Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F
0.700 GeneticVariation UNIPROT Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. 15241803 2004
dbSNP: rs58982919
rs58982919
Entrez Id: 4747
Gene Symbol: NEFL
NEFL
CUI: C1843164
Disease:
Charcot-Marie-Tooth disease, demyelinating, Type 1F
0.700 GeneticVariation UNIPROT Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. 12566280 2003