Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Macrothrombocytopenia-Stomatocytosis, Mediterranean
0.300 Biomarker disease CTD_human Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. 11138003 2001
Macrothrombocytopenia-Stomatocytosis, Mediterranean
0.300 Biomarker disease CTD_human Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. 11099417 2000