Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.020 GeneticVariation disease BEFREE In three cases (25%), MPL(W515L) was found and in two of these a combination with trisomy 21 or the Philadelphia chromosome occurred. 19194467 2009
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.020 GeneticVariation disease BEFREE Finally, we report a novel constitutively active MPL mutant, MPLT487A, observed in a non-Down syndrome childhood AMKL that induces a myeloproliferative disease in mouse bone marrow transplantation assay. 18755984 2008