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   new 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

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:Cardiac Conduction Disease with or without Dilated Cardiomyopathy
go back to main search page
Accession:DOID:9000652 term browser browse the term
Definition:CCDD is caused by heterozygous mutation in the TNNI3K gene (613932) on chromosome 1p31. (OMIM)
Synonyms:exact_synonym: CCDD;   TNNI3K-RELATED CONDITION
 primary_id: OMIM:616117;   RDO:9000809


show annotations for term's descendants           Sort by:
Cardiac Conduction Disease with or without Dilated Cardiomyopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutations:cds:multiple (human) RGD PMID:10580070 RGD:11066902 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Lrrc53 leucine rich repeat containing 53 ISO ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition ClinVar PMID:25741868 PMID:28492532 PMID:30010057 PMID:34203974 NCBI chr 2:243,781,445...243,807,037
Ensembl chr 2:243,769,297...243,803,164 		JBrowse link
G Tnni3k TNNI3 interacting kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cardiac conduction disease with or without dilated cardiomyopathy | ClinVar Annotator: match by term: TNNI3K-related condition		 OMIM
CTD
ClinVar		 PMID:16199547 PMID:24925317 PMID:25741868 PMID:25791106 PMID:28492532 More... NCBI chr 2:243,737,346...244,005,319
Ensembl chr 2:243,710,950...244,005,268 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Pathologic Processes 7991
        Cardiac Arrhythmias 726
          Cardiac Conduction Disease with or without Dilated Cardiomyopathy 3
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5412
        heart disease 3329
          Cardiac Arrhythmias 726
            Brugada syndrome 125
              Cardiac Conduction Defect 20
                Cardiac Conduction Disease with or without Dilated Cardiomyopathy 3
paths to the root