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
- Creutzfeldt-Jakob Disease, Sporadic
- Source Database
- DisGeNET
- Description
- Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene.
- Pubmed
- 20872767
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0240823817450263
- Year of publication
- 2010
Drugs