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: 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: C0162429
Disease: Malnutrition
Malnutrition 		0.010 Biomarker disease BEFREE ADO and RFA could be excellent sources of protein and bioavailable Fe, making it a sustainable, low-cost food source to prevent malnutrition in humans. 31623146 2019
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis 		0.100 GeneticVariation disease BEFREE A markedly elevated BB isoenzyme fraction of serum creatine kinase was noted in four male siblings and correlated with typical radiographic findings of autosomal dominant osteopetrosis Type II (ADO Type II). 1516225 1992
CUI: C0036572
Disease: Seizures
Seizures 		0.010 Biomarker phenotype BEFREE All A1AR agonists were efficacious in preventing seizure and promoting survival. 31069755 2019
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.050 Biomarker disease BEFREE Although other forms of osteopetrosis are considerably more severe, the name "benign osteopetrosis" previously used for ADO II is probably a misnomer. 10617161 2000
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: 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: 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
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.050 GeneticVariation disease BEFREE Because some ARO patients have mutations in both copies of the ClCN7 gene, ADO II is allelic with a subset of ARO cases. 11741829 2001
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: 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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.040 Biomarker disease BEFREE External Validation Of The Updated ADO Score In COPD Patients From The Birmingham COPD Cohort. 31749613 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: C0001925
Disease: Albuminuria
Albuminuria 		0.100 GeneticVariation phenotype GWASCAT Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure. 30220432 2018
CUI: C0042164
Disease: Uveitis
Uveitis 		0.010 GeneticVariation disease BEFREE Genome-wide association study (GWAS) provided a powerful tool for genome-wide level analysis to explore the genetic predisposition for uveitis and revealed several genes to be associated with uveitis including IL23R/C1orf141, STAT4 and ADO/ZNF365/EGR2. 31669406 2020
CUI: C0009319
Disease: Colitis
Colitis 		0.010 Biomarker disease BEFREE Given the central role of intestinal epithelial cells to the development of colitis, we hypothesized that specific Ado receptors would contribute to disease resolution in mucosal inflammation as modeled by dextran sodium sulfate (DSS) colitis. 19342675 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: C0018801
Disease: Heart failure
Heart failure 		0.010 Biomarker disease BEFREE Here, we investigated the role of A1R signaling at physiologically relevant ADO concentrations on HF SAN pacemaker cells. 31751583 2020
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.010 Biomarker disease BEFREE Here, we investigated the role of A1R signaling at physiologically relevant ADO concentrations on HF SAN pacemaker cells. 31751583 2020
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		0.020 GeneticVariation disease BEFREE However, the basis for immunosuppression by Ado has not been well defined, and effects of 2'-deoxyadenosine (dAdo), which does not activate Ado receptors, have also been implicated in causing SCID. 15580654 2005
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		0.010 Biomarker disease BEFREE However, the basis for immunosuppression by Ado has not been well defined, and effects of 2'-deoxyadenosine (dAdo), which does not activate Ado receptors, have also been implicated in causing SCID. 15580654 2005
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: 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