Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia
0.010 Biomarker disease BEFREE On the whole, the findings of the present study confirm the effects of 'governor vessel‑unblocking and mind‑regulating' acupuncture therapy on cognitive dysfunction induced by brain ischemia in rats, and that the mechanisms underlying the effects of this treatment might be mediated through the inhibition of TOMM40 and TIMM17A synthesis, which can relieve mitochondrial dysfunction from the accumulation of Aβ. 30431067 2019
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
0.010 AlteredExpression disease BEFREE We assessed the effects of eAE-HRS on myocardial injury and oxidative damage in the MI model of rats and detected the effects of eAE-HRS on the expressions of cardiac OGG1 and Tom40, Tom20, and Tim23. 30033489 2019
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: 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: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
0.010 GeneticVariation phenotype BEFREE Multivariate logistic regression analysis with adjustment for age, gender and body mass index revealed that rs964184 of ZPR1 (P=5.1x10‑7; odds ratio, 1.37; dominant model), rs4845625 of IL6R (P=0.0019, odds ratio, 1.25; dominant model) and rs46522 of UBE2Z (P=0.0039, odds ratio, 1.19; dominant model) were significantly associated with hypertriglyceridemia, and that rs599839 of PSRC1 (P=0.0004, odds ratio, 0.70; dominant model) and rs2075650 of TOMM40 (P=0.0004, odds ratio, 1.43; dominant model) were significantly associated with hyper‑LDL‑cholesterolemia. 26238946 2015
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.010 Biomarker group BEFREE The loci that replicated (FDR < 5%) included APOE/TOMM40 (associated with Alzheimer's disease), CDKN2B/ANRIL (implicated in the regulation of cellular senescence), ABO (tags the O blood group), and SH2B3/ATXN2 (a signaling gene that extends lifespan in Drosophila and a gene involved in neurological disease). 26677855 2015
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia
0.010 GeneticVariation disease BEFREE Therefore, ZPR1, IL6R, and UBE2Z may be susceptibility loci for hypertriglyceridemia, whereas PSRC1 and TOMM40 may be such loci for hyper-LDL-cholesterolemia in Japanese individuals. 26238946 2015
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.010 GeneticVariation disease BEFREE Our results suggest that TOMM40 rs2075650 may be a risk factor for the development of depression characterized by reduced extraversion, impaired executive function, and decreased positive emotional recall, and reduced top-down cortical control during sad emotion processing. 24549102 2014
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.010 GeneticVariation disease BEFREE Our results suggest that TOMM40 rs2075650 may be a risk factor for the development of depression characterized by reduced extraversion, impaired executive function, and decreased positive emotional recall, and reduced top-down cortical control during sad emotion processing. 24549102 2014
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 GeneticVariation disease BEFREE These results suggest that previous findings of an association of the TOMM40 short allele with better cognitive performance, independently from the APOE variant status, are pertinent to elderly with diabetes. 25044051 2014
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 GeneticVariation group BEFREE These results suggest that previous findings of an association of the TOMM40 short allele with better cognitive performance, independently from the APOE variant status, are pertinent to elderly with diabetes. 25044051 2014
CUI: C0028754
Disease: Obesity
Obesity
0.010 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: C0344315
Disease: Depressed mood
Depressed mood
0.010 GeneticVariation phenotype BEFREE Our results suggest that TOMM40 rs2075650 may be a risk factor for the development of depression characterized by reduced extraversion, impaired executive function, and decreased positive emotional recall, and reduced top-down cortical control during sad emotion processing. 24549102 2014
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
0.010 GeneticVariation group BEFREE Four polymorphisms in APOA5, TOMM40, and CETP were shown to be significantly associated with CKD risk, and a significant interaction between the two APOA5 SNPs and BMI on CKD risk was also demonstrated. 25311932 2014
Exudative age-related macular degeneration
0.010 GeneticVariation disease BEFREE The TOMM40 rs2075650 polymorphism was not statistically significantly associated with the nAMD or PCV phenotype (p>0.05). 24146538 2013
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
0.010 GeneticVariation disease BEFREE Genotype and allele distribution of the TOMM40 polymorphisms between the FTLD group and controls did not show any statistical difference. 23546992 2013
CUI: C1504336
Disease: Polypoidal choroidal vasculopathy
Polypoidal choroidal vasculopathy
0.010 GeneticVariation disease BEFREE The TOMM40 rs2075650 polymorphism was not statistically significantly associated with the nAMD or PCV phenotype (p>0.05). 24146538 2013
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
0.010 GeneticVariation disease BEFREE Among 24 studies (4703 participants) of other genetic polymorphisms, there was preliminary evidence of an association with CAA of polymorphisms in the transforming growth factor β1 gene (two studies, 449 participants), translocase of outer mitochondrial membrane 40 gene (one study, 723 participants) and the complement component receptor 1 gene (one study, 544 participants). 23457231 2013
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
0.010 GeneticVariation disease BEFREE Pleiotropy and allelic heterogeneity in the TOMM40-APOE genomic region related to clinical and metabolic features of hepatitis C infection. 22898894 2012
Primary Progressive Aphasia (disorder)
0.010 GeneticVariation disease BEFREE Inside this region of 16.3 kb, LD (r2 = 0.14) between TOMM40 (rs157590) and APOE (rs429358) was observed in PPA, but not in bvFTD and in controls. 22710912 2012
Behavioral variant of frontotemporal dementia
0.010 GeneticVariation disease BEFREE Inside this region of 16.3 kb, LD (r2 = 0.14) between TOMM40 (rs157590) and APOE (rs429358) was observed in PPA, but not in bvFTD and in controls. 22710912 2012
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
0.010 GeneticVariation group BEFREE In fact, Nectin-2 (NC-2); apolipoprotein E (APOE); glycoprotein carcinoembryonic antigen related cell adhesion molecule-16 (CEACAM-16); B-cell lymphoma-3 (Bcl-3); translocase of outer mitochondrial membrane 40 homolog (T0MM-40); complement receptor-1 (CR-l); APOJ or clusterin and C-type lectin domain A family-16 member (CLEC-16A); Phosphatidyl inositol- binding clathrin assembly protein gene (PICALM); ATP-bonding cassette, sub family A, member 7 (ABCA7); membrane spanning A4 (MSA4); CD2 associated protein (CD2AP); cluster of differentiation 33 (CD33); and ephrin receptor A1 (EPHA1) result in a genetic signature that might affect individual brain susceptibility to infection by the herpes virus family during aging, leading to neuronal loss, inflammation, and amyloid deposition. 21891868 2011
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
Charcot-Marie-Tooth disease, Type 2A
0.010 GeneticVariation disease BEFREE Charcot-Marie-Tooth disease type 2A (CMT2A) is an autosomal dominant axonal form of peripheral neuropathy caused by mutations in the mitofusin 2 gene (MFN2), which encodes a mitochondrial outer membrane protein that promotes mitochondrial fusion. 21285398 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