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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_004955486:9,495,087...9,508,047
Ensembl chrNW_004955486:9,495,186...9,508,214
JBrowse link
G Actrt2 actin related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:8,465,523...8,466,841
Ensembl chrNW_004955486:8,465,620...8,466,744
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,674,103...9,704,994
Ensembl chrNW_004955486:9,675,214...9,704,991
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,383,502...9,384,519 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_004955486:9,437,511...9,438,945
Ensembl chrNW_004955486:9,437,958...9,438,857
JBrowse link
G B3galt6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,553,765...9,555,675
Ensembl chrNW_004955486:9,554,435...9,555,459
JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,541,466...9,545,231
Ensembl chrNW_004955486:9,541,367...9,547,097
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,423,491...9,432,811
Ensembl chrNW_004955486:9,423,491...9,432,811
JBrowse link
G Cdk11b cyclin dependent kinase 11B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,251,242...9,270,218 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_004955486:9,056,836...9,107,572
Ensembl chrNW_004955486:9,057,030...9,107,600
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,475,520...9,478,925
Ensembl chrNW_004955486:9,475,520...9,478,925
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,464,390...9,469,984
Ensembl chrNW_004955486:9,464,313...9,469,984
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_004955486:8,938,352...8,944,631 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_004955486:9,301,802...9,303,246 JBrowse link
G Gabrd gamma-aminobutyric acid type A receptor delta subunit ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,035,330...9,039,553
Ensembl chrNW_004955486:9,035,330...9,039,557
JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,165,850...9,192,306
Ensembl chrNW_004955486:9,165,850...9,193,066
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_004955486:8,700,212...8,701,581
Ensembl chrNW_004955486:8,700,162...8,701,748
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,479,057...9,491,629
Ensembl chrNW_004955486:9,479,057...9,491,629
JBrowse link
G LOC102003555 chromosome unknown open reading frame, human C1orf159 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,632,940...9,659,682 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_004955486:9,273,580...9,285,682
Ensembl chrNW_004955486:9,271,099...9,285,682
JBrowse link
G Mmel1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:8,635,727...8,662,793
Ensembl chrNW_004955486:8,638,233...8,663,053
JBrowse link
G Mmp23b matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,270,588...9,272,310
Ensembl chrNW_004955486:9,270,484...9,272,420
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:8,802,800...8,850,635
Ensembl chrNW_004955486:8,802,975...8,850,445
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,417,925...9,420,789 JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,452,707...9,456,640 JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,191,923...9,217,547
Ensembl chrNW_004955486:9,191,923...9,217,538
JBrowse link
G Pank4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:8,703,236...8,716,017
Ensembl chrNW_004955486:8,702,909...8,716,377
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:8,785,199...8,801,914
Ensembl chrNW_004955486:8,785,174...8,791,247
JBrowse link
G Plch2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:8,717,799...8,785,144
Ensembl chrNW_004955486:8,718,155...8,775,228
JBrowse link
G Prdm16 PR/SET domain 16 ISO OMIM NCBI chrNW_004955486:8,139,848...8,327,788
Ensembl chrNW_004955486:8,137,531...8,327,977
JBrowse link
G Prkcz protein kinase C zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:8,947,579...9,021,702
Ensembl chrNW_004955486:8,947,579...9,021,702
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:8,663,708...8,666,369
Ensembl chrNW_004955486:8,663,595...8,666,469
JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,491,613...9,494,746
Ensembl chrNW_004955486:9,491,506...9,494,520
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_004955486:8,791,457...8,802,691
Ensembl chrNW_004955486:8,791,457...8,802,691
JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,658,706...9,665,467
Ensembl chrNW_004955486:9,662,186...9,665,467
JBrowse link
G Scnn1d sodium channel epithelial 1 delta subunit ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,508,435...9,514,107 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,555,773...9,565,310
Ensembl chrNW_004955486:9,555,364...9,567,340
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:8,857,693...8,921,821
Ensembl chrNW_004955486:8,857,693...8,921,821
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_004955486:9,317,078...9,338,414
Ensembl chrNW_004955486:9,317,078...9,338,414
JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,469,954...9,475,421
Ensembl chrNW_004955486:9,470,626...9,473,780
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,339,489...9,344,025
Ensembl chrNW_004955486:9,339,479...9,344,025
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,107,254...9,111,006
Ensembl chrNW_004955486:9,109,431...9,110,668
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,376,707...9,379,315
Ensembl chrNW_004955486:9,376,707...9,379,315
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:8,670,182...8,684,677 JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,571,527...9,573,733 JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,565,424...9,569,836
Ensembl chrNW_004955486:9,567,220...9,569,676
JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:8,620,609...8,633,069
Ensembl chrNW_004955486:8,620,516...8,631,399
JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,576,174...9,589,297 JBrowse link
G Ube2j2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chrNW_004955486:9,519,467...9,539,666
Ensembl chrNW_004955486:9,524,459...9,540,562
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_004955486:9,365,920...9,369,117
Ensembl chrNW_004955486:9,366,796...9,369,115
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11866
    physical disorder 2288
      congenital heart disease 959
        Isolated Noncompaction of the Ventricular Myocardium 92
          left ventricular noncompaction 91
            Left Ventricular Noncompaction 8 50
Path 2
Term Annotations click to browse term
  disease 11866
    Developmental Diseases 8479
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7455
        genetic disease 7047
          monogenic disease 5213
            X-linked monogenic disease 814
              Isolated Noncompaction of the Ventricular Myocardium 92
                left ventricular noncompaction 91
                  Left Ventricular Noncompaction 8 50
paths to the root