD:7365101 NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G H2-M2 histocompatibility 2, M region locus 2 ISO associated with Behcet Syndrome; DNA:polymorphism:cds:HLA-B51 (human) RGD PMID:15855027 RGD:7364915 NCBI chr17:37,791,742...37,794,445
Ensembl chr17:37,791,742...37,794,443 		JBrowse link
G H2-Q4 histocompatibility 2, Q region locus 4 ISO Unilateral Childhood Sensorineural Hearing Loss; DNA:polymorphisms:cds:HLA-Bw54 (human) RGD PMID:2909230 RGD:7365120 NCBI chr17:35,598,593...35,603,650
Ensembl chr17:35,598,593...35,604,266 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:31827252 NCBI chr18:36,916,257...36,925,615
Ensembl chr18:36,916,061...36,925,615 		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 chr10:118,276,951...118,281,799
Ensembl chr10:118,276,951...118,281,797 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:9693304 RGD:8662926 NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108 		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 chr16:36,514,340...36,547,166
Ensembl chr16:36,514,340...36,547,166 		JBrowse link
G Irx5 Iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 8:93,084,424...93,088,084
Ensembl chr 8:93,084,253...93,102,914 		JBrowse link
G Itga2 integrin alpha 2 ISO DNA:snp:cds:c.807C>T (rs1126643) (human) RGD PMID:22948415 RGD:8686432 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		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 chr 8:112,720,071...112,737,986
Ensembl chr 8:112,720,075...112,737,955 		JBrowse link
G Kcnj10 potassium inwardly-rectifying channel, subfamily J, member 10 ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652 		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 4:120,553,331...120,605,809
Ensembl chr 4:120,553,335...120,605,809 		JBrowse link
G Kl klotho IMP RGD PMID:21167925 RGD:10403058 NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282 		JBrowse link
G Lars1 leucyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr18:42,335,363...42,395,302
Ensembl chr18:42,335,363...42,395,259 		JBrowse link
G Lmx1a LIM homeobox transcription factor 1 alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:29971487 NCBI chr 1:167,515,864...167,676,310
Ensembl chr 1:167,516,806...167,676,310 		JBrowse link
G Lrp2 low density lipoprotein receptor-related protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632512 NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409 		JBrowse link
G Mbl2 mannose-binding lectin (protein C) 2 susceptibility ISO DNA:SNP:cds: RGD PMID:23246423 RGD:8693695 NCBI chr19:30,210,306...30,217,087
Ensembl chr19:30,210,342...30,217,087 		JBrowse link
G Mitf melanogenesis associated 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 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
G Mrps7 mitchondrial ribosomal protein S7 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 NCBI chr11:115,494,966...115,498,862
Ensembl chr11:115,494,751...115,498,862 		JBrowse link
G mt-Cytb cytochrome b, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:28027978 NCBI chr MT:14,145...15,288
Ensembl chr MT:14,145...15,288 		JBrowse link
G mt-Tl1 tRNA leucine 1, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:1284550 PMID:1315123 PMID:1323207 PMID:1360090 PMID:1454794 More... NCBI chr MT:2,676...2,750
Ensembl chr MT:2,676...2,750 		JBrowse link
G Myh14 myosin, heavy polypeptide 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 7:44,255,227...44,320,296
Ensembl chr 7:44,255,227...44,320,267 		JBrowse link
G Myh9 myosin, heavy polypeptide 9, non-muscle disease_progression ISO associated with MYH9-Related Disorders;DNA:mutations:cds: RGD PMID:26226608 RGD:11533922 NCBI chr15:77,644,788...77,726,315
Ensembl chr15:77,644,787...77,726,375 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:9536098 PMID:17546645 PMID:17576681 PMID:24033266 PMID:24875298 More... NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195 		JBrowse link
G Myo1a myosin IA ISO DFNA48, OMIM:607841 RGD PMID:12736868 RGD:1600218 NCBI chr10:127,539,306...127,556,809
Ensembl chr10:127,541,039...127,556,809 		JBrowse link
G Myo1f myosin IF ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar NCBI chr17:33,774,681...33,826,738
Ensembl chr17:33,774,681...33,826,738 		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 chr 2:22,232,360...22,508,693
Ensembl chr 2:22,232,314...22,508,264 		JBrowse link
G Myo6 myosin VI ISO DFNA22, OMIM:606346, DNA:point mutation:exon:C442Y RGD PMID:11468689 RGD:1600556 NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011 		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 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2 (mitochondrial)(putative) ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 7:96,600,698...96,725,606
Ensembl chr 7:96,600,712...96,713,965 		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 2:165,834,557...165,915,162
Ensembl chr 2:165,834,556...165,915,162 		JBrowse link
G Nefl neurofilament, light polypeptide ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:12477167 PMID:12566280 PMID:19158810 PMID:20301384 PMID:21840889 More... NCBI chr14:68,321,312...68,326,544
Ensembl chr14:68,321,312...68,326,544 		JBrowse link
G Ngf nerve growth factor ISO protein:decreased expression:serum: RGD PMID:14587217 RGD:8655553 NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329 		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 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276 		JBrowse link
G P2rx2 purinergic receptor P2X, ligand-gated ion channel, 2 ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:19461658 PMID:28492532 PMID:30311386 PMID:34652575 NCBI chr 5:110,487,678...110,491,186
Ensembl chr 5:110,487,678...110,491,078 		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 chr17:47,022,402...47,036,469
Ensembl chr17:47,022,389...47,036,467 		JBrowse link
G Phex phosphate regulating endopeptidase homolog, X-linked IAGP DNA:mutations:cds: RGD PMID:15029877 RGD:11556244 NCBI chr  X:155,945,071...156,198,282
Ensembl chr  X:155,945,071...156,198,308 		JBrowse link
G Phf7 PHD finger protein 7 ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr14:30,959,646...30,973,327
Ensembl chr14:30,959,646...30,973,274 		JBrowse link
G Pls1 plastin 1 (I-isoform) ISO ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment ClinVar PMID:31397523 NCBI chr 9:95,634,695...95,727,359
Ensembl chr 9:95,634,695...95,727,364 		JBrowse link
