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: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia. 16533526

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR The results suggest that PTPN11 mutations account for approximately 40% of Noonan syndrome patients, as has been reported previously. 15240615

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 16679933

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population. 16498234

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR The study design was to conduct a retrospective analysis of 3 yr of hGH treatment and genotyping of PTPN11 in patients with NS. 15956085

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR High incidence of malformation syndromes in a series of 1,073 children with cancer. 15712196

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. 18372317

2008
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 The natural history of Noonan syndrome: a long-term follow-up study. 16990350

2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. 12634870

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 GeneticVariation CLINVAR Our results document a strict correlation between the identity of the lesion and disease and demonstrate that NS-causative mutations have less potency for promoting SHP-2 gain of function than do leukemia-associated ones. 16358218

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation. 19251646

2009
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 Half the individuals with Noonan syndrome carry a heterozygous mutation of the nonreceptor-type protein tyrosine phosphatase, Src homology region 2-domain phosphatase-2 (SHP-2), encoded by PTPN11, which has a role in GH receptor signaling. 15985475

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR In addition, these fly models can be used for sensitized screens to identify novel interacting genes as well as for high-throughput screening of therapeutic compounds for NS and PTPN11-related cancers. 16399795

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group. 15385933

2004
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 PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. 12529711

2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors. 16631468

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity. 11704759

2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 CausalMutation CLINVAR Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway. 20030748

2010
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 Atrioventricular canal defect in patients with RASopathies. 22781091

2013