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:dilated cardiomyopathy 1A
go back to main search page
Accession:DOID:0110425 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: CDCD1;   CMD1A;   dilated cardiomyopathy with conduction defect 1;   dilated cardiomyopathy, LMNA;   familial dilated cardiomyopathy with conduction defect due to LMNA mutation
 primary_id: OMIM:115200
 xref: NCI:C165596;   ORDO:300751

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
dilated cardiomyopathy 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:24439875 PMID:25741868 PMID:27532257 PMID:28492532 NCBI chrNW_004936548:4,983,461...5,110,693
Ensembl chrNW_004936548:4,987,847...5,108,104 		JBrowse link
G Actc1 actin alpha cardiac muscle 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936673:1,092,700...1,098,256
Ensembl chrNW_004936673:1,092,717...1,100,331 		JBrowse link
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chrNW_004936484:16,186,844...16,248,394
Ensembl chrNW_004936484:16,186,642...16,248,400 		JBrowse link
G Ankrd1 ankyrin repeat domain 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:19608031 PMID:23299917 PMID:23572067 PMID:23861362 PMID:24033266 More... NCBI chrNW_004936601:3,502,844...3,510,919
Ensembl chrNW_004936601:3,502,844...3,511,003 		JBrowse link
G Bag3 BAG cochaperone 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:21353195 PMID:24033266 PMID:25741868 PMID:28436997 PMID:28492532 More... NCBI chrNW_004936486:8,985,871...9,007,461
Ensembl chrNW_004936486:8,985,761...9,007,502 		JBrowse link
G Des desmin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30847666 NCBI chrNW_004936569:1,807,902...1,814,936
Ensembl chrNW_004936569:1,807,805...1,815,562 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 PMID:34103343 NCBI chrNW_004936553:7,157,526...7,943,703 JBrowse link
G Dot1l DOT1 like histone lysine methyltransferase ISO OMIM:115200 MouseDO NCBI chrNW_004936588:1,288,447...1,332,489
Ensembl chrNW_004936588:1,288,392...1,330,297 		JBrowse link
G Dsc2 desmocollin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16199547 PMID:23911551 PMID:24033266 PMID:25741868 PMID:28153106 More... NCBI chrNW_004936682:2,057,331...2,091,034
Ensembl chrNW_004936682:2,057,190...2,164,429 		JBrowse link
G Dsg2 desmoglein 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936682:1,676,301...1,725,132
Ensembl chrNW_004936682:1,676,290...1,722,783 		JBrowse link
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:20716751 PMID:23292937 PMID:23861362 PMID:24033266 PMID:24125834 More... NCBI chrNW_004936534:5,029,008...5,076,467
Ensembl chrNW_004936534:5,028,911...5,077,199 		JBrowse link
G Emd emerin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 NCBI chrNW_004936809:1,127,701...1,130,195
Ensembl chrNW_004936809:1,127,710...1,130,195 		JBrowse link
G Hand2 heart and neural crest derivatives expressed 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:26676105 NCBI chrNW_004936516:4,692,926...4,695,625
Ensembl chrNW_004936516:4,692,926...4,695,632 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:14662268 PMID:17097056 PMID:17235623 PMID:17438622 PMID:19377068 More... NCBI chrNW_004936804:196,592...259,168
Ensembl chrNW_004936804:196,598...259,168 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 1 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation OMIM
ClinVar		 PMID:262236 PMID:2007407 PMID:2270059 PMID:2338570 PMID:2526018 More... NCBI chrNW_004936580:5,374,208...5,395,442
Ensembl chrNW_004936580:5,373,974...5,395,468 		JBrowse link
G LOC101972165 myosin-7 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:30105547 PMID:34816733 NCBI chrNW_004936722:967,443...991,530
Ensembl chrNW_004936722:969,384...991,129 		JBrowse link
G LOC101976824 nuclear factor of activated T cells 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chrNW_004936514:3,453,475...3,579,292
Ensembl chrNW_004936514:3,467,178...3,578,882 		JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:28492532 PMID:32041611 PMID:33303402 NCBI chrNW_004936555:4,084,099...4,108,219
Ensembl chrNW_004936555:4,084,099...4,108,365 		JBrowse link
G Mybpc3 myosin binding protein C3 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:11499718 PMID:11815426 PMID:12110947 PMID:12707239 PMID:12818575 More... NCBI chrNW_004936562:1,871,194...1,890,092
Ensembl chrNW_004936562:1,871,410...1,889,648 		JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936521:10,050,638...10,142,395
Ensembl chrNW_004936521:10,050,638...10,142,395 		JBrowse link
G Nexn nexilin F-actin binding protein ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936571:4,704,009...4,728,305
Ensembl chrNW_004936571:4,703,955...4,729,018 		JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936607:3,458,406...3,530,066
Ensembl chrNW_004936607:3,458,073...3,532,543 		JBrowse link
G Rapgef5 Rap guanine nucleotide exchange factor 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chrNW_004936546:7,860,795...8,051,351
Ensembl chrNW_004936546:7,864,608...8,051,356 		JBrowse link
G Rbm20 RNA binding motif protein 20 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:19712804 PMID:20590677 PMID:22004663 PMID:22466703 PMID:24033266 More... NCBI chrNW_004936486:1,472,170...1,652,314
Ensembl chrNW_004936486:1,472,227...1,653,209 		JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:16712702 PMID:18508782 PMID:19716085 PMID:22581653 PMID:23631430 More... NCBI chrNW_004936473:27,883,526...27,963,994
Ensembl chrNW_004936473:27,883,526...27,963,994 		JBrowse link
G Sema3e semaphorin 3E ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chrNW_004936734:1,850,709...2,085,541
Ensembl chrNW_004936734:1,850,673...2,084,891 		JBrowse link
G Sgcd sarcoglycan delta ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:24033266 PMID:25637381 PMID:25741868 NCBI chrNW_004936515:6,278,631...6,908,193
Ensembl chrNW_004936515:6,283,051...6,908,174 		JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:20074989 PMID:23520115 PMID:25741868 PMID:28492532 NCBI chrNW_004936647:2,774,063...2,798,585
Ensembl chrNW_004936647:2,773,768...2,798,511 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chrNW_004936489:4,903,176...5,177,987 JBrowse link
G Tafazzin tafazzin, phospholipid-lysophospholipid transacylase ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936809:1,160,265...1,168,956
Ensembl chrNW_004936809:1,160,247...1,171,097 		JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar PMID:28492532 NCBI chrNW_004936886:437,754...440,925
Ensembl chrNW_004936886:437,754...440,458 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation ClinVar PMID:9536098 PMID:17576681 PMID:21520333 PMID:22335739 PMID:23418287 More... NCBI chrNW_004936509:7,733,426...7,999,503 JBrowse link
G Unc45b unc-45 myosin chaperone B ISO ClinVar Annotator: match by term: Dilated cardiomyopathy 1A ClinVar NCBI chrNW_004936538:73,180...96,677
Ensembl chrNW_004936538:73,176...96,712 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          Laminopathies 55
            dilated cardiomyopathy 1A 33
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                dilated cardiomyopathy 1A 33
paths to the root