Send us a Message

Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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:Diastolic Dysfunction
go back to main search page
Accession:DOID:9003631 term browser browse the term

show annotations for term's descendants           Sort by:
Diastolic Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acacb acetyl-CoA carboxylase beta ISO RGD PMID:27693463 RGD:329955570 NCBI chr12:42,365,800...42,477,651
Ensembl chr12:42,366,548...42,457,655
JBrowse link
G Ndufb5 NADH:ubiquinone oxidoreductase subunit B5 IEP associated with obesity;mRNA, protein:decreased expression:myocardium RGD PMID:26790384 RGD:13801193 NCBI chr 2:115,519,248...115,533,589
Ensembl chr 2:115,519,154...115,533,589
JBrowse link
G Ryr2 ryanodine receptor 2 ISO ClinVar Annotator: match by term: Diastolic dysfunction ClinVar PMID:25741868 PMID:28492532 NCBI chr17:58,389,925...58,975,641
Ensembl chr17:58,389,925...58,975,142
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Diastolic dysfunction ClinVar NCBI chr 3:61,652,432...61,924,912
Ensembl chr 3:61,652,439...61,924,741
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      cardiovascular system disease 5367
        Diastolic Dysfunction 8
paths to the root