ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal recessive nonsyndromic deafness 7
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Accession:DOID:0110520 term browser browse the term
Definition:An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. (DO)
Synonyms:exact_synonym: DFNB11;   Deafness, Autosomal Recessive 11;   Dfnb7;   autosomal recessive deafness 7
 primary_id: MESH:C563417;   RDO:0012678
 alt_id: OMIM:600974
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autosomal recessive nonsyndromic deafness 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dguok deoxyguanosine kinase JBrowse link 4 115,180,433 115,208,061 RGD:8554872
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:8554872
G F13a1 coagulation factor XIII A1 chain JBrowse link 17 28,504,650 28,680,015 RGD:8554872
G F13b coagulation factor XIII B chain JBrowse link 13 56,598,891 56,623,132 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Myo6 myosin VI JBrowse link 8 87,583,649 87,731,271 RGD:8554872
G Nphs2 NPHS2 stomatin family member, podocin JBrowse link 13 73,929,136 73,941,522 RGD:8554872
G Slc26a4 solute carrier family 26 member 4 JBrowse link 6 50,809,103 50,848,443 RGD:8554872
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
G Strc stereocilin JBrowse link 3 113,324,403 113,343,513 RGD:8554872
G Tmc1 transmembrane channel-like 1 JBrowse link 1 238,336,919 238,525,792 RGD:7240710
RGD:8554872
G Trpc6 transient receptor potential cation channel, subfamily C, member 6 JBrowse link 8 6,811,543 6,917,534 RGD:8554872
G Wfs1 wolframin ER transmembrane glycoprotein JBrowse link 14 78,640,707 78,665,224 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    sensory system disease 4265
      auditory system disease 667
        inner ear disease 473
          sensorineural hearing loss 437
            autosomal recessive nonsyndromic deafness 102
              autosomal recessive nonsyndromic deafness 7 13
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        sensory system disease 4265
          Otorhinolaryngologic Diseases 1042
            auditory system disease 667
              Hearing Disorders 553
                Hearing Loss 549
                  Deafness 261
                    nonsyndromic deafness 156
                      autosomal recessive nonsyndromic deafness 102
                        autosomal recessive nonsyndromic deafness 7 13
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.