Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021087
Disease: Abnormal social behavior
Abnormal social behavior
0.100 Biomarker phenotype HPO
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
0.100 Biomarker disease HPO
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
0.300 Biomarker disease CTD_human Hidden heterogeneity in Alzheimer's disease: Insights from genetic association studies and other analyses. 29107063 2018
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
0.300 Biomarker disease CTD_human Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers. 30320580 2018
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
0.300 Biomarker disease CTD_human Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. 30319691 2018
CUI: C0546126
Disease: Acute Confusional Senile Dementia
Acute Confusional Senile Dementia
0.300 Biomarker disease CTD_human Association Analysis of Polymorphisms in TOMM40, CR1, PVRL2, SORL1, PICALM, and 14q32.13 Regions in Colombian Alzheimer Disease Patients. 27023435 2017
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
CUI: C0349198
Disease: Acute transient psychotic disorder
Acute transient psychotic disorder
0.100 GeneticVariation disease GWASCAT Genome-wide association study of Alzheimer's disease with psychotic symptoms. 22005930 2012
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.300 Biomarker disease CTD_human c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma. 27602772 2016
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.120 GeneticVariation disease GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.120 GeneticVariation disease GWASDB Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. 22694956 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.120 GeneticVariation disease GWASCAT Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.120 GeneticVariation disease GWASCAT Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3. 22694956 2012
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.120 GeneticVariation disease BEFREE In conclusion, our study did not confirm the impact of rs2075650 on advanced AMD risk, indicating that rs2075650 is unlikely a superior marker for APOE/TOMM40 susceptible region with advanced AMD in Han Chinese population. 25304313 2015
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.120 GeneticVariation disease BEFREE Recently, the rs2075650 single nucleotide polymorphism in the translocase of outer mitochondrial membrane 40 homolog (TOMM40) gene was identified as a risk factor for AMD and Alzheimer disease. 24146538 2013
CUI: C0085631
Disease: Agitation
Agitation
0.100 Biomarker phenotype HPO
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0
0.100 Biomarker phenotype HPO
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0
0.100 Biomarker phenotype HPO
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
0.300 Biomarker disease CTD_human Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers. 30320580 2018
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
0.300 Biomarker disease CTD_human Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. 30319691 2018
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
0.300 Biomarker disease CTD_human Hidden heterogeneity in Alzheimer's disease: Insights from genetic association studies and other analyses. 29107063 2018
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset
0.300 Biomarker disease CTD_human Association Analysis of Polymorphisms in TOMM40, CR1, PVRL2, SORL1, PICALM, and 14q32.13 Regions in Colombian Alzheimer Disease Patients. 27023435 2017
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.400 GeneticVariation disease BEFREE PVRL2, TOMM40 and APOC1, could also yield a predisposition to LOAD. 19442637 2009
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.400 GeneticVariation disease BEFREE A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease. 20298972 2010
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset
0.400 GeneticVariation disease BEFREE In conclusion, this haplotype-phenotype analysis of apoE expression in PMB suggests that either; (1) the cis-regulation of APOE expression levels extends far upstream of the APOE promoter or (2) an APOE epsilon4 allele independent mechanism involving the TOMM40 gene plays a role in the risk of AD. 19554612 2010