ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
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 		0.010 GeneticVariation 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