NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: Hereditary Motor and Sensory-Neuropathy Type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.010 GeneticVariation disease BEFREE A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809 2000