Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Glu219Lys (p.E219K)
(
ENST00000430350.2,
ENST00000457586.2,
ENST00000424424.2,
ENST00000379440.9 )
PRNP p.Glu219Lys (p.E219K) ( ENST00000424424.2, ENST00000379440.9, ENST00000457586.2, ENST00000430350.2 ) - Associated Disease
- Creutzfeldt-Jakob Disease, Sporadic
- Source Database
- DisGeNET
- Description
- Prion protein gene (PRNP) E219K is a human polymorphism commonly occurring in Asian populations but is rarely found in patients with sporadic Creutzfeldt-Jakob disease (CJD).
- Pubmed
- 19074151
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0240823817450263
- Year of publication
- 2009
Drugs