Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59443585
rs59443585
0.800 GeneticVariation UNIPROT Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885

2015

dbSNP: rs59443585
rs59443585
0.800 GeneticVariation UNIPROT The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan. 22206013

2011

dbSNP: rs59443585
rs59443585
0.800 GeneticVariation UNIPROT Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. 17052987

2007

dbSNP: rs59443585
rs59443585
0.800 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803

2004

dbSNP: rs59443585
rs59443585
0.800 GeneticVariation UNIPROT A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. 12481988

2002

dbSNP: rs59443585
rs59443585
0.800 GeneticVariation UNIPROT Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. 11220745

2001

dbSNP: rs59443585
rs59443585
0.800 GeneticVariation 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

dbSNP: rs59443585
rs59443585
G 0.800 CausalMutation CLINVAR