Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 GeneticVariation disease BEFREE Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 GeneticVariation disease BEFREE In conclusion, we identified a novel Leigh syndrome causing NDUFS3 mutation and expanded the clinical spectrum caused by NDUFS3 mutations in this study. 30140060 2018
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.640 GeneticVariation disease BEFREE Correction: A novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30266949 2018
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.600 GeneticVariation disease CLINVAR
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease CLINVAR Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease UNIPROT Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. 14729820 2004
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease UNIPROT A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease CLINVAR A Novel NDUFS3 mutation in a Chinese patient with severe Leigh syndrome. 30140060 2018
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease CLINVAR Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
CUI: C4748766
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8 		0.600 GeneticVariation disease UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.110 GeneticVariation phenotype GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.110 GeneticVariation phenotype BEFREE The meta-analyses did not confirm or exclude a beneficial or detrimental effect of low-dose VKA compared to no VKA on mortality (RR 0.99, 95% CI 0.64 to 1.55; RD 1 fewer per 1000, 95% CI 34 fewer to 52 more; low-certainty evidence), symptomatic catheter-related VTE (RR 0.61, 95% CI 0.23 to 1.64; RD 31 fewer per 1000, 95% CI 62 fewer to 51 more; low-certainty evidence), major bleeding (RR 7.14, 95% CI 0.88 to 57.78; RD 12 more per 1000, 95% CI 0 fewer to 110 more; low-certainty evidence), minor bleeding (RR 0.69, 95% CI 0.38 to 1.26; RD 15 fewer per 1000, 95% CI 30 fewer to 13 more; low-certainty evidence), premature catheter removal (RR 0.82, 95% CI 0.30 to 2.24; RD 29 fewer per 1000, 95% CI 114 fewer to 202 more; low-certainty evidence), and catheter-related infection (RR 1.17, 95% CI 0.74 to 1.85; RD 71 more per 1000, 95% CI 109 fewer to 356; low-certainty evidence).LMWH versus VKAThree RCTs (641 participants) compared LMWH to VKA in adults. 29856471 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
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		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
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
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: 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: 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: C0342776
Disease: Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
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: 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: 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