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ONTOLOGY REPORT - ANNOTATIONS


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;   RDO:0012767
For additional species annotation, visit the Alliance of Genome Resources.


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dilated cardiomyopathy 1S term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Des desmin JBrowse link 9 82,556,574 82,564,288 RGD:8554872
G Dsc2 desmocollin 2 JBrowse link 18 11,826,705 11,858,801 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Lama4 laminin subunit alpha 4 JBrowse link 20 44,060,715 44,201,966 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Myh7 myosin heavy chain 7 JBrowse link 15 33,605,769 33,657,761 RGD:7240710
RGD:8554872
G Myl2 myosin light chain 2 JBrowse link 12 39,951,863 39,959,065 RGD:8554872
G Nexn nexilin (F actin binding protein) JBrowse link 2 257,452,937 257,484,607 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Rbm20 RNA binding motif protein 20 JBrowse link 1 274,391,932 274,589,816 RGD:8554872
G Tnnc1 troponin C1, slow skeletal and cardiac type JBrowse link 16 7,292,207 7,295,238 RGD:8554872
G Tnnt2 troponin T2, cardiac type JBrowse link 13 52,662,974 52,680,992 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872
G Vcl vinculin JBrowse link 15 3,455,211 3,544,738 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      cardiovascular system disease 4277
        heart disease 2368
          Cardiomegaly 625
            dilated cardiomyopathy 267
              dilated cardiomyopathy 1S 14
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                dilated cardiomyopathy 1S 14
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.