Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 GeneticVariation disease BEFREE Pooled in-hospital mortality for Sepsis-2-defined sepsis and severe sepsis was 19% (95% CI 12-29%) and 39% (95% CI 30-47%) respectively, and sepsis mortality was associated with the proportion of HIV-infected participants. 31186062 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 GeneticVariation disease BEFREE Nine studies on tuberculosis (TB) were pooled to give an overall incidence rate estimate of 60 (95% confidence interval [CI] 30-70) per 1,000 child-years. 30945963 2019
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 GeneticVariation disease BEFREE Pooled in-hospital mortality for Sepsis-2-defined sepsis and severe sepsis was 19% (95% CI 12-29%) and 39% (95% CI 30-47%) respectively, and sepsis mortality was associated with the proportion of HIV-infected participants. 31186062 2019
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
0.010 Biomarker disease BEFREE The incidence rate of the MetS in early adulthood was 111·6 (95 % CI 98·7, 126·3) per 10 000 person-years, with higher values in boys (210·1 (95 % CI 183·0, 241·3)), compared with girls (39·7 (95 % CI 30·2, 52·1)). 31506131 2019
CUI: C1719672
Disease: Severe Sepsis
Severe Sepsis
0.010 GeneticVariation disease BEFREE Pooled in-hospital mortality for Sepsis-2-defined sepsis and severe sepsis was 19% (95% CI 12-29%) and 39% (95% CI 30-47%) respectively, and sepsis mortality was associated with the proportion of HIV-infected participants. 31186062 2019
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease
0.010 GeneticVariation disease BEFREE The incidences of grades II-IV acute graft-versus-host disease (GVHD) and chronic GVHD were 34 (95% CI 30-37%) and 51 (95% CI 46-56%), respectively. 29713245 2018
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
0.010 AlteredExpression disease BEFREE These results suggest that the impaired mitochondrial activity could be due to the broken interaction between DJ-1 and NDUFS3 and that downregulation of DJ-1 in sperm and testes contributes to AS pathogenesis. 29849492 2018
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease
0.010 GeneticVariation disease BEFREE The incidences of grades II-IV acute graft-versus-host disease (GVHD) and chronic GVHD were 34 (95% CI 30-37%) and 51 (95% CI 46-56%), respectively. 29713245 2018
Non-ST Elevated Myocardial Infarction
0.010 Biomarker disease BEFREE The average proportion of OCA in NSTEMI was 34% (95% CI 30-37%). 29422071 2018
CUI: C0030193
Disease: Pain
Pain
0.010 Biomarker phenotype BEFREE Visual analog scale scores highlighted a decrease in pain in the active TENS group compared with the placebo group (entry: -11 mm, 95% confidence interval [CI] -17 to -5; contact: -21.9 mm, 95% CI -30 to -13.9; biopsy: -30.5 mm, 95% CI -47.1 to -13.8, P<.001). 28079781 2017
CUI: C0275524
Disease: Coinfection
Coinfection
0.010 Biomarker phenotype BEFREE Of these people, 7326 had T gondii co-infection and we estimated the pooled worldwide prevalence of T gondii infection to be 35·8% (95% CI 30·8-40·7). 28159548 2017
CUI: C0011265
Disease: Presenile dementia
Presenile dementia
0.010 GeneticVariation disease BEFREE Median age at onset was 35 years (95% CI 30-36) for asymptomatic pre-MCI, 38 years (37-40) for symptomatic pre-MCI, 44 years (43-45) for MCI, and 49 years (49-50) for dementia. 21296022 2011
CUI: C0497327
Disease: Dementia
Dementia
0.010 GeneticVariation disease BEFREE Median age at onset was 35 years (95% CI 30-36) for asymptomatic pre-MCI, 38 years (37-40) for symptomatic pre-MCI, 44 years (43-45) for MCI, and 49 years (49-50) for dementia. 21296022 2011
CUI: C0853879
Disease: Invasive carcinoma of breast
Invasive carcinoma of breast
0.010 Biomarker disease BEFREE Biomarker signatures of mitochondrial NDUFS3 in invasive breast carcinoma. 21867691 2011
CUI: C1134719
Disease: Invasive Ductal Breast Carcinoma
Invasive Ductal Breast Carcinoma
0.010 Biomarker disease BEFREE Besides being a robust indicator of breast cancer aggressiveness, NDUFS3 also shows clear signatures of a hypoxia/necrosis marker in invasive ductal carcinoma specimens. 21867691 2011
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
0.010 Biomarker disease BEFREE Median age at onset was 35 years (95% CI 30-36) for asymptomatic pre-MCI, 38 years (37-40) for symptomatic pre-MCI, 44 years (43-45) for MCI, and 49 years (49-50) for dementia. 21296022 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.010 AlteredExpression disease LHGDN Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis. 19034380 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 GeneticVariation disease BEFREE A priori, UA patients had a 35% (95% CI 30-40%) risk of developing RA, which increased to 66% (95% CI 57-75%) in patients who were ACPA-positive. 17341507 2007
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
0.010 GeneticVariation disease BEFREE A biochemical diagnosis of complex I deficiency on cultured amniocytes from a later pregnancy was confirmed through the identification of disease causing NDUFS3 mutations in these cells. 14729820 2004
CUI: C0013080
Disease: Down Syndrome
Down Syndrome
0.010 AlteredExpression disease LHGDN The protein levels of complex I 30-kDa subunit were significantly decreased in cerebral cortex of fetal DS brain. 11771736 2001
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 Biomarker disease BEFREE Enhancing co-translational quality control prevents C-I30 C-terminal extension and rescues mitochondrial and neuromuscular degeneration in a Parkinson's disease model. 31378462 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.020 AlteredExpression disease BEFREE In MPP<sup>+</sup>-induced cellular model of PD, reduction in prohibitin level was found to be associated with a loss in its binding with Ndufs3, a mitochondrial complex I protein partner. 28062948 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.100 GeneticVariation group GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448 2016
CUI: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
0.100 GeneticVariation phenotype GWASDB Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis. 22675575 2012
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
0.100 GeneticVariation phenotype GWASDB Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. 22885924 2012