Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Tyr145Ter (p.Y145*)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Tyr145Ter (p.Y145*) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Prion Diseases
- Source Database
- DisGeNET
- Description
- The C-terminally-truncated human prion protein variant Y145Stop (or PrP23-144), associated with a familial prion disease, provides a valuable model for studying the fundamental properties of protein amyloids.
- Pubmed
- 22002245
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.481088376032419
- Year of publication
- 2011
Drugs