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
- juvenile myelomonocytic leukemia
- Source Database
- DisGeNET
- Description
- Ptpn11(E76K) mutation is the most common and most active Ptpn11 mutation found in JMML and acute leukemias.
- Pubmed
- 21930766
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.582212083205456
- Year of publication
- 2011
Drugs