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Table 6 Top 10 Alzheimer Disease Genes ranked on Genotator score.

From: Genotator: A disease-agnostic tool for genetic annotation of disease

Gene Score Literature Support Reference
APOE 513 Effect of APOE genotype on amyloid plaque load and gray matter volume in Alzheimer disease. [52]
PSEN1 45.4 Early Onset Alzheimer's Disease with Spastic Paraparesis, Dysarthria and Seizures and N135 S Mutation in PSEN. [53]
ACE 28.4 Amyloid-beta-Related Genes SORL1 and ACE are Genetically Associated With Risk for Late-onset Alzheimer Disease in the Chinese Population. [54]
PRNP 23.1 Earlier onset of Alzheimer's disease: risk polymorphisms within PRNP, PRND, CYP46, and APOE genes. [55]
BCHE 22.7 Dipeptidyl carboxypeptidase 1 (DCP1) and butyrylcholinesterase (BCHE) gene interactions with the apolipoprotein E epsilon4 allele as risk factors in Alzheimer's disease and in Parkinson's disease with coexisting Alzheimer pathology. [56]
APOC1 20.8 APOE and APOC1 promoter polymorphisms and the risk of Alzheimer disease in African American and Caribbean Hispanic individuals [57]
IL1B 19.9 Assessment of Alzheimer's disease case-control associations using family-based methods. [58]
IL1A 19.5 Pharmacogenomics in Alzheimer's disease. [59]
MTHFR 19.3 Association of MTHFR gene polymorphism C677T with susceptibility to late-onset Alzheimer's disease. [60]
BDNF 17.5 Association between BDNF Val66Met polymorphism and Alzheimer disease, dementia with Lewy bodies, and Pick disease. [61]
  1. The table lists the title and reference of the research study supporting the gene-disease association together with the official gene symbol. A complete set of results is available online as Additional file 3.