Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.110 GeneticVariation disease BEFREE We conclude that the NEFL N98S mutation is associated with a DI-CMT phenotype characterized by early-onset sensorimotor neuropathy delaying motor milestones, which may evolve into a severe and complex clinical picture including cerebellar ataxia. 26645395 2016
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
0.110 Biomarker disease HPO