Disease: Macrothrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.030 GeneticVariation disease BEFREE Only 21 causative variants in ABCG5/ABCG8 are associated with macrothrombocytopenia. 29984642 2019
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.030 GeneticVariation disease BEFREE Two novel variants of the ABCG5 gene cause xanthelasmas and macrothrombocytopenia: a brief review of hematologic abnormalities of sitosterolemia. 28696550 2017
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		0.030 AlteredExpression disease BEFREE Plant sterol levels and ABCG5/ABCG8 genes should be analysed in patients with unexplained hemolytic anemia and macrothrombocytopenia. 24623560 2014