Disease: Blood Coagulation Disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.310 Biomarker group GENOMICS_ENGLAND A mutation in PTPN11 may drive leukemic transformation in a case of essential thrombocythemia. 28587547 2018
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.310 GeneticVariation group 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