rs1171108843, CDCA5

N. diseases: 2
Disease: Spinal Muscular Atrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
0.010 GeneticVariation BEFREE In addition, expression of the phosphorylation-deficient tauS202A,T205A mutant alleviates motor neuron defects in a zebrafish SMA model in vivo and mouse motor neuron degeneration in culture, whereas expression of phosphorylation-mimetic tauS202E,T205E promotes motor neuron defects. 25878277 2015