Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Audiological findings in Noonan syndrome. 27619028

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Audiological findings in Noonan syndrome. 27619028

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients. 27521173

2016
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Chronic pain in Noonan Syndrome: A previously unreported but common symptom. 26297936

2015
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Noonan syndrome and clinically related disorders. 21396583

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. 21500339

2011
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 19467855

2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. 19467855

2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR Noonan syndrome. 17222357

2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations. 17056636

2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Noonan syndrome. 17222357

2007
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation CLINVAR LEOPARD syndrome: clinical diagnosis in the first year of life. 16523510

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR LEOPARD syndrome: clinical diagnosis in the first year of life. 16523510

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation CLINVAR Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. 12960218

2003