G Plscr4 phospholipid scramblase 4 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 9:92,339,431...92,374,509
Ensembl chr 9:92,339,426...92,374,509 		JBrowse link
G Pou4f3 POU domain, class 4, transcription factor 3 ISO ClinVar Annotator: match by term: Congenital sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr18:42,527,662...42,529,158
Ensembl chr18:42,527,604...42,530,314 		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:7,523,616...7,535,086
Ensembl chr  X:7,523,499...7,534,425 		JBrowse link
G Prkcb protein kinase C, beta ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27329761 NCBI chr 7:121,888,327...122,233,625
Ensembl chr 7:121,887,974...122,233,625 		JBrowse link
G Ptgds prostaglandin D2 synthase (brain) ISO protein:decreased expression:cochlea: RGD PMID:23827367 RGD:7349365 NCBI chr 2:25,356,723...25,360,080
Ensembl chr 2:25,356,721...25,360,058 		JBrowse link
G Ptprq protein tyrosine phosphatase receptor type Q ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr10:107,350,224...107,555,939
Ensembl chr10:107,352,910...107,555,912 		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:47,602,540...47,619,112
Ensembl chr  X:47,608,162...47,619,109 		JBrowse link
G Rrm2b ribonucleotide reductase M2 B (TP53 inducible) ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:8279480 PMID:25741868 PMID:28492532 PMID:32827185 NCBI chr15:37,924,196...37,961,562
Ensembl chr15:37,924,196...37,961,562 		JBrowse link
G Scp2 sterol carrier protein 2, liver ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 PMID:28492532 PMID:33713422 NCBI chr 4:107,901,027...108,002,168
Ensembl chr 4:107,901,036...108,002,195 		JBrowse link
G Sema3d sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:27876815 NCBI chr 5:12,433,133...12,638,920
Ensembl chr 5:12,433,352...12,638,915 		JBrowse link
G Slc12a2 solute carrier family 12, member 2 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 chr18:58,011,505...58,079,893
Ensembl chr18:58,011,750...58,079,893 		JBrowse link
G Slc25a4 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), 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 chr 8:46,660,205...46,664,099
Ensembl chr 8:46,659,834...46,664,321 		JBrowse link
G Slc26a4 solute carrier family 26, member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15279074 PMID:16053392 PMID:17322586 NCBI chr12:31,569,813...31,610,054
Ensembl chr12:31,569,826...31,609,968 		JBrowse link
G Slc26a5 solute carrier family 26, member 5 IEP mRNA:decreased expression:organ of Corti (mouse) RGD PMID:19363478 RGD:9585667 NCBI chr 5:22,013,999...22,070,602
Ensembl chr 5:22,015,653...22,070,602 		JBrowse link
G Slc52a2 solute carrier protein 52, member 2 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr15:76,422,994...76,432,078
Ensembl chr15:76,423,032...76,428,808 		JBrowse link
G Slc7a14 solute carrier family 7 (cationic amino acid transporter, y+ system), member 14 IAGP MouseDO NCBI chr 3:31,257,003...31,364,712
Ensembl chr 3:31,257,007...31,364,527 		JBrowse link
G Slc7a8 solute carrier family 7 (cationic amino acid transporter, y+ system), member 8 IAGP OMIM:304400 MouseDO NCBI chr14:54,959,672...55,019,343
Ensembl chr14:54,959,666...55,019,403 		JBrowse link
G Slitrk6 SLIT and NTRK-like family, member 6 IAGP OMIM:304400 MouseDO NCBI chr14:110,984,770...110,992,640
Ensembl chr14:110,986,012...110,992,581 		JBrowse link
G Sod2 superoxide dismutase 2, mitochondrial ISO protein:increased activity:cochlea: RGD PMID:15109710 RGD:8547516 NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950 		JBrowse link
G Sox3 SRY (sex determining region Y)-box 3 ISO ClinVar Annotator: match by term: sensorineural hearing loss disorder ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:59,934,972...59,937,045
Ensembl chr  X:59,934,972...59,937,036 		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 chr11:72,342,464...72,380,797
Ensembl chr11:72,342,464...72,380,730 		JBrowse link
G Src Rous sarcoma oncogene treatment ISO RGD PMID:24472721 RGD:11554193 NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782 		JBrowse link
G Strc stereocilin ISO RGD PMID:11687802 RGD:1599186 NCBI chr 2:121,193,729...121,211,851
Ensembl chr 2:121,194,209...121,217,649 		JBrowse link
G Stx4a syntaxin 4A (placental) ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:30311386 PMID:36355422 NCBI chr 7:127,439,832...127,450,160
Ensembl chr 7:127,423,466...127,448,191 		JBrowse link
G Tbx1 T-box 1 ISO DNA:frameshift mutation:CDS:p.G387AfsX73 (human) RGD PMID:32110744 RGD:155641234 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G Tcf19 transcription factor 19 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr17:35,823,627...35,827,730
Ensembl chr17:35,823,631...35,827,721 		JBrowse link
G Tecta tectorin alpha ISO autosomal recessive sensorineural nonsyndromic deafness DFNB21, OMIM:603629
ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder
autosomal dominant nonsyndromic sensorineural deafness DFNA12, OMIM:601842 and DFNA8, OMIM:601543 		ClinVar
RGD		 PMID:20947814 PMID:21520338 PMID:21917145 PMID:22718023 PMID:24033266 More... RGD:1599381, RGD:1599380 NCBI chr 9:42,240,918...42,312,986
Ensembl chr 9:42,240,915...42,311,225 		JBrowse link
G Tenm1 teneurin transmembrane protein 1 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr  X:41,616,743...42,518,045
Ensembl chr  X:41,616,743...42,518,003 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr10:71,061,298...71,074,157
Ensembl chr10:71,061,294...71,074,110 		JBrowse link
G Tmc1 transmembrane channel-like gene family 1 ISO DFNA36, OMIM:606705, DFNB7, OMIM:600974
ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment		 ClinVar
RGD		 PMID:11850618 RGD:1599440 NCBI chr19:20,760,820...20,931,566
Ensembl chr19:20,760,822...20,931,566 		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 chr 1:167,136,239...167,161,547
Ensembl chr 1:167,135,947...167,161,547 		JBrowse link
G Tmie transmembrane inner ear ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:8593615 PMID:12145746 PMID:19438934 PMID:25741868 PMID:30303587 More... NCBI chr 9:110,694,755...110,709,141
Ensembl chr 9:110,694,779...110,709,181 		JBrowse link
G Tmprss3 transmembrane protease, serine 3 ISO DFNB10, OMIM:605316, DFNB8 OMIM:601072 RGD PMID:11137999 RGD:1599443 NCBI chr17:31,398,237...31,419,478
Ensembl chr17:31,398,239...31,417,951 		JBrowse link
