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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 recessive centronuclear myopathy
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Accession:DOID:0111216 term browser browse the term
Definition:A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: AR-CNM;   centronuclear myopathy, recessive;   myotubular myopathy, autosomal recessive
 primary_id: MESH:C562934
 alt_id: OMIA:001660;   RDO:0008403;   RDO:0012436
 xref: GARD:12718;   ORDO:169186
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal recessive centronuclear myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bin1 bridging integrator 1 ISO ClinVar Annotator: match by OMIM:255200
ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Centronuclear Myopathy, Recessive
ClinVar
CTD
PMID:17676042 PMID:18414213 PMID:20142620 PMID:22912834 PMID:22960267 PMID:24033266 PMID:24549043 PMID:24755653 PMID:25262827 PMID:25741868 PMID:26101835 PMID:26467025 PMID:28492532 PMID:29103045 PMID:29950440 NCBI chr18:25,163,575...25,222,139
Ensembl chr18:25,163,561...25,222,135
JBrowse link
G Speg striated muscle enriched protein kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:82,571,333...82,628,684
Ensembl chr 9:82,571,269...82,628,709
JBrowse link
centronuclear myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bin1 bridging integrator 1 ISO OMIM NCBI chr18:25,163,575...25,222,139
Ensembl chr18:25,163,561...25,222,135
JBrowse link
centronuclear myopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp1b1 cytochrome P450, family 1, subfamily b, polypeptide 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10655546 PMID:11774072 PMID:11980847 PMID:14507861 PMID:16688110 PMID:16735991 PMID:16735994 PMID:17563717 PMID:17591938 PMID:17718864 PMID:18622259 PMID:19204079 PMID:19236111 PMID:19536304 PMID:19597567 PMID:19643970 PMID:19744731 PMID:19793111 PMID:21081970 PMID:21168818 PMID:23028769 PMID:24033266 PMID:24123366 PMID:24281366 PMID:25091052 PMID:25333069 PMID:25741868 PMID:25978063 PMID:27408750 PMID:27508083 PMID:27535533 PMID:28384041 PMID:28492532 PMID:28620713 PMID:29556725 NCBI chr 6:2,308,179...2,316,739
Ensembl chr 6:2,307,808...2,316,722
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 ClinVar PMID:10862084 PMID:12552569 PMID:15060124 PMID:15863657 PMID:16944272 PMID:17726231 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Speg striated muscle enriched protein kinase ISO ClinVar Annotator: match by term: Myopathy, centronuclear, 5 OMIM
ClinVar
PMID:25087613 PMID:25741868 PMID:28492532 NCBI chr 9:82,571,333...82,628,684
Ensembl chr 9:82,571,269...82,628,709
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital structural myopathy 150
        autosomal recessive centronuclear myopathy 4
          centronuclear myopathy 2 1
          centronuclear myopathy 5 3
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 792
                  myopathy 644
                    congenital structural myopathy 150
                      autosomal recessive centronuclear myopathy 4
                        centronuclear myopathy 2 1
                        centronuclear myopathy 5 3
paths to the root