|
| 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: |
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 |
|
|
|
|
| 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 |
CausalMutation
|
disease |
CLINVAR |
Cerebral arteriopathy associated with Arg179His ACTA2 mutation.
|
24293535 |
2013 |
|
| Entrez Id: |
59 |
| Gene Symbol: |
ACTA2 |
ACTA2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin.
|
26153420 |
2015 |
|
| Entrez Id: |
59 |
| Gene Symbol: |
ACTA2 |
ACTA2
|
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 |
|
| Entrez Id: |
59 |
| Gene Symbol: |
ACTA2 |
ACTA2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm.
|
22946110 |
2012 |
|
| Entrez Id: |
59 |
| Gene Symbol: |
ACTA2 |
ACTA2
|
0.700 |
CausalMutation
|
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 |
CausalMutation
|
disease |
CLINVAR |
Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.
|
22752479 |
2013 |
|
| Entrez Id: |
59 |
| Gene Symbol: |
ACTA2 |
ACTA2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.
|
27567161 |
2017 |
|
| Entrez Id: |
59 |
| Gene Symbol: |
ACTA2 |
ACTA2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.
|
24020716 |
2015 |
|
| Entrez Id: |
59 |
| Gene Symbol: |
ACTA2 |
ACTA2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome.
|
24621862 |
2014 |