Disease: Congenital thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia 		0.020 GeneticVariation disease BEFREE Similarly, MYH9 mutations result in congenital thrombocytopaenia and increase the risk of developing kidney failure, cataracts and hearing loss at a later stage, while MPL mutations cause a congenital thrombocytopaenia that almost always evolves into deadly bone marrow failure. 28594466 2017
CUI: C0272278
Disease: Congenital thrombocytopenia
Congenital thrombocytopenia 		0.020 GeneticVariation disease BEFREE Hereditary thrombocytopenia due to reduced platelet production--report on two families and mutational screening of the thrombopoietin receptor gene (c-mpl). 10896251 2000