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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 1LL
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Accession:DOID:0081157 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: CMD1LL;   PRDM16-RELATED CONDITION;   PRDM16-RELATED CONGENITAL HEART DISEASE
 related_synonym: LVNC8;   Left Ventricular Noncompaction 8
 primary_id: MIM:615373
 alt_id: DOID:9000215;   DOID:9008472


show annotations for term's descendants           Sort by:
dilated cardiomyopathy 1LL term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,783,382...171,797,709
Ensembl chr 5:171,783,382...171,798,191 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:170,518,470...170,519,870
Ensembl chr 5:170,518,165...170,521,164 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,031,528...172,064,429
Ensembl chr 5:172,031,528...172,064,539 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,680,597...171,682,854
Ensembl chr 5:171,680,597...171,683,431 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,632,545...171,652,725
Ensembl chr 5:171,632,547...171,652,725 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,866,428...171,868,564
Ensembl chr 5:171,864,094...171,874,789 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,833,854...171,838,229
Ensembl chr 5:171,833,854...171,838,800 		JBrowse link
G C5h1orf159 similar to human chromosome 1 open reading frame 159 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,983,700...172,001,373
Ensembl chr 5:171,983,936...172,001,373 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,698,951...171,711,037
Ensembl chr 5:171,699,689...171,711,231 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:171,495,776...171,521,145 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,252,907...171,328,351
Ensembl chr 5:171,262,113...171,328,349 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,757,181...171,761,271
Ensembl chr 5:171,757,181...171,761,266 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,738,911...171,750,967
Ensembl chr 5:171,739,133...171,750,966 		JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,083,328...171,097,599
Ensembl chr 5:171,087,847...171,097,599 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,581,960...171,584,519
Ensembl chr 5:171,580,033...171,595,399 		JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,240,813...171,252,709
Ensembl chr 5:171,240,789...171,253,094 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:170,804,511...170,807,988
Ensembl chr 5:170,803,940...170,806,021 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,761,370...171,779,883
Ensembl chr 5:171,761,371...171,779,883 		JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,526,037...171,542,479
Ensembl chr 5:171,526,037...171,541,910 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,930,717...171,930,805 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,931,495...171,931,589 JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,929,682...171,929,766 JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:170,713,602...170,744,058
Ensembl chr 5:170,713,627...170,744,058 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,521,905...171,525,007
Ensembl chr 5:171,520,494...171,524,695 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:170,928,086...170,987,219
Ensembl chr 5:170,929,321...170,987,218 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,690,664...171,695,728
Ensembl chr 5:171,691,198...171,695,728 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,731,153...171,735,879
Ensembl chr 5:171,731,353...171,735,879 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,427,973...171,458,586
Ensembl chr 5:171,428,000...171,458,579 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:170,807,744...170,824,478
Ensembl chr 5:170,807,745...170,824,477 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:170,910,136...170,915,302
Ensembl chr 5:170,910,157...170,916,685 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:170,826,543...170,885,012
Ensembl chr 5:170,826,543...170,885,152 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, 1LL | ClinVar Annotator: match by term: Left ventricular noncompaction 8 | ClinVar Annotator: match by term: PRDM16-related condition | ClinVar Annotator: match by term: PRDM16-related congenital heart disease OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23768516 PMID:24033266 More... NCBI chr 5:170,162,275...170,486,371
Ensembl chr 5:170,162,275...170,485,804 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,101,774...171,212,694
Ensembl chr 5:171,101,774...171,212,674 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:170,744,953...170,747,556
Ensembl chr 5:170,744,953...170,747,556 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,773,284...171,782,893
Ensembl chr 5:171,773,331...171,783,339 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:170,916,643...170,929,073
Ensembl chr 5:170,916,905...170,928,980 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,005,566...172,008,456
Ensembl chr 5:172,005,566...172,008,458 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,868,591...171,885,827
Ensembl chr 5:171,868,563...171,888,884 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:170,995,851...171,064,957
Ensembl chr 5:170,995,851...171,064,957 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,465,222...171,493,317
Ensembl chr 5:171,475,386...171,493,315 		JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,595,919...171,625,675
Ensembl chr 5:171,595,851...171,625,268 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,750,937...171,754,993
Ensembl chr 5:171,750,937...171,754,993 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,625,830...171,653,836
Ensembl chr 5:171,626,275...171,633,044 		JBrowse link
G Tmem278 transmembrane protein 278 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,673,319...171,676,143
Ensembl chr 5:171,673,319...171,676,143 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,330,948...171,332,704
Ensembl chr 5:171,330,966...171,332,704 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:170,768,413...170,776,749
Ensembl chr 5:170,768,416...170,776,046 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,901,734...171,904,578
Ensembl chr 5:171,901,717...171,904,576 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,889,134...171,891,824
Ensembl chr 5:171,889,117...171,892,616 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:170,693,410...170,711,215
Ensembl chr 5:170,693,402...170,710,368 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,912,371...171,937,733
Ensembl chr 5:171,912,376...171,926,337 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,815,607...171,830,037
Ensembl chr 5:171,815,623...171,830,034 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:171,659,694...171,664,880
Ensembl chr 5:171,659,698...171,664,880 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      congenital heart disease 1415
        Isolated Noncompaction of the Ventricular Myocardium 106
          left ventricular noncompaction 104
            Dilated Cardiomyopathy with Left Ventricular Noncompaction 92
              dilated cardiomyopathy 1LL 53
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      respiratory system disease 5247
        thoracic disease 4057
          heart disease 3483
            endocardium disease 107
              endocardial fibroelastosis 106
                Isolated Noncompaction of the Ventricular Myocardium 106
                  left ventricular noncompaction 104
                    Dilated Cardiomyopathy with Left Ventricular Noncompaction 92
                      dilated cardiomyopathy 1LL 53
paths to the root