Annotation Detail
Information
- Associated Genes
- NEFL
- Associated Variants
-
NEFL p.Gln332Pro (p.Q332P)
(
ENST00000610854.2 )
NEFL p.Gln332Pro (p.Q332P) ( ENST00000610854.2 ) - Associated Disease
- CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (disorder)
- Source Database
- DisGeNET
- Description
- A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
- Pubmed
- 10841809
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.480542883744161
- Year of publication
- 2000
Drugs