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 Our data demonstrate that even within the same family, the p.Gly66Val variant can cause variable phenotypes ranging from CMT2-type axonal neuropathy to spinal muscular atrophy, which may also present as an ALS-like disease. 26224640 2016