Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
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
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
0.310 Biomarker disease CTD_human