CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
|
12566280 |
2003 |
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
CausalMutation
|
disease |
CLINVAR |
Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals.
|
12477167 |
2002 |
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 |
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 |
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 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
|
10841809 |
2000 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
|
0.950 |
Biomarker
|
disease |
CTD_human |
|
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
0.700 |
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 |
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 |
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 |
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
|
10841809 |
2000 |
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Charcot-Marie-Tooth disease, demyelinating, Type 1F
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
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 |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
|
0.600 |
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 |
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 |
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 |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
|
10841809 |
2000 |
CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Schizophrenia
|
0.350 |
AlteredExpression
|
disease |
LHGDN |
Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.
|
19034380 |
2009 |