SMN2, survival of motor neuron 2, centromeric, 6607

N. diseases: 299; N. variants: 35
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 progressive motor neuron disease caused by loss or mutation of the survival motor neuron 1 (SMN1) gene and retention of SMN2. 30788592 2019
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 Spinal muscular atrophy type 1 (SMA1) is a progressive, monogenic motor neuron disease with an onset during infancy that results in failure to achieve motor milestones and in death or the need for mechanical ventilation by 2 years of age. 29091557 2017
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 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 Biomarker disease BEFREE Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy. 25104390 2014
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 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 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 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 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 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 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 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 Biomarker disease BEFREE Motor neuron diseases (amyotrophic lateral sclerosis [ALS] and spinal muscular atrophy [SMA]) have been rarely associated with mitochondrial respiratory chain defects. 18332255 2008
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE Survival of motor neuron 2, centromeric (SMN2) is a gene that modifies the severity of spinal muscular atrophy (SMA), a motor-neuron disease that is the leading genetic cause of infant mortality. 18371932 2008
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE The inherited motor neuron disease spinal muscular atrophy (SMA) is caused by mutation of the telomeric survival motor neuron 1 (SMN1) gene with retention of the centromeric SMN2 gene. 17318264 2007
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 GeneticVariation disease BEFREE The effect of the number of copies in the SMN1 and SMN2 genes - the most extensively studied susceptibility and modifying genetic factors in adult onset motor neuron diseases - as a genetic risk factor for Hirayama's disease (HirD) has never been studied. 17850955 2007
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE SMN1 gene deletions cause spinal muscular atrophy, and SMN2 gene deletions have been associated with sporadic lower motor neuron diseases. 16931506 2006
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