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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:Left Ventricular Noncompaction 8
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Accession:DOID:9008472 term browser browse the term
Synonyms:exact_synonym: LVNC8
 narrow_synonym: CARDIOMYOPATHY, DILATED, 1LL;   CMD1LL
 primary_id: OMIM:615373
 alt_id: RDO:9000922
For additional species annotation, visit the Alliance of Genome Resources.


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Left Ventricular Noncompaction 8 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 chrNW_004936737:1,836,851...1,850,279 JBrowse link
G Actrt2 actin related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:765,125...766,432 JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:2,010,647...2,041,401 JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,751,065...1,753,843 JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,776,550...1,778,233 JBrowse link
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,887,250...1,889,055 JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,877,428...1,881,345 JBrowse link
G Calml6 calmodulin like 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,468,172...1,470,326 JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,765,027...1,773,156 JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,416,475...1,465,984 JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,816,461...1,820,353 JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,975,031...1,991,058 JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,797,348...1,811,043 JBrowse link
G Faap20 FA core complex associated protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,296,152...1,300,038 JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,658,932...1,668,081 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 chrNW_004936737:1,400,437...1,405,885 JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,518,855...1,554,926 JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,045,496...1,047,865 JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,820,472...1,833,301 JBrowse link
G Mib2 MIB E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,633,495...1,646,598 JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:970,504...997,452 JBrowse link
G Mmp23b matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,628,915...1,632,023 JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,166,183...1,214,517 JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,760,236...1,761,776 JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,790,653...1,794,749 JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,568,304...1,579,929 JBrowse link
G Pank4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,049,467...1,064,548 JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,144,753...1,152,720 JBrowse link
G Plch2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,066,860...1,131,627 JBrowse link
G Prdm16 PR/SET domain 16 ISO OMIM NCBI chrNW_004936737:400,819...446,768 JBrowse link
G Prkcz protein kinase C zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,303,502...1,383,135 JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:998,313...1,000,757 JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,833,298...1,836,101 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 chrNW_004936737:1,152,937...1,164,817 JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,992,117...1,997,810 JBrowse link
G Scnn1d sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,851,185...1,854,923 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,889,123...1,898,303 JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,223,653...1,274,664 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 chrNW_004936737:1,678,425...1,705,569 JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,811,123...1,814,982 JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,710,311...1,711,882 JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,466,168...1,468,003 JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,746,208...1,746,947 JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,008,228...1,013,575 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,905,307...1,910,356 JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,901,749...1,904,382 JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,910,286...1,926,061 JBrowse link
G Ube2j2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004936737:1,862,577...1,875,216 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 chrNW_004936737:1,733,837...1,738,861 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11994
    physical disorder 2304
      congenital heart disease 965
        Isolated Noncompaction of the Ventricular Myocardium 91
          left ventricular noncompaction 90
            Left Ventricular Noncompaction 8 49
Path 2
Term Annotations click to browse term
  disease 11994
    Developmental Diseases 8574
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7550
        genetic disease 7134
          monogenic disease 5283
            X-linked monogenic disease 843
              Isolated Noncompaction of the Ventricular Myocardium 91
                left ventricular noncompaction 90
                  Left Ventricular Noncompaction 8 49
paths to the root