Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.030 GeneticVariation disease BEFREE MPN driver mutations (JAK2, CALR, MPL) are somatically acquired also in familial cases, so a genetic predisposition to acquire one of the MPN driver mutations would be inherited, even though the causative germline mutations underlying familial MPN remain largely unknown. 28444727 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.030 Biomarker disease BEFREE Sequence analysis of TET2, CBL and MPL was conducted in the 88 patients with familial myeloproliferative neoplasms. 21173100 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
0.030 AlteredExpression disease BEFREE Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. 15741216 2005