Annotation Detail

Information
Associated Genes
PTPN11
Associated Variants
PTPN11 p.Glu76Lys (p.E76K) ( ENST00000392597.5, ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Gln (p.E76Q) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000690210.1, ENST00000687906.1, ENST00000688597.1 )
PTPN11 p.Glu76Lys (p.E76K) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu76Gln (p.E76Q) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
Associated Disease
Myeloproliferative disease
Source Database
DisGeNET
Description
Our results showed that SHP-2 E76K mutation caused myeloproliferative disease in mice, while overexpression of WT SHP-2 decreased hematopoietic potential of the transduced cells in recipient animals.
Pubmed
16371368
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00217153497664243
Year of publication
2006
Drugs