Disease: Bicuspid aortic valve ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.140 Biomarker disease BEFREE Nine genes previously associated with BAV (NOTCH1, AXIN1, EGFR, ENG, GATA5, NKX2-5, NOS3, PDIA2, and TGFBR2) were sequenced in 48 patients with BAV using the Ion Torrent Personal Genome Machine. 26708639 2016
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.140 Biomarker disease BEFREE The purpose of our study was to investigate the potential contribution of germline mutations in NOTCH1, GATA5 and TGFBR1 and TGFBR2 genes in a cohort of Italian patients with familial Bicuspid Aortic Valve (BAV). 23578328 2013
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.140 GeneticVariation disease BEFREE Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection. 21524434 2011
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.140 GeneticVariation disease BEFREE In conclusion, mutations in TGFBR1 and TGFBR2 rarely cause sporadic BAV. 18721526 2008
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		0.140 Biomarker disease HPO