Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 5
go back to main search page
Accession:DOID:0080096 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)
Synonyms:exact_synonym: MFM, filamin C-related;   MFM5;   filamin C-related myofibrillar myopathy;   filaminopathy;   filaminopathy, autosomal dominant
 broad_synonym: FLNB-related disorders
 primary_id: MESH:C537932
 alt_id: OMIM:609524


show annotations for term's descendants           Sort by:
myofibrillar myopathy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1F ATPase H+ transporting V1 subunit F IAGP ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr 7:128,862,856...128,865,847
Ensembl chr 7:128,862,856...128,865,847 		JBrowse link
G FLNB filamin B IAGP ClinVar Annotator: match by term: FLNB-Related Disorders ClinVar PMID:16752402 PMID:16801345 PMID:20301736 PMID:22190451 PMID:25741868 More... NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FLNC filamin C IAGP
ISS
EXP		 ClinVar Annotator: match by term: Myofibrillar myopathy 5
ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related
OMIM:609524
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2781633 PMID:9536098 PMID:15929027 PMID:16199547 PMID:17412757 More... NCBI chr 7:128,830,406...128,859,272
Ensembl chr 7:128,830,406...128,859,274 		JBrowse link
G FLNC-AS1 FLNC antisense RNA 1 IAGP ClinVar Annotator: match by term: Myofibrillar myopathy 5
ClinVar Annotator: match by term: Myofibrillar myopathy 5 | ClinVar Annotator: match by term: Myofibrillar myopathy, filamin C-related		 ClinVar PMID:9536098 PMID:15929027 PMID:16199547 PMID:17412757 PMID:17576681 More... NCBI chr 7:128,850,162...128,862,626
Ensembl chr 7:128,850,162...128,862,626 		JBrowse link
G IRF5 interferon regulatory factor 5 IAGP ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038 		JBrowse link
G KCP kielin cysteine rich BMP regulator IAGP ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr 7:128,876,865...128,910,709
Ensembl chr 7:128,862,042...128,910,719 		JBrowse link
G LOC129999273 ATAC-STARR-seq lymphoblastoid silent region 18616 IAGP ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:25741868 PMID:26467025 PMID:26555887 PMID:27908349 PMID:28356264 More...
G TNPO3 transportin 3 IAGP ClinVar Annotator: match by term: Myofibrillar myopathy 5 ClinVar PMID:28492532 NCBI chr 7:128,954,185...129,056,193
Ensembl chr 7:128,954,180...129,055,173 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7137
      congenital structural myopathy 189
        myofibrillar myopathy 96
          myofibrillar myopathy 5 8
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      nervous system disease 26235
        peripheral nervous system disease 5386
          neuropathy 5133
            neuromuscular disease 4046
              muscular disease 2811
                muscle tissue disease 1719
                  myopathy 1395
                    congenital myopathy 329
                      congenital structural myopathy 189
                        myofibrillar myopathy 96
                          myofibrillar myopathy 5 8
paths to the root