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, demyelinating, Type 1F
- Source Database
- DisGeNET
- Description
- Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
- Pubmed
- 11220745
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2001
Drugs