G Tnc tenascin C ISO ClinVar Annotator: match by term: Progressive sensorineural hearing impairment ClinVar PMID:25741868 NCBI chr 4:63,878,022...63,965,554
Ensembl chr 4:63,878,022...63,965,252 		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 chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
G Top1mt DNA topoisomerase 1, mitochondrial ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr15:75,528,878...75,551,184
Ensembl chr15:75,528,884...75,550,649 		JBrowse link
G Top3a topoisomerase (DNA) III alpha ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr11:60,629,014...60,668,099
Ensembl chr11:60,630,884...60,668,191 		JBrowse link
G Ush1c USH1 protein network component harmonin susceptibility ISO
IMP		 DNA:splice-site mutation, frameshift mutation RGD PMID:10973247 PMID:20211154 RGD:1600453, RGD:8695932 NCBI chr 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
G Usp31 ubiquitin specific peptidase 31 ISO ClinVar Annotator: match by term: Sensorineural hearing loss disorder ClinVar PMID:25741868 NCBI chr 7:121,241,244...121,306,683
Ensembl chr 7:121,241,244...121,306,476 		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 chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		JBrowse link
G Whrn whirlin IDA RGD PMID:12833159 RGD:1580603 NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		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 chr17:23,819,800...23,829,993
Ensembl chr17:23,819,830...23,829,993 		JBrowse link
short stature, hearing loss, retinitis pigmentosa, and distinctive facies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Exosc2 exosome component 2 ISO ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies OMIM
ClinVar		 PMID:14647208 PMID:15060126 PMID:24447024 PMID:25741868 PMID:25741909 More... NCBI chr 2:31,560,727...31,571,593
Ensembl chr 2:31,560,727...31,571,361 		JBrowse link
Siddiqi syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fitm2 fat storage-inducing transmembrane protein 2 ISO ClinVar Annotator: match by term: Siddiqi syndrome OMIM
ClinVar		 PMID:25741868 PMID:28067622 PMID:30214770 PMID:30288795 NCBI chr 2:163,310,623...163,314,549
Ensembl chr 2:163,308,299...163,314,549 		JBrowse link
Sinoatrial Node Dysfunction and Deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1d calcium channel, voltage-dependent, L type, alpha 1D subunit ISO ClinVar Annotator: match by term: Sinoatrial node dysfunction and deafness OMIM
ClinVar		 PMID:21131953 PMID:24033266 PMID:25741868 PMID:25741905 PMID:26467025 More... NCBI chr14:29,761,898...30,213,113
Ensembl chr14:29,761,896...30,213,412 		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 6:6,877,801...6,882,068
Ensembl chr 6:6,877,805...6,882,085 		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 4:149,552,026...149,569,667
Ensembl chr 4:149,552,029...149,569,659 		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 chr11:54,793,680...54,801,213
Ensembl chr11:54,793,279...54,801,203 		JBrowse link
G H2-Aa histocompatibility 2, class II antigen A, alpha treatment ISO DNA:polymorphism: : HLA-DQA1*01 RGD PMID:11493203 RGD:8547564 NCBI chr17:34,501,718...34,506,797
Ensembl chr17:34,501,718...34,506,797 		JBrowse link
G H2-Eb1 histocompatibility 2, class II antigen E beta 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 chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648 		JBrowse link
G Hspa1a heat shock protein 1A ISO DNA:SNP, haplotype: :rs1043618 (human) RGD PMID:22922572 RGD:8662465 NCBI chr17:35,188,335...35,191,132
Ensembl chr17:35,188,166...35,191,132 		JBrowse link
G Hspa1b heat shock protein 1B ISO DNA:SNP, haplotype: :rs2763979 (human) RGD PMID:22922572 RGD:8662465 NCBI chr17:35,175,405...35,178,214
Ensembl chr17:35,175,412...35,178,214 		JBrowse link
G Hspa1l heat shock protein 1-like ISO DNA:SNP, haplotype: :rs2075800 (human) RGD PMID:22922572 RGD:8662465 NCBI chr17:35,191,679...35,198,204
Ensembl chr17:35,191,679...35,198,261 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO RGD PMID:21108784 RGD:8548824 NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904 		JBrowse link
G Il4ra interleukin 4 receptor, alpha ISO DNA:SNP: :p.Q576R (rs 180275) (human) RGD PMID:16280132 RGD:7829784 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		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 5:30,218,112...30,224,973
Ensembl chr 5:30,218,112...30,224,979 		JBrowse link
G Itga2 integrin alpha 2 susceptibility ISO DNA:SNP: :807C>T (human) RGD PMID:16525573 RGD:1582302 NCBI chr13:114,969,617...115,068,588
Ensembl chr13:114,969,617...115,068,636 		JBrowse link
G Lta lymphotoxin A ISO DNA:polymorphism:intron:252A>G (human) RGD PMID:19833626 RGD:8548795 NCBI chr17:35,422,141...35,424,568
Ensembl chr17:35,422,141...35,424,327 		JBrowse link
G Mmp1a matrix metallopeptidase 1a (interstitial collagenase) ISO DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) RGD PMID:21154774 RGD:8549733 NCBI chr 9:7,464,141...7,476,870
Ensembl chr 9:7,464,141...7,476,857 		JBrowse link
G Mmp1b matrix metallopeptidase 1b (interstitial collagenase) ISO DNA:insertion, SNP, haplotypes:promoter:-1607_-1606insG (rs1799750), -519A>G (human) RGD PMID:21154774 RGD:8549733 NCBI chr 9:7,367,670...7,388,026
Ensembl chr 9:7,368,239...7,388,047 		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 4:148,123,534...148,144,019
Ensembl chr 4:148,123,534...148,144,008 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase susceptibility ISO DNA:SNP::2756A>G(human) RGD PMID:16778415 RGD:8694081 NCBI chr13:12,196,217...12,273,090
Ensembl chr13:12,197,598...12,272,999 		JBrowse link
G Nos3 nitric oxide synthase 3, endothelial cell ISO DNA:snp:cds:p.E298D (rs1799983) (human) RGD PMID:23560644 RGD:7771541 NCBI chr 5:24,569,772...24,589,472
Ensembl chr 5:24,569,808...24,589,472 		JBrowse link
G Serpine1 serine (or cysteine) peptidase inhibitor, clade E, member 1 susceptibility ISO DNA:deletion, haplotype:promoter:g.-676_-674delG (human) RGD PMID:22672326 RGD:8547731 NCBI chr 5:137,090,358...137,101,126
Ensembl chr 5:137,090,358...137,101,122 		JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:serum: RGD PMID:11189185 RGD:7394753 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		JBrowse link
temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chsy1 chondroitin sulfate synthase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome		 OMIM
CTD
ClinVar		 PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr 7:65,759,240...65,823,546
