×
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
Tangier Disease
1.000
Biomarker
MGD
ATP-binding cassette transporter A1 (ABCA1) affects total body sterol metabolism.
11266384 2001
×
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
Tangier Disease
1.000
Biomarker
MGD
ABCA1 defects cause Tangier disease , a disorder characterized by absence of high density lipoprotein and thrombocytopenia.15163665 2004
×
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
Tangier Disease
1.000
Biomarker
MGD
Patients with Tangier disease exhibit extremely low plasma HDL concentrations resulting from mutations in the ATP-binding cassette, sub-family A, member 1 (ABCA1 ) protein.
15841208 2005
×
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
Tangier Disease
1.000
Biomarker
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
×
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
Tangier Disease
1.000
Biomarker
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
×
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
Tangier Disease
1.000
Biomarker
MGD
ABC1 promotes engulfment of apoptotic cells and transbilayer redistribution of phosphatidylserine.
10878804 2000
×
Entrez Id: 19
Gene Symbol: ABCA1
ABCA1
Tangier Disease
1.000
Biomarker
MGD
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
×
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
Harlequin Fetus
0.900
Biomarker
MGD
Mutations in the gene encoding a member of the ABCA transporter family, ABCA12 , have been linked to harlequin ichthyosis , but the molecular function of the protein is unknown.
18957418 2008
×
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
Harlequin Fetus
0.900
Biomarker
MGD
Abca12 (-/-) mice closely reproduce the human HI phenotype, showing marked hyperkeratosis with eclabium and skin fissure.18632686 2008
×
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
Harlequin Fetus
0.900
Biomarker
MGD
A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis.
18802465 2008
×
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
Harlequin Fetus
0.900
Biomarker
MGD
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis .
27551807 2016
×
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
Harlequin type ichthyosis
0.900
Biomarker
MGD
ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters.
18957418 2008
×
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
Harlequin type ichthyosis
0.900
Biomarker
MGD
Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.
27551807 2016
×
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
Harlequin type ichthyosis
0.900
Biomarker
MGD
A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis.
18802465 2008
×
Entrez Id: 26154
Gene Symbol: ABCA12
ABCA12
Harlequin type ichthyosis
0.900
Biomarker
MGD
Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects.
18632686 2008
×
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
Pulmonary Alveolar Proteinosis
0.300
Biomarker
MGD
Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies.
17577581 2007
×
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
Pulmonary Alveolar Proteinosis
0.300
Biomarker
MGD
ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerol.
17142808 2007
×
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
Pulmonary Alveolar Proteinosis
0.300
Biomarker
MGD
ABCA3 as a lipid transporter in pulmonary surfactant biogenesis.
17267394 2007
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Stargardt's disease
1.000
Biomarker
MGD
Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice.
17032653 2006
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Stargardt's disease
1.000
Biomarker
MGD
Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss.
29145636 2018
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Stargardt's disease
1.000
Biomarker
MGD
Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice.
10412977 1999
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Stargardt's disease
1.000
Biomarker
MGD
Other mutant alleles of ABCA4 cause the related diseases, recessive cone-rod dystrophy, and recessive Stargardt macular degeneration .
18515570 2008
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
Biomarker
MGD
Accelerated accumulation of lipofuscin pigments in the RPE of a mouse model for ABCA4-mediated retinal dystrophies following Vitamin A supplementation.
18515570 2008
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
Biomarker
MGD
Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice.
10412977 1999
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
STARGARDT DISEASE 1 (disorder)
1.000
Biomarker
MGD
On the basis of these studies we conclude that loss in substrate-dependent ATPase activity and protein misfolding are mechanisms underlying STGD1 associated with the p.Asn965Ser mutation in ABCA4 .
29145636 2018