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
- Prion Diseases
- Source Database
- DisGeNET
- Description
- Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene.
- Pubmed
- 10506086
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.481088376032419
- Year of publication
- 1999
Drugs