Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4851
Gene Symbol: NOTCH1
NOTCH1
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		0.100 GeneticVariation CLINVAR Mutations in NOTCH1 cause Adams-Oliver syndrome. 25132448

2014