ACTA2, actin alpha 2, smooth muscle, 59

N. diseases: 200; N. variants: 26
Disease: Iris flocculi ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4477072
Disease: Iris flocculi
Iris flocculi 		0.020 GeneticVariation phenotype BEFREE Central cysts of the iris pigment epithelium, or iris flocculi, are frequently reported in the literature in association with thoracic aortic aneurysm and dissection due to smooth muscle alpha-actin 2 (<i>ACTA2</i>) mutations. 29875232 2019
CUI: C4477072
Disease: Iris flocculi
Iris flocculi 		0.020 Biomarker phenotype BEFREE We report a missense mutation in the smooth muscle α-actin (ACTA2; MIM*102620) gene in a 3 generational family from Northern Ireland in which iris flocculi were an ocular marker of the disease. 24020716 2015