Gene: PTPN11 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376607329
rs376607329
PTPN11
A 0.700 CausalMutation CLINVAR

dbSNP: rs397507545
rs397507545
PTPN11
A 0.700 CausalMutation CLINVAR

dbSNP: rs398122859
rs398122859
PTPN11
A 0.700 CausalMutation CLINVAR

dbSNP: rs398122858
rs398122858
PTPN11
AAGAACACAGGGGAGAGCA 0.700 CausalMutation CLINVAR

dbSNP: rs397507520
rs397507520
PTPN11
C 0.700 CausalMutation CLINVAR

dbSNP: rs397507531
rs397507531
PTPN11
C 0.700 CausalMutation CLINVAR

dbSNP: rs397507545
rs397507545
PTPN11
C 0.700 CausalMutation CLINVAR

dbSNP: rs398122861
rs398122861
PTPN11
C 0.700 CausalMutation CLINVAR

dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918456
rs121918456
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918459
rs121918459
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918460
rs121918460
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs121918466
rs121918466
PTPN11
G 0.700 CausalMutation CLINVAR

dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 20308328

2010
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. 28483241

2017
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492

2015
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 18253957

2008
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 19509418

2009
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685

2005
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation. 14974085

2004
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. 28957739

2018
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001
dbSNP: rs28933386
rs28933386
PTPN11
G 0.700 CausalMutation CLINVAR Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 23726368

2013