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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:Atrial Dilation and Standstill
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Accession:DOID:9002195 term browser browse the term
Synonyms:exact_synonym: atrial dilated cardiomyopathy with atrial standstill
 related_synonym: atrial standstill



show annotations for term's descendants           Sort by:
Atrial Dilation and Standstill term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl4 myosin, light chain 4 susceptibility ISO DNA:missense mutation:cds (c.31G>A, p.E11K) (human) RGD PMID:29080865 RGD:40902867 NCBI chr10:89,949,733...89,985,308 JBrowse link
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: CARDIOMYOPATHY, ATRIAL DILATED, WITH ATRIAL STANDSTILL ClinVar PMID:19646991 PMID:22818067 PMID:23275345 PMID:23838598 PMID:25410959 More... NCBI chr 5:163,712,184...163,713,493 JBrowse link
atrial standstill 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja5 gap junction protein, alpha 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Atrial standstill 1 | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL, WITH CONDUCTION DISTURBANCE
OMIM
CTD
ClinVar
PMID:9588401 PMID:16790700 PMID:20818502 PMID:21921585 PMID:22199024 More... NCBI chr 2:187,291,227...187,310,770 JBrowse link
G Nppa natriuretic peptide A ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:163,712,184...163,713,493 JBrowse link
G Scn5a sodium voltage-gated channel alpha subunit 5 ISO ClinVar Annotator: match by term: Atrial standstill 1, digenic ClinVar PMID:3953067 PMID:12522116 PMID:15466643 PMID:15671429 PMID:15998690 More... NCBI chr 8:128,098,613...128,196,515 JBrowse link
atrial standstill 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nppa natriuretic peptide A ISO ClinVar Annotator: match by term: Atrial standstill 2 | ClinVar Annotator: match by term: NPPA-related condition OMIM
ClinVar
PMID:6225642 PMID:19646991 PMID:22818067 PMID:23275345 PMID:23838598 More... NCBI chr 5:163,712,184...163,713,493 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      thoracic disease 4050
        heart disease 3477
          cardiomyopathy 1430
            Atrial Dilation and Standstill 4
              atrial standstill 1 3
              atrial standstill 2 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      respiratory system disease 5242
        thoracic disease 4050
          heart disease 3477
            cardiomyopathy 1430
              Atrial Dilation and Standstill 4
                atrial standstill 1 3
                atrial standstill 2 1
paths to the root