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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.

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 6:63,579,291...63,593,429
Ensembl chr 6:63,579,302...63,593,464 		JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774 		JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,311 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,678,757...63,686,409 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 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112 		JBrowse link
G C1QTNF12 C1q and TNF related 12 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332 		JBrowse link
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,970,359...63,971,973 JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,061 		JBrowse link
G CDK11B cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,804,914...63,819,960 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 6:63,976,011...64,038,899
Ensembl chr 6:63,976,011...64,026,767 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,607,991...63,612,325 JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,629,229 		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 6:64,160,760...64,169,663 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 6:63,762,059...63,765,483 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 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,155...63,924,535 		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 6:64,409,110...64,410,541
Ensembl chr 6:64,409,115...64,411,006 		JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,922 		JBrowse link
G LOC100525876 ATPase family AAA domain-containing protein 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,572 		JBrowse link
G LOC100624218 MORN repeat-containing protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897 		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 6:63,787,200...63,800,425
Ensembl chr 6:63,787,200...63,800,505 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,436,778...64,470,888
Ensembl chr 6:64,432,191...64,472,712 		JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,753...63,675,839 		JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,937...63,635,457 		JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,846,650...63,864,137 JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,100...64,407,449 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,311,743...64,317,693 JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,951...64,392,159 		JBrowse link
G PRDM16 PR/SET domain 16 ISO OMIM NCBI chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,468...65,012,575 		JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,575...64,163,472 		JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320 		JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,888...63,600,857 		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 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,784 		JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,069...63,444,745 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,568,171...63,578,623 JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,545,235 		JBrowse link
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,029...64,241,556 		JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561 		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 6:63,728,318...63,757,460 JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,989...63,617,820 		JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,728,663 		JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286 		JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,689,297 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,516,037...63,519,323 JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,846...63,526,666 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,402...64,499,986 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,494,759...63,513,884
Ensembl chr 6:63,494,699...63,511,636 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 6:63,556,134...63,568,080
Ensembl chr 6:63,556,139...63,727,722 		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 6:63,695,195...63,700,296
Ensembl chr 6:63,695,170...63,700,287 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12682
    physical disorder 2346
      congenital heart disease 989
        Isolated Noncompaction of the Ventricular Myocardium 94
          left ventricular noncompaction 93
            Left Ventricular Noncompaction 8 51
Path 2
Term Annotations click to browse term
  disease 12682
    Developmental Diseases 8987
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7859
        genetic disease 7426
          monogenic disease 5461
            X-linked monogenic disease 892
              Isolated Noncompaction of the Ventricular Myocardium 94
                left ventricular noncompaction 93
                  Left Ventricular Noncompaction 8 51
paths to the root