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: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker GENOMICS_ENGLAND Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype. 28650561

2017
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker GENOMICS_ENGLAND Clinical and molecular characterization of 40 patients with Noonan syndrome. 18678287

2009
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker GENOMICS_ENGLAND Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. 14644997

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker GENOMICS_ENGLAND Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome. 15389709

2004
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker GENOMICS_ENGLAND PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. 11992261

2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker GENOMICS_ENGLAND Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. 12058348

2002
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C4551484
Disease: Leopard Syndrome 1
Leopard Syndrome 1 		0.700 Biomarker GENOMICS_ENGLAND Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. 11704759

2001