Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker group GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.300 Biomarker group GENOMICS_ENGLAND
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
0.300 Biomarker group CTD_human An integrative approach to identify YB-1-interacting proteins required for cisplatin resistance in MCF7 and MDA-MB-231 breast cancer cells. 21466612 2011
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
0.200 Biomarker group RGD Proteomic analysis of expression and protein interactions in a 6-hydroxydopamine-induced rat brain lesion model. 20403401 2010
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.100 Biomarker group HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.100 Biomarker group HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.100 Biomarker group HPO
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: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve
0.100 Biomarker group HPO
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
0.100 Biomarker group HPO
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
0.100 Biomarker group HPO
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy
0.100 Biomarker group HPO
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
0.100 Biomarker group HPO
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease
0.300 Biomarker phenotype CTD_human Characteristic molecular and proteomic signatures of drug-induced liver injury in a rat model. 25231249 2015
CUI: C0018800
Disease: Cardiomegaly
Cardiomegaly
0.200 Biomarker phenotype RGD Compromised mitochondrial remodeling in compensatory hypertrophied myocardium of spontaneously hypertensive rat. 24388463 2014
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: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
0.100 Biomarker phenotype HPO
CUI: C0003578
Disease: Apnea
Apnea
0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia
0.100 Biomarker phenotype HPO
CUI: C0013421
Disease: Dystonia
Dystonia
0.100 Biomarker phenotype HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly
0.100 Biomarker phenotype HPO
CUI: C0023380
Disease: Lethargy
Lethargy
0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO