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, AXONAL, TYPE 2E (disorder)
- Source Database
- DisGeNET
- Description
- We observed a novel NEFL missense mutation in a second CMT family, providing supporting evidence that CMT2E is caused by NEFL gene mutations.
- Pubmed
- 11220745
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.480542883744161
- Year of publication
- 2001
Drugs