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ONTOLOGY REPORT - ANNOTATIONS


Term:autosomal dominant centronuclear myopathy
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Accession:DOID:0111217 term browser browse the term
Definition:A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:exact_synonym: AD-CNM
 xref: GARD:12719;   ORDO:169189
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant centronuclear myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:8554872
centronuclear myopathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnm2 dynamin 2 JBrowse link 8 22,458,869 22,540,649 RGD:7240710
RGD:8554872
G Mtm1 myotubularin 1 JBrowse link 6 18,821,821 18,840,449 RGD:8554872
G Mtmr14 myotubularin related protein 14 JBrowse link 4 145,195,046 145,238,097 RGD:7240710
RGD:8554872
G Myf6 myogenic factor 6 JBrowse link 7 49,739,643 49,741,490 RGD:8554872
G Otogl otogelin-like JBrowse link 7 51,768,469 51,935,442 RGD:8554872
G Ppp1r12a protein phosphatase 1, regulatory subunit 12A JBrowse link 7 51,404,971 51,515,382 RGD:8554872
G Ptprq protein tyrosine phosphatase, receptor type, Q JBrowse link 7 49,763,657 50,034,932 RGD:8554872
centronuclear myopathy 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc78 coiled-coil domain containing 78 JBrowse link 10 15,155,839 15,160,039 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      musculoskeletal system disease 4302
        muscular disease 968
          myopathy 556
            centronuclear myopathy 14
              autosomal dominant centronuclear myopathy 8
                centronuclear myopathy 1 7
                centronuclear myopathy 4 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        peripheral nervous system disease 2138
          neuropathy 1960
            neuromuscular disease 1530
              muscular disease 968
                muscle tissue disease 689
                  myopathy 556
                    centronuclear myopathy 14
                      autosomal dominant centronuclear myopathy 8
                        centronuclear myopathy 1 7
                        centronuclear myopathy 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.