ACTB, actin beta, 60

N. diseases: 1110; N. variants: 39
Disease: Intranuclear Rod Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3711377
Disease: Intranuclear Rod Myopathy
Intranuclear Rod Myopathy 		0.030 GeneticVariation disease BEFREE V163L and V163M actin mutants are known to cause intranuclear rod myopathy, however, intranuclear bodies were not reported in patient R183G. 15198992 2004
CUI: C3711377
Disease: Intranuclear Rod Myopathy
Intranuclear Rod Myopathy 		0.030 Biomarker 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: C3711377
Disease: Intranuclear Rod Myopathy
Intranuclear Rod Myopathy 		0.030 GeneticVariation disease BEFREE Mutations in the skeletal muscle alpha-actin gene (ACTA1) associated with congenital myopathy with excess of thin myofilaments, nemaline myopathy and intranuclear rod myopathy were first described in 1999. 12921789 2003