Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE (2) Four additional AD risk SNPs were nominally associated with obesity (rs17125944 at FERMT2, pBMI  = 4.03 × 10(-05), pBMI corr  = 2.50 × 10(-03) ; rs3851179 at PICALM; pBMI  = 0.002, rs2075650 at TOMM40/APOE, pBMI  = 0.024, rs3865444 at CD33, pBMI  = 0.024). 24788522 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Alzheimer's disease susceptibility genes APOE and TOMM40, and hippocampal volumes in the Lothian birth cohort 1936. 24260406 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Alzheimer's disease susceptibility genes APOE and TOMM40, and brain white matter integrity in the Lothian Birth Cohort 1936. 24508314 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE TOMM40 risk alleles were approximately twice as frequent in AD subjects as controls. 19668339 2009
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE TOMM40 poly-T repeat lengths, age of onset and psychosis risk in Alzheimer disease. 21820212 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE TOMM40 intron 6 poly-T length may explain some of the variation in age at onset in PSEN2 familial AD and may be associated with AD neuropathology in persons with APOE ε3/ε3. 23183136 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE TOMM40 polymorphisms in Italian Alzheimer's disease and frontotemporal dementia patients. 23546992 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 AlteredExpression disease BEFREE TOMM40 gene expression remained significantly lower in AD patients at all time-points compared to controls, supported by confirmatory RT-PCR results. 25201778 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 AlteredExpression disease BEFREE TOMM40 mRNA expression was lower in AD subjects and was correlated with cognitive decline. 28984592 2017
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE TOMM40 '523 is associated with Alzheimer's disease (AD), but APOE linkage disequilibrium confounds this association. 31322569 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 Biomarker disease BEFREE A novel gene (TOMM40) has been consistently associated with Alzheimer's disease (AD), but has received no attention in depression. 24549102 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE A number of recent studies have not replicated the association of the translocase of the outer mitochondrial membrane pore subunit (TOMM40) rs10524523 polymorphism, which is in linkage disequilibrium with apolipoprotein E (APOE), with age of onset of Alzheimer's disease (AD). 23333464 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE A polyT repeat in an intronic polymorphism (rs10524523) in the TOMM40 gene, which encodes an outer mitochondrial membrane translocase involved in the transport of amyloid-β and other proteins into mitochondria, has been implicated in Alzheimer's disease and APOE-TOMM40 genotypes have been shown to modify disease risk and age at onset of symptoms. 24103330 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASDB ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. 24770881 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASCAT ABCC9 gene polymorphism is associated with hippocampal sclerosis of aging pathology. 24770881 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Alleles A of CD33 rs3865444 and A of TOMM40 rs157580 were both protective factors for AD onset (OR=0.94, 95% CI: 0.90-0.98, P value=0.003; OR=0.62, 95% CI: 0.57-0.66, P value <0.001). 26795201 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE An inherited variable poly-T repeat genotype in TOMM40 in Alzheimer disease. 20457951 2010
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASCAT APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. 23419831 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE APOE4/TOMM40 locus and the ALZ PRS, but not the PRS for SCZ, were associated with greater cognitive decline. 26873889 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Association and expression analyses with single-nucleotide polymorphisms in TOMM40 in Alzheimer disease. 21825236 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Association of AD risk and AAO with genotyped and imputed SNPs located in an 800-Mb region including APOE in the entire Alzheimer's Disease Genetics Consortium data set and with the TOMM40 poly-T marker genotyped in a subset of 1256 cases and 1605 controls. 22869155 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Biochemical studies of poly-T variants in the Alzheimer's disease associated TOMM40 gene. 22596268 2012
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Both methods' results showed two identical significant SNPs associated with the A β-42 levels in CSF (rs2075650 at intron region TOMM40 with p-value ≥ 1 × 10-16 and rs439401 in the intergenic region of LOC100129500 and APOC1 with p-value ≥ 1 × 10-9) and highlighted APOC1 and TOMM40, which are well-known genes previously associated with AD. 26576771 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease BEFREE Collectively, our analysis shows TOMM40 rs2075650 polymorphism is associated with AD susceptibility in Asian, Caucasian, and mixed populations. 27328316 2016
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.500 GeneticVariation disease GWASDB Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. 21460841 2011