Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE Mutations in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP) are major genetic causes of early-onset Alzheimer's disease (EOAD). 30797548 2020
Entrez Id: 348
Gene Symbol: APOE
APOE
0.500 GeneticVariation disease BEFREE In this study, we identified 5 (8.3%) LPVs and 18 (30%) VUSs in known dementia-related genes in apolipoprotein E ε4 noncarrying Korean patients with early-onset Alzheimer's disease. 31217084 2020
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE Novel amyloid precursor protein mutation, Val669Leu ("Seoul APP"), in a Korean patient with early-onset Alzheimer's disease. 31623876 2019
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE Pathogenic variants in the autosomal dominant genes PSEN1, PSEN2, or APP, APOE4 alleles, and rare variants within TREM2, SORL1, and ABCA7 contribute to early-onset Alzheimer's disease (EOAD). 31381512 2019
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE The "Australian" (L723P) mutation located in the C-termini of APP TM domain is associated with autosomal-dominant, early onset Alzheimer's disease. 31180641 2019
Entrez Id: 348
Gene Symbol: APOE
APOE
0.500 GeneticVariation disease BEFREE In late-onset AD, elevated circulating cholesterol levels increase AD risk even after adjusting for the apolipoprotein E ε4 (APOE E4) allele, a major genetic factor for AD and elevated cholesterol levels; however, the role of circulating cholesterol levels in EOAD is unclear. 31135820 2019
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE The identification of amyloid-β precursor protein (APP) pathogenic mutations in familial early onset Alzheimer's disease (AD), along with knowledge that amyloid-β (Aβ) was the principle protein component of senile plaques, led to the establishment of the amyloid cascade hypothesis. 30760863 2019
Entrez Id: 348
Gene Symbol: APOE
APOE
0.500 GeneticVariation disease BEFREE Pathogenic variants in the autosomal dominant genes PSEN1, PSEN2, or APP, APOE4 alleles, and rare variants within TREM2, SORL1, and ABCA7 contribute to early-onset Alzheimer's disease (EOAD). 31381512 2019
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2. 29175279 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE Collectively, these data reveal an important role for APP in the amyloidogenic aspects of AD but challenge the idea that increased APP levels are solely responsible for increasing specific phosphorylated forms of tau or enhanced neuronal cell death in Down syndrome-associated AD pathogenesis. 29861166 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE Mutations in the <i>APP, PSEN1</i>, and <i>PSEN2</i> genes cause early onset Alzheimer's disease (EOAD) that follows a Mendelian inheritance pattern. 29740579 2018
Entrez Id: 348
Gene Symbol: APOE
APOE
0.500 Biomarker disease CTD_human Hidden heterogeneity in Alzheimer's disease: Insights from genetic association studies and other analyses. 29107063 2018
Entrez Id: 348
Gene Symbol: APOE
APOE
0.500 Biomarker disease CTD_human Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. 30319691 2018
Entrez Id: 348
Gene Symbol: APOE
APOE
0.500 Biomarker disease CTD_human Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers. 30320580 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE CRISPR/Cas9 Mediated Disruption of the Swedish APP Allele as a Therapeutic Approach for Early-Onset Alzheimer's Disease. 29858078 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE Autosomal dominant early-onset Alzheimer's disease (EOAD) is genetically heterogeneous and has been associated with mutations in 3 different genes, coding for amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2). 30104866 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE Mutations in the amyloid precursor protein (<i>APP</i>) gene were the first to be recognized as the cause of AD. 30510423 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE Triplication of APP, a gene on chromosome 21, is sufficient to cause early-onset Alzheimer's disease in the absence of Down syndrome. 29945247 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE Abbreviations: Alzheimer's disease (AD); Late-onset Alzheimer's disease (LOAD); Early-onset Alzheimer's disease (EOAD); Shugoshin-1 (Sgo1); Chromosome Instability (CIN); apolipoprotein (Apoe); Central nervous system (CNS); Amyloid precursor protein (APP); N-methyl-d-aspartate (NMDA); Hazard ratio (HR); Cyclin-dependent kinase (CDK); Chronic Atrial Intestinal Dysrhythmia (CAID); beta-secretase 1 (BACE); phosphor-Histone H3 (p-H3); Research and development (R&D); Non-steroidal anti-inflammatory drugs (NSAIDs); Brain blood barrier (BBB). 30231670 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease CTD_human High performance plasma amyloid-β biomarkers for Alzheimer's disease. 29420472 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease CTD_human Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers. 30320580 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease BEFREE A minority of patients with sporadic early-onset Alzheimer's disease (AD) exhibit de novo germ line mutations in the autosomal dominant genes such as APP, PSEN1, or PSEN2. 30114415 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE The appearance of APP-dependent endosome anomalies in DS beginning in infancy and evolving into the full range of AD-related endosomal-lysosomal deficits provides a unique opportunity to characterize the earliest pathobiology of AD preceding the classical neuropathological hallmarks. 28988799 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 Biomarker disease BEFREE Taken together, these results identify an unrecognized physiological function of APP in promoting OB survival and bone formation, implicate APPswe acting as a dominant negative factor, and reveal a potential clinical value of NAC in treatment of AD-associated osteoporotic deficits. 30349052 2018
Entrez Id: 351
Gene Symbol: APP
APP
0.500 GeneticVariation disease CLINVAR Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series. 30279455 2018