NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.810 GeneticVariation UNIPROT Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885 2015
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
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
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
A 0.810 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.810 GeneticVariation UNIPROT
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C4693509
Disease:
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
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C4693509
Disease:
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
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C4693509
Disease:
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
dbSNP: rs59443585
rs59443585
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.800 GeneticVariation UNIPROT Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885 2015