Annotation Detail
Information
- Associated Genes
- NOTCH3
- Associated Variants
-
NOTCH3 p.Arg133Cys (p.R133C)
(
ENST00000263388.7 )
NOTCH3 p.Arg133Ser (p.R133S) ( ENST00000263388.7 )
NOTCH3 p.Arg133Cys (p.R133C) ( ENST00000263388.7 )
NOTCH3 p.Arg133Ser (p.R133S) ( ENST00000263388.7 ) - Associated Disease
- CADASIL Syndrome
- Source Database
- DisGeNET
- Description
- To verify whether true stenosis of the fibrotic white matter arteries is a key pathogenic event in CADASIL, we analyzed the thickness of walls (expressed as sclerotic index) and luminal diameters of penetrating arterioles in both grey matter and white matter of four CADASIL patients due to the C475T (R133C) mutation in the Notch3 gene and in 9 age-matched controls.
- Pubmed
- 15605982
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.537478390901604
- Year of publication
- 2004
Drugs