ADO, 2-aminoethanethiol dioxygenase, 84890

N. diseases: 41; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome
0.020 GeneticVariation disease BEFREE We identified three loci associated with VKH syndrome susceptibility (IL23R-C1orf141, rs117633859, P(combined) = 3.42 × 10(-21), odds ratio (OR) = 1.82; ADO-ZNF365-EGR2, rs442309, P(combined) = 2.97 × 10(-11), OR = 1.37; and HLA-DRB1/DQA1, rs3021304, P(combined) = 1.26 × 10(-118), OR = 2.97). 25108386 2014
CUI: C0005940
Disease: Bone Diseases
Bone Diseases
0.020 GeneticVariation group BEFREE Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base. 26056022 2016
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis
0.010 Biomarker disease BEFREE Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base. 26056022 2016
Oestrogen receptor positive breast cancer
0.010 GeneticVariation disease BEFREE There was weaker evidence for iCHAV4, located 5' of ADO, associated only with ER-positive breast cancer (OR = 0.93 [0.90-0.96]). 26073781 2015
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis
0.100 GeneticVariation disease BEFREE Novel mutations of CLCN7 cause autosomal dominant osteopetrosis type II (ADO-II) and intermediate autosomal recessive osteopetrosis (IARO) in Chinese patients. 26395888 2016
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
Autosomal Recessive Osteopetrosis
0.030 GeneticVariation disease BEFREE Mutations in the chloride channel 7 gene (CLCN7) lead to chloride channel defect, which results in autosomal dominant osteopetrosis type II (ADO-II), autosomal recessive osteopetrosis (ARO), and intermediate autosomal recessive osteopetrosis (IARO). 26395888 2016
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome
0.020 Biomarker disease BEFREE In addition, we also successfully replicated the association of VKH syndrome with ADO-ZNF365-EGR2 in a Thai population. 26628628 2016
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
0.010 GeneticVariation disease BEFREE We report interventional re-opening of a PDA for reverse Potts shunt circulation 12 months after closure in a 3.8 year old child, suffering from right ventricular (RV) failure due to suprasystemic pulmonary artery hypertension (PAH) after ADO I implantation. 27516058 2017
Idiopathic pulmonary arterial hypertension
0.010 Biomarker disease BEFREE We report interventional re-opening of a PDA for reverse Potts shunt circulation 12 months after closure in a 3.8 year old child, suffering from right ventricular (RV) failure due to suprasystemic pulmonary artery hypertension (PAH) after ADO I implantation. 27516058 2017
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.100 GeneticVariation phenotype GWASCAT Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension. 27618447 2016
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.100 GeneticVariation phenotype GWASCAT Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci. 27618448 2016
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects
0.010 Biomarker group BEFREE Among the 114 patients submitted to ADO II-AS implantation at our institution, 12 received this device as off-label treatment of paravalvular leak (n = 5), sinus of Valsalva fissuration (n = 2), accessory atrial septal defect (n = 2), muscular ventricular septal defect (n = 1), bleeding bronchial artery aneurysm (n = 1) and reverse shunt due to abnormal origin of left subclavian artery from pulmonary artery (n = 1). 27898501 2017
CUI: C4523802
Disease: Bronchial artery aneurysm
Bronchial artery aneurysm
0.010 GeneticVariation disease BEFREE Among the 114 patients submitted to ADO II-AS implantation at our institution, 12 received this device as off-label treatment of paravalvular leak (n = 5), sinus of Valsalva fissuration (n = 2), accessory atrial septal defect (n = 2), muscular ventricular septal defect (n = 1), bleeding bronchial artery aneurysm (n = 1) and reverse shunt due to abnormal origin of left subclavian artery from pulmonary artery (n = 1). 27898501 2017
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 Biomarker phenotype BEFREE Emerging evidence suggests that the adenosine (Ado) receptors may play crucial roles in tumor progression. 27911956 2016
Fenestration (morphologic abnormality)
0.010 Biomarker disease BEFREE Patients in whom fenestration closure was performed with an ADO II and who had at least 6 months of follow-up were included in this study. 28261286 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.010 Biomarker group BEFREE In this study, we have predicted a 3D model structure for ADO and summarized the biological roles and the pathological consequences which are associated with the altered expression and functioning of ADO and CDO in case of cancer, neurodegenerative disorders and other human diseases. 28439920 2017
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.010 Biomarker group BEFREE In this study, we have predicted a 3D model structure for ADO and summarized the biological roles and the pathological consequences which are associated with the altered expression and functioning of ADO and CDO in case of cancer, neurodegenerative disorders and other human diseases. 28439920 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.010 Biomarker group BEFREE In this study, we have predicted a 3D model structure for ADO and summarized the biological roles and the pathological consequences which are associated with the altered expression and functioning of ADO and CDO in case of cancer, neurodegenerative disorders and other human diseases. 28439920 2017
CUI: C0013404
Disease: Dyspnea
Dyspnea
0.020 Biomarker phenotype BEFREE Five clusters were identified based on three PCA components, which accounted for 60% of variance of the data.Importantly, couch potatoes (i.e. the most inactive cluster) were characterised by higher BMI, lower FEV<sub>1</sub>, worse dyspnoea and higher ADO index compared to other clusters ( p < 0.05 for all). 28774199 2017
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis
0.100 GeneticVariation disease BEFREE Clinical Significance of DXA and HR-pQCT in Autosomal Dominant Osteopetrosis (ADO II). 29018903 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.040 Biomarker disease BEFREE Our analyses showed best discriminatory performance for the ADO and updated BODE scores in patients with COPD. 29495970 2018
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
0.040 Biomarker disease BEFREE In primary care, ADO appears superior at predicting death in COPD. 29724388 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE Our screens also identified that the metabolic protein 2-aminoethanethiol dioxygenase (Ado) modulates sensitivity to TNF-mediated killing by cytotoxic lymphocytes and is required for optimal control of tumors in vivo. 29776993 2018
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
0.010 Biomarker disease BEFREE Our findings confirmed the association of four loci (<i>LACC1</i>, <i>CEBPB-PTPN1</i>, <i>ADO-EGR2</i> and <i>RIPK2</i>) in Chinese Han patients with BD. 29907633 2018
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
0.020 Biomarker disease BEFREE Moreover, the expression of the enzyme responsible for the degradation of ADO, adenosine deaminase, was higher in tolerant patients with respect to the nontolerant group along the immunosuppression withdrawal. 30019408 2019