rs58982919, NEFL

N. diseases: 10
Disease: Sensorimotor neuropathy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
0.010 GeneticVariation BEFREE We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia. 26645395 2016