NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Bicuspid aortic valve ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs557319054
rs557319054
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0149630
Disease:
Bicuspid aortic valve 		0.010 GeneticVariation BEFREE Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 16729972 2006