Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Met232Arg (p.M232R)
(
ENST00000424424.2,
ENST00000379440.9,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Met232Arg (p.M232R) ( ENST00000430350.2, ENST00000379440.9, ENST00000424424.2, ENST00000457586.2 ) - Associated Disease
- Creutzfeldt-Jakob disease
- Source Database
- DisGeNET
- Description
- Creutzfeldt-Jakob disease with the M232R mutation in the prion protein gene in two cases showing different disease courses: a clinicopathological study.
- Pubmed
- 21983261
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.858675488785102
- Year of publication
- 2012
Drugs