Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.100 Biomarker disease HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		0.100 Biomarker phenotype HPO
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		0.100 Biomarker phenotype HPO
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: 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: C2079538
Disease: Charcot-Marie-Tooth disease, Type 2A
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: 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: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.310 GeneticVariation group BEFREE TOMM40 poly-T repeat lengths, age of onset and psychosis risk in Alzheimer disease. 21820212 2011
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		0.310 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 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: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.050 GeneticVariation disease BEFREE TOMM40 and APOE common genetic variants are not Parkinson's disease risk factors. 23522842 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: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		0.020 GeneticVariation disease BEFREE TOMM40 polymorphisms in Italian Alzheimer's disease and frontotemporal dementia patients. 23546992 2013
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		0.020 GeneticVariation disease BEFREE TOMM40 polymorphisms in Italian Alzheimer's disease and frontotemporal dementia patients. 23546992 2013
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.050 Biomarker disease BEFREE TOM40 mediates mitochondrial dysfunction induced by α-synuclein accumulation in Parkinson's disease. 23626796 2013
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.310 GeneticVariation disease BEFREE TOMM40 rs2075650 may represent a new candidate gene for vulnerability to major depressive disorder. 24549102 2014
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.310 GeneticVariation disease BEFREE TOMM40 rs2075650 may represent a new candidate gene for vulnerability to major depressive disorder. 24549102 2014
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		0.310 Biomarker disease PSYGENET TOMM40 rs2075650 may represent a new candidate gene for vulnerability to major depressive disorder. 24549102 2014
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.310 Biomarker disease PSYGENET TOMM40 rs2075650 may represent a new candidate gene for vulnerability to major depressive disorder. 24549102 2014
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: C0234985
Disease: Mental deterioration
Mental deterioration 		0.130 Biomarker phenotype BEFREE TOMM40 and APOE Gene Expression and Cognitive Decline in Japanese Alzheimer's Disease Subjects. 28984592 2017