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: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.120 GeneticVariation group CLINVAR
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.120 Biomarker group BEFREE Besides, we screened for all the known genes related to axonal autosomal recessive Charcot-Marie-Tooth disease (CMT2A2/HMSN2A2/MFN2, CMT2B1/LMNA, CMT2B2/MED25, CMT2B5/NEFL, ARCMT2F/dHMN2B/HSPB1, CMT2K/GDAP1, CMT2P/LRSAM1, CMT2R/TRIM2, CMT2S/IGHMBP2, CMT2T/HSJ1, CMTRID/COX6A1, ARAN-NM/HINT and GAN/GAN), for the genes related to autosomal recessive hereditary spastic paraplegia with thin corpus callosum and axonal peripheral neuropathy (SPG7/PGN, SPG15/ZFYVE26, SPG21/ACP33, SPG35/FA2H, SPG46/GBA2, SPG55/C12orf65 and SPG56/CYP2U1), as well as for the causative gene of peripheral neuropathy with or without agenesis of the corpus callosum (SLC12A6). 26556829 2016
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.120 AlteredExpression group BEFREE Elevated neurofilament light chain (NFL) mRNA levels in prediabetic peripheral neuropathy. 24733614 2014
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
0.120 CausalMutation group CLINVAR