Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777880
rs587777880
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.700 GeneticVariation UNIPROT Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885 2015
dbSNP: rs587777880
rs587777880
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
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: rs587777880
rs587777880
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.700 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987 2007
dbSNP: rs587777880
rs587777880
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.700 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803 2004
dbSNP: rs587777880
rs587777880
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.700 GeneticVariation UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988 2002
dbSNP: rs587777880
rs587777880
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.700 GeneticVariation UNIPROT Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. 11220745 2001
dbSNP: rs587777880
rs587777880
Entrez Id: 4747;102465506
Gene Symbol: NEFL;MIR6841
NEFL;MIR6841
CUI: C1843225
Disease:
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
0.700 GeneticVariation 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