Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861185
Disease: THROMBOCYTOPENIA 2 (disorder)
THROMBOCYTOPENIA 2 (disorder)
0.010 GeneticVariation disease BEFREE MASTL, a Ser/Thr kinase that inhibits PP2A-B55 complexes during mitosis, is mutated in autosomal dominant thrombocytopenia. 30252678 2018