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aortic valve disease 2 - Ontology Report - Rat Genome Database

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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;   bicommissural aortic valve
 related_synonym: aortic valve stenosis
 primary_id: MIM:614823

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aortic valve disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fto FTO, alpha-ketoglutarate dependent dioxygenase sexual_dimorphism ISO DNA:SNP: :rs9939609 (human) RGD PMID:26431034 RGD:11251377 NCBI chr19:31,456,749...31,865,011
Ensembl chr19:15,349,696...15,692,083 		JBrowse link
G Lmna lamin A/C ISO protein:decreased expression:aorta wall, nucleus (human) RGD PMID:24560417 RGD:12791292 NCBI chr 2:176,237,564...176,265,301
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 chr19:30,327,643...30,355,856
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 chr10:16,844,888...16,851,458
Ensembl chr10:16,344,159...16,346,934 		JBrowse link
G Smad3 SMAD family member 3 ISO ClinVar Annotator: match by term: Aortic valve disease 2 ClinVar PMID:28492532 NCBI chr 8:73,022,204...73,132,324
Ensembl chr 8:64,110,039...64,236,960 		JBrowse link
G Smad6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 2 ClinVar
OMIM		 PMID:9536098 PMID:10655064 PMID:16199547 PMID:17576681 PMID:22275001 More... NCBI chr 8:73,345,457...73,414,985
Ensembl chr 8:64,450,114...64,519,763 		JBrowse link
G Tbx3 T-box transcription factor 3 ISO ClinVar Annotator: match by term: Aortic valve disease 2 ClinVar PMID:28492532 PMID:33930582 NCBI chr12:42,540,378...42,555,490
Ensembl chr12:36,881,445...36,893,708 		JBrowse link
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Aortic valve disease 2 ClinVar PMID:2070544 PMID:8911604 PMID:8988164 PMID:8988165 PMID:9536098 More... NCBI chr12:42,342,926...42,399,723
Ensembl chr12:36,688,014...36,734,885 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        genetic disease 13391
          monogenic disease 10964
            autosomal genetic disease 10452
              autosomal dominant disease 6794
                aortic valve disease 2 8
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      respiratory system disease 5243
        thoracic disease 4046
          heart disease 3473
            heart valve disease 542
              aortic valve disease 388
                bicuspid aortic valve disease 22
                  aortic valve disease 2 8
paths to the root