NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 GeneticVariation group 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
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 Biomarker group BEFREE Males with the deletion of β-catenin or Notch1 in the gubernacular ligament demonstrated abnormal development. 21147849 2011
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 GeneticVariation group BEFREE These results suggest that NOTCH1 mutations cause an early developmental defect in the aortic valve and a later de-repression of calcium deposition that causes progressive aortic valve disease. 16025100 2005
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 Biomarker group BEFREE Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects. 17849441 2007
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 GeneticVariation group BEFREE NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. 18593716 2008
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 GeneticVariation group BEFREE In the TOF patients, we found four copy number gains affecting three genes, of which two are important regulators of heart development (NOTCH1, ISL1) and one is located in a region associated with cardiac malformations (PRODH at 22q11). 24400131 2014
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 GeneticVariation group BEFREE This finding was supported by the discovery of a NOTCH1 frameshift mutation in an unrelated family with similar aortic valve disease, suggesting that NOTCH1 haploinsufficiency was a genetic cause of aortic valve malformations and calcification. 16601454 2006
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 GeneticVariation group BEFREE The penetrance is high; a cardiovascular malformation was found in 75% of NOTCH1 mutation carriers. 26820064 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 Biomarker group BEFREE These findings suggest that patient-specific iPS cells may provide molecular insights into complex transcriptional and epigenetic mechanisms, at least in part, through combinatorial expression of NKX2-5, HAND1, and NOTCH1 that coordinately contribute to cardiac malformations in HLHS. 25050861 2014
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 GeneticVariation group BEFREE We identified novel co-segregating pathogenic mutations in NOTCH1 associated with left and right-sided cardiac malformations in three independent families with a total of 15 affected individuals. 27760138 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 Biomarker group BEFREE The spectrum of NOTCH1-associated malformations is widened. 31111652 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 Biomarker group BEFREE In addition to showing that extracranial AVMs demonstrate interrupted elastin and that AVMs and LMs demonstrate abnormal α-smooth muscle actin just as brain AVMS do, our results demonstrate that NOTCH1, 2, 3 and 4 proteins are overexpressed to varying degrees in both the endothelial and mural lining of the malformed vessels in all types of malformations. 30573741 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.400 Biomarker group CTD_human Dll3 and Notch1 genetic interactions model axial segmental and craniofacial malformations of human birth defects. 17849441 2007