Annotation Detail
Information
- Associated Genes
- PRNP
- Associated Variants
-
PRNP p.Gln217Arg (p.Q217R)
(
ENST00000379440.9,
ENST00000424424.2,
ENST00000430350.2,
ENST00000457586.2 )
PRNP p.Gln217Arg (p.Q217R) ( ENST00000379440.9, ENST00000424424.2, ENST00000430350.2, ENST00000457586.2 ) - Associated Disease
- Central neuroblastoma
- Source Database
- DisGeNET
- Description
- We have examined the role of molecular chaperones in the folding of normal and mutant PrP Q217R (PrP(217)) in transfected neuroblastoma cells.
- Pubmed
- 10970892
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00434306995328485
- Year of publication
- 2000
Drugs