SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Disease: Familial thoracic aortic aneurysm and aortic dissection ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.500 GermlineCausalMutation disease ORPHANET SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections. 30809044 2019