NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1387329667
rs1387329667
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000768
Disease:
Congenital Abnormality
0.010 GeneticVariation BEFREE An unreported missense mutation (P1964L) in the cytoplasmic domain, segregating with semilunar valve malformation, was maternally inherited and a rare missense mutation (P1256L) in the extracellular domain, clinically silent in the heterozygous state, was paternally inherited. 26164125 2015
dbSNP: rs756434709
rs756434709
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0000768
Disease:
Congenital Abnormality
0.010 GeneticVariation BEFREE We recently identified missense variants in the NOTCH1 receptor in patients with diverse left ventricular outflow tract (LVOT) malformations (NOTCH1(G661S) and NOTCH1(A683T)) that reduce ligand-induced Notch signaling. 20951801 2011