Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.600 Biomarker disease CLINGEN Notch-dependent EMT is attenuated in patients with aortic aneurysm and bicuspid aortic valve. 26876948 2016
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.600 Biomarker disease CLINGEN Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families. 26820064 2016
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.600 Biomarker disease CLINGEN Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. 16729972 2006
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.600 Biomarker disease CLINGEN Mutations in NOTCH1 cause aortic valve disease. 16025100 2005
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.600 GeneticVariation disease CLINVAR
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.600 Biomarker disease GENOMICS_ENGLAND