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: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation CLINVAR Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1. 16638574

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218

2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation CLINVAR Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193

2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.100 CausalMutation CLINVAR PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399

2004