Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Asn98Ser (p.N98S)
(
ENST00000610854.2 )
NEFL p.Asn98Ser (p.N98S) ( ENST00000610854.2 ) - Associated Disease
- Charcot-Marie-Tooth disease
- Source Database
- DisGeNET
- Description
- Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
- Pubmed
- 25552649
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.133059004424847
- Year of publication
- 2016
Drugs