Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""." 16733669 2006
Entrez Id: 5604
Gene Symbol: MAP2K1
MAP2K1 		0.300 Biomarker disease GENOMICS_ENGLAND A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines. 25423878 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT A novel PTPN11 mutation in LEOPARD syndrome. 14961557 2003
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype. 24891296 2014
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive). 16679933 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 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 		0.700 CausalMutation disease CLINVAR Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation. 21407260 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. 15121796 2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 Biomarker disease GENOMICS_ENGLAND Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 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 		0.700 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 		0.700 CausalMutation disease CLINVAR Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 Biomarker disease GENOMICS_ENGLAND Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561 2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 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 		0.700 GeneticVariation disease UNIPROT Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling. 26742426 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes. 15987685 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 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 		0.700 Biomarker disease CTD_human Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.500 Biomarker disease GENOMICS_ENGLAND Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
Entrez Id: 5894
Gene Symbol: RAF1
RAF1 		0.500 Biomarker disease CTD_human Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 17603483 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. 15690106 2005
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.300 Biomarker disease CTD_human Genital lentigines in a 6-year-old boy with a family history of Cowden's disease: clinical and genetic evidence of the linkage between Bannayan-Riley-Ruvacalba syndrome and Cowden's disease. 11685670 2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 GeneticVariation disease UNIPROT Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 Biomarker disease GENOMICS_ENGLAND Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348 2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 CausalMutation disease CLINVAR Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 18253957 2008