Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 GeneticVariation disease BEFREE These data suggest that deletion of apoA-I is associated with increased clearance of and reduced parenchymal and vascular pathology in the Tg2576 model. 31002190 2019
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 GeneticVariation disease BEFREE A new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options. 30665372 2019
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE In ApoA-I related amyloidosis involving the heart, amyloid deposits are mainly constituted by the 93-residue N-terminal region of the protein, here indicated as [1-93]ApoA-I. 29623474 2018
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 GeneticVariation disease BEFREE Molecular Insights into Human Hereditary Apolipoprotein A-I Amyloidosis Caused by the Glu34Lys Mutation. 30184436 2018
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE Apolipoprotein A-I (ApoA-I)-related amyloidosis is a rare disease caused by missense mutations in the APOA1 gene. 30291643 2018
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE Laser microdissection-liquid chromatography tandem mass spectrometry-based proteomic analysis elucidated the type of amyloidosis as apolipoprotein A-I amyloidosis. 29968409 2018
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE The decreased affinity of ApoA-I amyloidogenic variants for lipids, together with the increased efficiency in the cholesterol efflux process, could explain why, despite the unfavourable lipid profile, patients affected by ApoA-I related amyloidosis do not show a higher CVD risk. 28887204 2017
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE Both of them were able to avoid the aggregation of Aβ in vitro, even though recombinant ApoA-I-M was significantly more effective in protecting endothelial cells from (1-42)-toxicity. 28941727 2017
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE We checked and compared by fluorescence techniques the binding of human apolipoprotein A-I and a natural mutant involved in amyloidosis to the hydrogel scaffolds. 28634774 2017
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE Case 1 was thus diagnosed as nonhereditary ApoA-1 associated renal amyloidosis with membranous nephropathy, and case 2 as hereditary ApoA-1 amyloidosis with multiorgan injuries (kidney and spleen) and a positive family history. 28953655 2017
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 GeneticVariation disease BEFREE In this family however, genotyping of family members identified several unaffected carriers suggesting a variable disease penetrance, which has not been described before in this form of amyloidosis and has implications when counselling those with APOA1 mutations. 27240838 2016
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 GeneticVariation disease BEFREE The single amino acid mutation G26R in human apolipoprotein A-I (apoA-IIowa) is the first mutation that was associated with familial AApoA1 amyloidosis. 27464946 2016
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 GeneticVariation disease BEFREE Specific gene mutations in Apolipoprotein A I (ApoAI) are associated with systemic amyloidoses. 26515634 2016
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE ApoA1 levels were not altered between groups, although a strong correlation was observed between plasma (1-40) and apoA1 among CAA patients (r = 0.583, p = 0.007). 26661731 2016
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 GeneticVariation disease BEFREE Mutations in human apolipoprotein A-I (apoA-I) are associated with low high-density lipoprotein (HDL) cholesterol levels and pathological conditions such as premature atherosclerosis and amyloidosis. 26363436 2015
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE Apo AI amyloidosis is characterized by slowly progressive renal disease and end-stage renal disease occurs aproximately 3 to 15 years from initial diagnosis. 26299174 2015
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 GeneticVariation disease BEFREE Tubulointerstitial nephritis is a dominant feature of hereditary apolipoprotein A-I amyloidosis. 25565309 2015
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE On the other hand, aortic stiffness was significantly greater in patients with APO A-I amyloidosis than controls (PWV 11.5 ± 2.9 and 10.7 ± 2.3 m/s, p < 0.05), even after adjusting for confounders. 26193960 2015
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE This novel mechanism suggests potential therapeutic interventions for apoA-I amyloidosis. 24702826 2014
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE This observational study examines all known cases of chronic kidney disease due to hereditary apolipoprotein A-I amyloidosis in Ireland. 23730806 2013
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 Biomarker disease BEFREE The X-ray crystal structure of the C-terminal truncated human protein, Δ(185-243)apoA-I, determined to 2.2 Å resolution by Mei and Atkinson, provides the structural basis for understanding apoA-I destabilization in amyloidosis. 22229410 2012
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 GeneticVariation disease BEFREE Second, 0.27% of individuals in the general population were heterozygous for NS variants which were associated with substantial reductions in apoA-I (up to 39 mg/dL) and/or HDL cholesterol (up to 0.9 mmol/L) and, surprisingly, 0.41% were heterozygous for variants predisposing to amyloidosis. 23209431 2012
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 GeneticVariation disease BEFREE The clinical spectrum and outcome of hereditary apolipoprotein A-I amyloidosis are reviewed in detail and support the need for sequencing of the apolipoprotein A-I gene among patients with apparent localized amyloidosis in whom IHC is nondiagnostic of the fibril protein, even in the absence of a family history of disease. 21820994 2011
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 GeneticVariation disease BEFREE Less often the precursor of amyloidosis is mutant apolipoprotein A-1 or gelsolin. 22094129 2011
Entrez Id: 335
Gene Symbol: APOA1
APOA1
0.100 GeneticVariation disease BEFREE ApoA-I variants with amino acid substitutions, especially in the region of amino acid residues 50-93 and 170-178, have been associated with amyloidosis. 20616715 2010