Gene: PTPN11 ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 GeneticVariation disease CLINVAR Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 31064749 2019
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing. 28957739 2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor. 28681392 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11. 28483241 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination. 27659786 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines. 27238887 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway]. 25912702 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies. 24767283 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations. 24803665 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11). 24628801 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. 23726368 2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease 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 		0.910 CausalMutation disease CLINVAR Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation. 21677813 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling. 21803945 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling. 20308328 2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype? 21340158 2010
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link? 19582499 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia. 19509418 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients. 18454468 2008
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. 17910045 2008