Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Glu200Lys (p.E200K)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Glu200Lys (p.E200K) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Creutzfeldt-Jakob Disease, Familial
- Source Database
- DisGeNET
- Description
- A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein.
- Pubmed
- 10360778
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0122148842436137
- Year of publication
- 1999
Drugs