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
- To describe the clinical features of Creutzfeldt-Jakob disease with a substitution of arginine for methionine (M232R substitution) at codon 232 (CJD232) of the prion protein gene (PRNP).
- Pubmed
- 17965961
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.858675488785102
- Year of publication
- 2007
Drugs