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autosomal dominant nonsyndromic deafness 6 - Ontology Report - Rat Genome Database

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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:autosomal dominant nonsyndromic deafness 6
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Accession:DOID:0110584 term browser browse the term
Definition:An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. (DO)
Synonyms:exact_synonym: DFNA14;   DFNA38;   DFNA6;   DFNA6/14/38;   Deafness, Autosomal Dominant 14;   Deafness, Autosomal Dominant 38;   autosomal dominant deafness 6
 xref: MESH:C563421;   MIM:600965;   MONDO:0010963

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autosomal dominant nonsyndromic deafness 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G H LOC129992166 ATAC-STARR-seq lymphoblastoid silent region 15229 IAGP ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38		 ClinVar PMID:12955714 PMID:17603484 PMID:18060660 PMID:20301750 PMID:20738327 More... NCBI chr 4:6,269,828...6,269,937 JBrowse link
G N 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 OMIM
ClinVar		 PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 PMID:9771706 More... NCBI chrNW_004624755:22,818,653...22,841,717
Ensembl chrNW_004624755:22,824,143...22,841,850 		JBrowse link
G 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 OMIM
ClinVar		 PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 PMID:9771706 More... NCBI chr27:42,404,028...42,437,988
Ensembl chr27:42,404,084...42,438,005 		JBrowse link
G P 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 OMIM
ClinVar		 PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 PMID:9771706 More... NCBI chr 8:4,362,678...4,405,185
Ensembl chr 8:4,362,680...4,385,273 		JBrowse link
G S 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 OMIM
ClinVar		 PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 PMID:9771706 More... NCBI chrNW_004936477:18,339,915...18,364,973
Ensembl chrNW_004936477:18,339,827...18,364,998 		JBrowse link
G D 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 OMIM
ClinVar		 PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 PMID:9771706 More... NCBI chr13:38,451,722...38,466,481
Ensembl chr13:38,451,710...38,475,827 		JBrowse link
G B 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 OMIM
ClinVar		 PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 PMID:9771706 More... Ensembl chr 4:6,345,864...6,379,287 JBrowse link
G C 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 OMIM
ClinVar		 PMID:3126496 PMID:3442652 PMID:3478949 PMID:9536098 PMID:9771706 More... NCBI chrNW_004955514:3,902,508...3,924,281
Ensembl chrNW_004955514:3,902,454...3,924,610 		JBrowse link
G R 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:3126496 PMID:3442652 PMID:3478949 PMID:9536098 PMID:9771706 More... NCBI chr14:78,035,205...78,059,718
Ensembl chr14:73,810,404...73,835,602 		JBrowse link
G M 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:3126496 PMID:3442652 PMID:3478949 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
G H WFS1 wolframin ER transmembrane glycoprotein IAGP
EXP		 ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6
ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 6 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 38
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3126496 PMID:3442652 PMID:3478949 PMID:8595423 PMID:9536098 More... NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      Hearing Disorders 8892
        Hearing Loss 8838
          sensorineural hearing loss 6611
            autosomal dominant nonsyndromic deafness 915
              autosomal dominant nonsyndromic deafness 6 11
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            Otorhinolaryngologic Diseases 19638
              auditory system disease 11215
                Hearing Disorders 8892
                  Hearing Loss 8838
                    Deafness 4116
                      nonsyndromic deafness 2338
                        autosomal dominant nonsyndromic deafness 915
                          autosomal dominant nonsyndromic deafness 6 11
paths to the root