Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia
0.110 GeneticVariation disease BEFREE A novel mutation of ABCG5 gene in a Turkish boy with phytosterolemia presenting with macrotrombocytopenia and stomatocytosis. 24623560 2014
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia
0.110 Biomarker disease HPO