Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238669
Disease: Aortic root dilatation
Aortic root dilatation
0.010 GeneticVariation disease BEFREE There are few reports of aortic root dilatation in Noonan syndrome, and to our knowledge this is the first case with a confirmed PTPN11 mutation. 16830086 2007