NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation disease UNIPROT A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. 10841809 2000
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		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
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation disease CLINVAR
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		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
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation disease UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988 2002
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation disease UNIPROT Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885 2015
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation disease BEFREE Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. 11220745 2001
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		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
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987 2007
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation disease UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803 2004
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		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
CUI: C1843225
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder) 		0.950 GeneticVariation disease UNIPROT Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. 11220745 2001
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 GeneticVariation disease UNIPROT Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. 12566280 2003
CUI: C1843164
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F
Charcot-Marie-Tooth disease, demyelinating, Type 1F 		0.700 GeneticVariation disease UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803 2004
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.600 GeneticVariation disease UNIPROT The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. 14733962 2004
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.600 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987 2007
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.600 GeneticVariation disease UNIPROT NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. 25877835 2015
CUI: C4693509
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G 		0.600 GeneticVariation disease UNIPROT NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. 26645395 2016
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 GeneticVariation disease BEFREE Recently a set of mutations in the neurofilament light gene (NF-L) was reported in patients suffering from axonal and demyelinating forms of Charcot-Marie-Tooth disease (CMT1 and CMT2). 15535039 2004
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 GeneticVariation disease BEFREE A novel homozygous nonsense mutation in NEFL causes autosomal recessive Charcot-Marie-Tooth disease. 29191368 2018
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.300 GeneticVariation disease BEFREE NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype. 25877835 2015
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		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
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		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