Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0302314
Disease: Xanthoma
Xanthoma
0.330 GeneticVariation disease BEFREE We present a 9-year-old and a 7-year-old Chinese boy with hypercholesterolemia and xanthomas of sitosterolemia due to ABCG5 gene mutations. 30985648 2019
CUI: C0302314
Disease: Xanthoma
Xanthoma
0.330 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: C0302314
Disease: Xanthoma
Xanthoma
0.330 AlteredExpression disease BEFREE We sequenced ABCG5 and ABCG8 and measured the levels of plasma plant sterols in a 15-year-old Chinese girl with clinical sitosterolaemia (xanthomas with elevated low-density lipoprotein cholesterol (LDL-C) and plant sterols) and her apparently healthy family members. 25056759 2014
CUI: C0302314
Disease: Xanthoma
Xanthoma
0.330 Biomarker disease CTD_human Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. 11138003 2001