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
- Hepatolenticular Degeneration
- Source Database
- DisGeNET
- Description
- This study shows for the first time, to our knowledge, that the human PrP polymorphism M129V influences the onset of symptoms in patients with the copper storage disorder Wilson disease.
- Pubmed
- 16831968
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.128001297943832
- Year of publication
- 2006
Drugs