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