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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 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.


show annotations for term's descendants           Sort by:
 
centronuclear myopathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1
ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
OMIM
ClinVar
PMID:16227997 PMID:17008356 PMID:17932957 PMID:18414213 PMID:19130742 PMID:20227276 PMID:20529869 PMID:20700106 PMID:20817456 PMID:20858595 PMID:20927630 PMID:21221624 PMID:21762456 PMID:22096584 PMID:22369075 PMID:22396310 PMID:22613877 PMID:23338057 PMID:23394783 PMID:24016602 PMID:24033266 PMID:24088041 PMID:24135484 PMID:24366529 PMID:24465259 PMID:24728327 PMID:25214167 PMID:25262827 PMID:25326635 PMID:25492887 PMID:25501959 PMID:25741868 PMID:25957634 PMID:26199319 PMID:26273216 PMID:26467025 PMID:26633545 PMID:26842864 PMID:26908122 PMID:27343996 PMID:27854218 PMID:28492532 PMID:28676641 PMID:32860008 NCBI chr 8:22,458,869...22,540,649
Ensembl chr 8:22,458,899...22,540,524
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:25741868 NCBI chr 6:18,821,821...18,840,449
Ensembl chr 6:18,821,815...18,839,409
JBrowse link
G Mtmr14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 OMIM
ClinVar
PMID:17008356 PMID:25741868 NCBI chr 4:145,195,046...145,238,097
Ensembl chr 4:145,195,070...145,238,097
JBrowse link
G Myf6 myogenic factor 6 ISO ClinVar Annotator: match by term: Centronuclear Myopathy, Dominant
ClinVar Annotator: match by term: Myopathy, centronuclear, 3
ClinVar PMID:11053684 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 7:49,739,643...49,741,490
Ensembl chr 7:49,739,646...49,741,540
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:31260566 NCBI chr 1:102,396,538...102,399,248
Ensembl chr 1:102,396,538...102,399,248
JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:51,768,469...51,935,442
Ensembl chr 7:51,794,173...51,935,142
JBrowse link
G Ppp1r12a protein phosphatase 1, regulatory subunit 12A ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:51,404,971...51,515,382
Ensembl chr 7:51,404,919...51,515,373
JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:49,763,657...50,034,932
Ensembl chr 7:49,763,657...50,034,932
JBrowse link
centronuclear myopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc78 coiled-coil domain containing 78 ISO ClinVar Annotator: match by OMIM:614807
ClinVar Annotator: match by term: Myopathy, centronuclear, 4
OMIM
ClinVar
PMID:18414213 PMID:22818856 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:15,155,839...15,160,039
Ensembl chr10:15,156,207...15,159,894
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                autosomal dominant centronuclear myopathy 9
                  centronuclear myopathy 1 8
                  centronuclear myopathy 4 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    centronuclear myopathy 23
                      autosomal dominant centronuclear myopathy 9
                        centronuclear myopathy 1 8
                        centronuclear myopathy 4 1
paths to the root