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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;   ICD10CM:G71.228;   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 More... NCBI chr 8:19,978,313...20,060,162
Ensembl chr 8:19,978,400...20,060,157
JBrowse link
G Mtm1 myotubularin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:25741868 NCBI chr 6:488,691...506,964
Ensembl chr 6:488,969...506,860
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 4:146,386,949...146,429,990
Ensembl chr 4:146,386,956...146,429,990
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:9536098 PMID:11053684 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 7:42,813,008...42,814,852
Ensembl chr 7:42,812,792...42,814,852
JBrowse link
G Myod1 myogenic differentiation 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 1 ClinVar PMID:31260566 NCBI chr 1:96,884,864...96,887,574
Ensembl chr 1:96,884,948...96,887,554
JBrowse link
G Otogl otogelin-like ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:43,065,800...43,211,400
Ensembl chr 7:43,067,644...43,223,592
JBrowse link
G Ppp1r12a protein phosphatase 1, regulatory subunit 12A ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:43,482,808...43,593,689
Ensembl chr 7:43,482,803...43,593,425
JBrowse link
G Ptprq protein tyrosine phosphatase, receptor type, Q ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 3 ClinVar PMID:28492532 NCBI chr 7:42,837,109...43,016,917
Ensembl chr 7:42,837,109...43,016,917
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:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:22818856 More... NCBI chr10:14,808,355...14,812,284
Ensembl chr10:14,807,710...14,812,282
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          monogenic disease 7230
            autosomal genetic disease 6357
              autosomal dominant disease 4483
                autosomal dominant centronuclear myopathy 9
                  centronuclear myopathy 1 8
                  centronuclear myopathy 4 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        peripheral nervous system disease 2586
          neuropathy 2377
            neuromuscular disease 1890
              muscular disease 1291
                muscle tissue disease 835
                  myopathy 671
                    centronuclear myopathy 23
                      autosomal dominant centronuclear myopathy 9
                        centronuclear myopathy 1 8
                        centronuclear myopathy 4 1
paths to the root