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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 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
 xref: NCI:C182078


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 Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:28492532 PMID:30557390 NCBI chr 3:61,948,614...62,109,968
Ensembl chr 3:61,948,646...62,110,079 		JBrowse link
G Fkbp7 FKBP prolyl isomerase 7 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:28492532 More... NCBI chr 3:61,609,384...61,623,710
Ensembl chr 3:61,608,557...61,623,280 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:28492532 More... NCBI chr 3:61,594,644...61,605,051
Ensembl chr 3:61,596,641...61,605,045 		JBrowse link
G Plekha3 pleckstrin homology domain containing A3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:21681106 PMID:22335739 PMID:23975875 PMID:24395473 More... NCBI chr 3:61,623,434...61,644,649
Ensembl chr 3:61,623,434...61,645,166 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:21549344 PMID:22277967 PMID:24033266 PMID:24808023 PMID:25058219 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:28492532 More... NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347 		JBrowse link
G Ttn titin ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:604145
ClinVar Annotator: match by term: Dilated cardiomyopathy 1G		 OMIM
CTD
MouseDO
ClinVar		 PMID:1745277 PMID:4315225 PMID:9536098 PMID:9804419 PMID:10051295 More... NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            dilated cardiomyopathy 1G 8
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      cardiovascular system disease 5404
        heart disease 3320
          cardiomyopathy 1301
            intrinsic cardiomyopathy 906
              dilated cardiomyopathy 455
                dilated cardiomyopathy 1G 8
paths to the root