NOTCH1, notch 1, 4851

N. diseases: 389; N. variants: 34
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
0.630 GeneticVariation disease BEFREE Here, we utilized human induced pluripotent stem cell (iPSC)-derived endothelial cells (ECs) to show that heterozygous nonsense mutations in NOTCH1 that cause aortic valve calcification disrupt the epigenetic architecture, resulting in derepression of latent pro-osteogenic and -inflammatory gene networks. 25768904 2015
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
0.630 GeneticVariation disease 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
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
0.630 Biomarker disease BEFREE The NOTCH signaling pathway was linked to a molecular pathway for aortic valve calcification, as NOTCH1 was found to repress activation of Runx2 - a transcription factor critical for osteoblast cell fate that is up-regulated in calcified human aortic valves. 16601454 2006
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
0.630 Biomarker disease CTD_human Mutations in NOTCH1 cause aortic valve disease. 16025100 2005
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
0.630 GermlineCausalMutation disease ORPHANET
CUI: C0428791
Disease: Aortic valve calcification
Aortic valve calcification
0.630 Biomarker disease HPO