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 GeneticVariation disease BEFREE Mutations of human ABCA1 are associated with Tangier disease and familial HDL deficiency. 28602350 2017
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 Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants. 24097981 2013
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 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 GermlineCausalMutation disease ORPHANET 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 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 Mutations at the ABCA1 gene locus cause severe familial HDL deficiency and, in the homozygous form, cause Tangier disease. 18706283 2008
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 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 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 Using denaturing HPLC (dHPLC) and direct promoter sequencing we screened the ABCA1 gene of a family with Tangier disease and variable expression of FHA. 16225879 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 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 BEFREE ABCA1 gene was initially implicated in Tangier disease and familial hypoalphalipoproteinemia and has been shown to be associated with coronary artery disease and atherosclerosis as well. 16009332 2005
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease UNIPROT 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 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 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 Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders. 15019541 2004
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GermlineCausalMutation disease ORPHANET Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency. 15158913 2004
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 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 Approximately 50 mutations and many single nucleotide polymorphisms have been described in the ABCA1 gene, with mutations leading to Tangier disease and familial hypoalphalipoproteinemia. 12763760 2003
CUI: C1704429
Disease: Hypoalphalipoproteinemia, Familial
Hypoalphalipoproteinemia, Familial 		0.800 GeneticVariation disease BEFREE Mutations in the ABCA1 gene are linked to rare phenotypes, familial hypoalphalipoproteinemia (FHA) and Tangier disease (TD), characterized by markedly decreased plasma high-density lipoprotein cholesterol (HDL-C) levels. 12535741 2003
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