Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933386
rs28933386
PTPN11
0.720 GeneticVariation BEFREE One of the most common protein tyrosine phosphatase-2 (SHP2) mutations in Noonan syndrome is the N308D mutation, and it increases the activity of the protein. 30304563

2019
dbSNP: rs28933386
rs28933386
PTPN11
0.720 GeneticVariation BEFREE Redox Regulation of a Gain-of-Function Mutation (N308D) in SHP2 Noonan Syndrome. 29214238

2017
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy. 22465605

2012
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment. 21590266

2012
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR RASopathies: Clinical Diagnosis in the First Year of Life. 22190897

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260

2011
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 21340158

2010
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents. 20979190

2010
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. 15723289

2005
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Genotype-phenotype correlations in Noonan syndrome. 15001945

2004
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. 12161469

2002
dbSNP: rs28933386
rs28933386
PTPN11
G 0.720 CausalMutation CLINVAR Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001