Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations. 26607044

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Genomic Classification and Prognosis in Acute Myeloid Leukemia. 27276561

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia. 27683039

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. 27069254

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. 25914815

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog. 25708222

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia. 25395418

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Pectus excavatum and carinatum. 24821303

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Behavioral profile in RASopathies. 24458522

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q). 24931631

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Ras pathway mutations are prevalent in relapsed childhood acute lymphoblastic leukemia and confer sensitivity to MEK inhibition. 25253770

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome. 24150203

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings. 23321623

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR Clinical and biological implications of driver mutations in myelodysplastic syndromes. 24030381

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 23756559

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Atrioventricular canal defect in patients with RASopathies. 22781091

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling. 22058153

2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 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
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies. 22488759

2012
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Prenatal features of Noonan syndrome: prevalence and prognostic value. 21744363

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 CausalMutation CLINVAR Spectrum of mutations in Noonan syndrome and their correlation with phenotypes. 21784453

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1860991
Disease: NOONAN SYNDROME 3
NOONAN SYNDROME 3 		0.100 GeneticVariation CLINVAR Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group. 21680795

2011