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ONTOLOGY REPORT - ANNOTATIONS


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: DFNB1A;   autosomal recessive deafness 1A
 narrow_synonym: DEAFNESS, DIGENIC, GJB2/GJB3;   DEAFNESS, DIGENIC, GJB2/GJB6
 primary_id: MESH:C567134;   RDO:0015292
 alt_id: OMIM:220290
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autosomal recessive nonsyndromic deafness 1A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cryl1 crystallin, lambda 1 JBrowse link 15 37,543,727 37,663,586 RGD:8554872
G Eef1akmt1 EEF1A lysine methyltransferase 1 JBrowse link 15 37,813,115 37,830,932 RGD:8554872
G Gja3 gap junction protein, alpha 3 JBrowse link 15 37,298,607 37,325,370 RGD:8554872
G Gjb2 gap junction protein, beta 2 JBrowse link 15 37,377,313 37,394,494 RGD:7240710
RGD:8554872
G Gjb3 gap junction protein, beta 3 JBrowse link 5 145,390,590 145,397,271 RGD:7240710
RGD:8554872
G Gjb4 gap junction protein, beta 4 JBrowse link 5 145,416,343 145,421,122 RGD:8554872
G Gjb6 gap junction protein, beta 6 JBrowse link 15 37,400,888 37,411,656 RGD:7240710
RGD:8554872
G Ift88 intraflagellar transport 88 JBrowse link 15 37,690,417 37,786,855 RGD:8554872
G Il17d interleukin 17D JBrowse link 15 37,790,211 37,807,653 RGD:8554872
G Xpo4 exportin 4 JBrowse link 15 37,835,580 37,926,715 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    sensory system disease 4659
      auditory system disease 685
        inner ear disease 494
          sensorineural hearing loss 458
            autosomal recessive nonsyndromic deafness 96
              autosomal recessive nonsyndromic deafness 1A 10
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          Otorhinolaryngologic Diseases 1076
            auditory system disease 685
              Hearing Disorders 570
                Hearing Loss 566
                  Deafness 249
                    nonsyndromic deafness 150
                      autosomal recessive nonsyndromic deafness 96
                        autosomal recessive nonsyndromic deafness 1A 10
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.