Ensembl chr 7:65,759,263...65,823,546 		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 (thiamine transporter), member 2 ISO
IAGP		 ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia
CTD Direct Evidence: marker/mechanism
OMIM:249270		 OMIM
ClinVar
CTD
MouseDO		 PMID:9399900 PMID:9856490 PMID:10391221 PMID:10391222 PMID:10391223 More... NCBI chr 1:164,076,615...164,092,954
Ensembl chr 1:164,076,615...164,092,954 		JBrowse link
Tietz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mitf melanogenesis associated transcription factor susceptibility IAGP
ISO		 OMIM:103500
ClinVar Annotator: match by term: Tietz syndrome
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
OMIM
CTD		 PMID:2440678 PMID:8589691 PMID:8659547 PMID:9279758 PMID:9536098 More... NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310 		JBrowse link
Tinnitus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment ISO RGD PMID:17221143 RGD:9588534 NCBI chr16:8,331,293...8,439,432
Ensembl chr16:8,331,293...8,439,432 		JBrowse link
G Arc activity regulated cytoskeletal-associated protein ISO mRNA:decreased expression:auditory cortex: RGD PMID:18524887 RGD:8655535 NCBI chr15:74,540,930...74,544,419
Ensembl chr15:74,540,932...74,544,419 		JBrowse link
G Bdnf brain derived neurotrophic factor severity ISO mRNA:increased expression:cochlea: RGD PMID:18524887 PMID:22281446 RGD:8655535, RGD:8655556 NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352 		JBrowse link
G Grin2a glutamate receptor, ionotropic, NMDA2A (epsilon 1) ISO mRNA, protein:increased expression:Cochlear Nucleus RGD PMID:24092407 RGD:401940125 NCBI chr16:9,385,765...9,813,744
Ensembl chr16:9,385,762...9,813,424 		JBrowse link
G Il4ra interleukin 4 receptor, alpha ISO associated with Hearing Loss, Sudden;DNA:SNP: :p.Q576R (rs 180275) (human) RGD PMID:16280132 RGD:7829784 NCBI chr 7:125,151,443...125,178,646
Ensembl chr 7:125,151,292...125,178,646 		JBrowse link
G mt-Rnr1 12S rRNA, mitochondrial ISO CTD Direct Evidence: marker/mechanism CTD PMID:15141753 NCBI chr MT:70...1,024
Ensembl chr MT:70...1,024 		JBrowse link
G Tnf tumor necrosis factor ISO mRNA, protein:increased expression:Cochlear Nucleus RGD PMID:24092407 RGD:401940125 NCBI chr17:35,418,343...35,420,983
Ensembl chr17:35,418,357...35,420,983 		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 chr12:71,356,658...71,366,881
Ensembl chr12:71,356,658...71,366,881 		JBrowse link
G Sall1 spalt like transcription factor 1 ISO
IAGP		 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 chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790 		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 chr12:71,356,658...71,366,881
Ensembl chr12:71,356,658...71,366,881 		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 chr 8:89,753,867...89,770,790
Ensembl chr 8:89,753,863...89,770,790 		JBrowse link
Unilateral Deafness with Delayed Endolymphatic Hydrops term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Phex phosphate regulating endopeptidase homolog, X-linked IAGP DNA:mutation:cds: RGD PMID:18289812 RGD:11556245 NCBI chr  X:155,945,071...156,198,282
Ensembl chr  X:155,945,071...156,198,308 		JBrowse link
Unilateral Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col4a5 collagen, type IV, alpha 5 ISO ClinVar Annotator: match by term: Unilateral deafness ClinVar PMID:25741868 NCBI chr  X:140,258,367...140,472,232
Ensembl chr  X:140,258,381...140,472,230 		JBrowse link
G Nefh neurofilament, heavy polypeptide disease_progression ISO RGD PMID:27457532 RGD:27372873 NCBI chr11:4,888,754...4,898,064
Ensembl chr11:4,888,754...4,898,064 		JBrowse link
G Six1 sine oculis-related homeobox 1 ISO ClinVar Annotator: match by term: Unilateral deafness ClinVar NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661 		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 chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Arsg arylsulfatase G ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:29300381 NCBI chr11:109,364,159...109,464,156
Ensembl chr11:109,364,200...109,464,156 		JBrowse link
G Atp6v1b1 ATPase, H+ transporting, lysosomal V1 subunit B1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr 6:83,719,999...83,735,837
Ensembl chr 6:83,719,972...83,735,837 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656 		JBrowse link
G Bpnt1 3'(2'), 5'-bisphosphate nucleotidase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,061,619...185,089,974
Ensembl chr 1:185,064,346...185,089,974 		JBrowse link
G C130074G19Rik RIKEN cDNA C130074G19 gene ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,604,123...184,615,233
Ensembl chr 1:184,604,123...184,615,415 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr19:4,185,422...4,189,608
Ensembl chr19:4,185,422...4,194,032 		JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr11:119,119,328...119,156,074
Ensembl chr11:119,119,398...119,156,064 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) 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 chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Cep250 centrosomal protein 250 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24780881 PMID:25741868 NCBI chr 2:155,798,197...155,840,820
Ensembl chr 2:155,798,378...155,840,820 		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 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		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 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:30311386 NCBI chr12:51,640,156...51,652,558
Ensembl chr12:51,640,124...51,652,554 		JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570 		JBrowse link
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated ISO ClinVar Annotator: match by term: Hallgren syndrome ClinVar PMID:10508521 PMID:11389483 PMID:12700176 PMID:20956273 PMID:24512366 More... NCBI chr 1:139,101,288...139,307,262
Ensembl chr 1:139,124,794...139,304,838 		JBrowse link
G Crx cone-rod homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 7:15,599,872...15,613,880
Ensembl chr 7:15,599,872...15,613,893 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 5:108,794,910...108,808,696
Ensembl chr 5:108,794,559...108,817,538 		JBrowse link
G Dusp10 dual specificity phosphatase 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:183,766,575...183,807,833
Ensembl chr 1:183,745,499...183,807,833 		JBrowse link
