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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 chr 1:212,245,742...212,323,387
Ensembl chr 1:217,272,597...217,321,103
JBrowse link
G DTNA dystrobrevin alpha ISO OMIM NCBI chr18:27,706,576...28,116,328
Ensembl chr18:31,524,255...31,705,386
JBrowse link
G JUP junction plakoglobin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:15,527,115...15,559,251
Ensembl chr17:15,747,163...15,777,479
JBrowse link
G LDB3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:83,095,625...83,164,297
Ensembl chr10:86,654,737...86,722,148
Ensembl chr10:86,654,737...86,722,148
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 chr14:4,200,616...4,226,193
Ensembl chr14:22,294,965...22,321,331
JBrowse link
G MYPN myopalladin ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:64,590,232...64,696,512
Ensembl chr10:66,902,008...67,004,967
JBrowse link
G PKP2 plakophilin 2 ISO ClinVar Annotator: match by term: Left ventricular noncompaction 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:53,322,227...53,428,747
Ensembl chr12:55,925,174...56,030,998
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 3:38,444,421...38,546,364
Ensembl chr 3:38,728,897...38,812,202
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 1 8
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 1 8
paths to the root