rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
T
0.810
CausalMutation
CLINVAR
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
27549087
2016
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.810
GeneticVariation
UNIPROT
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
25802885
2015
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
T
0.810
CausalMutation
CLINVAR
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
25877835
2015
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
T
0.810
CausalMutation
CLINVAR
Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E.
22288874
2012
rs28928910
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.810
GeneticVariation
BEFREE
The cellular pathology observed in hNF-L(E397K) mice differed from that recently reported in hNF-L(P22S ) mice, suggesting that overt CMT2E phenotypes may arise through different cellular mechanisms.
21493625
2011
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.810
GeneticVariation
UNIPROT
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
17052987
2007
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
T
0.810
CausalMutation
CLINVAR
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
17052987
2007
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.810
GeneticVariation
UNIPROT
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
15241803
2004
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.810
GeneticVariation
UNIPROT
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
12481988
2002
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.810
GeneticVariation
UNIPROT
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
11220745
2001
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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
rs28928910
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
A
0.810
CausalMutation
CLINVAR
rs28928910
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.810
GeneticVariation
UNIPROT
rs58982919
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
0.800
GeneticVariation
UNIPROT
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
26645395
2016
rs62636503
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
0.800
GeneticVariation
UNIPROT
NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
26645395
2016
rs58982919
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
0.800
GeneticVariation
UNIPROT
NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
25877835
2015
rs59443585
NEFL;MIR6841
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.800
GeneticVariation
UNIPROT
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
25802885
2015