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 1
go back to main search page
Accession:DOID:9007288 term browser browse the term
Synonyms:exact_synonym: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS;   LVNC1
 primary_id: OMIM:604169
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Left Ventricular Noncompaction 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn2 actinin alpha 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:66,304,530...66,397,647
Ensembl chr17:66,304,501...66,397,653
JBrowse link
G Dtna dystrobrevin, alpha ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar
OMIM
PMID:11238270 PMID:21520333 PMID:23861362 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29118297 PMID:29247119 PMID:30311386 NCBI chr18:14,544,725...14,671,514
Ensembl chr18:14,471,213...14,657,332
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:88,280,517...88,307,451
Ensembl chr10:88,279,632...88,307,412
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:10,878,348...10,943,016
Ensembl chr16:10,878,334...10,941,501
JBrowse link
G Myh6 myosin heavy chain 6 ISO ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS ClinVar PMID:25741868 PMID:27483260 PMID:27789736 PMID:28492532 NCBI chr15:33,605,653...33,629,730
Ensembl chr15:33,605,654...33,629,699
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:26,988,820...27,074,106
Ensembl chr20:26,988,774...27,074,138
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:88,912,163...88,972,213 JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 NCBI chr 8:128,169,191...128,266,681
Ensembl chr 8:128,169,191...128,266,639
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      congenital heart disease 1075
        Isolated Noncompaction of the Ventricular Myocardium 100
          left ventricular noncompaction 99
            Left Ventricular Noncompaction 1 8
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        Congenital Abnormalities 4788
          Cardiovascular Abnormalities 1130
            congenital heart disease 1075
              Isolated Noncompaction of the Ventricular Myocardium 100
                left ventricular noncompaction 99
                  Left Ventricular Noncompaction 1 8
paths to the root