Annotation Detail
Information
- Associated Genes
- ACP1
- Associated Variants
-
PTPN11 p.Tyr62Asn (p.Y62N)
(
ENST00000688597.1,
ENST00000392597.5,
ENST00000690210.1,
ENST00000639857.2,
ENST00000635625.1,
ENST00000687906.1,
ENST00000351677.7 )
PTPN11 p.Tyr62Asp (p.Y62D) ( ENST00000351677.7, ENST00000392597.5, ENST00000688597.1, ENST00000690210.1, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1 )
PTPN11 p.Tyr63Cys (p.Y63C) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Tyr62Asn (p.Y62N) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Tyr62Asp (p.Y62D) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Tyr63Cys (p.Y63C) ( ENST00000351677.7, ENST00000392597.5, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 ) - Associated Disease
- Noonan syndrome
- Source Database
- DisGeNET
- Description
- Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
- Pubmed
- 22711529
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00434306995328485
- Year of publication
- 2012
Drugs