Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.310 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: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.310 GeneticVariation BEFREE The results provide further support to the notion that PTPN11 mutations are responsible for the development of Noonan syndrome in a substantial fraction of patients and that relatively infrequent features of Noonan syndrome, such as sensory deafness and bleeding diathesis, can also result from mutations of PTPN11. 12161469

2002