ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Disease: Hypoalphalipoproteinemia, Familial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 CausalMutation disease CLINVAR Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency. 16343503 2006
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease UNIPROT Mutations in ABC1 were detected in both TD and FHA, indicating that TD and FHA are allelic. 10431236 1999
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease BEFREE Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. 22959828 2012
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease BEFREE Mutations in ATP-binding cassette transporter A1 (ABCA1) cause Tangier disease and familial hypoalphalipoproteinemia, resulting in low to absent plasma high-density lipoprotein cholesterol levels. 16873719 2006
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 CausalMutation disease CLINVAR Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene. 16429166 2005
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 CausalMutation disease CLINVAR Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. 11238261 2001
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease BEFREE Our findings indicate that mutations in the ABCA1 gene are associated with TD as well as FHA. 11476965 2001
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease BEFREE Mutations in ABCA1 lead to familial high density lipoprotein deficiency and Tangier disease. 10884428 2000
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 CausalMutation disease CLINVAR Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family. 22923419 2012
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 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: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 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: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease BEFREE An ABCA1 truncation shows no dominant negative effect in a familial hypoalphalipoproteinemia pedigree with three ABCA1 mutations. 21575609 2011
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease BEFREE Recent studies have implicated mutations in the ATP-binding cassette transporter A1, ABCA1, as a cause of Tangier disease (TD) and familial hypoalphalipoproteinemia (FHA). 14576201 2003
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease BEFREE With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshift mutation (4570insA, A1484S-->X1492), a missense mutation (A986D) in a TD family, and a missense mutation (R170C) in aboriginal subjects with FHA. 10938021 2000
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease BEFREE We investigated the effect of dalcetrapib treatment on phytosterol levels in patients with familial combined hyperlipidemia (FCH) or familial hypoalphalipoproteinemia (FHA) due to mutations in apolipoprotein A1 (ApoA1) or ATP-binding cassette transporter A1 (ABCA1). 25281277 2014
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease UNIPROT We have now identified 13 ABCA1 mutations in 11 families (five TD, six FHA) and have examined the phenotypes of 77 individuals heterozygous for mutations in the ABCA1 gene. 11086027 2000
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 CausalMutation disease CLINVAR Multiple rare alleles contribute to low plasma levels of HDL cholesterol. 15297675 2004
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease BEFREE This corresponds to human 9q31.1, a chromosomal segment that contains the ATP-binding cassette protein-1 (ABCA1) gene, which is mutated in Tangier Disease and familial hypoalphalipoproteinemia. 12364545 2002
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease BEFREE Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency. 15722566 2005
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 Biomarker disease CTD_human
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 Biomarker disease BEFREE The prevalence of defects in ABCA1-dependent cholesterol efflux in Dutch FHA patients is low. 12700344 2003
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease BEFREE Mutations in the ABCA1 gene cause defective cellular lipid efflux and severe familial HDL deficiency. 16343503 2006
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 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: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 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: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 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