Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder
0.080 Biomarker group BEFREE Spinal muscular atrophy (SMA) is a degenerative disorder that selectively deteriorates motor neurons due to a deficiency of survival motor neuron protein (SMN). 30116818 2018
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder
0.080 GeneticVariation group BEFREE The homozygous loss of the survival motor neuron 1 (SMN1) gene is the primary cause of spinal muscular atrophy (SMA), a neuromuscular degenerative disease. 26739529 2016
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder
0.080 GeneticVariation group BEFREE The determining factor of spinal muscular atrophy (SMA), the most common motor neuron degenerative disease of childhood, is the survival motor neuron (SMN) protein. 24645792 2014
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder
0.080 Biomarker group BEFREE Reduction in the expression of the survival of motor neurons (SMN) protein results in spinal muscular atrophy (SMA), a common motor neuron degenerative disease. 15843395 2005
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder
0.080 AlteredExpression group BEFREE Reduction of the survival of motor neurons (SMN) protein levels causes the motor neuron degenerative disease spinal muscular atrophy, the severity of which correlates with the extent of reduction in SMN. 15964810 2005
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder
0.080 AlteredExpression group BEFREE The motor neuron degenerative disease spinal muscular atrophy is caused by reduced expression of the survival motor neuron (SMN) protein. 11121410 2001
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder
0.080 Biomarker group BEFREE The survival of motor neurons (SMN) gene is the disease gene of spinal muscular atrophy (SMA), a common motor neuron degenerative disease. 10601333 1999
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder
0.080 GeneticVariation group BEFREE Spinal muscular atrophy (SMA) is a common motor neuron degenerative disease that results from reduced levels of, or mutations in, the Survival of Motor Neurons (SMN) protein. 9845364 1998