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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:dilated cardiomyopathy 1S
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Accession:DOID:0110454 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. (DO)
Synonyms:exact_synonym: CMD1S
 narrow_synonym: biventricular noncompaction cardiomyopathy
 related_synonym: LVNC5;   left ventricular noncompaction 5
 primary_id: MESH:C563538
 alt_id: OMIM:613426
 xref: ICD10CM:I42.0


show annotations for term's descendants           Sort by:
dilated cardiomyopathy 1S term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DES desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:29253866 NCBI chr15:121,428,539...121,435,426
Ensembl chr15:121,427,642...121,435,423 		JBrowse link
G DSC2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:114,982,259...115,021,332
Ensembl chr 6:114,980,601...115,021,305 		JBrowse link
G DSP desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 PMID:28492532 PMID:29253866 PMID:32826072 NCBI chr 7:4,862,649...4,915,626
Ensembl chr 7:4,862,649...4,915,623 		JBrowse link
G LAMA4 laminin subunit alpha 4 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr 1:78,071,990...78,224,564
Ensembl chr 1:78,071,458...78,224,365 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:11897440 PMID:15219508 PMID:15539782 PMID:16061563 PMID:16537768 More... NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G MYH7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Biventricular noncompaction cardiomyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy 1S | ClinVar Annotator: match by term: Left ventricular noncompaction 5 OMIM
ClinVar		 PMID:564455 PMID:737223 PMID:901918 PMID:1218377 PMID:1423936 More... NCBI chr 7:75,650,841...75,672,908
Ensembl chr 7:75,648,442...75,673,225 		JBrowse link
G MYL2 myosin light chain 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18533079 PMID:20173211 PMID:21310275 PMID:22958901 PMID:23299917 More... NCBI chr14:32,205,953...32,213,848
Ensembl chr14:32,205,273...32,213,722 		JBrowse link
G NEXN nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19881492 PMID:20970104 PMID:23299917 PMID:24033266 PMID:24503780 More... NCBI chr 6:135,315,000...135,382,911
Ensembl chr 6:135,318,754...135,382,882 		JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:25741868 NCBI chr 5:41,424,687...41,509,590
Ensembl chr 5:41,424,845...41,508,868 		JBrowse link
G RBM20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... NCBI chr14:121,058,896...121,269,824
Ensembl chr14:121,210,666...121,269,823 		JBrowse link
G TNNC1 troponin C1, slow skeletal and cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:18572189 PMID:19439414 PMID:20215591 PMID:20459070 PMID:21056975 More... NCBI chr13:34,591,571...34,594,320
Ensembl chr13:34,591,386...34,594,337 		JBrowse link
G TNNT2 troponin T2, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar NCBI chr10:23,749,528...23,759,696
Ensembl chr10:23,749,335...23,763,396 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:23396983 PMID:23861362 PMID:23975875 PMID:24033266 PMID:25589632 More... NCBI chr15:84,226,953...84,501,320 JBrowse link
G VCL vinculin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1S ClinVar PMID:24033266 PMID:24062880 PMID:24503780 PMID:25741868 PMID:27532257 More... NCBI chr14:76,700,143...76,811,875
Ensembl chr14:76,700,173...76,811,869 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    physical disorder 4824
      congenital heart disease 1321
        Isolated Noncompaction of the Ventricular Myocardium 102
          left ventricular noncompaction 100
            dilated cardiomyopathy 1S 14
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        Congenital Abnormalities 7314
          Cardiovascular Abnormalities 1513
            congenital heart disease 1321
              Isolated Noncompaction of the Ventricular Myocardium 102
                left ventricular noncompaction 100
                  dilated cardiomyopathy 1S 14
paths to the root