Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 1:46,883...62,642
Ensembl chr 1:1,249,719...1,259,645
JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,680,590...1,682,020
Ensembl chr 1:2,818,917...2,820,050
JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 Ensembl chr 1:936,000...966,808 JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:174,353...177,846 JBrowse link
G ATAD3B ATPase family AAA domain containing 3B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:230,464...269,069 JBrowse link
G ATAD3C ATPase family AAA domain containing 3C ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:209,176...227,683
Ensembl chr 1:1,407,391...1,425,563
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 1:129,234...130,866
Ensembl chr 1:1,329,414...1,331,203
JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532
G CALML6 calmodulin like 6 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:619,689...623,308
Ensembl chr 1:1,778,101...1,780,581
JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:142,530...155,377
Ensembl chr 1:1,344,346...1,355,361
JBrowse link
G CDK11B cyclin dependent kinase 11B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:399,997...423,094 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 1:627,950...715,982
Ensembl chr 1:1,785,550...1,856,062
JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:81,942...86,035
Ensembl chr 1:1,281,979...1,285,620
JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 Ensembl chr 1:997,350...1,034,180 JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:92,469...106,748
Ensembl chr 1:1,292,052...1,301,008
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 1:900,616...922,845 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 1:359,080...361,223 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 1:731,714...743,165
Ensembl chr 1:1,883,955...1,895,102
JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
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 1:1,261,260...1,263,128 JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:66,280...81,854
Ensembl chr 1:1,266,581...1,281,430
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 1:379,326...395,041
Ensembl chr 1:1,539,634...1,557,517
JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,323,914...1,362,178
Ensembl chr 1:2,462,621...2,504,213
JBrowse link
G MMP23B matrix metallopeptidase 23B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:396,629...399,103
Ensembl chr 1:1,554,922...1,557,325
JBrowse link
G MORN1 MORN repeat containing 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,040,735...1,109,847
Ensembl chr 1:2,185,815...2,257,031
JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:157,984...163,411
Ensembl chr 1:1,358,009...1,363,014
JBrowse link
G MXRA8 matrix remodeling associated 8 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:109,071...117,378 JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:462,860...485,203
Ensembl chr 1:1,619,270...1,642,269
JBrowse link
G PANK4 pantothenate kinase 4 (inactive) ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,238,821...1,259,139
Ensembl chr 1:2,378,116...2,395,738
JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,171,623...1,235,592
Ensembl chr 1:2,337,005...2,374,695
JBrowse link
G PRDM16 PR/SET domain 16 ISO OMIM NCBI chr 1:1,730,122...2,100,636
Ensembl chr 1:2,981,667...3,234,251
JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:763,942...901,531
Ensembl chr 1:1,920,219...2,045,855
JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,319,718...1,324,409 JBrowse link
G PUSL1 pseudouridine synthase like 1 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:63,263...66,360
Ensembl chr 1:1,263,656...1,266,661
JBrowse link
G RNF223 ring finger protein 223 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532
G SCNN1D sodium channel epithelial 1 subunit delta ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:35,437...46,538
Ensembl chr 1:1,238,512...1,247,649
JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532
G SKI SKI proto-oncogene ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:944,428...1,029,695
Ensembl chr 1:2,091,620...2,174,080
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 1:429,954...458,052
Ensembl chr 1:1,581,352...1,613,835
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 1:301,984...335,634
Ensembl chr 1:1,463,184...1,494,797
JBrowse link
G TAS1R3 taste 1 receptor member 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:88,514...92,505
Ensembl chr 1:1,287,841...1,292,094
JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:295,102...301,161
Ensembl chr 1:1,456,731...1,462,005
JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:623,603...626,169
Ensembl chr 1:1,780,877...1,782,570
JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:181,849...185,020 JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,288,493...1,296,532
Ensembl chr 1:2,427,631...2,435,615
JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532
G TNFRSF4 TNF receptor superfamily member 4 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 Ensembl chr 1:1,168,935...1,171,337 JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:1,374,206...1,454,684 JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 Ensembl chr 1:1,131,691...1,155,349 JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 8 ClinVar PMID:28492532 NCBI chr 1:8,756...28,672
Ensembl chr 1:1,211,502...1,231,530
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 1:192,970...198,099 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12807
    physical disorder 2364
      congenital heart disease 995
        Isolated Noncompaction of the Ventricular Myocardium 95
          left ventricular noncompaction 94
            Left Ventricular Noncompaction 8 51
Path 2
Term Annotations click to browse term
  disease 12807
    Developmental Diseases 9074
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7918
        genetic disease 7481
          monogenic disease 5526
            X-linked monogenic disease 919
              Isolated Noncompaction of the Ventricular Myocardium 95
                left ventricular noncompaction 94
                  Left Ventricular Noncompaction 8 51
paths to the root