Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Pro102Leu (p.P102L)
(
ENST00000457586.2,
ENST00000430350.2,
ENST00000379440.9,
ENST00000424424.2 )
PRNP p.Pro102Leu (p.P102L) ( ENST00000379440.9, ENST00000457586.2, ENST00000430350.2, ENST00000424424.2 ) - Associated Disease
- Gerstmann-Straussler-Scheinker Disease
- Source Database
- DisGeNET
- Description
- Substitution of leucine for proline at codon 102 of the prion protein gene has been found in several families with the disease; this mutation is genetically linked to GSS.
- Pubmed
- 1685324
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.600051301892636
- Year of publication
- 1991
Drugs