Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings. 27567161 2017
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Visceral myopathy: Clinical and molecular survey of a cohort of seven new patients and state of the art of overlapping phenotypes. 27481187 2016
Aortic Aneurysm, Familial Thoracic 6
0.700 GeneticVariation disease CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364 2016
Aortic Aneurysm, Familial Thoracic 6
0.700 Biomarker disease GENOMICS_ENGLAND Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. 26888179 2016
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. 26153420 2015
Aortic Aneurysm, Familial Thoracic 6
0.700 GeneticVariation disease CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435 2015
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. 24020716 2015
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435 2015
Aortic Aneurysm, Familial Thoracic 6
0.700 GeneticVariation disease CLINVAR Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. 25644172 2015
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy. 26034244 2015
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Clinical utility of a next generation sequencing panel assay for Marfan and Marfan-like syndromes featuring aortopathy. 25944730 2015
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients. 25644172 2015
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. 24621862 2014
Aortic Aneurysm, Familial Thoracic 6
0.700 GeneticVariation disease CLINVAR Acute aortic dissections with pregnancy in women with ACTA2 mutations. 24243736 2014
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. 24998021 2014
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Acute aortic dissections with pregnancy in women with ACTA2 mutations. 24243736 2014
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Cerebral arteriopathy associated with Arg179His ACTA2 mutation. 24293535 2013
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 21937134 2013
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. 22752479 2013
Aortic Aneurysm, Familial Thoracic 6
0.700 GeneticVariation disease CLINVAR Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 21937134 2013
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. 22946110 2012
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. 22831780 2012
Aortic Aneurysm, Familial Thoracic 6
0.700 GeneticVariation disease CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741 2011
Aortic Aneurysm, Familial Thoracic 6
0.700 GeneticVariation disease CLINVAR Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene. 21733706 2011
Aortic Aneurysm, Familial Thoracic 6
0.700 CausalMutation disease CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741 2011