Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.030 GeneticVariation disease BEFREE Three human disorders including a neoplasia (a T-cell acute lymphoblastic leukemia/lymphoma), a late onset neurological disease (CADASIL) and a developmental disorder (the Alagille syndrome) are associated with mutations in, respectively, the Notch1, Notch3 and Jagged1 genes, pointing out the broad spectrum of Notch activity in humans. 10075489 1998
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.030 Biomarker disease BEFREE Notch2, but not Notch1, plays indispensable roles in kidney organogenesis, and Notch2 haploinsufficiency is associated with Alagille syndrome. 23806616 2013
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.030 Biomarker disease BEFREE Deletion of Notch1 from the CNC using Wnt1-cre; Notch1 F/F mice did not recapitulate the midface hypoplasia of Alagille syndrome. 22156581 2012