rs58982919, NEFL

N. diseases: 10
Disease: Charcot-Marie-Tooth disease, demyelinating, Type 1F ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Charcot-Marie-Tooth disease, demyelinating, Type 1F
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
Charcot-Marie-Tooth disease, demyelinating, Type 1F
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