Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Arg208His (p.R208H)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Arg208His (p.R208H) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Creutzfeldt-Jakob disease
- Source Database
- DisGeNET
- Description
- Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment.
- Pubmed
- 15739100
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.858675488785102
- Year of publication
- 2005
Drugs