ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Familial thoracic aortic aneurysm and aortic dissection ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906592
rs387906592
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. 22752479 2013
dbSNP: rs112602953
rs112602953
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR TGFβRIIb mutations trigger aortic aneurysm pathogenesis by altering transforming growth factor β2 signal transduction. 23099432 2012
dbSNP: rs387906592
rs387906592
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. 22302747 2012
dbSNP: rs112901682
rs112901682
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. 21248741 2011
dbSNP: rs112901682
rs112901682
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR Isolated giant ascending aortic aneurysm in a child: a novel mutation of the ACTA2 gene. 21733706 2011
dbSNP: rs387906592
rs387906592
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Analysis of ACTA2 in European Moyamoya disease patients. 20970362 2011
dbSNP: rs387906592
rs387906592
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. 20734336 2010
dbSNP: rs112602953
rs112602953
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525 2009
dbSNP: rs387906592
rs387906592
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525 2009
dbSNP: rs397516685
rs397516685
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). 19639654 2009
dbSNP: rs397516685
rs397516685
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. 19409525 2009
dbSNP: rs112602953
rs112602953
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 CausalMutation CLINVAR Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007
dbSNP: rs112901682
rs112901682
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs121434526
rs121434526
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		A 0.700 CausalMutation CLINVAR
dbSNP: rs727502878
rs727502878
Entrez Id: 59;57559;100132116
Gene Symbol: ACTA2;STAMBPL1;ACTA2-AS1
ACTA2;STAMBPL1;ACTA2-AS1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs746972765
rs746972765
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs794728021
rs794728021
Entrez Id: 59;57559
Gene Symbol: ACTA2;STAMBPL1
ACTA2;STAMBPL1
CUI: C4707243
Disease:
Familial thoracic aortic aneurysm and aortic dissection 		T 0.700 GeneticVariation CLINVAR