Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia. 28587547

2018
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620

2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND The RASopathies. 23875798

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Genetic predispositions to childhood leukemia. 23926459

2013
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287

2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND This implies that they are gain-of-function changes and that the pathogenesis of Noonan syndrome arises from excessive SHP-2 activity. 11704759

2001
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		1.000 Biomarker GENOMICS_ENGLAND