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, Sporadic
- Source Database
- DisGeNET
- Description
- The authors investigated a patient who died of apparent sporadic Creutzfeldt-Jakob disease (CJD) but carried a R208H substitution in the prion protein (PrP).
- Pubmed
- 15753435
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0240823817450263
- Year of publication
- 2005
Drugs