Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 351
Gene Symbol: APP
APP
0.700 GeneticVariation disease BEFREE The most common familial early onset dementia mutations are found in the genes involved in Alzheimer's disease; the amyloid precursor protein (APP) and the presenilin 1 and 2 (PSEN1 and 2) genes; the prion protein gene (PRNP) may be involved. 15258222 2004
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
0.700 AlteredExpression disease BEFREE The selective expression of TREM2 on immune cells and its association with different forms of dementia indicate a contribution of this receptor in common pathways of neurodegeneration. 26694609 2016
Entrez Id: 351
Gene Symbol: APP
APP
0.700 GeneticVariation disease BEFREE Here, we describe a novel missense mutation in the amyloid precursor protein (APP) causing a lysine-to-asparagine substitution at position 687 (APP770; herein, referred to as K16N according to amyloid-β (Aβ) numbering) resulting in an early onset dementia with an autosomal dominant inheritance pattern. 22514144 2012
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
0.700 GeneticVariation disease BEFREE Homozygous loss-of-function mutations in TREM2, encoding the triggering receptor expressed on myeloid cells 2 protein, have previously been associated with an autosomal recessive form of early-onset dementia. 23150934 2013
Entrez Id: 351
Gene Symbol: APP
APP
0.700 GeneticVariation disease BEFREE Even though the idea that amyloid beta peptide accumulation is the primary event in the pathogenesis of Alzheimer's disease has become the leading hypothesis, the causal link between aberrant amyloid precursor protein and tau alterations in this type of dementia remains controversial. 16677790 2006
Entrez Id: 351
Gene Symbol: APP
APP
0.700 Biomarker disease BEFREE Also problematic is the alternative hypothesis that, instead of amyloid plaques, it is oligomers of amyloid precursor protein that cause AD.Evidence is presented suggesting amyloid/oligomers as necessary but insufficient causes of the dementia and that, for dementia to develop, requires the addition of cofactors known to be associated with AD. 28509380 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.700 GeneticVariation disease LHGDN APP is an important locus predicting the age at onset of dementia in people with Down syndrome. 15184603 2004
Entrez Id: 351
Gene Symbol: APP
APP
0.700 GeneticVariation disease BEFREE We review current knowledge on clinical diagnosis and presentation of dementia in DS in comparison with FAD due to APP mutations and APP duplication. 28870521 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.700 GeneticVariation disease BEFREE Ischemic lesions are characteristic of several hereditary CAA syndromes, including a recently described mutation of the amyloid precursor protein associated with dementia (but not hemorrhagic stroke) in an Iowa family. 11901242 2002
Entrez Id: 351
Gene Symbol: APP
APP
0.700 Biomarker disease BEFREE Alzheimer's disease (AD) is the most common cause of dementia and is likely caused by defective amyloid precursor protein (APP) trafficking and processing in neurons leading to amyloid plaques containing the amyloid-β (Aβ) APP peptide byproducts. 28360834 2017
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
0.700 GeneticVariation disease BEFREE These data suggest that a mutational burden in TREM2 may serve as a risk factor for neurodegenerative disease in general, and that potentially this class of TREM2 variant carriers with dementia should be considered as having a molecularly distinct form of neurodegenerative disease. 23582655 2013
Entrez Id: 351
Gene Symbol: APP
APP
0.700 Biomarker disease GENOMICS_ENGLAND In order to assess the frequency of mutations in the known Alzheimer's disease causative genes in Turkish dementia patients we screened amyloid precursor protein (APP), PSEN1 and PSEN2 for mutations in a cohort of 98 Turkish dementia families. 22503161 2012
Entrez Id: 351
Gene Symbol: APP
APP
0.700 Biomarker disease BEFREE Mutations in Amyloid β Precursor Protein (APP) and in genes that regulate APP processing--such as PSEN1/2 and ITM2b/BRI2--cause familial dementia, such Familial Alzheimer disease (FAD), Familial Danish (FDD) and British (FBD) dementias. 26528887 2015
Entrez Id: 351
Gene Symbol: APP
APP
0.700 Biomarker disease CTD_human Genetic studies show that a simple duplication of the Aβ precursor (APP) gene, as occurs in Down syndrome (trisomy 21), with a 1.5-fold increase in expression, can cause dementia with the complete AD associated neuropathology. 22300406 2012
Entrez Id: 351
Gene Symbol: APP
APP
0.700 Biomarker disease BEFREE Cystatin isolated from chicken egg white, called ovocystatin, has been widely used in the medical and pharmaceutical research due to its structural and biological similarities to human cystatin C. The aim of this study was to assess the effect of administering ovocystatin on the development of dementia-specific cognitive deficits in APP/PS1 transgenic mice. 30504006 2019
Entrez Id: 351
Gene Symbol: APP
APP
0.700 GeneticVariation disease BEFREE Hereditary cerebral hemorrhage with amyloidosis-Dutch type (HCHWA-D) is a rare autosomal dominant disorder caused by an amyloid-beta precursor protein (AbetaPP) 693 mutation that clinically leads to recurrent hemorrhagic strokes and dementia. 14678776 2003
Entrez Id: 351
Gene Symbol: APP
APP
0.700 GeneticVariation disease BEFREE We report a mutation at a novel site in APP in a three-generation Iowa family with autosomal dominant dementia beginning in the sixth or seventh decade of life. 11409420 2001
Entrez Id: 351
Gene Symbol: APP
APP
0.700 AlteredExpression disease BEFREE Since phosphorylation/dephosphorylation mechanisms are crucial in the regulation of Tau and beta-APP, a superfamily of mitogen-activated protein kinases (MAPKs) has recently emerged as key regulators of the formation of plagues, eventually leading to dementia and AD. 15312913 2004
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
0.700 Biomarker disease HPO
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
0.700 Biomarker disease BEFREE Triggering receptor expressed on myeloid cells 2 (TREM2) is linked to dementia and neurodegenerative disease. 30390679 2018
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
0.700 GeneticVariation disease BEFREE Low frequency coding variants in TREM2 are associated with increased Alzheimer disease (AD) risk, while loss of functions mutations in the gene lead to an autosomal recessive early-onset dementia, named Nasu-Hakola disease (NHD). 26754641 2016
Entrez Id: 351
Gene Symbol: APP
APP
0.700 Biomarker disease LHGDN Patients who progressed to DAT at the 2-year follow-up (n = 12) showed a significant decrease of baseline platelet APP forms ratio values (mean +/- SD, 0.36 +/- 0.28) compared with stable MCI subjects (mean +/- SD, 0.73 +/- 0.32) (P<.01) and patients who developed other types of dementia (mean +/- SD, 0.83 +/- 0.27) (P =.03). 14676049 2003
Entrez Id: 54209
Gene Symbol: TREM2
TREM2
0.700 GeneticVariation disease BEFREE Recently, soluble fragments of the triggering receptor expressed on myeloid cells 2 (sTREM2) protein in CSF have been reported to be increased in prodromal AD and also in individuals with TREM2 rare genetic variants that increase the likelihood of developing dementia. 31779670 2019
Entrez Id: 351
Gene Symbol: APP
APP
0.700 AlteredExpression disease BEFREE We explored how levels of endocytic proteins, APP, its metabolites, secretase enzymes, and tau varied with age in cortical brain samples from men of three age ranges (young [20-30], middle aged [45-55], and old [70-90]) with no symptoms of dementia. 28655199 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.700 Biomarker disease BEFREE Although the precise mechanism remains to be elucidated, our data suggest a possible role for APP in modifying the PD phenotype as well as a general contribution of genetic factors to the development of dementia in individuals with PD. 25604855 2015