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
- Creutzfeldt-Jakob Disease, Sporadic
- Source Database
- DisGeNET
- Description
- We provide a detailed analysis on clinical presentation and first diagnosis in a large group of patients with sCJD with respect to M129V genotype and prion protein type.
- Pubmed
- 25022936
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0240823817450263
- Year of publication
- 2014
Drugs