SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Aortic Aneurysm, Thoracic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		0.020 Biomarker disease BEFREE A Functional Variant of SMAD4 Enhances Thoracic Aortic Aneurysm and Dissection Risk through Promoting Smooth Muscle Cell Apoptosis and Proteoglycan Degradation. 28666732 2017
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		0.020 Biomarker disease BEFREE SMAD4 is as an essential mediator of the transforming growth factor β (TGF-β) signaling pathway, and dysregulated TGF-β signaling is linked with thoracic aortic aneurysms (TAAs). 28716708 2017