ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Actin-Accumulation Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.050 Biomarker disease BEFREE We further show that the milder phenotype results from a compensatory transcriptional upregulation of an actin paralogue providing a novel approach to be explored for the treatment of actin myopathy. 29420541 2018
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.050 GeneticVariation disease BEFREE Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation. 20621480 2010
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.050 GeneticVariation disease BEFREE Mutations in the skeletal muscle alpha-actin gene ( ACTA1) are associated by and large with three muscle diseases (1) congenital actin myopathy, (2) nemaline myopathy, and (3) intranuclear rod myopathy. 15221331 2004
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.050 GeneticVariation disease BEFREE The most dramatic example of this property is actin, mutations in which are associated with hypertrophic cardiomyopathy, dilated cardiomyopathy, nemaline myopathy and actin myopathy. 11563546 2001
CUI: C3711389
Disease: Actin-Accumulation Myopathy
Actin-Accumulation Myopathy 		0.050 Biomarker disease BEFREE Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. 10508519 1999