Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Mutations of human ABCA1 are associated with Tangier disease and familial HDL deficiency. 28602350 2017
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Loss-of-function mutations of the the ATP-binding cassette-1 (<i>ABCA1</i>) gene are the cause of Tangier disease (TD) in homozygous subjects and familial HDL deficiency (FHD) in heterozygous subjects. 28634189 2017
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. 22959828 2012
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Mutations at the ABCA1 gene locus cause severe familial HDL deficiency and, in the homozygous form, cause Tangier disease. 18706283 2008
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Mutations in the ABCA1 gene cause defective cellular lipid efflux and severe familial HDL deficiency. 16343503 2006
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency. 15722566 2005
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. 15019541 2004
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Mutations in ABCA1 cause severe HDL deficiency syndromes called Tangier disease and familial high-density lipoprotein deficiency, which are characterized by a severe deficiency or absence of high-density lipoprotein in the plasma. 15209530 2004
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 Biomarker disease BEFREE Deficiency of ABCA1 causes high density lipoprotein deficiency and macrophage foam cell formation in Tangier disease. 11855831 2002
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE To determine whether naturally occurring mutants of ABCA1 may affect its phosphorylation activity, fibroblasts from subjects with familial HDL deficiency (FHD, heterozygous ABCA1 defect) and Tangier disease (TD, homozygous/compound heterozygous ABCA1 defect) were treated with 8-Br-cAMP or forskolin. 12454270 2002
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE In order to know the molecular basis for FHD, we characterized three different ABCA1 mutations associated with FHD (G1158A/A255T, C5946T/R1851X, and A5226G/N1611D) with respect to their expression in the passaged fibroblasts from the patients and in the cells transfected with the mutated cDNAs. 11785958 2002
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Direct sequencing of all coding regions and splice site junctions of other HDL candidate genes revealed no additional mutations, indicating that combined defective ABCA1 alleles may result in familial HDL deficiency. 12009425 2002
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE The application of the test to the molecular analysis of a new patient with familial HDL-deficiency (Tangier disease) led to a discovery of two novel ABCA1 mutations: C2665del and C4457T. 11476961 2001
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 Biomarker disease CTD_human Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. 11476965 2001
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE The identification of mutations in ABCA1 in patients with Tangier disease and familial HDL deficiency demonstrated that inadequate transport of phospholipid and cholesterol to the extracellular space results in the hypercatabolism of lipid-poor nascent HDL particles. 11714841 2001
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease. 11476965 2001
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Mutations of the ABCA1 gene cause FHD and TD. 11181755 2001
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Mutations in ABCA1 lead to familial high density lipoprotein deficiency and Tangier disease. 10884428 2000
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 Biomarker disease BEFREE Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency. 10787172 2000
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE We conclude that a cellular cholesterol defect is a relatively frequent cause of familial HDL deficiency and that a mutation at the ABCA1 gene can be identified in half of these patients. 10998475 2000
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 GeneticVariation disease BEFREE Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. 10431236 1999
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 Biomarker disease BEFREE These data show that mutations in ABC1 are the major cause of familial HDL deficiency associated with defective cholesterol efflux, and that CERP has an essential role in the formation of HDL. 10533863 1999
CUI: C2931838
Disease: Familial HDL deficiency
Familial HDL deficiency
0.400 Biomarker disease CTD_human Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. 10431236 1999