Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
|
17994018 |
2007 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
|
17994018 |
2007 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.
|
17994018 |
2007 |
Aortic Aneurysm, Familial Thoracic 6
|
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 |
Aortic Aneurysm, Familial Thoracic 6
|
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 |
Aortic Aneurysm, Familial Thoracic 6
|
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 |
Aortic Aneurysm, Familial Thoracic 6
|
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 |
Aortic Aneurysm, Familial Thoracic 6
|
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 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
|
20734336 |
2010 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.
|
20734336 |
2010 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).
|
21212136 |
2011 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2).
|
21212136 |
2011 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.
|
21248741 |
2011 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections.
|
21248741 |
2011 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Allele-specific effects of thoracic aortic aneurysm and dissection alpha-smooth muscle actin mutations on actin function.
|
21288906 |
2011 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene.
|
21733706 |
2011 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene.
|
21733706 |
2011 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
|
21937134 |
2013 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
|
21937134 |
2013 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.
|
22752479 |
2013 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.
|
22831780 |
2012 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.
|
22946110 |
2012 |
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 |
Aortic Aneurysm, Familial Thoracic 6
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Acute aortic dissections with pregnancy in women with ACTA2 mutations.
|
24243736 |
2014 |