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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:aortic valve disease 2
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Accession:DOID:0080334 term browser browse the term
Definition:A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22. (DO)
Synonyms:exact_synonym: AOVD2;   aortic valve stenosis;   bicommissural aortic valve
 primary_id: OMIM:614823
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
aortic valve disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO protein:decreased expression:aorta wall, nucleus (human) RGD PMID:24560417 RGD:12791292 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423
JBrowse link
G Mmp2 matrix metallopeptidase 2 ISO protein:increased expression:serum RGD PMID:23615040 RGD:13204802 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Nkx2-5 NK2 homeobox 5 ISO DNA:nonsense mutation:exon:p.K192X (human)
DNA:missense mutations: :p.Q22K, p.R36S, p.E54K (human)
RGD PMID:25438918 PMID:22179962 RGD:12914790, RGD:12914791 NCBI chr10:16,340,428...16,347,004
Ensembl chr10:16,344,159...16,346,934
JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 2
ClinVar Annotator: match by term: AORTIC VALVE STENOSIS
ClinVar Annotator: match by OMIM:614823
OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22275001 PMID:25741868 PMID:27606499 More... NCBI chr 8:64,450,114...64,519,673
Ensembl chr 8:64,450,114...64,519,763
JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Aortic valve disease 2
ClinVar Annotator: match by term: AORTIC VALVE STENOSIS
ClinVar PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:10077612 More... NCBI chr12:36,686,344...36,739,253
Ensembl chr12:36,688,014...36,734,885
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                aortic valve disease 2 5
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      cardiovascular system disease 4514
        vascular disease 3434
          artery disease 2399
            aortic disease 610
              aortic valve disease 296
                bicuspid aortic valve disease 18
                  aortic valve disease 2 5
paths to the root