Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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, 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 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