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 CausalMutation disease CLINVAR A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy. 15889278 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia. 15725481 2005
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 Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients. 18331608 2008
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 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 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 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 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492 2015
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 Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
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 Genetics and variation in phenotype in Noonan syndrome. 15539800 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature. 15723289 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 18253957 2008
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 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 syndrome: clinical dilemmas in differential diagnosis of RASopathies. 24767283 2014
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 Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923 2011
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 Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. 17339163 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.910 CausalMutation disease CLINVAR Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997 2004