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: rs58640772
rs58640772
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		TCTCCACGTAGCGC 0.700 CausalMutation CLINVAR
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) 		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) 		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) 		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 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 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 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) 		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) 		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 Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E. 22288874 2012
dbSNP: rs62636503
rs62636503
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C4693509
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		T 0.800 CausalMutation CLINVAR
dbSNP: rs1411999109
rs1411999109
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		T 0.700 CausalMutation CLINVAR
dbSNP: rs59443585
rs59443585
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs281865140
rs281865140
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		G 0.700 CausalMutation CLINVAR
dbSNP: rs62636505
rs62636505
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		G 0.700 CausalMutation CLINVAR
dbSNP: rs60261494
rs60261494
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		CT 0.800 CausalMutation CLINVAR
dbSNP: rs60261494
rs60261494
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		CT 0.800 CausalMutation CLINVAR
dbSNP: rs60261494
rs60261494
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1854154
Disease:
Charcot-Marie-Tooth disease, Type 2B1 		CT 0.700 CausalMutation CLINVAR
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C4693509
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		C 0.800 CausalMutation CLINVAR
dbSNP: rs267607538
rs267607538
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		C 0.710 CausalMutation CLINVAR
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		C 0.700 CausalMutation CLINVAR Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. 12566280 2003
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		C 0.700 CausalMutation CLINVAR 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: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		C 0.700 CausalMutation CLINVAR Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. 25552649 2015