Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Ala117Val (p.A117V)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Ala117Val (p.A117V) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Gerstmann-Straussler-Scheinker Disease
- Source Database
- DisGeNET
- Description
- We conclude that GSS A117V is indeed a prion disease although the relative contributions of (Ctm)PrP and prion propagation in neurodegeneration and their pathogenetic interaction remains to be established.
- Pubmed
- 24086135
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.600051301892636
- Year of publication
- 2013
Drugs