Annotation Detail
Information
- Associated Genes
- WRN
- Associated Variants
-
WRN p.Val114Ile (p.V114I)
(
ENST00000298139.7 )
WRN p.Val114Ile (p.V114I) ( ENST00000298139.7 ) - Associated Disease
- Werner syndrome
- Source Database
- DisGeNET
- Description
- Interestingly, a WRN cDNA expression vector bearing a valine at position 114 instead of isoleucine significantly affected cholesterol efflux in WS fibroblasts.
- Pubmed
- 23523974
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.615040193987037
- Year of publication
- 2013
Drugs