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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 recessive nonsyndromic deafness 1A
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Accession:DOID:0110475 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. (DO)
Synonyms:exact_synonym: AUTOSOMAL RECESSIVE DEAFNESS TYPE 1A;   DFNB1A;   autosomal recessive deafness 1A
 narrow_synonym: DEAFNESS, DIGENIC, GJB2/GJB3;   DEAFNESS, DIGENIC, GJB2/GJB6
 primary_id: MESH:C567134
 alt_id: OMIM:220290
 xref: NCI:C129022


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autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name 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 chr15:31,427,011...31,545,997
Ensembl chr15:31,427,054...31,545,997 		JBrowse link
G Eef1akmt1 EEF1A lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,694,284...31,711,367
Ensembl chr15:31,694,292...31,711,336 		JBrowse link
G Gja3 gap junction protein, alpha 3 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,181,360...31,206,820
Ensembl chr15:31,181,369...31,206,810 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:220290
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6		 OMIM
CTD
MouseDO
ClinVar		 PMID:3 PMID:1218943 PMID:1511312 PMID:1693158 PMID:2104787 More... 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 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
OMIM		 PMID:19050930 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 5:139,649,227...139,654,970
Ensembl chr 5:139,649,195...139,654,980 		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 5:139,675,776...139,679,551
Ensembl chr 5:139,675,780...139,679,667 		JBrowse link
G Gjb6 gap junction protein, beta 6 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:220290
ClinVar Annotator: match by term: Deafness, autosomal recessive 1A | ClinVar Annotator: match by term: Deafness, digenic, GJB2/GJB6		 OMIM
CTD
MouseDO
ClinVar		 PMID:10610709 PMID:10730756 PMID:11017065 PMID:11807148 PMID:11896458 More... NCBI chr15:31,284,561...31,294,552
Ensembl chr15:31,284,419...31,294,582 		JBrowse link
G Ift88 intraflagellar transport 88 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147 		JBrowse link
G Il17d interleukin 17D ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,671,337...31,688,833 JBrowse link
G Xpo4 exportin 4 ISO ClinVar Annotator: match by term: Deafness, autosomal recessive 1A ClinVar PMID:28492532 NCBI chr15:31,717,016...31,807,723
Ensembl chr15:31,716,762...31,807,908 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    sensory system disease 7022
      Hearing Disorders 821
        Hearing Loss 816
          sensorineural hearing loss 626
            autosomal recessive nonsyndromic deafness 142
              autosomal recessive nonsyndromic deafness 1A 10
Path 2
Term Annotations click to browse term
  disease 18976
    Pathological Conditions, Signs and Symptoms 13376
      Signs and Symptoms 10866
        Neurologic Manifestations 10102
          sensory system disease 7022
            Otorhinolaryngologic Diseases 1741
              auditory system disease 994
                Hearing Disorders 821
                  Hearing Loss 816
                    Deafness 375
                      nonsyndromic deafness 216
                        autosomal recessive nonsyndromic deafness 142
                          autosomal recessive nonsyndromic deafness 1A 10
paths to the root