Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 Biomarker disease BEFREE AG10 is a novel, potent, and selective oral transthyretin (TTR) stabilizer being developed to treat TTR amyloidosis (ATTR). 31172685 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 Biomarker disease BEFREE Assessment of myocardial uptake of Tc-99m-pyrophosphate (Tc-99m PYP) is pivotal in distinguishing transthyretin-associated cardiac amyloidosis (ATTR) from light chain amyloid (AL). 31172386 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 Biomarker disease BEFREE Analysis of autonomic outcomes in APOLLO, a phase III trial of the RNAi therapeutic patisiran in patients with hereditary transthyretin-mediated amyloidosis. 31728713 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE The APOE genotype was determined in ATTR amyloidosis patients treated with Patisiran. 31648569 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 Biomarker disease BEFREE The final diagnosis was cardiac light-chain (AL) amyloidosis in 222, cardiac transthyretin (ATTR) amyloidosis in 214, and no cardiac involvement in 427 cases. 31202744 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 Biomarker disease BEFREE Revusiran, in development for the treatment of hereditary transthyretin-mediated amyloidosis, was discontinued after an imbalance in deaths in the "ENDEAVOUR" phase 3 clinical trial. 31821125 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 Biomarker disease BEFREE Patients with hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) present with mutations in the transthyretin (TTR) gene that lead to the formation of amyloid deposits in peripheral nerves and heart. 31701435 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 Biomarker disease BEFREE ATTR amyloidosis is less recognized but is increasingly seen due to better recognition and improved diagnostic tools. 31706583 2020
Entrez Id: 7276
Gene Symbol: TTR
TTR
0.500 GeneticVariation disease BEFREE We, therefore, sequenced the TTR gene and used HRM in a group of 134 patients suspected of suffering from amyloidosis. 31740141 2020
Entrez Id: 348
Gene Symbol: APOE
APOE
0.400 Biomarker disease BEFREE One model was run for each AD risk factor, including: objectively-defined subtle cognitive decline (Obj-SCD), and genetic susceptibility [apolipoprotein E ε4 (APOE ε4) as well as cerebrospinal fluid β-amyloid (), total tau (tau), and hyperphosphorylated tau (p-tau). 31305320 2020
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
0.400 Biomarker disease BEFREE Recent advances in research throw more lights of its beneficial role towards Alzheimer's disease (AD), including promoting β-amyloid (Aβ) clearance, as well as inhibiting production in the triple-transgenic mouse model of Alzheimer's disease (3×Tg AD). 31810131 2020
Entrez Id: 43
Gene Symbol: ACHE
ACHE
0.400 AlteredExpression disease BEFREE It also attenuated the increase in AChE activity and decreased and iron deposition. 31644927 2020
Entrez Id: 348
Gene Symbol: APOE
APOE
0.400 Biomarker disease BEFREE Here, the role of APOE was investigated with regard to the efficacy of Patisiran, the first LNP-siRNA recently approved for clinical use in patients having transthyretin amyloidosis (ATTR amyloidosis). 31648569 2020
Entrez Id: 2934
Gene Symbol: GSN
GSN
0.400 Biomarker disease BEFREE To provide a comprehensive review of the types of amyloidosis that can be associated with ocular involvement, the images and clinical descriptions of patients with amyloidosis structurally related to gelsolin, keratoepithelin and lactoferrin were obtained in collaborations with the ophthalmology departments of hospitals in Mainz (Germany) and Helsinki (Finland).<b>Results</b>: Overall, ocular morbidity was detected in 41 of the 178 patients with amyloidosis (23%). 31829761 2020
Entrez Id: 43
Gene Symbol: ACHE
ACHE
0.400 Biomarker disease BEFREE Specifically, compound 4g exhibited the potent ability to inhibit cholinesterase (ChE) (IC<sub>50</sub>, 19.7 nM for hAChE and 0.66 μM for hBuChE) and the good aggregation inhibition (49.2% at 20 μM), and it was also a good antioxidant (1.26 trolox equivalents). 31791679 2020
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.100 Biomarker disease BEFREE We assessed whether these polymorphisms are associated with cerebrospinal fluid AD biomarkers including total tau (t-tau), phosphorylated tau proteins (p-tau181, p-tau199, and p-tau231), amyloid-β42 (Aβ42), and visinin-like protein 1 (VILIP-1) to test possible relationships of specific genotypes and pathological levels of CSF AD biomarkers. 31771069 2020
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE Amyloid-PET should be prioritized over CSF biomarkers in the diagnostic workup of patients investigated for suspected AD, as it provides greater changes in diagnosis and diagnostic confidence. 31388720 2020
Entrez Id: 567
Gene Symbol: B2M
B2M
0.100 GeneticVariation disease BEFREE A prototypic example is human beta-2 microglobulin (β2m), which, when accumulated in patients, gives rise to dialysis-related amyloidosis. 31420997 2020
Entrez Id: 6622
Gene Symbol: SNCA
SNCA
0.100 Biomarker disease BEFREE Pathogenic protein aggregates such as β-amyloid and α-synuclein trigger microglial NLRP3 activation, leading to caspase-1 activation and IL-1β secretion. 31596526 2020
Entrez Id: 1437
Gene Symbol: CSF2
CSF2
0.100 Biomarker disease BEFREE We assessed whether these polymorphisms are associated with cerebrospinal fluid AD biomarkers including total tau (t-tau), phosphorylated tau proteins (p-tau181, p-tau199, and p-tau231), amyloid-β42 (Aβ42), and visinin-like protein 1 (VILIP-1) to test possible relationships of specific genotypes and pathological levels of CSF AD biomarkers. 31771069 2020
Entrez Id: 4137
Gene Symbol: MAPT
MAPT
0.100 Biomarker disease BEFREE As a result, and Tau generate continually, which aggravates both autophagy dysfunction and AD. 31503421 2020
Entrez Id: 3918
Gene Symbol: LAMC2
LAMC2
0.100 Biomarker disease BEFREE Amyloid-PET should be prioritized over CSF biomarkers in the diagnostic workup of patients investigated for suspected AD, as it provides greater changes in diagnosis and diagnostic confidence. 31388720 2020
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
0.100 Biomarker disease BEFREE We sought to develop a novel Nlrp3 knock-in (KI) mouse model of CAPS to study amyloidosis, a severe CAPS complication, and test novel therapeutic approaches. 31194989 2020
Entrez Id: 567
Gene Symbol: B2M
B2M
0.100 Biomarker disease BEFREE In dialysis patients, the protein β2-microglobulin (β2m) forms amyloid fibrils in a condition known as dialysis-related amyloidosis. 31711963 2020
Entrez Id: 3375
Gene Symbol: IAPP
IAPP
0.100 Biomarker disease BEFREE We also found that diabetic rats expressing amyloid-forming human amylin in the pancreas (the HIP rat model) have increased tissue levels of hypoxia-inducible transcription factors, compared to diabetic rats that express non-amyloid forming rat amylin (the UCD rat model). 31739987 2020