Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation group CLINVAR Audiological findings in Noonan syndrome. 27619028 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR Audiological findings in Noonan syndrome. 27619028 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation group CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173 2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation group CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation group CLINVAR Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. 26249544 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936 2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation group CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR Noonan syndrome and clinically related disorders. 21396583 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation group CLINVAR Noonan syndrome and clinically related disorders. 21396583 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation group CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome. 21533187 2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation group CLINVAR The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 19467855 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 19467855 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation group CLINVAR Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. 19206169 2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR Noonan syndrome. 17222357 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation group CLINVAR Noonan syndrome. 17222357 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation group CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636 2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 CausalMutation group CLINVAR LEOPARD syndrome: clinical diagnosis in the first year of life. 16523510 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR LEOPARD syndrome: clinical diagnosis in the first year of life. 16523510 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.100 GeneticVariation group CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218 2003