NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: Peripheral demyelinating neuropathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0270922
Disease:
Peripheral demyelinating neuropathy 		0.010 GeneticVariation BEFREE The neurofilament light chain gene (NEFL) mutation Pro22Ser can be associated with mixed axonal and demyelinating neuropathy. 19286384 2009