Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.200 GeneticVariation disease BEFREE It is also known that BAV is more frequent in patients with thoracic aortic aneurysm (TAA) related to mutations in <i>ACTA2, FBN1</i>, and <i>TGFBR2</i> genes. 28883797 2017
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.200 GeneticVariation disease BEFREE ACTA2 mutations predispose to development of aortic aneurysms and early onset coronary and cerebrovascular disease. 26637293 2015
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.200 GeneticVariation disease BEFREE Herein, we describe 17-year-old identical twin brothers with severe progressive TAA due to a novel de novo ACTA2 mutation. 25225139 2014
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.200 Biomarker disease BEFREE We demonstrate a novel method to generate SMC-like cells from human dermal fibroblasts by transdifferentiation to study the effect of variants in genes encoding proteins of the SMC contractile apparatus (ACTA2 and MYH11) in patients with aortic aneurysms. 28074631 2017
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.200 GeneticVariation disease BEFREE We evaluated 100 probands to determine the mutation frequency in MYH11, ACTA2, TGFβRI, and TGFβRII in an unbiased population of individuals with genetically mediated TAA. 23099432 2012
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.200 GeneticVariation disease BEFREE Mutations in the smooth muscle-specific isoform of α-actin (ACTA2) cause vascular smooth muscle dysfunction leading to aortic aneurysm and moyamoya syndrome. 22752479 2013
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.200 GeneticVariation disease BEFREE To our knowledge, this is the first report of a Cypriot family case diagnosed with TAA presented by two novel variants one in the ACTA2 and the other in the MYH11 genes. 30526509 2018
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.200 GeneticVariation disease BEFREE Mutations in the gene ACTA2 are a recognized cause of aortic aneurysms with aortic dissection in adulthood. 26034244 2015
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.200 GeneticVariation disease BEFREE We recruited 20 patients who underwent surgery for BAV and TAA; clinical genetic evaluation and ACTA2 mutation analysis were performed on each patient, along with next-generation sequencing analysis of BAV-related genes. 29049801 2017
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.200 Biomarker disease BEFREE Genetic variants associated with non-syndromic TAA (ACTA2 and MYH11) are related to the TGFβ pathway, strongly implicated in syndromic TAA, thus suggesting a common pathway between syndromic and non-syndromic TAA. 24842835 2014
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.200 GeneticVariation disease LHGDN Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. 17994018 2007
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2
0.200 Biomarker disease HPO