ABCA1, ATP binding cassette subfamily A member 1, 19

N. diseases: 291; N. variants: 116
Disease: Tangier Disease ×
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 CausalMutation disease CLINVAR
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease CLINVAR
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 Biomarker disease CTD_human Mutations in ABC1 were detected in both TD and FHA, indicating that TD and FHA are allelic. 10431236 1999
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Our findings indicate that defects in ABC1, encoding a member of the ABC transporter superfamily, are the cause of TD. 10431238 1999
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. 10431237 1999
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 Biomarker disease BEFREE Thus, ABC1 has the properties of a key protein in the cellular lipid removal pathway, as emphasized by the consequences of its defect in patients with Tangier disease. 10525055 1999
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GermlineCausalMutation disease ORPHANET Sequence analysis of the ABC1 gene revealed that the proband for Tangier disease was homozygous for a deletion of nucleotides 3283 and 3284 (TC) in exon 22. 10535983 1999
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE We have shown that Tangier disease, a rare and severe form of HDL deficiency characterised by a biochemical defect in cellular cholesterol efflux, is caused by mutations in the ATP-binding-cassette (ABC1) gene. 10533863 1999
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Sequence analysis of the ABC1 gene revealed that the proband for Tangier disease was homozygous for a deletion of nucleotides 3283 and 3284 (TC) in exon 22. 10535983 1999
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease UNIPROT The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. 10431237 1999
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease UNIPROT Mutations in ABC1 were detected in both TD and FHA, indicating that TD and FHA are allelic. 10431236 1999
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Mutations in ABC1 were detected in both TD and FHA, indicating that TD and FHA are allelic. 10431236 1999
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 Mutations in ABCA1 lead to familial high density lipoprotein deficiency and Tangier disease. 10884428 2000
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 AlteredExpression disease BEFREE We demonstrate here that mice with a targeted inactivation of Abc1 display morphologic abnormalities and perturbations in their lipoprotein metabolism concordant with TD. 10655069 2000
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 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: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. 10706591 2000
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE Mutations in the ATP binding cassette transporter ABCA1 cause Tangier disease and other familial HDL deficiencies. 11111099 2000
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 Biomarker disease MGD Taken together, these findings demonstrate that Abc1-/- mice display pathophysiologic hallmarks similar to human Tangier disease and highlight the capacity of ABC1 transporters to participate in the regulation of dietary cholesterol absorption. 10760292 2000
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease UNIPROT Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds. 10706591 2000
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease UNIPROT 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 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: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 GeneticVariation disease BEFREE However, several groups recently reported that mutations at the ATP-binding cassette transporter 1 gene (ABC1) are responsible for a rare disorder known as Tangier disease, which is characterized in the homozygous state by the virtual absence of circulating plasma HDL. 10812922 2000
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		1.000 Biomarker disease MGD Similar to TD in humans, HDL-C is virtually absent in ABCA1-/- mice accompanied by a reduction in serum cholesterol and lipid deposition in various tissues. 10980140 2000