Annotation Detail

Information
Associated Genes
NEFL
Associated Variants
NEFL p.Pro8Arg (p.P8R) ( ENST00000610854.2 )
NEFL p.Pro8Arg (p.P8R) ( ENST00000610854.2 )
Associated Disease
Charcot-Marie-Tooth disease
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.133059004424847
Year of publication
NA
Drugs