ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Aortopulmonary Septal Defect ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003516
Disease: Aortopulmonary Septal Defect
Aortopulmonary Septal Defect 		0.010 Biomarker disease BEFREE These observations exemplify that a functional alpha 2 smooth muscle actin is necessary for proper cardiovascular organ development, and demonstrate that a very exceptional congenital heart defect (aortopulmonary window) can be caused by a mutation in a gene encoding a contractile protein of vascular smooth muscle cells. 28328125 2017