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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 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631 		JBrowse link
G DTNA dystrobrevin alpha IAGP 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 chr18:34,493,298...34,891,844
Ensembl chr18:34,493,290...34,891,844 		JBrowse link
G JUP junction plakoglobin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:41,754,608...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G LDB3 LIM domain binding 3 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:86,666,788...86,736,072
Ensembl chr10:86,668,507...86,736,072
Ensembl chr10:86,668,507...86,736,072 		JBrowse link
G LOC110121486 VISTA enhancer hs2143 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:86,684,072...86,689,569 JBrowse link
G MYH6 myosin heavy chain 6 IAGP 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 chr14:23,381,987...23,408,273
Ensembl chr14:23,381,982...23,408,273 		JBrowse link
G MYPN myopalladin IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:68,087,907...68,212,017
Ensembl chr10:68,106,117...68,212,017 		JBrowse link
G PKP2 plakophilin 2 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:32,790,755...32,896,777
Ensembl chr12:32,790,745...32,896,840
Ensembl chr12:32,790,745...32,896,840 		JBrowse link
G SCN5A sodium voltage-gated channel alpha subunit 5 IAGP ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 NCBI chr 3:38,548,061...38,649,687
Ensembl chr 3:38,548,057...38,649,687
Ensembl chr 3:38,548,057...38,649,687 		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 1 9
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 1 9
paths to the root