Gene: NEFL ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype. 26645395

2016
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy. 27206872

2016
dbSNP: rs587777880
rs587777880
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885

2015
dbSNP: rs587777881
rs587777881
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885

2015
dbSNP: rs587777882
rs587777882
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885

2015
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR 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
NEFL
C 0.700 CausalMutation CLINVAR Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties. 25448007

2015
dbSNP: rs62636502
rs62636502
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885

2015
dbSNP: rs587777880
rs587777880
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
dbSNP: rs587777881
rs587777881
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
dbSNP: rs587777882
rs587777882
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR Genetic spectrum of hereditary neuropathies with onset in the first year of life. 21840889

2011
dbSNP: rs62636502
rs62636502
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. 19158810

2009
dbSNP: rs587777880
rs587777880
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987

2007
dbSNP: rs587777881
rs587777881
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987

2007
dbSNP: rs587777882
rs587777882
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987

2007
dbSNP: rs62636502
rs62636502
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987

2007
dbSNP: rs587777880
rs587777880
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803

2004
dbSNP: rs587777881
rs587777881
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803

2004
dbSNP: rs587777882
rs587777882
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803

2004
dbSNP: rs62636502
rs62636502
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803

2004
dbSNP: rs58982919
rs58982919
NEFL
C 0.700 CausalMutation CLINVAR Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. 12566280

2003
dbSNP: rs587777880
rs587777880
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988

2002
dbSNP: rs587777881
rs587777881
NEFL ; MIR6841
0.700 GeneticVariation UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988

2002