SNURF, SNRPN upstream reading frame, 8926

N. diseases: 63; N. variants: 1
Disease: Spinal Diseases ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037933
Disease: Spinal Diseases
Spinal Diseases 		0.030 AlteredExpression group BEFREE The motoneuron disease spinal muscular atrophy (SMA) is caused by low levels of the survival motor neuron (SMN) protein leading to defects in vertebrate motoneuron development and synapse formation. 29061699 2017
CUI: C0037933
Disease: Spinal Diseases
Spinal Diseases 		0.030 AlteredExpression group BEFREE The MN disease spinal muscular atrophy (SMA) is attributable to reduced levels of the ubiquitous protein SMN. 28178525 2017
CUI: C0037933
Disease: Spinal Diseases
Spinal Diseases 		0.030 Biomarker group BEFREE To understand how this essential complex is formed, we have used protein crystallography to determine the first complete structures of the key assembler protein, SMN, and the truncated isoform, SMNΔ7, which is found in patients with the disease spinal muscular atrophy (SMA). 25561692 2015