NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Congenital aneurysm of ascending aorta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		0.300 Biomarker disease GENOMICS_ENGLAND Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 16729972 2006