NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: Pyramidal sign ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234132
Disease: Pyramidal sign
Pyramidal sign 		0.010 GeneticVariation phenotype BEFREE Neurofilament light mutation causes hereditary motor and sensory neuropathy with pyramidal signs. 25583183 2014