NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Aortic Valve Disease 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057515423
rs1057515423
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C3887892
Disease:
Aortic Valve Disease 1 		T 0.700 CausalMutation CLINVAR Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 27760138 2016
dbSNP: rs1057515423
rs1057515423
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C3887892
Disease:
Aortic Valve Disease 1 		T 0.700 CausalMutation CLINVAR Mutations in NOTCH1 cause aortic valve disease. 16025100 2005