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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:Calcification of Aortic Valve
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Accession:DOID:9004397 term browser browse the term
Synonyms:exact_synonym: aortic valve calcification;   calcific aortic stenosis;   calcific aortic valve disease;   calcification of aortic valve
 primary_id: MESH:C562942
 xref: EFO:0005239


show annotations for term's descendants           Sort by:
Calcification of Aortic Valve term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AKT1 AKT serine/threonine kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213
G CD40LG CD40 ligand treatment ISO RGD PMID:24374105 RGD:11352276 NCBI chr  X:111,778,666...111,788,901
Ensembl chr  X:111,778,493...111,789,709 		JBrowse link
G DLL4 delta like canonical Notch ligand 4 ameliorates ISO RGD PMID:22699504 RGD:155641244 NCBI chr 1:130,376,720...130,386,411
Ensembl chr 1:130,376,721...130,386,411 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 severity ISO RGD PMID:15120829 RGD:12910476 NCBI chr15:101,360,355...101,373,498
Ensembl chr15:101,360,094...101,373,526 		JBrowse link
G MEIS2 Meis homeobox 2 ISO mRNA,protein:decreased expression:aortic valve: RGD PMID:30594396 RGD:155598679 NCBI chr 1:134,013,642...134,223,013
Ensembl chr 1:134,013,820...134,223,012 		JBrowse link
G NOTCH1 notch receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16025100
G PTGS2 prostaglandin-endoperoxide synthase 2 disease_progression ISO protein: increased expression: aortic valve: endothelial cells, valvular interstitial cells RGD PMID:25722432 RGD:13207434 NCBI chr 9:127,850,164...127,858,866
Ensembl chr 9:127,850,015...127,858,884 		JBrowse link
G PTH parathyroid hormone disease_progression ISO protein:increased expression:serum (rat) RGD PMID:22634235 RGD:7242900 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415 		JBrowse link
G PTPN1 protein tyrosine phosphatase non-receptor type 1 ISO protein:increased expression:aortic valve (human) RGD PMID:35958694 RGD:401976381 NCBI chr17:52,017,100...52,086,747
Ensembl chr17:52,017,130...52,086,736 		JBrowse link
G SLC20A1 solute carrier family 20 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23308213 NCBI chr 3:43,844,716...43,860,547
Ensembl chr 3:43,844,722...43,860,547 		JBrowse link
G TP53 tumor protein p53 ISO CTD Direct Evidence: marker/mechanism CTD PMID:29358327 NCBI chr12:52,939,643...52,953,786
Ensembl chr12:52,939,644...52,953,818 		JBrowse link
aortic valve disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:25741868 PMID:28074886 PMID:28492532 PMID:30858776 PMID:31903434 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,111 		JBrowse link
G ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 ISO mRNA:increased expression:aorta (rat) RGD PMID:22659116 RGD:12914785 NCBI chr 1:31,724,290...31,796,594
Ensembl chr 1:31,722,721...31,796,595 		JBrowse link
G GATA5 GATA binding protein 5 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28387797 PMID:28492532 PMID:30675029 NCBI chr17:61,824,891...61,834,742
Ensembl chr17:61,824,899...61,834,267 		JBrowse link
G IL6 interleukin 6 severity ISO RGD PMID:23969418 RGD:12792206 NCBI chr 9:91,506,421...91,510,830
Ensembl chr 9:91,506,421...91,511,263 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition OMIM
ClinVar		 PMID:9536098 PMID:15472075 PMID:16025100 PMID:16614245 PMID:16729972 More...
G SMAD6 SMAD family member 6 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:28492532 PMID:30796334 NCBI chr 1:164,652,602...164,735,084
Ensembl chr 1:164,656,887...164,735,704 		JBrowse link
G TBX20 T-box transcription factor 20 ISO ClinVar Annotator: match by term: Aortic valve disease 1 ClinVar PMID:19762328 PMID:25741868 PMID:27510170 PMID:27642787 PMID:28553164 More... NCBI chr18:38,635,603...38,681,690
Ensembl chr18:38,635,617...38,678,133 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15277
    disease of anatomical entity 14911
      cardiovascular system disease 4337
        heart disease 3051
          Ventricular Outflow Obstruction 427
            aortic valve stenosis 342
              Calcification of Aortic Valve 17
                aortic valve disease 1 7
Path 2
Term Annotations click to browse term
  disease 15277
    disease of anatomical entity 14911
      cardiovascular system disease 4337
        vascular disease 3060
          artery disease 2023
            aortic disease 758
              aortic valve disease 364
                aortic valve stenosis 342
                  Calcification of Aortic Valve 17
                    aortic valve disease 1 7
paths to the root