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Term:aortic valve disease 1
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Accession:DOID:0080333 term browser browse the term
Definition:A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34. (DO)
Synonyms:exact_synonym: AORTIC STENOSIS, CALCIFIC;   AORTIC VALVE, CALCIFICATION OF;   AOVD1;   BAV;   BICUSPID AORTIC VALVE;   calcific aortic valve disease
 primary_id: MESH:C563178
 alt_id: DOID:9007201;   OMIM:109730;   RDO:0012547
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aortic valve disease 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col5a1 collagen type V alpha 1 chain JBrowse link 3 6,430,180 6,581,010 RGD:8554872
G Enpp1 ectonucleotide pyrophosphatase/phosphodiesterase 1 JBrowse link 1 21,748,201 21,813,205 RGD:12914785
G Gata5 GATA binding protein 5 JBrowse link 3 175,701,278 175,709,465 RGD:8554872
G Il6 interleukin 6 JBrowse link 4 3,043,231 3,047,807 RGD:12792206
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:1580758
G Smad6 SMAD family member 6 JBrowse link 8 68,897,746 68,967,221 RGD:8554872
G Tbx20 T-box 20 JBrowse link 8 25,849,394 25,904,570 RGD:8554872

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Path 1
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  disease 15036
    Developmental Diseases 7870
      congenital heart disease 748
        aortic valve disease 1 7
Path 2
Term Annotations click to browse term
  disease 15036
    disease of anatomical entity 14171
      cardiovascular system disease 4072
        heart disease 2238
          heart valve disease 327
            aortic valve disease 239
              bicuspid aortic valve disease 18
                aortic valve disease 1 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.