Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.His187Arg (p.H187R)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.His187Arg (p.H187R) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- dementia
- Source Database
- DisGeNET
- Description
- Described is a large family with an autosomal dominant dementia associated with an H187R mutation in the prion protein gene (PRNP).
- Pubmed
- 15824374
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0278562806923505
- Year of publication
- 2005
Drugs