Gene: ACTA2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.430 GeneticVariation disease BEFREE Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report. 30526509 2018
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.430 GeneticVariation disease BEFREE 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 		0.430 GeneticVariation disease BEFREE In this study, patients suspected of having a clinical diagnosis of Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS) and Thoracic Aortic Aneurysms and Dissections (TAAD) were referred for genetic testing and examined for mutations in the FBN1, TGFβR1, TGFβR2 and ACTA2 genes. 24793577 2014
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.430 Biomarker disease CTD_human Here we show that missense mutations in ACTA2 are responsible for 14% of inherited ascending thoracic aortic aneurysms and dissections (TAAD). 17994018 2007
Entrez Id: 59
Gene Symbol: ACTA2
ACTA2 		0.430 Biomarker disease HPO