Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 1969
Gene Symbol: EPHA2
EPHA2 		0.300 Biomarker disease CTD_human Regulation of apoptosis in HL-1 cardiomyocytes by phosphorylation of the receptor tyrosine kinase EphA2 and protection by lithocholic acid. 22845314 2012
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.300 Biomarker disease GENOMICS_ENGLAND Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. 19416762 2009
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: 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 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 		0.700 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 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 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173 2016
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 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. 26785492 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11 		0.700 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 		0.700 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 		0.700 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 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 		0.700 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 Lethal presentation of neurofibromatosis and Noonan syndrome. 21567923 2011
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 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 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 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 		0.700 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 Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. 18253957 2008