| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | Biomarker | disease | BEFREE | Spinal muscular atrophy (SMA) is a devastating motor neuron degeneration disease caused by a deficiency of the SMN protein. | 31019235 | 2019 | ||||
|
0.080 | Biomarker | disease | BEFREE | The disease is mainly caused by low level of the survival motor neuron (SMN) protein, which is coded by two genes, namely SMN1 and SMN2, but leads to selective spinal motor neuron degeneration when SMN1 gene is deleted or mutated. | 30842449 | 2019 | ||||
|
0.080 | Biomarker | disease | BEFREE | Spinal muscular atrophy (SMA) is caused by the low levels of survival motor neuron (SMN) protein and is characterized by motor neuron degeneration and muscle atrophy. | 28811488 | 2017 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | The advent of the first tailored molecular therapy for SMA, based on modulating the splicing behaviour of the SMN2 gene provides, for the first time, a treatment which alters the natural history of motor neuron degeneration. | 28644430 | 2017 | ||||
|
0.080 | AlteredExpression | disease | BEFREE | Although the SMN complex is essential for assembly of spliceosomal U small nuclear RNPs, it is still not understood why reduced levels of the SMN protein specifically cause motor neuron degeneration. | 18093976 | 2008 | ||||
|
0.080 | AlteredExpression | disease | BEFREE | The reason why reduced levels of the ubiquitously expressed SMN protein lead to specific motor neuron degeneration without affecting other cell types is still not understood. | 11773003 | 2002 | ||||
|
0.080 | AlteredExpression | disease | BEFREE | Here we show that a 46% reduction of Smn protein levels in the spinal cord of Smn heterozygous mice leads to a marked loss of the cytoplasmic Smn pool and motor neuron degeneration resembling spinal muscular atrophy type 3. | 10655542 | 2000 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | The Survival Motor Neuron (SMN) gene shows deletions in the majority of patients with Spinal Muscular Atrophy (SMA), a disease of motor neuron degeneration. | 9147655 | 1997 |