Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR ClinGen's RASopathy Expert Panel consensus methods for variant interpretation. 29493581

2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu<sup>261</sup> , Leu<sup>262</sup> , and Arg<sup>265</sup> in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel disease-causing mutation cluster. 28074573

2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders. 29084544

2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. 28628100

2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations. 27884971

2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease. 27460089

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR In this study, twenty Noonan syndrome patients with PTPN11 mutations were included. 26817465

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. 25914815

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Diagnosis of Noonan syndrome and related disorders using target next generation sequencing. 24451042

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Juvenile myelomonocytic leukaemia and Noonan syndrome. 25097206

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Clinical and Molecular Findings of Tunisian Patients with RASopathies. 25337068

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome. 24150203

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome. 24039098

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish. 24718990

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions. 24225993

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome. 25383899

2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Protein tyrosine phosphatase SHP2/PTPN11 mistargeting as a consequence of SH2-domain point mutations associated with Noonan Syndrome and leukemia. 23584145

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome. 23756559

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Atrioventricular canal defect in patients with RASopathies. 22781091

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR The integrated landscape of driver genomic alterations in glioblastoma. 23917401

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Clinical and molecular analysis of RASopathies in a group of Turkish patients. 22420426

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Clinical and biological implications of driver mutations in myelodysplastic syndromes. 24030381

2013