NOTCH1, notch receptor 1, 4851

N. diseases: 693; N. variants: 64
Disease: Congenital defect of skull and scalp ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931779
Disease: Congenital defect of skull and scalp
Congenital defect of skull and scalp 		0.310 Biomarker disease CTD_human
CUI: C2931779
Disease: Congenital defect of skull and scalp
Congenital defect of skull and scalp 		0.310 GeneticVariation disease BEFREE Here, we report five heterozygous NOTCH1 variants in unrelated individuals with Adams-Oliver syndrome (AOS), a rare disease with major features of aplasia cutis of the scalp and terminal transverse limb defects. 25132448 2014