SMN2, survival of motor neuron 2, centromeric, 6607

N. diseases: 299; N. variants: 35
Disease: Progressive Muscular Atrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0917981
Disease: Progressive Muscular Atrophy
Progressive Muscular Atrophy 		0.320 GeneticVariation disease BEFREE The aim of this study was to analyse the SMN1 and SMN2 copy number variations in patients with PMA. 23477310 2013
CUI: C0917981
Disease: Progressive Muscular Atrophy
Progressive Muscular Atrophy 		0.320 Therapeutic disease CTD_human Disruption of the Survival Motor Neuron (SMN) gene in pigs using ssDNA. 21350916 2011
CUI: C0917981
Disease: Progressive Muscular Atrophy
Progressive Muscular Atrophy 		0.320 Biomarker disease BEFREE We searched for deletions of SMN1 and SMN2 in a group of 11 patients with sporadic adult-onset lower motor neuron disease (also referred to as "progressive muscular atrophy") and found an excess of patients carrying homozygous deletions of SMN2 exon 7 (36% versus 5% in the normal population). 11993528 2002