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 GeneticVariation 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 		0.700 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 Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435 2015
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.700 GeneticVariation 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 Acute aortic dissections with pregnancy in women with ACTA2 mutations. 24243736 2014
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.700 GeneticVariation disease CLINVAR Genetic testing of 248 Chinese aortopathy patients using a panel assay. 27611364 2016
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.700 GeneticVariation disease CLINVAR Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 21937134 2013
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 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
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 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 GeneticVariation disease UNIPROT Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 GeneticVariation disease CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741 2011
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 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: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 GeneticVariation disease CLINVAR Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. 21937134 2013
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 GeneticVariation disease CLINVAR Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. 25759435 2015
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 GeneticVariation disease CLINVAR Acute aortic dissections with pregnancy in women with ACTA2 mutations. 24243736 2014
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: 100132116
Gene Symbol: ACTA2-AS1
ACTA2-AS1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 GeneticVariation disease CLINVAR Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). 21212136 2011
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 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
Entrez Id: 57559
Gene Symbol: STAMBPL1
STAMBPL1 		0.100 GeneticVariation 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 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 Biomarker disease GENOMICS_ENGLAND Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes. 26888179 2016
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.700 Biomarker disease CTD_human