DIO2, iodothyronine deiodinase 2, 1734

N. diseases: 79; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.310 Biomarker group BEFREE Functional Polymorphisms of the Type 1 and Type 2 Iodothyronine Deiodinase Genes in Autoimmune Thyroid Diseases. 29648895 2018
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
0.310 Biomarker group CTD_human Monitoring of deiodinase deficiency based on transcriptomic responses in SH-SY5Y cells. 23397585 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.310 GeneticVariation disease BEFREE We hypothesize that genetic variations in the type II deiodinase (DIO2) gene that possibly alter the bioactivity of thyroid hormones are associated with BPAD. 19427350 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.310 Biomarker disease PSYGENET We hypothesize that genetic variations in the type II deiodinase (DIO2) gene that possibly alter the bioactivity of thyroid hormones are associated with BPAD. 19427350 2009
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.300 Biomarker disease CTD_human Disrupted brain thyroid hormone homeostasis and altered thyroid hormone-dependent brain gene expression in autism spectrum disorders. 24781735 2014
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.300 Biomarker disease CTD_human Molecular evidence for differences in endometrium in severe versus mild endometriosis. 21063030 2011
CUI: C0269102
Disease: Endometrioma
Endometrioma
0.300 Biomarker disease CTD_human Molecular evidence for differences in endometrium in severe versus mild endometriosis. 21063030 2011
CUI: C0025500
Disease: Mesothelioma
Mesothelioma
0.300 Biomarker disease CTD_human An antiserum prepared against a peptide deduced from the Dio2 mRNA sequence precipitates a (75)Se protein of the predicted 31-kDa size from (75)Se-labeled mesothelioma cells. 11425850 2001
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 Biomarker disease BEFREE In the male fish, transcriptions of corticotropin-releasing hormone (crh) and thyroid-stimulating hormone (tsh) in the brain were significantly up-regulated, probably as a compensation for hypothyroidism, but thyroglobulin (tg) and deiodinase 2 (dio2) were down-regulated in thyroid or liver. 30508752 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 Biomarker disease BEFREE These results indicate that D2 loss leads to significant changes in soleus contractile function and fiber type composition that are inconsistent with local hypothyroidism and suggest that reduced levels of PCG-1α may contribute to the observed phenotypical changes. 30951174 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 AlteredExpression disease BEFREE Furthermore, it was observed that the pituitary content of Dio2 mRNA was unaltered in hyperthyroidism but substantially elevated in hypothyroidism during the light phase. 30747053 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 GeneticVariation disease BEFREE An Ala92-Dio2 polymorphism-carrying mouse exhibited UPR and hypothyroidism in distinct brain areas. 30352046 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 Biomarker disease BEFREE Homozygous Dio2-deficient zebrafish were hypothyroid, displayed a delay in sexual maturity, and the duration of their reproductive period was substantially shortened. 30817317 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 GeneticVariation disease BEFREE One hypothesis is that a SNP (Thr92Ala) in DIO2 (required for local production of T3 out of T4) interferes with its kinetics and/or action, resulting in a local hypothyroid state in the brain. 31617166 2019
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 GeneticVariation disease BEFREE A new report indicates that carriers of the Thr92Ala-DIO2 polymorphism exhibit lower D2 catalytic activity and localized/systemic hypothyroidism. 30063552 2018
CUI: C0202231
Disease: Thyroxine measurement
Thyroxine measurement
0.100 GeneticVariation phenotype GWASCAT Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. 30367059 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 GeneticVariation disease BEFREE In addition, residual symptoms of hypothyroidism have been linked to a prevalent polymorphism in the DIO2 gene that might be a risk factor for neurodegenerative disease. 26416219 2015
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 GeneticVariation disease BEFREE This study investigates the clinical and biochemical response to L-T4 replacement therapy in hypothyroid patients in correlation with genetic variation in Deiodinase type ;; (DIO2) gene. 23329579 2013
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 GeneticVariation disease BEFREE A polymorphism (Thr92Ala) in the gene encoding the deiodinase 2 (D2) enzyme that converts thyroxine to triiodothyronine in the brain was later identified in about 16% of hypothyroid persons. 22548953 2013
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 Biomarker disease BEFREE Type 2 iodothyronine deiodinase in skeletal muscle: effects of hypothyroidism and fasting. 19293265 2009
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism
0.100 GeneticVariation disease BEFREE Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients. 19190113 2009
Diabetes Mellitus, Non-Insulin-Dependent
0.080 GeneticVariation disease BEFREE Moreover, inactivating mutations in type 2 deiodinase (DIO2), the major TH-activating enzyme, have been associated with type 2 diabetes mellitus in both humans and mice. 31504428 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.080 GeneticVariation disease BEFREE Homozygosity for the Dio2 Thr92Ala polymorphism is associated with higher HbA1C levels in T2DM patients. 27777960 2016
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.080 GeneticVariation disease BEFREE Our findings show how genetic variation at DIO2 could confer risk to OA and raised the possibility that counteracting thyroid signalling may be a novel therapeutic approach. 24695009 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.080 GeneticVariation disease BEFREE The entire coding-region of DIO2 gene was sequenced in 12 patients with type 2 diabetes mellitus (T2DM). 25105294 2014