Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Gly60Ala (p.G60A)
(
ENST00000690210.1,
ENST00000392597.5,
ENST00000351677.7,
ENST00000687906.1,
ENST00000639857.2,
ENST00000635625.1,
ENST00000688597.1 )
PTPN11 p.Gly60Val (p.G60V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly60Ala (p.G60A) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gly60Val (p.G60V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- neuroblastoma
- Source Database
- DisGeNET
- Description
- The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of function PTPN11 mutations may play an important role in the pathogenesis of solid tumors associated with Noonan syndrome.
- Pubmed
- 18328949
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121085767488321
- Year of publication
- 2008
Drugs