ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Ischemic stroke ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.130 GeneticVariation disease BEFREE Recognition of clinical and radiological phenotypic patterns has facilitated the discovery of multisystem disorders associated with arterial ischemic stroke including ACTA2 arteriopathy and adenosine deaminase 2 deficiency. 30079825 2019
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.130 GeneticVariation disease BEFREE As such, mutant ACTA2 predisposed patients to ischemic strokes as children. 30300893 2018
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.130 GeneticVariation disease BEFREE Linkage analysis and association studies of individuals in 20 families with ACTA2 mutations indicate that mutation carriers can have a diversity of vascular diseases, including premature onset of coronary artery disease (CAD) and premature ischemic strokes (including Moyamoya disease [MMD]), as well as previously defined TAAD. 19409525 2009
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.130 Biomarker disease HPO