Gene: ACTA2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 Biomarker disease CLINGEN Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin. 27551047 2016
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 Biomarker disease CLINGEN Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. 26153420 2015
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 CausalMutation disease CLINVAR Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. 22752479 2013
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 CausalMutation disease CLINVAR TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction. 23099432 2012
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 CausalMutation disease CLINVAR R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 22302747 2012
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 CausalMutation disease CLINVAR Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene. 21733706 2011
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 CausalMutation disease CLINVAR Analysis of ACTA2 in European Moyamoya disease patients. 20970362 2011
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 CausalMutation disease CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741 2011
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		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
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 CausalMutation disease CLINVAR De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336 2010
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		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
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		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
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		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
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		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
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		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
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 CausalMutation disease CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 Biomarker disease CLINGEN Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 Biomarker disease CLINGEN Impaired vascular contractility and blood pressure homeostasis in the smooth muscle alpha-actin null mouse. 11053242 2000
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.600 Biomarker disease GENOMICS_ENGLAND