Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 Biomarker disease BEFREE In summary, we developed a human tridimensional in vitro system that models length-dependent axonopathies, recapitulates key pathophysiologic features of CMT2E, and should facilitate the identification of new therapeutic compounds for CMT. 31715019 2019
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE Hearing impairment is often linked to CMT due to pathogenic variants of NEFL, especially p.(Glu90Lys) and p.(Asn98Ser), and in our case p.(Glu90Gly). 30734407 2019
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease. 29191368 2018
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease 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
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 Biomarker disease BEFREE To perform a cross-sectional study to determine whether plasma neurofilament light chain (NfL) concentration is elevated in patients with Charcot-Marie-Tooth disease (CMT) and if it correlates with disease severity. 29321234 2018
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE Charcot-Marie-Tooth neuropathy (CMT) 2E/1F is caused by mutations in the neurofilament light-chain polypeptide (NEFL) gene. 27649278 2017
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE Six novel CMT-associated gene mutations including BSCL2 (c.461C>T), LITAF (c.32C>G), MFN2 (c.497C>T), GARS (c.794C>T), NEFL (c.280C>T), and MPZ (c.440T>C) were discovered. 27862672 2017
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 Biomarker disease BEFREE Early sensory pathology in CMT2E could provide a unifying hypothesis for the convergence of pathology observed in CMT. 27643807 2017
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE To analyse and describe the clinical and genetic spectrum of Charcot-Marie-Tooth disease (CMT) caused by mutations in the neurofilament light polypeptide gene (<i>NEFL</i>). 28501821 2017
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE We identified a similar aggregation-inducing mechanism in NEFL (neurofilament light) and FUS (fused in sarcoma), in which mutations are known to cause aggregation in Charcot-Marie-Tooth disease and amyotrophic lateral sclerosis, respectively. 27040688 2016
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease 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
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. 25877835 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. 25552649 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 Biomarker disease BEFREE iPSC lines from patients with two distinct forms of axonal CMT (CMT2A and CMT2E) were differentiated into spinal cord motor neurons and used to study axonal structure and function and electrophysiological properties in vitro. 25448007 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 Biomarker disease BEFREE In MPZ-associated CMT, increased CSAs were found in the median nerve at wrist and in the great auricular nerve, whereas it was not increased in patients with NEFL-associated CMT. 25091364 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 Biomarker disease MGD Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype. 25552649 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE Mutations in the neurofilament light chain (NEFL) gene mostly cause autosomal dominant axonal Charcot-Marie- Tooth neuropathy (CMT2E). 24887401 2014
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 Biomarker disease BEFREE Although evidence suggests that there is a correlation between NEFL expression and cancer, studies regarding the role of the NEFL protein have been mostly limited to neurological diseases, such as Charcot-Marie-Tooth's disease (CMT). 23992471 2014
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE NEFL mutations have been previously linked to Charcot-Marie-Tooth disease in humans. 25264603 2014
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE For example, neurofilament light protein (NEFL) mutants causing Charcot-Marie-Tooth disease induce misassembly of neurofilaments. 23618875 2013
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE This study demonstrated normal function of the low-molecular-weight neurofilament protein (NFL) in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease (CMT) due to mutations in the Nefl gene. 22155564 2012
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 Biomarker disease BEFREE In the context of inherited neuropathy, giant axons are typically associated with autosomal recessive giant axonal neuropathy caused by gigaxonin mutations but have also been reported in association with NEFL- and SH3TC2-associated Charcot-Marie-Tooth disease. 22734908 2012
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. 19158810 2009
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease LHGDN NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. 18758688 2008
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.300 GeneticVariation disease BEFREE We performed a mutational analysis of NEFL in a series of 177 index cases with CMT and without mutations in the genes for peripheral myelin protein zero (MPZ), peripheral myelin protein 22 (PMP22) and connexin 32 (GJB1); the motor nerve conduction velocity (MNCV) at the median nerve was below 38 m/s in 76 cases and above 38 m/s in 101. 17052987 2007