Annotation Detail
Information
- Associated Genes
- NOTCH3
- Associated Variants
-
NOTCH3 p.Ala202= (p.A202=)
(
ENST00000263388.7 )
NOTCH3 p.Thr101= (p.T101=) ( ENST00000263388.7 )
rs11249433
NOTCH4 p.Asp272Gly (p.D272G) ( ENST00000375023.3 )
NOTCH4 c.-25C>T ( ENST00000375023.3 )
NOTCH1 c.*126G>A ( ENST00000651671.1, ENST00000680133.1, ENST00000680218.1, ENST00000680668.1, ENST00000680778.1 )
NOTCH3 p.Ala202= (p.A202=) ( ENST00000263388.7 )
NOTCH3 p.Thr101= (p.T101=) ( ENST00000263388.7 )
rs11249433
NOTCH4 p.Asp272Gly (p.D272G) ( ENST00000375023.3 )
NOTCH4 c.-25C>T ( ENST00000375023.3 )
NOTCH1 c.*126G>A ( ENST00000651671.1, ENST00000680133.1, ENST00000680218.1, ENST00000680668.1, ENST00000680778.1 ) - Associated Disease
- Noninfiltrating Intraductal Carcinoma
- Source Database
- DisGeNET
- Description
- A total of 100 invasive ductal carcinoma (IDC) and 50 ductal carcinoma in situ (DCIS) patients and 100 usual ductal hyperplasia (UDH) controls were genotyped for the following Notch receptor single nucleotide polymorphisms (SNPs) using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry: Notch1, rs3124591; Notch2, rs11249433; Notch3, rs3815188, and rs1043994; and Notch4, rs367398, and rs520692.
- Pubmed
- 25120811
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs