SMN1, survival of motor neuron 1, telomeric, 6606

N. diseases: 317; N. variants: 30
Disease: Bulbospinal Neuronopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy 		0.300 Biomarker disease CTD_human Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene. 27111068 2016
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy 		0.300 Biomarker disease CTD_human Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA. 21350916 2011
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy 		0.300 Biomarker disease CTD_human Discovery, synthesis, and biological evaluation of novel SMN protein modulators. 21819082 2011
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy 		0.300 Biomarker disease CTD_human Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. 19150990 2009
CUI: C0393547
Disease: Bulbospinal Neuronopathy
Bulbospinal Neuronopathy 		0.300 Biomarker disease CTD_human Increased susceptibility of spinal muscular atrophy fibroblasts to camptothecin-induced cell death. 15862279 2005