PLTP, phospholipid transfer protein, 5360

N. diseases: 62; N. variants: 9
Disease: Cholesteryl Ester Transfer Protein Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.020 AlteredExpression disease BEFREE Human CETP deficiency is associated with dramatic elevations of HDL cholesterol and apolipoprotein A-I levels, while PLTP variants with increased expression are associated with higher HDL levels. 19023137 2009
CUI: C0342883
Disease: Cholesteryl Ester Transfer Protein Deficiency
Cholesteryl Ester Transfer Protein Deficiency 		0.020 Biomarker disease BEFREE The human PLTP gene was screened for sequence anomalies by DNA melting in 107 subjects with HyperA. 19013296 2008