ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		0.020 Biomarker disease BEFREE Missense mutations in the gene that codes for smooth muscle actin, ACTA2, cause diffuse smooth muscle dysfunction and a distinct cerebral arteriopathy collectively known as multisystemic smooth muscle dysfunction syndrome (MSMDS). 30300893 2018
CUI: C3151201
Disease: MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME 		0.020 Biomarker disease BEFREE A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth. 22790431 2012