Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
Charcot-Marie-Tooth disease, demyelinating, Type 1F
0.700 Biomarker 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

Entrez Id: 4747
Gene Symbol: NEFL
NEFL
Charcot-Marie-Tooth disease, demyelinating, Type 1F
0.700 Biomarker 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

Entrez Id: 4747
Gene Symbol: NEFL
NEFL
Charcot-Marie-Tooth disease, demyelinating, Type 1F
0.700 Biomarker GENOMICS_ENGLAND