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: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
0.030 Biomarker disease BEFREE Higher concentrations of CSF NFL were associated with shorter survival in both MND and FTD. 28631955 2017
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
0.030 GeneticVariation disease BEFREE NEFL mutations are known to cause Charcot-Marie-Tooth disease in humans and motor neuron disease in mice. 25264603 2014
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease
0.030 Biomarker disease BEFREE Extra neurofilament NF-L subunits rescue motor neuron disease caused by overexpression of the human NF-H gene in mice. 10515233 1999