×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
CLINVAR
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
Biomarker
disease
CTD_human
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
Biomarker
disease
BEFREE
Charcot-Marie-Tooth disease Type 2E /1F (CMT2E /1F) is a peripheral neuropathy caused by mutations in neurofilament protein L (NFL), which is one of five neurofilament subunit proteins that co-assemble to form neurofilaments in vivo.
31574566
2019
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
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
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
Biomarker
disease
GENOMICS_ENGLAND
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
10841809
2000
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
UNIPROT
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
12481988
2002
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
25448007
2015
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
17052987
2007
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
UNIPROT
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
17052987
2007
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
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
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
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
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
BEFREE
Cytoskeletal abnormalities were found in neurons from a CMT2E (NEFL ) patient and corroborated by a mouse model of the same NEFL point mutation.
25448007
2015
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E.
22288874
2012
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
BEFREE
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E .
11220745
2001
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
UNIPROT
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E .
11220745
2001
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
21840889
2011
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
Biomarker
disease
GENOMICS_ENGLAND
Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol.
23618875
2013
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
12477167
2002
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
UNIPROT
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
25802885
2015
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.
27549087
2016
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E.
21493625
2011
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
UNIPROT
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
15241803
2004
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
GeneticVariation
disease
BEFREE
Mutations in neurofilament light (NF-L ) have been linked to Charcot-Marie-Tooth disease type 2E (CMT2E ) in humans.
21493625
2011
×
Entrez Id:
4747
Gene Symbol:
NEFL
NEFL
0.950
CausalMutation
disease
CLINVAR
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
12566280
2003