Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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: MIM: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 Ccdc141 coiled-coil domain containing 141 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:28492532 PMID:30557390 NCBI chr 3:82,357,046...82,517,199
Ensembl chr 3:61,948,646...62,110,079 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:25741868 PMID:27532257 PMID:29062697 NCBI chr17:26,829,153...26,877,419
Ensembl chr17:26,623,588...26,671,800 		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:25640679 More... NCBI chr 3:61,609,384...61,623,710
Ensembl chr 3:61,608,557...61,623,280 		JBrowse link
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:25741868 NCBI chr19:34,555,832...34,596,281
Ensembl chr19:18,382,439...18,417,177 		JBrowse link
G Pjvk pejvakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:18948003 PMID:23975875 PMID:24395473 PMID:25589632 PMID:25640679 More... NCBI chr 3:82,002,106...82,012,273
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 Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1G ClinVar PMID:7628019 PMID:15256438 PMID:16144131 PMID:16619239 PMID:17557300 More... NCBI chr12:15,790,478...15,814,790
Ensembl chr12:10,676,764...10,701,066 		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:25640679 More... NCBI chr 3:81,982,669...82,002,028
Ensembl chr 3:61,575,447...61,594,347 		JBrowse link
G Ttn titin ISO
ISS		 ClinVar Annotator: match by term: Dilated cardiomyopathy 1G
OMIM:604145
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1745277 PMID:3125138 PMID:4315225 PMID:9536098 PMID:9804419 More... NCBI chr 3:82,059,648...82,332,130
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 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10963
            dilated cardiomyopathy 1G 9
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      respiratory system disease 5245
        thoracic disease 4049
          heart disease 3476
            cardiomyopathy 1430
              intrinsic cardiomyopathy 1018
                dilated cardiomyopathy 539
                  dilated cardiomyopathy 1G 9
paths to the root