DisGeNET - a database of gene-disease associations

NEFL, neurofilament light, 4747

N. diseases: 247; N. variants: 26

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs62636503

Entrez Id:	4747;102465506
Gene Symbol:	NEFL;MIR6841

NEFL;MIR6841

CUI:	C4693509
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G

0.800

GeneticVariation

UNIPROT

NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.

25877835

2015

dbSNP:

rs59443585

Entrez Id:	4747;102465506
Gene Symbol:	NEFL;MIR6841

NEFL;MIR6841

CUI:	C1843225
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)

0.800

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

Entrez Id:	4747
Gene Symbol:	NEFL

NEFL

CUI:	C4693509
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G

0.800

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.

17052987

2007

dbSNP:

rs59443585

Entrez Id:	4747;102465506
Gene Symbol:	NEFL;MIR6841

NEFL;MIR6841

CUI:	C1843225
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)

0.800

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.

17052987

2007

dbSNP:

rs62636503

Entrez Id:	4747;102465506
Gene Symbol:	NEFL;MIR6841

NEFL;MIR6841

CUI:	C4693509
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G

0.800

GeneticVariation

UNIPROT

Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.

17052987

2007

dbSNP:

rs58982919

Entrez Id:	4747
Gene Symbol:	NEFL

NEFL

CUI:	C4693509
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G

0.800

GeneticVariation

UNIPROT

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.

14733962

2004

dbSNP:

rs59443585

Entrez Id:	4747;102465506
Gene Symbol:	NEFL;MIR6841

NEFL;MIR6841

CUI:	C1843225
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)

0.800

GeneticVariation

UNIPROT

Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

15241803

2004

dbSNP:

rs62636503

Entrez Id:	4747;102465506
Gene Symbol:	NEFL;MIR6841

NEFL;MIR6841

CUI:	C4693509
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G

0.800

GeneticVariation

UNIPROT

The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.

14733962

2004

dbSNP:

rs59443585

Entrez Id:	4747;102465506
Gene Symbol:	NEFL;MIR6841

NEFL;MIR6841

CUI:	C1843225
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)

0.800

GeneticVariation

UNIPROT

A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.

12481988

2002

dbSNP:

rs59443585

Entrez Id:	4747;102465506
Gene Symbol:	NEFL;MIR6841

NEFL;MIR6841

CUI:	C1843225
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)

0.800

GeneticVariation

UNIPROT

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

11220745

2001

dbSNP:

rs59443585

Entrez Id:	4747;102465506
Gene Symbol:	NEFL;MIR6841

NEFL;MIR6841

CUI:	C1843225
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)

0.800

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

dbSNP:

rs58982919

Entrez Id:	4747
Gene Symbol:	NEFL

NEFL

CUI:	C4693509
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G

0.800

CausalMutation

CLINVAR

dbSNP:

rs59443585

Entrez Id:	4747;102465506
Gene Symbol:	NEFL;MIR6841

NEFL;MIR6841

CUI:	C1843225
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs60261494

Entrez Id:	4747
Gene Symbol:	NEFL

NEFL

CUI:	C1843225
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)

0.800

GeneticVariation

UNIPROT

dbSNP:

rs60261494

Entrez Id:	4747
Gene Symbol:	NEFL

NEFL

CUI:	C1843225
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs60261494

Entrez Id:	4747
Gene Symbol:	NEFL

NEFL

CUI:	C1843164
Disease:

Charcot-Marie-Tooth disease, demyelinating, Type 1F

0.800

GeneticVariation

UNIPROT

dbSNP:

rs60261494

Entrez Id:	4747
Gene Symbol:	NEFL

NEFL

CUI:	C1843164
Disease:

Charcot-Marie-Tooth disease, demyelinating, Type 1F

0.800

CausalMutation

CLINVAR

dbSNP:

rs62636503

Entrez Id:	4747;102465506
Gene Symbol:	NEFL;MIR6841

NEFL;MIR6841

CUI:	C4693509
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607538

Entrez Id:	4747
Gene Symbol:	NEFL

NEFL

CUI:	C0751036
Disease:

Hereditary Motor and Sensory Neuropathy Type I

0.710

GeneticVariation

BEFREE

NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1.

18758688

2008

dbSNP:

rs267607538

Entrez Id:	4747
Gene Symbol:	NEFL

NEFL

CUI:	C0751036
Disease:

Hereditary Motor and Sensory Neuropathy Type I

0.710

CausalMutation

CLINVAR

dbSNP:

rs58982919

Entrez Id:	4747
Gene Symbol:	NEFL

NEFL

CUI:	C1843225
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)

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

Entrez Id:	4747
Gene Symbol:	NEFL

NEFL

CUI:	C1843225
Disease:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)

0.700

CausalMutation

CLINVAR

N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy.

27206872

2016

dbSNP:

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:

rs587777881

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:

rs587777882

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