Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.700 CausalMutation disease CLINVAR Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). 21212136 2011
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.700 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 		0.700 GeneticVariation disease CLINVAR Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). 21212136 2011
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.700 CausalMutation disease CLINVAR Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function. 21288906 2011
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.700 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 		0.700 Biomarker disease GENOMICS_ENGLAND De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336 2010
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.700 GeneticVariation disease UNIPROT 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 		0.700 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 		0.700 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 		0.700 GeneticVariation disease UNIPROT 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 		0.700 CausalMutation 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 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.700 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 		0.700 GeneticVariation disease UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.700 Biomarker disease CTD_human
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 CausalMutation disease CLINVAR Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings. 27567161 2017
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 GeneticVariation disease CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364 2016
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 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
Entrez Id: 100132116
Gene Symbol: ACTA2-AS1
ACTA2-AS1 		0.100 CausalMutation disease CLINVAR Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. 26153420 2015
Entrez Id: 100132116
Gene Symbol: ACTA2-AS1
ACTA2-AS1 		0.100 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
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 CausalMutation disease CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435 2015
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 CausalMutation disease CLINVAR Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. 26153420 2015
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 CausalMutation disease CLINVAR Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. 24020716 2015
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 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
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 CausalMutation disease CLINVAR Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy. 26034244 2015