G Eprs1 glutamyl-prolyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,093,614...185,160,557
Ensembl chr 1:185,095,241...185,160,557 		JBrowse link
G Esrrg estrogen-related receptor gamma ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:187,340,707...187,947,082
Ensembl chr 1:187,340,988...187,947,082 		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 6:38,511,796...38,516,384
Ensembl chr 6:38,510,437...38,516,384 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Dystrophia retinae pigmentosa-dysostosis syndrome | ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome		 ClinVar PMID:11138009 PMID:12075507 PMID:12522556 PMID:15537665 PMID:15660226 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Gpatch2 G patch domain containing 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,946,855...187,103,839
Ensembl chr 1:186,947,705...187,083,901 		JBrowse link
G Guca1a guanylate cyclase activator 1a (retina) ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:11146732 PMID:28492532 PMID:30718709 NCBI chr17:47,705,482...47,724,439
Ensembl chr17:47,705,483...47,711,509 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G Hdac6 histone deacetylase 6 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr  X:7,796,355...7,814,284
Ensembl chr  X:7,796,359...7,814,128 		JBrowse link
G Hhipl2 hedgehog interacting protein-like 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:183,195,395...183,217,962
Ensembl chr 1:183,199,147...183,217,717 		JBrowse link
G Hlx H2.0-like homeobox ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,459,340...184,464,690
Ensembl chr 1:184,459,337...184,464,816 		JBrowse link
G Iars2 isoleucine-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,018,839...185,061,615
Ensembl chr 1:185,016,923...185,061,593 		JBrowse link
G Luc7l2 LUC7-like 2 (S. cerevisiae) ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr 6:38,522,996...38,586,888
Ensembl chr 6:38,528,269...38,586,405 		JBrowse link
G Lyplal1 lysophospholipase-like 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,819,929...185,849,507
Ensembl chr 1:185,819,928...185,849,507 		JBrowse link
G Mark1 MAP/microtubule affinity regulating kinase 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,628,621...184,732,152
Ensembl chr 1:184,628,986...184,731,767 		JBrowse link
G Mir194-1 microRNA 194-1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,045,516...185,045,582
Ensembl chr 1:185,045,516...185,045,582 		JBrowse link
G Mir215 microRNA 215 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,045,778...185,045,889
Ensembl chr 1:185,045,778...185,045,889 		JBrowse link
G Mtarc1 mitochondrial amidoxime reducing component 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,518,964...184,543,622
Ensembl chr 1:184,518,964...184,543,394 		JBrowse link
G Mtarc2 mitochondrial amidoxime reducing component 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,545,263...184,579,266
Ensembl chr 1:184,545,265...184,578,648 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:3130723 PMID:7568224 PMID:7870171 PMID:8900236 PMID:9002678 More... RGD:8547536 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Otoa otoancorin ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:23173898 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:120,682,647...120,762,316
Ensembl chr 7:120,680,873...120,762,320 		JBrowse link
G Pax3 paired box 3 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771 		JBrowse link
G Pcdh15 protocadherin 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 chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Pde6a phosphodiesterase 6A, cGMP-specific, rod, alpha ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24265693 PMID:25182519 PMID:25741868 PMID:28492532 NCBI chr18:61,353,546...61,426,698
Ensembl chr18:61,353,387...61,422,995 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 5:44,150,963...44,260,850
Ensembl chr 5:44,150,962...44,259,374 		JBrowse link
G Prph2 peripherin 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:25741868 PMID:28492532 PMID:32531846 NCBI chr17:47,221,404...47,235,859
Ensembl chr17:47,221,385...47,235,859 		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 chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G Rab3gap2 RAB3 GTPase activating protein subunit 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956 		JBrowse link
G Rrp15 ribosomal RNA processing 15 homolog ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,453,283...186,481,555
Ensembl chr 1:186,453,175...186,481,555 		JBrowse link
G Serpinb6a serine (or cysteine) peptidase inhibitor, clade B, member 6a ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr13:34,101,901...34,186,777
Ensembl chr13:34,101,901...34,186,777 		JBrowse link
G Slc30a10 solute carrier family 30, member 10 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:185,187,045...185,200,959
Ensembl chr 1:185,187,045...185,200,959 		JBrowse link
G Snora36b small nucleolar RNA, H/ACA box 36B ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:184,975,123...184,975,235
Ensembl chr 1:184,975,104...184,975,235 		JBrowse link
G Spata17 spermatogenesis associated 17 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,741,811...186,947,705
Ensembl chr 1:186,776,845...186,947,662 		JBrowse link
G Taf1a TATA-box binding protein associated factor, RNA polymerase I, A ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:183,170,251...183,195,776
Ensembl chr 1:183,170,325...183,191,020 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:28041643 NCBI chr 1:186,354,984...186,441,504
Ensembl chr 1:186,354,989...186,438,186 		JBrowse link
G Ush1c USH1 protein network component harmonin treatment ISO
IMP		 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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Usher syndrome ClinVar
RGD		 PMID:24033266 PMID:25741868 PMID:28492532 PMID:20212494 RGD:8547536 NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		JBrowse link
G Ush2a usherin susceptibility ISO 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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		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 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		JBrowse link
G Zdhhc24 zinc finger, DHHC domain containing 24 ISO ClinVar Annotator: match by term: Usher syndrome ClinVar PMID:12118255 PMID:12524598 PMID:12677556 PMID:12837689 PMID:15314642 More... NCBI chr19:4,928,696...4,935,425
