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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:myofibrillar myopathy 6
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Accession:DOID:0080097 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: BAG3-related myofibrillar myopathy;   MFM6
 primary_id: MESH:C567843
 alt_id: OMIM:612954;   RDO:0009733;   RDO:0015757
For additional species annotation, visit the Alliance of Genome Resources.


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myofibrillar myopathy 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 6
ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related
OMIM
ClinVar
PMID:2159883 PMID:9536098 PMID:17576681 PMID:19085932 PMID:20605452 PMID:21353195 PMID:21361913 PMID:21459883 PMID:21676617 PMID:21898660 PMID:22337857 PMID:22734908 PMID:23582692 PMID:23861362 PMID:24033266 PMID:24558114 PMID:24623017 PMID:25008357 PMID:25208129 PMID:25273835 PMID:25326635 PMID:25448463 PMID:25728519 PMID:25741868 PMID:26392352 PMID:26467025 PMID:26512958 PMID:26545904 PMID:26899768 PMID:27042682 PMID:27164712 PMID:27321750 PMID:27443559 PMID:27896284 PMID:28166811 PMID:28359509 PMID:28436997 PMID:28492532 PMID:28611029 PMID:28669108 PMID:28704380 PMID:28737513 PMID:28750076 PMID:28754666 PMID:28798025 PMID:29016939 PMID:29247119 PMID:29382405 PMID:30012837 PMID:30373780 PMID:30377383 PMID:30559338 PMID:30615648 PMID:31333075 PMID:31568572 PMID:31723063 NCBI chr 1:199,941,258...199,965,191
Ensembl chr 1:199,941,161...199,965,191
JBrowse link
G Cd46 CD46 molecule ISO ClinVar Annotator: match by term: Myofibrillar myopathy, BAG3-related ClinVar PMID:25741868 NCBI chr13:113,786,525...113,818,741
Ensembl chr13:113,787,349...113,817,995
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    physical disorder 2959
      congenital structural myopathy 156
        myofibrillar myopathy 57
          myofibrillar myopathy 6 2
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        peripheral nervous system disease 2422
          neuropathy 2233
            neuromuscular disease 1779
              muscular disease 1190
                muscle tissue disease 813
                  myopathy 649
                    congenital structural myopathy 156
                      myofibrillar myopathy 57
                        myofibrillar myopathy 6 2
paths to the root