Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 27549087

2016
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.810 GeneticVariation UNIPROT Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885

2015
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. 25877835

2015
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR To investigate the effects of NEFL Glu396Lys mutation on the expression and assembly of neurofilaments (NFs) in cutaneous nerve fibers of patients with Charcot-Marie-Tooth disease type 2E (CMT2E). 26109717

2015
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.810 GeneticVariation BEFREE Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E. 24887401

2014
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie- Tooth disease type 2E. 24887401

2014
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E. 22288874

2012
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E. 21493625

2011
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.810 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. 19158810

2009
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.810 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987

2007
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987

2007
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.810 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803

2004
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
T 0.810 CausalMutation CLINVAR The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. 14733962

2004
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.810 GeneticVariation UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988

2002
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.810 GeneticVariation UNIPROT Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. 11220745

2001
dbSNP: rs62636503
rs62636503
NEFL ; MIR6841
0.810 GeneticVariation UNIPROT A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809

2000