rs761508282, NOTCH1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Aortic valve calcification
CUI: C0428791
Disease: Aortic valve calcification
0.010 GeneticVariation BEFREE Corroborating previous studies, analysis of the single sporadic patient with calcified aortic valve in the presence of ascending aortic aneurysm revealed a novel heterozygous missense mutation in NOTCH1 resulting in a nonsynonymous amino acid substitution (p.T1090S, c.C3269G) of an evolutionarily conserved residue. 23102684 2013
Aneurysm of ascending aorta
CUI: C0856747
Disease: Aneurysm of ascending aorta
0.010 GeneticVariation BEFREE Corroborating previous studies, analysis of the single sporadic patient with calcified aortic valve in the presence of ascending aortic aneurysm revealed a novel heterozygous missense mutation in NOTCH1 resulting in a nonsynonymous amino acid substitution (p.T1090S, c.C3269G) of an evolutionarily conserved residue. 23102684 2013