Ensembl chr19:4,928,696...4,935,425 		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 chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		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 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		JBrowse link
G Espn espin ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:29572253 NCBI chr 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828 		JBrowse link
G Gm17455 predicted gene, 17455 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11090341 PMID:11138009 PMID:12075507 PMID:12522556 More... NCBI chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Myo7a myosin VIIA ISO
IAGP		 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 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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 chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		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 chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		JBrowse link
Usher Syndrome Type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (otocadherin) 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 chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Gm17455 predicted gene, 17455 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 chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Myo7a myosin VIIA treatment ISO
IMP		 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 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome, type I, French variety
ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B		 ClinVar PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Psap prosaposin ISO ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome type 1B ClinVar PMID:18429043 PMID:23794683 PMID:24033266 PMID:24416283 PMID:25741868 More... NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		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
IAGP		 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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		JBrowse link
Usher syndrome type 1D term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 (otocadherin) ISO
IAGP		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID | ClinVar Annotator: match by term: Usher syndrome type 1D
CTD Direct Evidence: marker/mechanism
OMIM:601067		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:2289998 PMID:2706105 PMID:9536098 PMID:11090341 PMID:11138009 More... RGD:8662279 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Gm17455 predicted gene, 17455 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 chr10:60,235,643...60,239,338
Ensembl chr10:60,235,505...60,239,338 		JBrowse link
G Pcdh15 protocadherin 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 chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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 chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376 		JBrowse link
G Vsir V-set immunoregulatory receptor ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID ClinVar PMID:25741868 NCBI chr10:60,182,630...60,266,073
Ensembl chr10:60,182,630...60,208,463 		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 15 ISO
IAGP		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IF | ClinVar Annotator: match by term: Usher syndrome type 1F
CTD Direct Evidence: marker/mechanism
OMIM:602083		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:11398101 PMID:11487575 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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 15 ISO ClinVar Annotator: match by term: Usher syndrome type 1G ClinVar PMID:11398101 PMID:11487575 PMID:12588794 PMID:12711741 PMID:14570705 More... NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		JBrowse link
G Ush1g USH1 protein network component sans ISO
IAGP		 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:606943		 OMIM
CTD
ClinVar
MouseDO		 PMID:9536098 PMID:11941484 PMID:12588794 PMID:15660226 PMID:16283141 More... NCBI chr11:115,206,018...115,214,239
Ensembl chr11:115,206,018...115,212,867 		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 9:54,452,074...54,467,512
Ensembl chr 9:54,452,078...54,467,502 		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 4:152,204,788...152,236,871
Ensembl chr 4:152,204,788...152,236,828 		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 chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Usher syndrome type 2 ClinVar PMID:25741868 NCBI chr 7:97,700,261...97,768,730
Ensembl chr 7:97,700,267...97,768,731 		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 7:45,844,774...45,887,984
Ensembl chr 7:45,844,774...45,887,927 		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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		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 chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Cdh23 cadherin related 23 (otocadherin) ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:2706105 PMID:12075507 PMID:12522556 PMID:15353998 PMID:21940737 More... NCBI chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Kctd3 potassium channel tetramerisation domain containing 3 ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:21681106 NCBI chr 1:188,703,292...188,740,095
Ensembl chr 1:188,703,292...188,740,038 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Usher syndrome type 2A		 OMIM
CTD
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		JBrowse link
G Sftpc surfactant associated protein C ISO ClinVar Annotator: match by term: Usher syndrome type 2A ClinVar PMID:25741868 NCBI chr14:70,758,381...70,761,521
Ensembl chr14:70,758,389...70,761,521 		JBrowse link
G Ush2a usherin susceptibility ISO
IAGP		 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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		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
IAGP		 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
CTD Direct Evidence: marker/mechanism
OMIM:605472		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:10234513 PMID:14740321 PMID:15671307 PMID:16199547 More... NCBI chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		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 4:133,955,352...133,965,737
Ensembl chr 4:133,955,352...133,965,710 		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 1:65,110,684...65,112,691
