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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 9430015G10Rik RIKEN cDNA 9430015G10 gene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:156,109,998...156,127,265
Ensembl chr 4:156,109,982...156,127,265
JBrowse link
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 4:155,891,875...155,907,251
Ensembl chr 4:155,891,822...155,907,251
JBrowse link
G Actrt2 actin-related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:154,666,428...154,667,867
Ensembl chr 4:154,666,433...154,667,867
JBrowse link
G Agrn agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:156,165,290...156,197,533
Ensembl chr 4:156,165,290...156,197,488
JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,790,975...155,799,676
Ensembl chr 4:155,790,439...155,799,503
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 4:155,740,640...155,761,124
Ensembl chr 4:155,740,641...155,761,093
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 4:155,831,269...155,833,098
Ensembl chr 4:155,831,272...155,833,130
JBrowse link
G B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,989,466...155,992,678
Ensembl chr 4:155,989,466...155,992,649
JBrowse link
G C1qtnf12 C1q and tumor necrosis factor related 12 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,962,312...155,966,629
Ensembl chr 4:155,962,318...155,966,629
JBrowse link
G Ccnl2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,810,219...155,824,543
Ensembl chr 4:155,812,489...155,824,543
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,624,841...155,649,935
Ensembl chr 4:155,624,854...155,649,938
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 4:155,392,099...155,466,823
Ensembl chr 4:155,409,190...155,466,823
JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,864,723...155,869,440
Ensembl chr 4:155,864,723...155,869,440
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,847,402...155,859,303
Ensembl chr 4:155,847,402...155,859,303
JBrowse link
G Faap20 Fanconi anemia core complex associated protein 20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,246,904...155,256,687
Ensembl chr 4:155,249,802...155,256,687
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 4:155,694,342...155,696,485
Ensembl chr 4:155,694,342...155,696,481
JBrowse link
G Gabrd gamma-aminobutyric acid (GABA) A receptor, subunit delta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,384,979...155,398,098
Ensembl chr 4:155,384,980...155,398,112
JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,491,300...155,559,269
Ensembl chr 4:155,491,361...155,559,269
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 4:154,960,626...154,962,372
Ensembl chr 4:154,960,923...154,962,371
JBrowse link
G Ints11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,869,547...155,889,103
Ensembl chr 4:155,869,546...155,889,103
JBrowse link
G Mib2 mindbomb E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,654,468...155,669,254
Ensembl chr 4:155,654,677...155,669,198
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:156,054,896...156,054,985
Ensembl chr 4:156,054,896...156,054,985
JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:156,055,681...156,055,750
Ensembl chr 4:156,055,681...156,055,750
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:156,053,905...156,053,987
Ensembl chr 4:156,053,905...156,053,987
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:154,869,585...154,895,530
Ensembl chr 4:154,869,585...154,895,528
JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,650,655...155,654,539
Ensembl chr 4:155,650,655...155,653,384
JBrowse link
G Morn1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,083,643...155,145,507
Ensembl chr 4:155,086,577...155,145,505
JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,802,878...155,808,831
Ensembl chr 4:155,802,878...155,809,975
JBrowse link
G Mxra8 matrix-remodelling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,839,680...155,844,102
Ensembl chr 4:155,839,680...155,844,088
JBrowse link
G Nadk NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,562,381...155,591,001
Ensembl chr 4:155,562,378...155,591,001
JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:154,964,123...154,980,940
Ensembl chr 4:154,964,123...154,980,938
JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,067,030...155,072,406
Ensembl chr 4:155,067,016...155,072,433
JBrowse link
G Plch2 phospholipase C, eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:154,983,115...155,064,091
Ensembl chr 4:154,983,115...155,056,784
JBrowse link
G Prdm16 PR domain containing 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 4:154,316,122...154,637,360
Ensembl chr 4:154,316,125...154,636,873
JBrowse link
G Prkcz protein kinase C, zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,260,118...155,361,428
Ensembl chr 4:155,260,129...155,361,361
JBrowse link
G Prxl2b peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:154,896,430...154,899,043
Ensembl chr 4:154,895,504...154,899,135
JBrowse link
G Pusl1 pseudouridylate synthase-like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,888,857...155,891,858
Ensembl chr 4:155,887,879...155,891,781
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 4:155,074,109...155,086,371
Ensembl chr 4:155,074,110...155,086,382
JBrowse link
G Rnf223 ring finger 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:156,130,515...156,133,417
Ensembl chr 4:156,130,513...156,133,420
JBrowse link
G Sdf4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,992,843...156,013,610
Ensembl chr 4:155,992,872...156,013,610
JBrowse link
G Ski ski sarcoma viral oncogene homolog (avian) ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,154,075...155,222,535
Ensembl chr 4:155,154,075...155,222,592
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 4:155,601,416...155,623,340
Ensembl chr 4:155,601,416...155,623,340
JBrowse link
G Ssu72 Ssu72 RNA polymerase II CTD phosphatase homolog (yeast) ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,704,815...155,733,879
Ensembl chr 4:155,704,800...155,733,879
JBrowse link
G Tas1r3 taste receptor, type 1, member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,859,268...155,863,353
Ensembl chr 4:155,859,268...155,863,362
JBrowse link
G Tmem240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,734,804...155,740,564
Ensembl chr 4:155,734,800...155,740,564
JBrowse link
G Tmem52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,469,114...155,470,858
Ensembl chr 4:155,469,114...155,470,858
JBrowse link
G Tmem88b transmembrane protein 88B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,781,591...155,785,874
Ensembl chr 4:155,781,591...155,785,874
JBrowse link
G Tnfrsf14 tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:154,918,487...154,928,620
Ensembl chr 4:154,921,933...154,928,563
JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:156,026,322...156,028,894
Ensembl chr 4:156,026,164...156,028,895
JBrowse link
G Tnfrsf4 tumor necrosis factor receptor superfamily, member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:156,013,595...156,016,613
Ensembl chr 4:156,013,843...156,016,612
JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:154,837,308...154,867,125
Ensembl chr 4:154,837,459...154,867,127
JBrowse link
G Ttll10 tubulin tyrosine ligase-like family, member 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:156,034,835...156,050,817
Ensembl chr 4:156,034,840...156,059,414
JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2J 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 4:155,943,813...155,959,604
Ensembl chr 4:155,943,831...155,959,604
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 4:155,768,495...155,774,693
Ensembl chr 4:155,768,149...155,774,698
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13465
    physical disorder 2477
      congenital heart disease 1061
        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 13465
    Developmental Diseases 9468
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8289
        genetic disease 7839
          monogenic disease 5724
            X-linked monogenic disease 926
              Isolated Noncompaction of the Ventricular Myocardium 100
                left ventricular noncompaction 99
                  Left Ventricular Noncompaction 8 54
paths to the root