ONTOLOGY REPORT - ANNOTATIONS


Term:dilated cardiomyopathy 1G
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Accession:DOID:0110430 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. (DO)
Synonyms:exact_synonym: CMD1G
 primary_id: MESH:C565824
 alt_id: OMIM:604145;   RDO:0014362
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dilated cardiomyopathy 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brca2 BRCA2, DNA repair associated JBrowse link 12 503,660 544,754 RGD:8554872
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:8554872
G Plekha3 pleckstrin homology domain containing A3 JBrowse link 3 63,536,166 63,557,378 RGD:8554872
G Polg DNA polymerase gamma, catalytic subunit JBrowse link 1 141,172,117 141,188,893 RGD:8554872
G Spg7 SPG7 matrix AAA peptidase subunit, paraplegin JBrowse link 19 55,880,549 55,914,729 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:7240710
RGD:8554872

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Path 1
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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          dilated cardiomyopathy 1G 6
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      cardiovascular system disease 4065
        heart disease 2230
          cardiomyopathy 899
            intrinsic cardiomyopathy 567
              dilated cardiomyopathy 270
                dilated cardiomyopathy 1G 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.