NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Tetralogy of Fallot ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs774966208
rs774966208
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0039685
Disease:
Tetralogy of Fallot 		T 0.700 CausalMutation CLINVAR Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease. 27760138 2016
dbSNP: rs774966208
rs774966208
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0039685
Disease:
Tetralogy of Fallot 		T 0.700 CausalMutation CLINVAR De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. 19597493 2009