SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
0.110 GeneticVariation disease BEFREE Although only 14% of the TAA patients also presented BAV, all novel likely pathogenic SMAD6 variants (N = 7) were identified in BAV/TAA individuals, further establishing the role of SMAD6 variants to the aetiology of BAV/TAA and revealing limited contribution to TAA development in patients with a tricuspid aortic valve. 30796334 2019
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm
0.110 Biomarker disease HPO