ACTN1, actinin alpha 1, 87

N. diseases: 34; N. variants: 11
Disease: Myopathies, Nemaline ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		0.010 Biomarker disease BEFREE Cullin-3 dependent deregulation of ACTN1 represents a new pathogenic mechanism in nemaline myopathy. 30990797 2019