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 BEFREE ATP-binding cassette transporter A1 (ABCA1) gene mutations in a patient with Tangier disease, who presented an uncommon clinical history, and in his family were found and characterized. 30503498 2019
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Homozygous variations in ATP-binding cassette transporter A1 typically cause Tangier disease, a rare autosomal recessive condition linked with several other abnormalities (eg, enlarged discolored tonsils). 29773422 2019
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE While high low-density lipoprotein cholesterol (LDL-C) and low high-density lipoprotein cholesterol (HDL-C) levels are positively associated with cardiovascular events, it is still unclear whether familial hypercholesterolemia (FH) and Tangier's disease (TD), caused by mutations in LDLR and ABCA1, respectively, influence ischemic stroke (IS) in humans. 31487778 2019
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE We identified the first Lebanese pathogenic variant in ABCA1 gene causing Tangier disease in a consanguineous family. 30361172 2019
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Using the example of the ATP-binding cassette transporter A1 (<i>ABCA1</i>) gene (Tangier disease), we describe our algorithm for functionally significant sequence finding. 31234415 2019
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 Biomarker disease BEFREE In this study, we found that when ABCA1 is defective (Tangier disease) there is secondary inhibition of the NPC disease pathway, linking these two diseases at the level of cellular pathophysiology. 31707734 2019
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Fibroblasts from patients with Tangier disease carrying ATP-binding cassette A1 (ABCA1) loss-of-function mutations are characterized by cardiolipin accumulation, a mitochondrial-specific phospholipid. 31329164 2019
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 Biomarker disease BEFREE Compared with control samples, plasma from patients with Tangier disease (deficient in ABCA1) had significantly lower HxCer (-69%) and SM (-40%) levels. 30279221 2018
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 Biomarker disease GENOMICS_ENGLAND Peripheral neuropathy in Tangier disease: A literature review and assessment. 29582519 2018
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 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: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 Biomarker disease BEFREE To define the functional effects of human hepatocyte ABCA1 deficiency, we generated induced pluripotent stem cell (iPSC)-derived hepatocyte-like cells (HLCs) from Tangier disease (TD) and matched control subjects. 28330813 2017
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Mutations of human ABCA1 are associated with Tangier disease and familial HDL deficiency. 28602350 2017
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation. 26616730 2016
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 Biomarker disease BEFREE The ATP-binding cassette transporter ABCA1 is required for the conversion of apolipoprotein A-1 to high-density lipoprotein (HDL), and its defect causes Tangier disease, a rare disorder characterized by an absence of HDL and accumulation of cholesterol in peripheral tissues. 26749169 2016
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 WES combined with integrated variant annotation prediction successfully identified asymptomatic Tangier disease with novel ABCA1 mutations. 25875382 2015
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Tangier disease (TD) is a rare autosomal recessive disorder, resulting from mutations in the ATP binding cassette transporter (ABCA1) gene. 25227739 2014
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Mutations in the ABCA1 gene cause Tangier disease which is characterized by near or complete absence of circulating plasma HDL. 24807696 2014
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Homozygous ABCA1 gene mutation causes Tangier disease (TD). 24680682 2014
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 Tangier disease (TD) is a rare genetic disorder caused by mutations in the ATP-binding cassette transporter A1 (ABCA1) gene, which results in impaired cellular cholesterol efflux and high-density lipoprotein cholesterol deficiency. 23388172 2013
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE We describe a patient with a unique phenotype of Tangier disease from a novel splice site mutation in the ABCA1 gene that is associated with a central nervous system presentation resembling multiple sclerosis, and the presence of premature atherosclerosis. 23351586 2013
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Depletion of sphingomyelin in stably transfected HEK293 cells expressing the Tangier disease W590S mutant ABCA1 isoform rescued the defect in PS exposure and restored cholesterol efflux to apoAI. 24220029 2013
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