ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Cerebrovascular Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		0.040 Biomarker group BEFREE Key Messages: ACTA2 cerebral arteriopathy is a recently described novel cerebrovascular disease seen in patients with MSMDS. 30300893 2018
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		0.040 GeneticVariation group BEFREE We present the first integrated analysis of a severely compromised patient with the R179H mutation and define the arterial pathology of ACTA2-related cerebrovascular disease. 26637293 2015
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		0.040 GeneticVariation group BEFREE Mutations in ACTA2 predispose to thoracic aortic aneurysms and dissection as well as coronary artery and cerebrovascular disease. 24243736 2014
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders 		0.040 GeneticVariation group BEFREE Cerebrovascular disease associated with ACTA2 mutations has been likened to moyamoya disease, but appears to have distinctive features. 22831780 2012