Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) 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 Poster 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:Left Ventricular Noncompaction 8
go back to main search page
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.

show annotations for term's descendants           Sort by:
 
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 chr 5:173,340,060...173,354,756
Ensembl chr 5:173,340,060...173,354,755 		JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,077,290...172,078,690
Ensembl chr 5:172,077,282...172,078,760 		JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,589,910...173,622,813
Ensembl chr 5:173,589,819...173,622,645 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,237,642...173,239,899
Ensembl chr 5:173,237,642...173,239,899 		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 5:173,189,590...173,209,809
Ensembl chr 5:173,189,592...173,209,768 		JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,274,433...173,276,170
Ensembl chr 5:173,256,637...173,276,169 		JBrowse link
G B3galt6 Beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,423,475...173,425,611
Ensembl chr 5:173,423,475...173,425,611 		JBrowse link
G C1qtnf12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,390,901...173,395,276
Ensembl chr 5:173,390,901...173,395,276 		JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,256,301...173,268,279
Ensembl chr 5:173,256,637...173,276,169 		JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,051,900...173,078,049
Ensembl chr 5:173,052,063...173,078,046 		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 5:172,817,221...172,884,996
Ensembl chr 5:172,825,072...172,858,053 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,314,219...173,318,384
Ensembl chr 5:173,314,228...173,318,313 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945 		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 5:172,648,171...172,655,576
Ensembl chr 5:172,648,950...172,655,576 		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 5:173,139,345...173,141,564 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 5:172,797,478...172,809,374
Ensembl chr 5:172,797,450...172,809,353 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986 		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 5:172,364,421...172,365,188
Ensembl chr 5:172,364,421...172,365,188 		JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,318,435...173,336,930
Ensembl chr 5:173,318,479...173,336,930 		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 5:173,082,943...173,099,353
Ensembl chr 5:173,082,943...173,098,816 		JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,489,366...173,489,454 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,490,144...173,490,238
Ensembl chr 5:173,490,144...173,490,238 		JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,488,331...173,488,415
Ensembl chr 5:173,488,331...173,488,415 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,273,450...172,303,905
Ensembl chr 5:172,273,459...172,304,225 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,078,811...173,082,834
Ensembl chr 5:173,078,590...173,081,839 		JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,489,160...172,547,102
Ensembl chr 5:172,488,708...172,547,058 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,248,245...173,252,775
Ensembl chr 5:173,248,245...173,252,775 		JBrowse link
G Mxra8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,288,200...173,292,926
Ensembl chr 5:173,288,447...173,292,929 		JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,984,930...173,015,505
Ensembl chr 5:172,986,291...173,015,494 		JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,367,593...172,384,077
Ensembl chr 5:172,367,398...172,384,269 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,469,978...172,475,144
Ensembl chr 5:172,469,978...172,475,144 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,386,400...172,455,965
Ensembl chr 5:172,388,598...172,424,081 		JBrowse link
G Prdm16 PR/SET domain 16 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8
ClinVar Annotator: match by OMIM:615373		 OMIM
ClinVar		 PMID:23768516 PMID:24033266 PMID:24140581 PMID:24387995 PMID:25741868 PMID:26350513 PMID:27535533 PMID:28492532 PMID:28798025 PMID:29367541 PMID:31333075 PMID:31568572 NCBI chr 5:171,662,277...171,711,561
Ensembl chr 5:171,662,277...171,710,316 		JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,658,071...172,769,492
Ensembl chr 5:172,658,748...172,769,421 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,304,799...172,307,402
Ensembl chr 5:172,304,758...172,307,431 		JBrowse link
G Pusl1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,326,755...173,339,934
Ensembl chr 5:173,336,034...173,340,026 		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 5:172,476,746...172,488,822
Ensembl chr 5:172,476,747...172,488,822 		JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,542,058...173,559,761
Ensembl chr 5:173,542,358...173,559,761 		JBrowse link
G Rnf223 ring finger protein 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,561,016...173,566,844 JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,425,922...173,444,478
Ensembl chr 5:173,425,907...173,444,620 		JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899 		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 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194 		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 5:173,152,964...173,182,720
Ensembl chr 5:173,152,964...173,182,719 		JBrowse link
G Tas1r3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,307,325...173,312,950
Ensembl chr 5:173,308,870...173,312,023 		JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,182,815...173,189,683
Ensembl chr 5:173,183,990...173,188,924 		JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,887,587...172,889,349
Ensembl chr 5:172,887,217...172,889,383 		JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,230,364...173,233,188
Ensembl chr 5:173,230,364...173,233,188 		JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,328,259...172,337,221
Ensembl chr 5:172,328,262...172,335,892 		JBrowse link
G Tnfrsf18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,459,371...173,463,980
Ensembl chr 5:173,460,354...173,463,140 		JBrowse link
G Tnfrsf4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,447,784...173,450,474
Ensembl chr 5:173,447,784...173,450,474 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:172,253,257...172,271,056
Ensembl chr 5:172,259,520...172,269,213 		JBrowse link
G Ttll10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,471,020...173,517,783
Ensembl chr 5:173,471,010...173,484,986 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2, J2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 5:173,372,659...173,387,084
Ensembl chr 5:173,372,669...173,387,104 		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 5:173,216,737...173,221,923
Ensembl chr 5:173,216,741...173,222,440 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital heart disease 1057
        Isolated Noncompaction of the Ventricular Myocardium 100
          left ventricular noncompaction 99
            Left Ventricular Noncompaction 8 54
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            X-linked monogenic disease 929
              Isolated Noncompaction of the Ventricular Myocardium 100
                left ventricular noncompaction 99
                  Left Ventricular Noncompaction 8 54
paths to the root