Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 AlteredExpression group BEFREE Spinal Muscular Atrophy (SMA) is a neuromuscular disorder that results from decreased levels of the survival motor neuron (SMN) protein. 28642865 2017
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 AlteredExpression group BEFREE Spinal muscular atrophy (SMA) is a common and often fatal neuromuscular disorder caused by low levels of the Survival Motor Neuron (SMN) protein. 28379354 2017
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 AlteredExpression group BEFREE Proximal spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of the survival motor neuron (SMN) protein. 20515750 2010
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 AlteredExpression group BEFREE Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by insufficient levels of the Survival of Motor Neuron (SMN) protein. 27557711 2017
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 AlteredExpression group BEFREE Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease caused by mutations in the survival of motor neuron 1 (SMN1) gene and deficient expression of the ubiquitously expressed SMN protein. 22798624 2012
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
0.100 AlteredExpression group BEFREE Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder that stems from low levels of survival of motor neuron (SMN) protein. 23727837 2013