APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
Disease: High density lipoprotein deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3165209
Disease: High density lipoprotein deficiency
High density lipoprotein deficiency 		0.020 GeneticVariation disease BEFREE Marked high density lipoprotein deficiency due to apolipoprotein A-I Tomioka (codon 138 deletion). 19473658 2009
CUI: C3165209
Disease: High density lipoprotein deficiency
High density lipoprotein deficiency 		0.020 GeneticVariation disease BEFREE A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities. 1898657 1991