Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE These results suggest that the pathogenesis of NS and leukemia is associated with enhanced phosphatase activity of mutant SHP-2. 15834506 2005
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease LHGDN These results suggest that the pathogenesis of NS and leukemia is associated with enhanced phosphatase activity of mutant SHP-2. 15834506 2005
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE Leukemia-associated PTPN11 mutations were missense and were predicted to result in SHP-2 gain-of-function. 14982869 2004
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE She provides an overview of leukemias that are common in pediatric malignancies but rarely observed in adults, including the TEL-AML1 (ETV6-RUNX1) fusion associated with pediatric B-cell ALL, the OTT-MAL fusion associated with infant megakaryoblastic leukemia, PTPN11 mutations in juvenile myelomonocytic leukemia, and MLL fusion genes in leukemogenesis, among others. 15561678 2004
CUI: C0023418
Disease: leukemia
leukemia
0.400 Biomarker disease CTD_human Our results clarify the relationship between Noonan syndrome and leukemia and show that a single Ptpn11 gain-of-function mutation evokes all major features of Noonan syndrome by acting on multiple developmental lineages in a gene dosage-dependent and pathway-selective manner. 15273746 2004
CUI: C0023418
Disease: leukemia
leukemia
0.400 GeneticVariation disease BEFREE Shp2 mutations might also contribute to the pathogenesis of some leukemias. 12826400 2003