Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Familial thoracic aortic aneurysm and aortic dissection
0.600 Biomarker disease CLINGEN Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin. 27551047 2016
Familial thoracic aortic aneurysm and aortic dissection
0.600 Biomarker disease CLINGEN Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. 26153420 2015
Familial thoracic aortic aneurysm and aortic dissection
0.600 CausalMutation disease CLINVAR Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. 22752479 2013
Familial thoracic aortic aneurysm and aortic dissection
0.600 CausalMutation disease CLINVAR TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction. 23099432 2012
Familial thoracic aortic aneurysm and aortic dissection
0.600 CausalMutation disease CLINVAR R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 22302747 2012
Familial thoracic aortic aneurysm and aortic dissection
0.600 CausalMutation disease CLINVAR Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene. 21733706 2011
Familial thoracic aortic aneurysm and aortic dissection
0.600 CausalMutation disease CLINVAR Analysis of ACTA2 in European Moyamoya disease patients. 20970362 2011
Familial thoracic aortic aneurysm and aortic dissection
0.600 CausalMutation disease CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741 2011
Familial thoracic aortic aneurysm and aortic dissection
0.600 Biomarker disease CLINGEN Clinical, pathological, and genetic analysis of a Korean family with thoracic aortic aneurysms and dissections carrying a novel Asp26Tyr mutation. 20689142 2010
Familial thoracic aortic aneurysm and aortic dissection
0.600 CausalMutation disease CLINVAR De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336 2010
Familial thoracic aortic aneurysm and aortic dissection
0.600 Biomarker disease CLINGEN Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 19639654 2009
Familial thoracic aortic aneurysm and aortic dissection
0.600 GeneticVariation disease CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525 2009
Familial thoracic aortic aneurysm and aortic dissection
0.600 Biomarker disease CLINGEN Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525 2009
Familial thoracic aortic aneurysm and aortic dissection
0.600 GeneticVariation disease CLINVAR Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 19639654 2009
Familial thoracic aortic aneurysm and aortic dissection
0.600 CausalMutation disease CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525 2009
Familial thoracic aortic aneurysm and aortic dissection
0.600 CausalMutation disease CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007
Familial thoracic aortic aneurysm and aortic dissection
0.600 Biomarker disease CLINGEN Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007
Familial thoracic aortic aneurysm and aortic dissection
0.600 Biomarker disease CLINGEN Impaired vascular contractility and blood pressure homeostasis in the smooth muscle alpha-actin null mouse. 11053242 2000
Familial thoracic aortic aneurysm and aortic dissection
0.600 Biomarker disease GENOMICS_ENGLAND