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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:Nonsyndromic Sensorineural Hearing Loss
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Accession:DOID:9007966 term browser browse the term
Synonyms:exact_synonym: NON-SYNDROMIC HEREDITARY HEARING IMPAIRMENT;   nonsyndromic hereditary hearing impairment
 narrow_synonym: Nonsyndromic hearing loss, dominant;   autosomal dominant nonsyndromic hereditary hearing impairment
 primary_id: MESH:C537845

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Nonsyndromic Sensorineural Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh23 cadherin related 23 ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:18429043 PMID:21228398 PMID:21569298 PMID:22135276 PMID:22995991 More... NCBI chrNW_004955437:19,683,792...20,044,718
Ensembl chrNW_004955437:19,684,473...20,003,819 		JBrowse link
G Coch cochlin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chrNW_004955409:29,639,274...29,650,389
Ensembl chrNW_004955409:29,639,274...29,650,874 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004955437:1,739,426...1,767,087
Ensembl chrNW_004955437:1,740,402...1,766,490 		JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chrNW_004955436:13,710,366...13,982,379
Ensembl chrNW_004955436:13,709,806...13,982,380 		JBrowse link
G Gja1 gap junction protein alpha 1 ISO DNA:mutations:cds:c.30C>T,c.71T>G(human) RGD PMID:11741837 RGD:1578475 NCBI chrNW_004955436:3,612,533...3,618,095
Ensembl chrNW_004955436:3,612,533...3,618,095 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:10376574 PMID:11102979 PMID:11216656 PMID:11313763 PMID:11493200 More... NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099 		JBrowse link
G Gjb3 gap junction protein beta 3 no_association ISO DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant		 RGD
ClinVar		 PMID:15276679 RGD:12050154 NCBI chrNW_004955452:12,892,687...12,896,290
Ensembl chrNW_004955452:12,892,687...12,896,290 		JBrowse link
G Gjb6 gap junction protein beta 6 no_association ISO DNA:mutations:multiple:
DNA:del:cds:del(GJB6-D13S1830)
DNA:del::GJB6-D13S1854(human)		 RGD PMID:20022641 PMID:21227513 PMID:22186156 PMID:23554706 PMID:23668481 RGD:7364803 RGD:7364812 RGD:7364817 RGD:7364891 RGD:7364892 NCBI chrNW_004955497:1,018,610...1,027,593
Ensembl chrNW_004955497:1,018,610...1,027,360 		JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955559:796,455...856,082
Ensembl chrNW_004955559:797,107...853,053 		JBrowse link
G Myh9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004955413:22,881,759...22,972,182
Ensembl chrNW_004955413:22,881,045...22,972,450 		JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chrNW_004955458:4,776,345...4,796,075
Ensembl chrNW_004955458:4,776,345...4,796,075 		JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 PMID:29880844 PMID:34788109 NCBI chrNW_004955429:3,172,457...3,358,688
Ensembl chrNW_004955429:3,172,996...3,358,688 		JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955502:4,219,067...4,356,988
Ensembl chrNW_004955502:4,218,885...4,356,988 		JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:24033266 PMID:28492532 NCBI chrNW_004955414:14,576,356...14,647,500
Ensembl chrNW_004955414:14,576,356...14,647,500 		JBrowse link
G Pcdh15 protocadherin related 15 ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:23804846 PMID:25741868 PMID:26226137 PMID:28492532 PMID:30029624 NCBI chrNW_004955425:8,443,523...9,203,177
Ensembl chrNW_004955425:8,428,680...8,899,028 		JBrowse link
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) RGD PMID:23084290 RGD:11554169 NCBI chrNW_004955424:27,407,451...27,449,830
Ensembl chrNW_004955424:27,407,489...27,448,992 		JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:28492532 NCBI chrNW_004955415:7,777,296...7,778,622
Ensembl chrNW_004955415:7,777,114...7,778,622 		JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chrNW_004955466:8,961,597...8,966,069
Ensembl chrNW_004955466:8,961,597...8,966,069 		JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chrNW_004955405:36,063,688...36,115,312
Ensembl chrNW_004955405:36,063,688...36,115,312 		JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO DNA:snp:intron:IVS2-2A>G (human) RGD PMID:23554706 RGD:7364803 NCBI chrNW_004955410:8,358,780...8,414,145
Ensembl chrNW_004955410:8,358,786...8,414,145 		JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chrNW_004955412:22,062,618...22,132,037
Ensembl chrNW_004955412:22,062,618...22,131,442 		JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chrNW_004955434:3,781,368...3,923,240
Ensembl chrNW_004955434:3,781,113...3,923,391 		JBrowse link
G Tmc1 transmembrane channel like 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:9536098 PMID:17576681 PMID:21252500 PMID:23208854 PMID:24033266 More... NCBI chrNW_004955434:398,734...500,378
Ensembl chrNW_004955434:398,829...529,810 		JBrowse link
G Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 susceptibility ISO DNA:SNP:exon:rs35725509(human) RGD PMID:27311106 RGD:11252147 NCBI chrNW_004955405:20,969,836...21,357,939
Ensembl chrNW_004955405:20,969,952...21,359,783 		JBrowse link
G Ush1g USH1 protein network component sans ISO ClinVar Annotator: match by term: Non-Syndromic Hereditary Hearing Impairment ClinVar PMID:28492532 PMID:30029624 NCBI chrNW_004955553:1,788,443...1,795,139
Ensembl chrNW_004955553:1,788,401...1,796,441 		JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More... NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    sensory system disease 6162
      auditory system disease 892
        inner ear disease 582
          sensorineural hearing loss 543
            Nonsyndromic Sensorineural Hearing Loss 26
              mitochondrial nonsyndromic sensorineural deafness 0
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        Neurologic Manifestations 8844
          sensory system disease 6162
            Otorhinolaryngologic Diseases 1563
              auditory system disease 892
                Hearing Disorders 728
                  Hearing Loss 723
                    sensorineural hearing loss 543
                      Nonsyndromic Sensorineural Hearing Loss 26
                        mitochondrial nonsyndromic sensorineural deafness 0
paths to the root