NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Calcinosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0006663
Disease: Calcinosis
Calcinosis 		0.300 Biomarker phenotype CTD_human NOTCH1 mutations are associated with aortic valve malformations and adult-onset calcification in families with inherited disease. 22110751 2011