Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Asn98Ser (p.N98S)
(
ENST00000610854.2 )
NEFL p.Glu90Lys (p.E90K) ( ENST00000610854.2 )
NEFL p.Asn98Ser (p.N98S) ( ENST00000610854.2 )
NEFL p.Glu90Lys (p.E90K) ( ENST00000610854.2 ) - Associated Disease
- Charcot-Marie-Tooth disease, demyelinating, Type 1F
- Source Database
- DisGeNET
- Description
- Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
- Pubmed
- 12566280
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.48
- Year of publication
- 2003
Drugs