NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: Axonal neuropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.020 GeneticVariation disease BEFREE Some mutations, most notably in P0, GJB1, ganglioside-induced differentiation-associated protein 1 (GDAP1), neurofilament light chain (NF-L), and dynamin 2 (DNM2), can result in demyelinating or axonal neuropathies introducing additional complexity in the pathogenesis. 16775378 2006
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy 		0.020 GeneticVariation disease BEFREE Thus, analysis of the neurofilament light gene should not be restricted to pure axonal neuropathies. 14733962 2004