| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.650 | Biomarker | disease | BEFREE | In conclusion, we identified a novel SMAD6 variant causing a severely calcified BAV and TAA, which contributes to our understanding of the clinical and genetic background of SMAD6-related BAV. | 30848080 | 2019 | ||||
|
0.650 | GeneticVariation | disease | BEFREE | Rare heterozygous variants in SMAD6 have been identified as a significant genetic contributor to bicuspid aortic valve-associated thoracic aortic aneurysm on one hand and non-syndromic midline craniosynostosis on the other. | 30963242 | 2019 | ||||
|
0.650 | Biomarker | disease | CTD_human | 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 | ||||
|
0.650 | Biomarker | disease | 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 | ||||
|
0.650 | 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 | ||||
|
0.650 | GeneticVariation | disease | BEFREE | Up to date, three genes, NOTCH1, GATA5 and SMAD6, have been linked to the isolated form of BAV. | 29162281 | 2018 | ||||
|
0.650 | GermlineCausalMutation | disease | ORPHANET | Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. | 22275001 | 2012 | ||||
|
0.650 | Biomarker | disease | HPO |