Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Met129Val (p.M129V)
(
ENST00000379440.9,
ENST00000430350.2,
ENST00000457586.2,
ENST00000424424.2 )
PRNP p.Met129Val (p.M129V) ( ENST00000430350.2, ENST00000457586.2, ENST00000424424.2, ENST00000379440.9 ) - Associated Disease
- Prion Diseases
- Source Database
- DisGeNET
- Description
- In human prion diseases, the M129V prion protein polymorphism is known to confer susceptibility to the disease, determines PrPSc conformation and alters clinicopathological phenotypes.
- Pubmed
- 22062631
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.481088376032419
- Year of publication
- 2012
Drugs