Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Glu211Gln (p.E211Q)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Glu211Gln (p.E211Q) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Creutzfeldt-Jakob disease
- Source Database
- DisGeNET
- Description
- Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
- Pubmed
- 10790216
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.858675488785102
- Year of publication
- 2000
Drugs