NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Disease: Charcot-Marie-Tooth Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.050 GeneticVariation BEFREE We have analyzed a mouse model of Charcot-Marie-Tooth disease 2E (CMT2E) harboring a heterozygous p.Asn98Ser (p.N98S) Nefl mutation, whose human counterpart results in a severe, early-onset neuropathy. 29940160 2018
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.050 GeneticVariation BEFREE Five new unrelated patients with CMT carrying the <i>NEFL</i> mutations P8R and N98S and the novel variant L311P were identified. 28501821 2017
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.050 GeneticVariation BEFREE We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia. 26645395 2016
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.050 GeneticVariation BEFREE Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. 25552649 2015
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C0007959
Disease:
Charcot-Marie-Tooth Disease 		0.050 GeneticVariation BEFREE In these sequence variants, 5 variants were polymorphisms, including 3 single nucleotide polymorphisms (SNPs), and 3 other missense mutations (Pro22Thr, Asn97Ser and Ala148Val) were found in the patients with CMT phenotype. 12477167 2002