ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 40; N. variants: 21
Disease: Moyamoya Disease ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.600 SusceptibilityMutation disease ORPHANET Further combined analysis of ACTA2 and other, possibly causative, genes in larger cohorts of MMD and other vascular diseases may identify possible common disease-causing mechanisms. 20970362 2011
CUI: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.600 SusceptibilityMutation disease ORPHANET 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: C0026654
Disease: Moyamoya Disease
Moyamoya Disease 		0.600 Biomarker disease GENOMICS_ENGLAND