| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.950 | GeneticVariation | disease | UNIPROT | Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. | 25802885 | 2015 | ||||
|
0.950 | 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 | ||||
|
0.950 | GeneticVariation | disease | UNIPROT | The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. | 22206013 | 2011 | ||||
|
0.950 | GeneticVariation | disease | UNIPROT | Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. | 17052987 | 2007 | ||||
|
0.950 | GeneticVariation | disease | UNIPROT | Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. | 15241803 | 2004 | ||||
|
0.950 | GeneticVariation | disease | UNIPROT | A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. | 12481988 | 2002 | ||||
|
0.950 | GeneticVariation | disease | UNIPROT | Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. | 11220745 | 2001 | ||||
|
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 | ||||
|
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 | ||||
|
0.950 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.950 | Biomarker | disease | CTD_human |