ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease UNIPROT Screening for functional sequence variations and mutations in ABCA1. 15262183 2004
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease UNIPROT Mutations in ABCA1 cause Tangier disease characterized by defective cholesterol homeostasis and high density lipoprotein (HDL) deficiency. 24097981 2013
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 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: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Tangier disease is caused by mutations in the 'ATP-Binding Cassette transporter A1' (ABCA1) gene, which encodes the membrane transporter ABCA1. 22913675 2012
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE A novel nonsense mutation in the ABC1 gene causes a severe syringomyelia-like phenotype of Tangier disease. 12615648 2003
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease UNIPROT Extremely low concentrations of high density lipoprotein (HDL)-cholesterol and apolipoprotein (apo) AI are features of Tangier disease caused by autosomal recessive mutations in ATP-binding cassette transporter A1 (ABCA1). 15158913 2004
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 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: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 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: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 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: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Molecular defects in the ATP binding cassette transporter 1 (ABCA1) have recently been identified as the cause of TD. 11445077 2001
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Homology modeling and functional testing of an ABCA1 mutation causing Tangier disease. 21763656 2011
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Identification of mutations in the ATP binding cassette transporter (ABCA1) gene in patients with Tangier disease, who exhibit reduced HDL cholesterol (HDL-C) and apolipoprotein A1 (apoA1) levels and premature coronary atherosclerosis, has led to the hypothesis that common polymorphisms in the ABCA1 gene could determine HDL-C and apoA1 levels and the risk of coronary atherosclerosis in the general population. 11349008 2001
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Loss-of-function mutations of the ATP-binding cassette transporter A1 (ABCA1) gene cause Tangier disease, a rare genetic disorder with accumulation of lipid-laden macrophages and increased risk of atherosclerosis. 15528481 2005
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Mutations in ABCA1 lead to familial high density lipoprotein deficiency and Tangier disease. 10884428 2000
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease UNIPROT Multiple rare alleles contribute to low plasma levels of HDL cholesterol. 15297675 2004
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE ABCA1 gene severe mutations underlie Tangier disease, a rare Mendelian disorder that can lead to premature coronary artery disease (CAD), with age of CAD onset being two decades earlier in mutant homozygotes and one decade earlier in heterozygotes than in mutation non-carriers. 17412755 2007
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Mutations of the ABCA1 gene cause FHD and TD. 11181755 2001
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE ABCA1 became a primary subject of research in many academic and pharmaceutical laboratories immediately after the discovery that mutations at the gene locus cause severe familial High Density Lipoprotein (HDL) deficiency and, in the homozygous form - Tangier disease. 20188211 2010
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 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: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency. 22959828 2012
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Since ABCA1 mutations were discovered to cause Tangier disease, a rare recessive HDL deficiency, it has been speculated that sequence variants in ABCA1 might also contribute to variations in plasma HDL cholesterol levels in the general population. 15520856 2004
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Tangier disease (TD) is a rare, autosomal recessive inherited disorder caused by a mutation in the adenosine triphosphate-binding cassette transporter 1 (ABCA1) gene, which results in a decrease in plasma high-density lipoprotein (HDL) levels. 26479764 2015
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Loss-of-function mutations in the ABCA1 gene lead to a rare disease known as Tangier disease that causes severe deficiency in plasma HDL level. 28205180 2017
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Recently, our laboratory and others demonstrated that mutations in the ATP-binding cassette transporter 1 (ABCA1) gene are responsible for Tangier disease, a rare genetic disorder characterized by severely diminished plasma HDL-C concentrations and a predisposition for CHD. 11257261 2001
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. 11257260 2001