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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: Nonsyndromic hearing loss, dominant;   autosomal dominant nonsyndromic hereditary hearing impairment;   nonsyndromic hereditary hearing impairment
 primary_id: MESH:C537845
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Nonsyndromic Sensorineural Hearing Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coch cochlin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 6:72,359,702...72,373,710
Ensembl chr 6:72,359,791...72,373,695
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 NCBI chr20:3,829,324...3,859,022
Ensembl chr20:3,830,164...3,859,018
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 1:23,237,617...23,611,580
Ensembl chr 1:23,409,408...23,610,164
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO DNA:mutations:cds:c.30C>T,c.71T>G(human) RGD PMID:11741837 RGD:1578475 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO DNA:mutations:multiple:
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant
DNA:mutations:cds:c.235delC,p.Y136X,P.R143W(human)
DNA:mutations:cds:c.35delG,p.W24X(human)
DNA:misssense mutations,deletion:cds:
DNA:missense mutations,deletion:cds:
ClinVar PMID:9285800 PMID:9819448 PMID:10049954 PMID:10508996 PMID:10596881 PMID:10903123 PMID:10982182 PMID:11074495 PMID:11386851 PMID:11556849 PMID:11668644 PMID:11935342 PMID:15967879 PMID:16380907 PMID:17666888 PMID:18414213 PMID:19125024 PMID:20739944 PMID:21465647 PMID:22567369 PMID:22695344 PMID:22785241 PMID:24033266 PMID:24158611 PMID:24529908 PMID:25741868 PMID:26096904 PMID:26236732 PMID:26467025 PMID:28492532 PMID:30311386, PMID:23680645, PMID:23073770, PMID:23554706, PMID:20022641, PMID:23668481, PMID:10633133, PMID:24052745, PMID:22037723, PMID:21227513 RGD:7364796, RGD:7364798, RGD:7364803, RGD:7364812, RGD:7364817, RGD:7364823, RGD:7364883, RGD:7364888, RGD:7364892 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
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 PMID:9843210, PMID:15276679, PMID:19050930 RGD:1300214, RGD:12050154, RGD:7364900 NCBI chr 5:145,390,590...145,397,271
Ensembl chr 5:145,391,311...145,392,123
JBrowse link
G Gjb6 gap junction protein, beta 6 no_association ISO DNA:mutations:multiple:
DNA:del::GJB6-D13S1854(human)
DNA:del:cds:del(GJB6-D13S1830)
RGD PMID:23554706, PMID:21227513, PMID:22186156, PMID:23668481, PMID:20022641 RGD:7364803, RGD:7364892, RGD:7364891, RGD:7364817, RGD:7364812 NCBI chr15:37,400,888...37,411,656
Ensembl chr15:37,400,889...37,410,848
JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:28492532 NCBI chr 1:100,608,975...100,671,086
Ensembl chr 1:100,608,966...100,671,074
JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:mutation:cds:p.R705H(human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant
ClinVar PMID:24033266 PMID:25741868 PMID:28492532, PMID:11023810 RGD:11533925 NCBI chr 7:118,740,005...118,792,507
Ensembl chr 7:118,741,110...118,792,625
JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 NCBI chr 7:71,000,299...71,019,386
Ensembl chr 7:71,004,417...71,019,372
JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 PMID:29880844 NCBI chr17:88,952,635...89,167,538
Ensembl chr17:88,963,981...89,167,018
JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 NCBI chr 8:87,583,649...87,731,271
Ensembl chr 8:87,630,916...87,731,269
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 NCBI chr 1:163,001,313...163,071,545
Ensembl chr 1:163,001,875...163,071,508
JBrowse link
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) RGD PMID:23084290 RGD:11554169 NCBI chr14:113,530,470...113,561,645
Ensembl chr14:113,530,470...113,561,645
JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr18:36,713,869...36,716,461
Ensembl chr18:36,713,869...36,716,461
JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 6:95,929,060...95,934,296
Ensembl chr 6:95,929,060...95,934,296
JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 7:30,215,231...30,274,993
Ensembl chr 7:30,216,104...30,274,984
JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO DNA:snp:intron:IVS2-2A>G (human) RGD PMID:23554706 RGD:7364803 NCBI chr 4:9,795,811...9,860,904
Ensembl chr 4:9,821,541...9,860,571
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chr 8:46,603,728...46,675,658
Ensembl chr 8:46,603,728...46,675,544
JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:241,945,816...242,084,044
Ensembl chr 1:241,945,841...242,083,484
JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:21252500 PMID:23208854 PMID:24033266 PMID:25741868 NCBI chr 1:238,336,919...238,525,792
Ensembl chr 1:238,336,919...238,441,500
JBrowse link
G Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 susceptibility ISO DNA:SNP:exon:rs35725509(human) RGD PMID:27311106 RGD:11252147 NCBI chr 7:47,179,596...47,586,777
Ensembl chr 7:47,181,981...47,586,137
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:21446023 PMID:21602428 PMID:24033266 NCBI chr14:78,640,707...78,665,224
Ensembl chr14:78,640,620...78,665,966
JBrowse link
mitochondrial nonsyndromic sensorineural deafness term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-co1 mitochondrially encoded cytochrome c oxidase I ISO
ISS
ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial
OMIM:500008
ClinVar
MouseDO
PMID:127819 PMID:1322638 PMID:1634041 PMID:1732158 PMID:6213205 PMID:7987332 PMID:8019558 PMID:8060346 PMID:8240356 PMID:8572257 PMID:8680405 PMID:9450881 PMID:9742104 PMID:10577941 PMID:11069477 PMID:11175301 PMID:16152638 PMID:17659260 PMID:18639500 PMID:20301595 PMID:25741868 PMID:31965079 NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:17637808 PMID:22241583 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      auditory system disease 751
        inner ear disease 538
          sensorineural hearing loss 498
            Nonsyndromic Sensorineural Hearing Loss 25
              mitochondrial nonsyndromic sensorineural deafness 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          Otorhinolaryngologic Diseases 1168
            auditory system disease 751
              Hearing Disorders 610
                Hearing Loss 606
                  sensorineural hearing loss 498
                    Nonsyndromic Sensorineural Hearing Loss 25
                      mitochondrial nonsyndromic sensorineural deafness 2
paths to the root