Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 Biomarker disease BEFREE Charcot-Marie-Tooth disease Type 2E/1F (CMT2E/1F) is a peripheral neuropathy caused by mutations in neurofilament protein L (NFL), which is one of five neurofilament subunit proteins that co-assemble to form neurofilaments in vivo. 31574566 2019
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 CausalMutation disease CLINVAR NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. 26645395 2016
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 CausalMutation disease CLINVAR Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. 27549087 2016
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 CausalMutation disease CLINVAR N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy. 27206872 2016
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 CausalMutation disease CLINVAR NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. 25877835 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 GeneticVariation disease BEFREE Cytoskeletal abnormalities were found in neurons from a CMT2E (NEFL) patient and corroborated by a mouse model of the same NEFL point mutation. 25448007 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 CausalMutation disease CLINVAR Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E. 26109717 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 GeneticVariation disease UNIPROT Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 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 		0.950 CausalMutation disease CLINVAR 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 		0.950 CausalMutation disease CLINVAR Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. 25448007 2015
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 CausalMutation disease 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
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 GeneticVariation disease 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
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 Biomarker disease GENOMICS_ENGLAND Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol. 23618875 2013
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 CausalMutation disease CLINVAR Expressing hNF-LE397K results in abnormal gaiting in a transgenic model of CMT2E. 22288874 2012
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 CausalMutation disease CLINVAR The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013 2011
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 CausalMutation disease CLINVAR Muscle pathology without severe nerve pathology in a new mouse model of Charcot-Marie-Tooth disease type 2E. 21493625 2011
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 GeneticVariation disease UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013 2011
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 GeneticVariation disease BEFREE Mutations in neurofilament light (NF-L) have been linked to Charcot-Marie-Tooth disease type 2E (CMT2E) in humans. 21493625 2011
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 CausalMutation disease CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889 2011
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 CausalMutation disease CLINVAR 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 		0.950 CausalMutation disease CLINVAR Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987 2007
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987 2007
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 CausalMutation disease CLINVAR The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. 14733962 2004
Entrez Id: 4747
Gene Symbol: NEFL
NEFL 		0.950 GeneticVariation disease UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803 2004