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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 1
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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.


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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 chr13:12,269,426...12,340,732
Ensembl chr13:12,269,426...12,340,760
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 NCBI chr18:23,310,006...23,659,719
Ensembl chr18:23,415,135...23,659,715
JBrowse link
G Jup junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr11:100,368,856...100,397,839
Ensembl chr11:100,368,958...100,397,763
JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:34,526,699...34,590,314
Ensembl chr14:34,526,603...34,588,682
JBrowse link
G Myh6 myosin, heavy polypeptide 6, cardiac muscle, alpha 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 chr14:54,941,921...54,968,017
Ensembl chr14:54,941,921...54,966,927
JBrowse link
G Mypn myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:63,115,795...63,203,952
Ensembl chr10:63,115,795...63,203,952
JBrowse link
G Pkp2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr16:16,213,345...16,272,712
Ensembl chr16:16,213,318...16,272,712
JBrowse link
G Scn5a sodium channel, voltage-gated, type V, alpha ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 NCBI chr 9:119,483,404...119,579,030
Ensembl chr 9:119,483,408...119,579,016
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 1 8
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 1 8
paths to the root