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: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.100 GeneticVariation group GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: C0005940
Disease: Bone Diseases
Bone Diseases
0.020 GeneticVariation group BEFREE Autosomal dominant osteopetrosis type II (ADO II) is a rare, heritable bone disorder characterized by a high bone mass and insufficient osteoclast activity. 24336069 2014
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: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE The objective of the study was to study the antiproliferative effects of 8-Cl-ADO on growth and proliferation in B-lymphocytes of Carney complex patients that have PKA defects and to determine whether 8-CL-ADO could be used as a therapeutic agent in the treatment of Carney complex-associated tumors. 19773399 2009
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: 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: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
0.010 Biomarker group BEFREE The CHB that is a major challenge for closure of VSDs is less common with soft, specially designed ADO II, which does not compress the conducting system. 24130123 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: C0001925
Disease: Albuminuria
Albuminuria
0.100 GeneticVariation phenotype GWASCAT Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure. 30220432 2018
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: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0013404
Disease: Dyspnea
Dyspnea
0.020 GeneticVariation phenotype BEFREE The ability to predict mortality was compared in terms of discrimination by Harrell's C (HC) index and calibration using graphical comparison among the GOLD (Global Initiative for Chronic Obstructive Lung Disease) 2011, GOLD 2017, GOLD grade, BODE (BMI, Airflow Obstruction, Dyspnea, Exercise), updated BODE, BODEx (BMI, Airflow Obstruction, Dyspnea, Exacerbation), e-BODE (Exacerbation and BODE), ADO (Age, Dyspnea, Airflow Obstruction), COPD prognostic index (CPI), and simplified/optimized B-AE-D (BMI, Acute Exacerbation, Dyspnea) indexes. 31665736 2019
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: C0036572
Disease: Seizures
Seizures
0.010 Biomarker phenotype BEFREE All A1AR agonists were efficacious in preventing seizure and promoting survival. 31069755 2019
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
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis
0.100 GeneticVariation disease BEFREE Recent studies have reported loss-of-function mutations in the chloride channel 7 (CLCN7) gene as a cause of autosomal dominant osteopetrosis type II (ADO-II). 19288050 2009
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis
0.100 Biomarker disease BEFREE Here we describe a patient who presented with a clinical picture of Autosomal Dominant Osteopetrosis type I (ADO I), in whom we could identify the first deletion in the LRP5 gene causing increased bone mass. 21600326 2011
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis
0.100 GeneticVariation disease BEFREE Autosomal dominant osteopetrosis type II (ADO II) is a rare, heritable bone disorder characterized by a high bone mass and insufficient osteoclast activity. 24336069 2014
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis
0.100 GeneticVariation disease BEFREE There are three types of osteopetrosis: autosomal recessive osteopetrosis (ARO), autosomal dominant osteopetrosis type II (ADO II), and intermediate autosomal recessive osteopetrosis (IARO). 21962762 2012
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis
0.100 GeneticVariation disease BEFREE Mutations in the CLCN7 gene result in autosomal dominant osteopetrosis type II (ADO‑II), autosomal recessive osteopetrosis (ARO) and intermediate ARO (IARO). 30942407 2019
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: 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