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: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
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: C0001925
Disease: Albuminuria
Albuminuria 		0.100 GeneticVariation phenotype GWASCAT Genetic Association of Albuminuria with Cardiometabolic Disease and Blood Pressure. 30220432 2018
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: 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: 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: 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 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 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 GeneticVariation disease BEFREE In this study we analysed the imaging patterns in two families containing five members with asymptomatic and uncomplicated autosomal dominant osteopetrosis (ADO II), and we report new and uncommon radiological manifestations. 19547970 2009
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis 		0.100 GeneticVariation disease BEFREE Type II autosomal dominant osteopetrosis (ADO II) is characterized by an increased bone mass that contrasts with the high frequency of fractures. 11028441 2000
CUI: C4272579
Disease: Autosomal Dominant Osteopetrosis
Autosomal Dominant Osteopetrosis 		0.100 GeneticVariation disease BEFREE Type II autosomal dominant osteopetrosis (ADO II, Albers-Schonberg disease) is a genetic condition characterized by generalized osteosclerosis predominating in some skeletal sites such as the spine and pelvis. 10617161 2000
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: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.050 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: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.050 GeneticVariation disease BEFREE The G215R mutation in the Cl-/H+-antiporter ClC-7 found in ADO II osteopetrosis does not abolish function but causes a severe trafficking defect. 20830208 2010
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.050 GeneticVariation disease BEFREE They range from a devastating neurometabolic disease, through severe malignant infantile osteopetrosis (OP) to two more benign conditions principally affecting adults [autosomal dominant OP (ADO I and II)]. 12662317 2003
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: 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: 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: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.040 Biomarker disease BEFREE The simplified and optimized B-AE-Ds and the ADO index had good discrimination and calibration properties for the prediction of mortality in stable COPD patients. 31665736 2019
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: 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