Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 1G
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
dilated cardiomyopathy 1G term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekha3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:21681106 PMID:22335739 NCBI chr 3:63,536,166...63,557,378
Ensembl chr 3:63,536,166...63,557,361
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G
ClinVar Annotator: match by OMIM:604145
OMIM
ClinVar
PMID:1745277 PMID:9804419 PMID:10051295 PMID:10053013 PMID:10462489 PMID:11310621 PMID:11717165 PMID:11788824 PMID:11846417 PMID:12145747 PMID:12669942 PMID:12891679 PMID:15802564 PMID:16084088 PMID:17344846 PMID:17444505 PMID:17976239 PMID:18414213 PMID:18948003 PMID:19608031 PMID:19763152 PMID:20307669 PMID:20890277 PMID:21520333 PMID:21617319 PMID:21681106 PMID:21810661 PMID:22335739 PMID:22406018 PMID:22526018 PMID:22577215 PMID:22577218 PMID:22577220 PMID:22820391 PMID:23033978 PMID:23297410 PMID:23299917 PMID:23396983 PMID:23418287 PMID:23478172 PMID:23486992 PMID:23514108 PMID:23518707 PMID:23606733 PMID:23620651 PMID:23675308 PMID:23757202 PMID:23852418 PMID:23861362 PMID:23975875 PMID:23995273 PMID:24033266 PMID:24055113 PMID:24082139 PMID:24105469 PMID:24119082 PMID:24231549 PMID:24271327 PMID:24315344 PMID:24384345 PMID:24395473 PMID:24440382 PMID:24444549 PMID:24459294 PMID:24503780 PMID:24558114 PMID:24569025 PMID:24575448 PMID:24578547 PMID:24636144 PMID:24667040 PMID:24892279 PMID:24980681 PMID:25016126 PMID:25145518 PMID:25163546 PMID:25214167 PMID:25253871 PMID:25326635 PMID:25326637 PMID:25363768 PMID:25447171 PMID:25448463 PMID:25498755 PMID:25500009 PMID:25500949 PMID:25556389 PMID:25589632 PMID:25626705 PMID:25741868 PMID:25772186 PMID:25783436 PMID:25889363 PMID:25979592 PMID:26084686 PMID:26269091 PMID:26272908 PMID:26315439 PMID:26383259 PMID:26467025 PMID:26498160 PMID:26516846 PMID:26518445 PMID:26559152 PMID:26567375 PMID:26573135 PMID:26627873 PMID:26701604 PMID:26718681 PMID:26735901 PMID:26777568 PMID:26841830 PMID:26899768 PMID:27040692 PMID:27066507 PMID:27066551 PMID:27159402 PMID:27182706 PMID:27194543 PMID:27273923 PMID:27321809 PMID:27353043 PMID:27400856 PMID:27437901 PMID:27532257 PMID:27544385 PMID:27585509 PMID:27588451 PMID:27625338 PMID:27650965 PMID:27788187 PMID:27796757 PMID:27813223 PMID:27843123 PMID:27854218 PMID:27854229 PMID:27868399 PMID:27868403 PMID:27886618 PMID:27930701 PMID:28045975 PMID:28166282 PMID:28256728 PMID:28295036 PMID:28416588 PMID:28449774 PMID:28492532 PMID:28578331 PMID:28600387 PMID:28611029 PMID:28704380 PMID:28716623 PMID:28750076 PMID:28771489 PMID:28822653 PMID:28831623 PMID:28857138 PMID:28877744 PMID:28941705 PMID:29029073 PMID:29057560 PMID:29099038 PMID:29179779 PMID:29221435 PMID:29361395 PMID:29382405 PMID:29386531 PMID:29435569 PMID:29447731 PMID:29540445 PMID:29540472 PMID:29691892 PMID:29773157 PMID:29961767 PMID:29970176 PMID:30012837 PMID:30109841 PMID:30311386 PMID:30371277 PMID:30429050 PMID:30535219 PMID:30536954 PMID:30615648 PMID:30665247 PMID:30924900 PMID:30985088 PMID:30993396 PMID:31053406 PMID:31127727 PMID:31333075 PMID:31568572 NCBI chr 3:63,565,160...63,837,815 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            dilated cardiomyopathy 1G 2
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      cardiovascular system disease 4425
        heart disease 2667
          cardiomyopathy 1090
            intrinsic cardiomyopathy 737
              dilated cardiomyopathy 298
                dilated cardiomyopathy 1G 2
paths to the root