Ensembl chr 1:65,110,684...65,112,848 		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 chr 5:96,518,622...96,932,592
Ensembl chr 5:96,521,814...96,932,587 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Usher syndrome type 2C | ClinVar Annotator: match by term: Usher syndrome, type IIC, GPR98/PDZD7 digenic		 OMIM
CTD
ClinVar		 PMID:20440071 PMID:24033266 PMID:25741868 PMID:26467025 PMID:26849169 More... NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		JBrowse link
G Slc4a7 solute carrier family 4, sodium bicarbonate cotransporter, member 7 IAGP OMIM:605472 MouseDO NCBI chr14:7,669,819...7,766,808
Ensembl chr14:7,669,823...7,767,484 		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 chr18:32,970,241...33,000,008
Ensembl chr18:32,970,278...33,000,647 		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
IAGP		 ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D
CTD Direct Evidence: marker/mechanism
OMIM:611383		 OMIM
ClinVar
CTD
MouseDO		 PMID:9536098 PMID:12833159 PMID:15841483 PMID:17171570 PMID:17576681 More... NCBI chr 4:63,333,145...63,414,320
Ensembl chr 4:63,333,147...63,414,228 		JBrowse link
Usher syndrome type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clrn1 clarin 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:7407589 PMID:9536098 PMID:11524702 PMID:12080385 PMID:12145752 More... NCBI chr 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		JBrowse link
G Hars1 histidyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Usher syndrome type 3 ClinVar PMID:28492532 NCBI chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		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
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: USHER SYNDROME, TYPE IIIA | ClinVar Annotator: match by term: Usher syndrome type 3A
OMIM:276902		 CTD
ClinVar
MouseDO
OMIM
RGD		 PMID:7407589 PMID:11524702 PMID:12080385 PMID:12145752 PMID:14569126 More... RGD:634439 NCBI chr 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761 		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 chr 1:187,995,035...188,697,694
Ensembl chr 1:187,994,220...188,697,238 		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 chr18:36,896,724...36,899,267
Ensembl chr18:36,896,724...36,899,267 		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 chr18:36,899,581...36,916,258
Ensembl chr18:36,899,581...36,916,258 		JBrowse link
G Hars2 histidyl-tRNA synthetase 2 ISO ClinVar Annotator: match by term: Usher syndrome type 3B ClinVar PMID:28492532 NCBI chr18:36,916,257...36,925,615
Ensembl chr18:36,916,061...36,925,615 		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 chr11:109,364,159...109,464,156
Ensembl chr11:109,364,200...109,464,156 		JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, 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 chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482 		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 chr13:81,243,187...81,781,504
Ensembl chr13:81,243,187...81,781,273 		JBrowse link
G Pdzd7 PDZ domain containing 7 ISO ClinVar Annotator: match by term: Usher syndrome, type 2B ClinVar PMID:20440071 PMID:24033266 PMID:25741868 PMID:26849169 PMID:28492532 More... NCBI chr19:45,015,346...45,048,273
Ensembl chr19:45,015,345...45,034,156 		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 (otocadherin) 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 chr10:60,138,527...60,532,291
Ensembl chr10:60,138,527...60,532,269 		JBrowse link
G Pcdh15 protocadherin 15 ISO ClinVar Annotator: match by term: USHER SYNDROME, TYPE ID/F, DIGENIC ClinVar PMID:15537665 PMID:15660226 PMID:24033266 NCBI chr10:72,932,003...74,485,663
Ensembl chr10:72,935,174...74,485,569 		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 yes-associated protein 1 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 9:7,932,000...8,004,890
Ensembl chr 9:7,932,000...8,004,597 		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
IMP		 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 chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		JBrowse link
Wittwer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:33,405,067...33,432,348
Ensembl chr 5:33,405,067...33,432,338 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:108,842,051...108,854,816
Ensembl chr 5:108,840,248...108,854,790 		JBrowse link
G Letm1 leucine zipper-EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:33,897,017...33,940,061
Ensembl chr 5:33,897,017...33,940,161 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar PMID:11252005 PMID:25741868 PMID:28492532 PMID:29760529 PMID:29892088 More... NCBI chr 5:33,974,286...34,055,310
Ensembl chr 5:33,978,069...34,055,319 		JBrowse link
G Nuf2 NUF2, NDC80 kinetochore complex component ISO ClinVar Annotator: match by term: Wittwer syndrome ClinVar NCBI chr 1:169,325,503...169,359,033
Ensembl chr 1:169,325,503...169,359,033 		JBrowse link
Wolfram syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G mt-Nd1 NADH dehydrogenase 1, mitochondrial ISO DNA:snp:cds:m.4216T>C (human) RGD PMID:9309689 RGD:5490247 NCBI chr MT:2,751...3,707
Ensembl chr MT:2,751...3,707 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Diabetes mellitus AND insipidus with optic atrophy AND deafness | ClinVar Annotator: match by term: Wolfram syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1161832 PMID:10521293 PMID:11244483 PMID:12754709 PMID:12955714 More... RGD:1599813 NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		JBrowse link
Wolfram syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wfs1 wolframin ER transmembrane glycoprotein IAGP
ISO		 OMIM:222300
ClinVar Annotator: match by term: WOLFRAM SYNDROME 1 | ClinVar Annotator: match by term: Wolfram syndrome 1		 MouseDO
ClinVar
OMIM		 PMID:1161832 PMID:3387915 PMID:8808601 PMID:9536098 PMID:9771706 More... NCBI chr 5:37,123,448...37,146,326
Ensembl chr 5:37,123,448...37,146,549 		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
IMP		 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 3:135,112,173...135,129,194
Ensembl chr 3:135,112,173...135,129,686 		JBrowse link
G Cisd3 CDGSH iron sulfur domain 3 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741909 NCBI chr11:97,576,291...97,579,451
Ensembl chr11:97,576,652...97,579,447 		JBrowse link
G Pcgf2 polycomb group ring finger 2 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:25741909 NCBI chr11:97,579,647...97,593,260
