NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
0.110 Biomarker disease HPO
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
0.110 GeneticVariation disease 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