Annotation Detail

Information
Associated Genes
PTPN11
Associated Variants
PTPN11 p.Gln514Lys (p.Q514K) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gln514Glu (p.Q514E) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gln514Lys (p.Q514K) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
PTPN11 p.Gln514Glu (p.Q514E) ( ENST00000351677.7, ENST00000635625.1, ENST00000639857.2, ENST00000687906.1, ENST00000688597.1, ENST00000690210.1 )
Associated Disease
LEOPARD Syndrome
Source Database
DisGeNET
Description
PTPN11 gene mutations: linking the Gln510Glu mutation to the LEOPARD syndrome phenotype.
Pubmed
16733669
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.479558075756796
Year of publication
2006
Drugs