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: 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: 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: 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: 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: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C4693509
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.800 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987 2007
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: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C4693509
Disease:
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.800 GeneticVariation UNIPROT The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. 14733962 2004
dbSNP: rs60261494
rs60261494
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.800 GeneticVariation UNIPROT
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 		0.800 GeneticVariation UNIPROT
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: 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: rs267607538
rs267607538
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0751036
Disease:
Hereditary Motor and Sensory Neuropathy Type I 		0.710 GeneticVariation BEFREE NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. 18758688 2008
dbSNP: rs121913663
rs121913663
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		A 0.700 CausalMutation CLINVAR
dbSNP: rs199422214
rs199422214
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		A 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0239830
Disease:
Hand muscle atrophy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0728829
Disease:
Congenital pes cavus 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0270913
Disease:
Charcot-Marie-Tooth disease, Type 1C 		A 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0878575
Disease:
Peripheral demyelination 		A 0.700 CausalMutation 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: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0031117
Disease:
Peripheral Neuropathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1836450
Disease:
Distal lower limb muscle weakness 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1857640
Disease:
Decreased nerve conduction velocity 		A 0.700 CausalMutation CLINVAR
dbSNP: rs28928910
rs28928910
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0031117
Disease:
Peripheral Neuropathy 		A 0.700 GeneticVariation CLINVAR