ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Dystonia, Limb ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751093
Disease: Dystonia, Limb
Dystonia, Limb 		0.300 Biomarker phenotype CTD_human A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. 16685646 2006