Gene: PTPN11 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918453
rs121918453
PTPN11
C 0.700 GeneticVariation CLINVAR PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings. 18759865

2009
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation]. 17546245

2007
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Behavioral profile in RASopathies. 24458522

2014
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. 26607044

2016
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 16377799

2006
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. 15723289

2005
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. 15248152

2004
dbSNP: rs121918454
rs121918454
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome. 15956085

2005
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. 12717436

2003
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287

2009
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome. 19020799

2008
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. 15985475

2005
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Genotype differences in cognitive functioning in Noonan syndrome. 19077116

2009
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome. 17661820

2007
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. 17020470

2006
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism. 15996221

2005
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells. 15761018

2005
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. 16377799

2006
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685

2005
dbSNP: rs121918455
rs121918455
PTPN11
G 0.700 CausalMutation CLINVAR Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome. 15248152

2004