Disease: Motor Neuron Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal muscular atrophy (SMA) is a motor neuron disease caused by loss of function mutations in the Survival Motor Neuron 1 (SMN1) gene and reduced expression of the SMN protein, leading to spinal motor neuron death, muscle weakness and atrophy. 31811660 2019
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by deleterious variants in SMN1 that lead to a marked decrease in survival motor neuron (SMN) protein expression. 29790918 2018
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 AlteredExpression disease BEFREE By mechanisms that are not well understood, reduced expression of the ubiquitously expressed SMN protein causes an early-onset motor neuron disease that often results in infantile or childhood mortality. 29985170 2018
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 AlteredExpression disease BEFREE Spinal muscular atrophy (SMA) is a motor neuron disease caused by reduced levels of the survival of motor neuron (SMN) protein. 28199839 2017
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE Senataxin also joins a group of important proteins responsible for maintaining RNA transcriptome homeostasis, including FUS, TDP-43, and SMN that can all cause familial forms of motor neuron disease (MND). 25725227 2015
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Our observations linking U1 snRNP to ALS patient cells with FUS mutations, SMN-containing Gems, and motor neurons indicate that U1 snRNP is a component of a molecular pathway associated with motor neuron disease. 25735748 2015
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 AlteredExpression disease BEFREE Spinal muscular atrophy is a severe motor neuron disease caused by reduced levels of the ubiquitous Survival of MotoNeurons (SMN) protein. 23221635 2013
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE Spinal muscular atrophy is an inherited motor neuron disease that results from a deficiency of the survival of motor neuron (SMN) protein. 23615451 2013
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE Spinal muscular atrophy (SMA) is a motor neuron disease caused by deficiency of the ubiquitous survival motor neuron (SMN) protein. 23063131 2012
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE FUS-SMN protein interactions link the motor neuron diseases ALS and SMA. 23022481 2012
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by the mutation of the survival motor neuron 1 (SMN1) gene and deficiency of the SMN protein. 21325354 2011
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE Low levels of full-length survival motor neuron (SMN) protein cause the motor neuron disease, spinal muscular atrophy (SMA). 21840928 2011
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 AlteredExpression disease BEFREE The extent to which SMN is required for the maintenance of motor neurons in later life and whether augmenting its levels could treat degenerative motor neuron diseases, such as amyotrophic lateral sclerosis (ALS), requires further exploration. 21708901 2011
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Thus, these protein interaction data have linked the three etiologic factors HspB8, HspB1, and SMN protein, and mutations in any of their genes cause the various forms of MND. 20157854 2010
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE The childhood motor neuron disease spinal muscular atrophy (SMA) results from reduced expression of the survival motor neuron (SMN) gene. 19884170 2010
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 AlteredExpression disease BEFREE Spinal muscular atrophy (SMA) is a motor neuron disease caused by reduced levels of the survival motor neuron (SMN) protein. 17895963 2007
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE Spinal muscular atrophy (SMA) is a motor neuron disease caused by dysfunction of the survival motor neuron (SMN) gene. 16049920 2005
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE Children with AMC or congenital heart disease, or both, and motor neuron disease should undergo testing for SMN(T) deletion. 9748047 1998
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE We studied SMN gene in three different groups of patients with adult-onset MNDs. 9585359 1998
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations in the telomeric copy of the survival motor neuron (SMN(T)) gene. 10732802 1998
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE The relationship of spinal muscular atrophy to motor neuron disease: investigation of SMN and NAIP gene deletions in sporadic and familial ALS. 9073029 1997