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
- Phenotype of a homozygous CADASIL patient in comparison to 9 age-matched heterozygous patients with the same R133C Notch3 mutation.
- Pubmed
- 11486103
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.537478390901604
- Year of publication
- 2001
Drugs