Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Gln79Arg (p.Q79R)
(
ENST00000351677.7,
ENST00000392597.5,
ENST00000635625.1,
ENST00000639857.2,
ENST00000687906.1,
ENST00000688597.1,
ENST00000690210.1 )
PTPN11 p.Gln79Arg (p.Q79R) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- Noonan syndrome
- Source Database
- DisGeNET
- Description
- Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.
- Pubmed
- 16166557
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.694446819376149
- Year of publication
- 2005
Drugs