ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Aortic Aneurysm, Familial Thoracic 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 GeneticVariation disease CLINVAR Acute aortic dissections with pregnancy in women with ACTA2 mutations. 24243736 2014
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
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
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 CausalMutation disease CLINVAR Acute aortic dissections with pregnancy in women with ACTA2 mutations. 24243736 2014
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
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
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 GeneticVariation disease CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435 2015
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
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
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 CausalMutation disease CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435 2015
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
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
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 CausalMutation disease CLINVAR Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy. 26034244 2015
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
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
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
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
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
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
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 GeneticVariation disease CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364 2016
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
Aortic Aneurysm, Familial Thoracic 6 		0.700 Biomarker disease GENOMICS_ENGLAND Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. 26888179 2016
CUI: C2673186
Disease: Aortic Aneurysm, Familial Thoracic 6
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