Ensembl chr11:97,579,649...97,591,323 		JBrowse link
G Slc9b1 solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 ISO ClinVar Annotator: match by term: Wolfram syndrome 2 ClinVar PMID:10739754 PMID:17846994 PMID:25056293 PMID:25741868 PMID:28492532 NCBI chr 3:135,053,754...135,103,588
Ensembl chr 3:135,053,790...135,103,588 		JBrowse link
X-linked Alport syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atg4a autophagy related 4A, cysteine peptidase ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:139,854,594...139,947,190
Ensembl chr  X:139,857,656...139,947,266 		JBrowse link
G Col4a4 collagen, type IV, alpha 4 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12028435 PMID:17396119 PMID:19129241 PMID:19675380 PMID:20029656 More... NCBI chr 1:82,426,140...82,564,570
Ensembl chr 1:82,426,144...82,564,570 		JBrowse link
G Col4a5 collagen, type IV, alpha 5 ISO
IAGP		 ClinVar Annotator: match by term: COL4A5-related condition | ClinVar Annotator: match by term: X-linked Alport syndrome
CTD Direct Evidence: marker/mechanism
OMIM:301050		 OMIM
ClinVar
CTD
MouseDO		 PMID:1330889 PMID:1352287 PMID:1363780 PMID:1376965 PMID:1577459 More... NCBI chr  X:140,258,367...140,472,232
Ensembl chr  X:140,258,381...140,472,230 		JBrowse link
G Col4a6 collagen, type IV, alpha 6 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar NCBI chr  X:139,948,399...140,257,091
Ensembl chr  X:139,948,399...140,257,072 		JBrowse link
G Fn1 fibronectin 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:71,624,632...71,692,439
Ensembl chr 1:71,624,679...71,692,359 		JBrowse link
G Msr1 macrophage scavenger receptor 1 ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:12244320 PMID:12958598 PMID:21791690 PMID:24082139 PMID:25333069 More... NCBI chr 8:39,996,284...40,095,790
Ensembl chr 8:40,034,726...40,095,714 		JBrowse link
G Zc3h12c zinc finger CCCH type containing 12C ISO ClinVar Annotator: match by term: X-linked Alport syndrome ClinVar PMID:25741868 NCBI chr 9:52,020,869...52,080,028
Ensembl chr 9:52,022,644...52,079,872 		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:139,357,352...139,376,889
Ensembl chr  X:139,357,362...139,376,889 		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 chr14:57,336,059...57,342,159
Ensembl chr14:57,336,057...57,342,159 		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 chr14:57,360,760...57,370,764
Ensembl chr14:57,360,760...57,371,068 		JBrowse link
G Pou3f4 POU domain, class 3, transcription factor 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:109,857,985...109,862,714
Ensembl chr  X:109,857,886...109,860,813 		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
IAGP		 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:300066		 OMIM
CTD
ClinVar
MouseDO		 PMID:8872482 PMID:21549336 PMID:21549342 PMID:22911656 PMID:25741868 More... NCBI chr  X:156,481,969...156,535,587
Ensembl chr  X:156,481,906...156,535,587 		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, mitochondrion-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:47,563,821...47,602,440
Ensembl chr  X:47,563,821...47,602,440 		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:47,602,540...47,619,112
Ensembl chr  X:47,608,162...47,619,109 		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 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:139,948,399...140,257,091
Ensembl chr  X:139,948,399...140,257,072 		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:134,739,786...134,745,480
Ensembl chr  X:134,739,783...134,745,479 		JBrowse link
X-linked mental retardation Gustavson type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rbmx RNA binding motif protein, X chromosome ISO ClinVar Annotator: match by term: Mental retardation Gustavson type, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:25741905 NCBI chr  X:56,428,708...56,438,405
Ensembl chr  X:56,428,890...56,438,396 		JBrowse link
X-linked mental retardation-hypotonic facies syndrome-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome | ClinVar Annotator: match by term: HOLMES-GANG SYNDROME | ClinVar Annotator: match by term: Intellectual disability-hypotonic facies syndrome, X-linked | ClinVar Annotator: match by term: Mental retardation-hypotonic facies syndrome X-linked, 1 | ClinVar Annotator: match by term: Smith Fineman Myers syndrome 1
CTD Direct Evidence: marker/mechanism
DNA:mutation:exon:c. 6740A>C (p.H224P)(human)
DNA:nonsense mutation:exon:324C>T (p.R37X) (human)
DNA:missense mutation:exon:c.3868G>A (p.R1272Q) (human)		 OMIM
ClinVar
CTD
RGD		 PMID:3239563 PMID:6682021 PMID:6711605 PMID:7697714 PMID:8630485 More... RGD:13442490, RGD:11040909, RGD:1599406 NCBI chr  X:104,841,221...104,972,978
Ensembl chr  X:104,841,221...104,973,009 		JBrowse link
G Epor erythropoietin receptor ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:8174675 PMID:9394420 PMID:25741868 PMID:28492532 NCBI chr 9:21,870,193...21,874,915
Ensembl chr 9:21,870,193...21,874,802 		JBrowse link
G Huwe1 HECT, UBA and WWE domain containing 1 ISO ClinVar Annotator: match by term: Carpenter-Waziri syndrome ClinVar PMID:25741868 NCBI chr  X:150,583,779...150,718,413
Ensembl chr  X:150,583,803...150,718,413 		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:156,481,969...156,535,587
Ensembl chr  X:156,481,906...156,535,587 		JBrowse link
X-linked retinitis pigmentosa and sinorespiratory infections term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rpgr retinitis pigmentosa GTPase regulator ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness		 OMIM
CTD
ClinVar		 PMID:1733835 PMID:8673101 PMID:10094550 PMID:14627685 PMID:16055928 More... NCBI chr  X:10,024,455...10,083,034
Ensembl chr  X:9,939,860...10,083,159 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      Hearing Disorders 815
        Familial Ossicular Malformations 0
        Hearing Loss + 810
        Hyperacusis 0
        Tinnitus + 7
Path 2
Term Annotations click to browse term
  disease 18301
    Pathological Conditions, Signs and Symptoms 12359
      Signs and Symptoms 10135
        Neurologic Manifestations 9790
          sensory system disease 6747
            Otorhinolaryngologic Diseases 1733
              auditory system disease 988
                Hearing Disorders 815
                  Familial Ossicular Malformations 0
                  Hearing Loss + 810
                  Hyperacusis 0
                  Tinnitus + 7
paths to the root