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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.



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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 Coch cochlin ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 6:69,031,139...69,045,124
Ensembl chr 6:69,031,167...69,045,109
JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:28492532 NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985
JBrowse link
G Eya4 EYA transcriptional coactivator and phosphatase 4 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 1:22,172,275...22,415,978
Ensembl chr 1:22,172,275...22,415,976
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO DNA:mutations:cds:c.30C>T,c.71T>G(human) RGD PMID:11741837 RGD:1578475 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO DNA:mutations:multiple:
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 Annotator: match by term: Nonsyndromic Hearing Loss, Dominant | ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss
ClinVar
RGD
PMID:9285800 PMID:9819448 PMID:10049954 PMID:10376574 PMID:10508996 More... RGD:7364796, RGD:7364798, RGD:7364803, RGD:7364812, RGD:7364817, RGD:7364823, RGD:7364883, RGD:7364888, RGD:7364892 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177
JBrowse link
G Gjb3 gap junction protein, beta 3 no_association ISO DNA:nonsense mutation, missense mutation:cds:p.A180X, p.Q183K (human)
DNA:missense mutations:cds:p.N166S, p.A194T (human)
DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant
ClinVar
RGD
PMID:9843210 PMID:19050930 PMID:15276679 RGD:1300214, RGD:7364900, RGD:12050154 NCBI chr 5:139,649,227...139,655,083
Ensembl chr 5:139,649,195...139,654,980
JBrowse link
G Gjb6 gap junction protein, beta 6 no_association ISO DNA:mutations:multiple:
DNA:del:cds:del(GJB6-D13S1830)
DNA:del::GJB6-D13S1854(human)
RGD PMID:23554706 PMID:20022641 PMID:23668481 PMID:22186156 PMID:21227513 RGD:7364803, RGD:7364812, RGD:7364817, RGD:7364891, RGD:7364892 NCBI chr15:31,284,562...31,295,010
Ensembl chr15:31,284,419...31,294,582
JBrowse link
G Myh14 myosin heavy chain 14 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:28492532 NCBI chr 1:95,096,266...95,158,861
Ensembl chr 1:95,096,266...95,158,836
JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:mutation:cds:p.R705H(human)
ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant
ClinVar
RGD
PMID:24033266 PMID:25741868 PMID:28492532 PMID:11023810 RGD:11533925 NCBI chr 7:109,343,718...109,424,457
Ensembl chr 7:109,343,706...109,424,457
JBrowse link
G Myo1a myosin IA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 NCBI chr 7:63,542,988...63,557,944
Ensembl chr 7:63,542,988...63,557,944
JBrowse link
G Myo3a myosin IIIA ISO ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss ClinVar PMID:25741868 PMID:29880844 NCBI chr17:84,554,785...84,604,748
Ensembl chr17:84,543,552...84,759,042
JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292
JBrowse link
G Myo7a myosin VIIA ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:28492532 NCBI chr 1:152,342,611...152,414,171
Ensembl chr 1:152,344,448...152,414,157
JBrowse link
G Pnpt1 polyribonucleotide nucleotidyltransferase 1 ISO DNA:missense mutation:cds:c.1424A>G(p.E475G)(human) RGD PMID:23084290 RGD:11554169 NCBI chr14:102,877,553...102,908,696
Ensembl chr14:102,877,553...102,908,696
JBrowse link
G Pou4f3 POU class 4 homeobox 3 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr18:34,390,205...34,392,797
Ensembl chr18:34,390,205...34,392,797
JBrowse link
G Six1 SIX homeobox 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 6:91,746,739...91,751,975
Ensembl chr 6:91,746,739...91,751,975
JBrowse link
G Slc17a8 solute carrier family 17 member 8 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar NCBI chr 7:23,994,212...24,049,498
Ensembl chr 7:23,994,217...24,048,079
JBrowse link
G Slc26a5 solute carrier family 26 member 5 ISO DNA:snp:intron:IVS2-2A>G (human) RGD PMID:23554706 RGD:7364803 NCBI chr 4:13,210,260...13,249,289
Ensembl chr 4:13,210,260...13,249,289
JBrowse link
G Tecta tectorin alpha ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:25741868 NCBI chr 8:42,707,962...42,779,726
Ensembl chr 8:42,707,962...42,779,707
JBrowse link
G Tjp2 tight junction protein 2 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:24033266 PMID:28492532 PMID:30311386 NCBI chr 1:221,709,745...221,838,383
Ensembl chr 1:221,709,745...221,838,295
JBrowse link
G Tmc1 transmembrane channel-like 1 ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:21252500 PMID:23208854 PMID:24033266 PMID:25741868 NCBI chr 1:218,275,262...218,445,955
Ensembl chr 1:218,276,417...218,445,955
JBrowse link
G Tmtc2 transmembrane O-mannosyltransferase targeting cadherins 2 susceptibility ISO DNA:SNP:exon:rs35725509(human) RGD PMID:27311106 RGD:11252147 NCBI chr 7:40,392,377...40,806,685
Ensembl chr 7:40,394,220...40,807,298
JBrowse link
G Wfs1 wolframin ER transmembrane glycoprotein ISO ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Dominant ClinVar PMID:21446023 PMID:21602428 PMID:24033266 PMID:28492532 NCBI chr14:73,810,478...73,834,993
Ensembl chr14:73,810,404...73,835,602
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 ISS
ISO
OMIM:500008
ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial
MouseDO
ClinVar
PMID:127819 PMID:1322638 PMID:1634041 PMID:1732158 PMID:6213205 More... NCBI chr MT:5,323...6,867
Ensembl chr MT:5,323...6,867
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO ClinVar Annotator: match by term: Deafness, nonsyndromic sensorineural, mitochondrial ClinVar PMID:1613771 PMID:7689389 PMID:8285309 PMID:8414970 PMID:8687424 More... NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    sensory system disease 6555
      auditory system disease 1068
        inner ear disease 789
          sensorineural hearing loss 651
            Nonsyndromic Sensorineural Hearing Loss 25
              mitochondrial nonsyndromic sensorineural deafness 2
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        sensory system disease 6555
          Otorhinolaryngologic Diseases 1649
            auditory system disease 1068
              Hearing Disorders 799
                Hearing Loss 795
                  sensorineural hearing loss 651
                    Nonsyndromic Sensorineural Hearing Loss 25
                      mitochondrial nonsyndromic sensorineural deafness 2
paths to the root