Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy
0.020 AlteredExpression group BEFREE Myopathy-specific autoantibody profile revealed significantly increased levels of anti-SMN (survival of motor neuron) as well as anti-Gemin3 antibodies in scurfy sera. 31068947 2019
CUI: C0026848
Disease: Myopathy
Myopathy
0.020 GeneticVariation group BEFREE We recommend that every patient with congenital cytoplasmic body myopathy be tested for SMN gene deletion. 9748045 1998