Source: ALL
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 While early reports indicated that the longer length poly-T allele of TOMM40 increases risk for AD, these findings have not been consistently replicated in further studies. 30517207 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE While a stronger role of the APOE than TOMM40 variants in Alzheimer's disease was suggested, comparative contribution of the TOMM40-APOE variants in the regulation of body weight remains elusive. 30462377 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 Biomarker disease BEFREE We report the fine mapping/sequencing results of promoter and regulatory regions of APOE cluster genes (APOE, APOC1, APOC4, APOC2, and TOMM40) in Alzheimer's disease (AD) risk as well as in the progression from mild cognitive impairment (MCI) to AD. 21752496 2011
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.020 Biomarker disease BEFREE We report here that TOM40 is significantly reduced in the brain of PD patients and in α-Syn transgenic mice. 23626796 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE We report evidence that the association of SNPs in the TOMM40 gene with AD is potentially mediated by both gene expression and DNA methylation in the prefrontal cortex. 29777097 2018
CUI: C0751706
Disease: Primary Progressive Nonfluent Aphasia
Primary Progressive Nonfluent Aphasia 		0.010 GeneticVariation disease BEFREE We report association of APOE and TOMM40 with behavioural variant frontotemporal dementia, and ARHGAP35 and SERPINA1 with progressive non-fluent aphasia. 28387812 2017
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.020 GeneticVariation disease BEFREE We report association of APOE and TOMM40 with behavioural variant frontotemporal dementia, and ARHGAP35 and SERPINA1 with progressive non-fluent aphasia. 28387812 2017
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.020 GeneticVariation disease BEFREE We report association of APOE and TOMM40 with behavioural variant frontotemporal dementia, and ARHGAP35 and SERPINA1 with progressive non-fluent aphasia. 28387812 2017
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.020 GeneticVariation disease BEFREE We previously reported that specific single nucleotide polymorphisms in the APOE or TOMM40 genes affecting the structure and production of apoE were associated with epilepsy, more impaired hand function and gastrostomy tube feeding in children with cerebral palsy (CP). 25703783 2015
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.020 GeneticVariation disease BEFREE We previously reported that specific single nucleotide polymorphisms in the APOE or TOMM40 genes affecting the structure and production of apoE were associated with epilepsy, more impaired hand function and gastrostomy tube feeding in children with cerebral palsy (CP). 25703783 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 GeneticVariation disease BEFREE We previously discovered that a polymorphic, deoxythymidine-homopolymer (poly-T, rs10524523) in intron 6 of the TOMM40 gene is associated with age-of-onset of Alzheimer's disease and with cognitive performance in elderly. 22359560 2012
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.020 GeneticVariation disease BEFREE We measured the mRNA levels of electron transport chain genes, and mitochondrial structural genes, Drp1 (dynamin-related protein 1), Fis1 (fission 1), Mfn1 (mitofusin 1), Mfn2 (mitofusin 2), Opa1 (optric atrophy 1), Tomm40 (translocase of outermembrane 40) and CypD (cyclophilin D) in grade III and grade IV HD patients and controls. 21257639 2011
CUI: C0276496
Disease: Familial Alzheimer Disease (FAD)
Familial Alzheimer Disease (FAD) 		0.510 GeneticVariation disease BEFREE We investigated the association between TOMM40 rs10524523, age of onset, and memory performance in patients with the PSEN1 M146L mutation in a large familial Alzheimer's disease Calabrian kindred, with a wide variability of onset not attributable to APOE. 23792692 2013
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 Biomarker disease BEFREE We identified a novel locus for T2D susceptibility at genome-wide significance (P<5 × 10(-8)) that maps to TOMM40-APOE, a region previously implicated in lipid metabolism and Alzheimer's disease. 27189021 2016
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.040 GeneticVariation disease BEFREE We identified a novel locus for T2D susceptibility at genome-wide significance (P<5 × 10(-8)) that maps to TOMM40-APOE, a region previously implicated in lipid metabolism and Alzheimer's disease. 27189021 2016
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE We highlight the discovery of a polymorphism in TOMM40 that, in addition to APOE, may improve risk prediction and review how TOMM40 genetic variants may impact the develop of LOAD independently from APOE. 27039903 2016
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE We genotyped the TOMM40 poly-T repeat using a novel statistical approach to refine the identification of allele length in 892 LOAD subjects and evaluated its effects on age of onset. 21820212 2011
CUI: C0007273
Disease: Carotid Artery Diseases
Carotid Artery Diseases 		0.010 GeneticVariation group BEFREE We found that two loci, chromosome 1p13.3 near CELSR2 and PSRC1 which contains rs646776, and 19q13.2 near TOMM40 and APOE which contains rs2075650, harbor risk alleles for CAAD. 19951432 2009
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.010 GeneticVariation disease BEFREE We found increased expression of the mitochondrial fission genes Drp1 and Fis1 (fission 1) and decreased expression of the mitochondrial fusion genes Mfn1 (mitofusin 1), Mfn2 (mitofusin 2), Opa1 (optic atrophy 1) and Tomm40. 21459773 2011
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.130 GeneticVariation phenotype BEFREE We found 2 independent associations among European-Americans in the 19q13.32 region: rs769449 (APOE intron; p = 3.1 × 10(-20)) and rs115881343 (TOMM40 intron; p = 6.6 × 10(-11)). rs769449 was also associated with cognitive decline among African-Americans (p = 0.005), but rs115881343 was not. 24468470 2014
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		0.050 GeneticVariation disease BEFREE We found 2 independent associations among European-Americans in the 19q13.32 region: rs769449 (APOE intron; p = 3.1 × 10(-20)) and rs115881343 (TOMM40 intron; p = 6.6 × 10(-11)). rs769449 was also associated with cognitive decline among African-Americans (p = 0.005), but rs115881343 was not. 24468470 2014
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.020 GeneticVariation disease BEFREE We dissected genetic profiles within the <i>TOMM40-APOE</i> region in 451 individuals from four European brain banks, including DLB and PDD cases with/without neuropathological evidence of AD-related pathology and healthy controls. 31788537 2019
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.500 Biomarker disease BEFREE We confirm that variation in/near APOE/TOMM40 (P = 6 × 10(-14)) alters PCA risk, but with smaller effect than for typical AD (PCA: odds ratio [OR] = 2.03, typical AD: OR = 2.83, P = .0007). 26993346 2016
CUI: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis 		0.010 GeneticVariation disease BEFREE We confirm that variation in/near APOE/TOMM40 (P = 6 × 10(-14)) alters PCA risk, but with smaller effect than for typical AD (PCA: odds ratio [OR] = 2.03, typical AD: OR = 2.83, P = .0007). 26993346 2016
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		0.400 GeneticVariation disease BEFREE We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect the APOE ε4-dependent association in LOAD. 25500937 2014