FOXE3, forkhead box E3, 2301

N. diseases: 118; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases
0.010 GeneticVariation group BEFREE Our data demonstrate that FOXE3 mutations lead to a reduced number of aortic SMCs during development and increased SMC apoptosis in the ascending aorta in response to increased biomechanical forces, thus defining an additional molecular pathway that leads to familial thoracic aortic disease. 26854927 2016