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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 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,292,384...1,307,930
Ensembl chr 1:1,292,390...1,309,609
JBrowse link
G ACTRT2 actin related protein T2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,021,467...3,022,903
Ensembl chr 1:3,021,467...3,022,903
JBrowse link
G AGRN agrin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,020,102...1,056,119
Ensembl chr 1:1,020,120...1,056,118
JBrowse link
G ANKRD65 ankyrin repeat domain 65 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,418,420...1,422,471
Ensembl chr 1:1,418,420...1,421,769
JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,512,143...1,534,686
Ensembl chr 1:1,512,162...1,534,685
JBrowse link
G ATAD3B ATPase family AAA domain containing 3B IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,471,732...1,509,466
Ensembl chr 1:1,471,765...1,497,848
JBrowse link
G ATAD3C ATPase family AAA domain containing 3C IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,449,689...1,470,163
Ensembl chr 1:1,449,689...1,470,163
JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,373,730...1,375,516
Ensembl chr 1:1,373,730...1,375,495
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
JBrowse link
G C1orf159 chromosome 1 open reading frame 159 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,081,823...1,116,089
Ensembl chr 1:1,081,818...1,116,361
JBrowse link
G C1QTNF12 C1q and TNF related 12 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,242,448...1,247,218
Ensembl chr 1:1,242,446...1,246,722
JBrowse link
G CALML6 calmodulin like 6 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,913,751...1,917,296
Ensembl chr 1:1,915,108...1,917,296
JBrowse link
G CCNL2 cyclin L2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,385,711...1,399,336
Ensembl chr 1:1,385,711...1,399,335
JBrowse link
G CDK11A cyclin dependent kinase 11A IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,702,379...1,724,357
Ensembl chr 1:1,702,379...1,724,357
JBrowse link
G CDK11B cyclin dependent kinase 11B IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,635,225...1,659,619
Ensembl chr 1:1,635,227...1,659,012
Ensembl chr 1:1,635,227...1,659,012
JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,921,957...2,003,837
Ensembl chr 1:1,921,951...2,003,837
JBrowse link
G CPTP ceramide-1-phosphate transfer protein IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,324,757...1,328,896
Ensembl chr 1:1,324,756...1,328,896
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G FAAP20 FA core complex associated protein 20 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,184,457...2,212,720
Ensembl chr 1:2,184,461...2,212,720
JBrowse link
G FNDC10 fibronectin type III domain containing 10 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,598,012...1,600,135
Ensembl chr 1:1,598,012...1,600,135
JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758
JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,891,117
JBrowse link
G HES5 hes family bHLH transcription factor 5 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,528,745...2,530,554
Ensembl chr 1:2,528,745...2,530,263
JBrowse link
G INTS11 integrator complex subunit 11 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,311,597...1,324,660
Ensembl chr 1:1,311,585...1,324,691
Ensembl chr 1:1,311,585...1,324,691
JBrowse link
G LOC110120751 VISTA enhancer hs705 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,274,017...3,274,864 JBrowse link
G LOC110121223 VISTA enhancer hs1912 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,345,529...3,349,801 JBrowse link
G LOC112577578 Sharpr-MPRA regulatory region 1148 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,240,945...3,241,239 JBrowse link
G LOC112577579 Sharpr-MPRA regulatory region 11957 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,313,185...3,313,479 JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,613,730...1,630,605
Ensembl chr 1:1,615,415...1,630,610
JBrowse link
G MIR200A microRNA 200a IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952
JBrowse link
G MIR200B microRNA 200b IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198
JBrowse link
G MIR4251 microRNA 4251 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:3,127,975...3,128,035
Ensembl chr 1:3,127,975...3,128,035
JBrowse link
G MIR429 microRNA 429 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087
JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,590,639...2,633,042
Ensembl chr 1:2,590,639...2,633,016
JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,631,681...1,635,638
Ensembl chr 1:1,632,163...1,635,263
JBrowse link
G MORN1 MORN repeat containing 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,321,253...2,391,554
