Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 CausalMutation disease 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
0.110 CausalMutation disease CLINVAR Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. 16358218 2006
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 CausalMutation disease CLINVAR Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient. 15948193 2005
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
0.110 CausalMutation disease CLINVAR PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience. 15520399 2004