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

BMC Medical Genomics

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

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]

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.

ISSN: 1755-8794