NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Cardiovascular Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.020 Biomarker group BEFREE Here, we demonstrate that telomere shortening in NOTCH1-haploinsufficient mice is sufficient to elicit age-dependent cardiovascular disease involving premature calcification of the aortic valve, a phenotype that closely mimics human disease caused by NOTCH1 haploinsufficiency. 28346225 2017
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.020 Biomarker group BEFREE BAV is inheritable, with a demonstrated association with Notch1, a member of the Notch intercellular signaling pathway that is implicated in various cardiovascular disorders. 22370592 2013