SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
Disease: Aneurysm of ascending aorta ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		0.010 Biomarker phenotype BEFREE Causative gene mutations (for example, NOTCH1, SMAD6) are known for ≤1% of nonsyndromic BAV cases with and without AscAA<sup>5-8</sup>, impeding mechanistic insight and development of therapeutic strategies. 30455415 2019