Ensembl chr 1:2,321,253...2,391,707
JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,401,909...1,407,293
Ensembl chr 1:1,401,909...1,407,293
JBrowse link
G MXRA8 matrix remodeling associated 8 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,352,689...1,363,541
Ensembl chr 1:1,352,689...1,361,777
JBrowse link
G NADK NAD kinase IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,751,232...1,780,509
Ensembl chr 1:1,751,232...1,780,457
JBrowse link
G PANK4 pantothenate kinase 4 (inactive) IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,508,537...2,526,622
Ensembl chr 1:2,508,537...2,526,611
Ensembl chr 1:2,508,537...2,526,611
JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797
JBrowse link
G PLCH2 phospholipase C eta 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,412,481...2,505,532
Ensembl chr 1:2,425,980...2,505,532
JBrowse link
G PRDM16 PR/SET domain 16 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar
OMIM
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 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621
JBrowse link
G PRKCZ protein kinase C zeta IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,050,411...2,185,395
Ensembl chr 1:2,050,411...2,185,395
JBrowse link
G PRXL2B peroxiredoxin like 2B IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,586,523...2,591,469
Ensembl chr 1:2,586,491...2,591,469
JBrowse link
G PUSL1 pseudouridine synthase like 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,308,563...1,311,677
Ensembl chr 1:1,308,597...1,311,677
JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,391,841...2,405,436
Ensembl chr 1:2,391,775...2,405,442
JBrowse link
G RNF223 ring finger protein 223 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,070,967...1,074,306
Ensembl chr 1:1,070,967...1,074,306
JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029
JBrowse link
G SDF4 stromal cell derived factor 4 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,216,908...1,232,005
Ensembl chr 1:1,216,908...1,232,067
Ensembl chr 1:1,216,908...1,232,067
JBrowse link
G SKI SKI proto-oncogene IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,228,319...2,310,213
JBrowse link
G SLC35E2A solute carrier family 35 member E2A IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,724,838...1,746,070
Ensembl chr 1:1,724,838...1,745,999
Ensembl chr 1:1,724,838...1,745,999
JBrowse link
G SLC35E2B solute carrier family 35 member E2B IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,659,798...1,692,795
Ensembl chr 1:1,659,529...1,692,795
JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,541,673...1,574,863
Ensembl chr 1:1,541,673...1,574,863
JBrowse link
G TAS1R3 taste 1 receptor member 3 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,331,280...1,335,320
Ensembl chr 1:1,331,280...1,335,314
JBrowse link
G TMEM240 transmembrane protein 240 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624
JBrowse link
G TMEM52 transmembrane protein 52 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,917,591...1,919,279
Ensembl chr 1:1,917,590...1,919,279
JBrowse link
G TMEM88B transmembrane protein 88B IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,425,871...1,430,255
Ensembl chr 1:1,426,128...1,427,787
JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,556,371...2,563,829
Ensembl chr 1:2,555,639...2,565,382
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,203,508...1,207,901
Ensembl chr 1:1,203,508...1,206,592
JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,211,326...1,216,812
Ensembl chr 1:1,211,340...1,214,153
JBrowse link
G TTC34 tetratricopeptide repeat domain 34 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:2,636,988...2,800,868
Ensembl chr 1:2,635,976...2,801,717
JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,173,709...1,197,936
Ensembl chr 1:1,173,880...1,197,936
Ensembl chr 1:1,173,880...1,197,936
JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,253,912...1,273,854
Ensembl chr 1:1,253,909...1,273,885
Ensembl chr 1:1,253,909...1,273,885
JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18950
    physical disorder 2814
      congenital heart disease 1179
        Isolated Noncompaction of the Ventricular Myocardium 118
          left ventricular noncompaction 117
            Left Ventricular Noncompaction 8 65
Path 2
Term Annotations click to browse term
  disease 18950
    Developmental Diseases 12236
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10066
        genetic disease 9560
          monogenic disease 6962
            X-linked monogenic disease 1155
              Isolated Noncompaction of the Ventricular Myocardium 118
                left ventricular noncompaction 117
                  Left Ventricular Noncompaction 8 65
paths to the root