NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
0.340 GeneticVariation disease BEFREE NOTCH1 mutations have been described in bicuspid aortic valve disease, left-sided congenital heart disease, and Adams-Oliver syndrome. 29767458 2019
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
0.340 Biomarker disease BEFREE Re-analysis of WES variants and combination of prenatal and postnatal phenotyping yielded pathogenic variants in at least 20% of cases including PORCN gene in a fetus with split-hand/foot malformation, as well as variants of uncertain significance in NEB and NOTCH1 in fetuses with postnatal muscle weakness and Adams-Oliver syndrome, respectively. 29392406 2018
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
0.340 Biomarker disease BEFREE Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. 25963545 2015
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
0.340 GeneticVariation disease BEFREE Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014
CUI: C0265268
Disease: Adams Oliver syndrome
Adams Oliver syndrome
0.340 GermlineCausalMutation disease ORPHANET Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448 2014