Annotation Detail
Information
- Associated Genes
- PTPN11
- Associated Variants
-
PTPN11 p.Glu139Asp (p.E139D)
(
ENST00000392597.5,
ENST00000351677.7,
ENST00000635625.1,
ENST00000639857.2,
ENST00000687906.1,
ENST00000688597.1,
ENST00000690210.1 )
PTPN11 p.Glu139Asp (p.E139D) ( ENST00000351677.7, ENST00000687906.1, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000688597.1, ENST00000392597.5 )
PTPN11 p.Ile282Val (p.I282V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr472Met (p.T472M) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu139Asp (p.E139D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Glu139Asp (p.E139D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Ile282Val (p.I282V) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Thr472Met (p.T472M) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- LEOPARD Syndrome
- Source Database
- DisGeNET
- Description
- Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
- Pubmed
- 18372317
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.479558075756796
- Year of publication
- 2008
Drugs