APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
Disease: Familial HDL deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency 		0.050 GeneticVariation disease BEFREE A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla). 26687706 2016
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency 		0.050 GeneticVariation disease BEFREE Marked high density lipoprotein deficiency due to apolipoprotein A-I Tomioka (codon 138 deletion). 19473658 2009
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency 		0.050 GeneticVariation disease BEFREE We describe a novel genetic variant of the apolipoprotein A-I (apoA-I) gene resulting in FHD. 14709355 2004
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency 		0.050 Biomarker disease BEFREE We conclude that PLC and PLD activities are required for apoA-I-mediated cellular cholesterol efflux, and modulating cellular PA concentration can correct, at least partially, the cholesterol efflux defect in FHD and TD. 11181755 2001
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency 		0.050 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