Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Asp178Asn (p.D178N)
(
ENST00000430350.2,
ENST00000457586.2,
ENST00000424424.2,
ENST00000379440.9 )
PRNP p.Asp178Asn (p.D178N) ( ENST00000424424.2, ENST00000379440.9, ENST00000457586.2, ENST00000430350.2 ) - Associated Disease
- Prion Diseases
- Source Database
- DisGeNET
- Description
- Fatal familial insomnia (FFI) is a special subtype of genetic human prion diseases that is caused by the D178N mutation of the prion protein gene (PRNP).
- Pubmed
- 23430483
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.481088376032419
- Year of publication
- 2013
Drugs