DUOX2, dual oxidase 2, 50506

N. diseases: 150; N. variants: 29
Disease: Thyroid Dyshormonogenesis 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 CausalMutation disease CLINVAR Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. 30154845 2018
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 CausalMutation disease CLINVAR DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. 27821020 2017
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. 27821020 2017
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. 28541007 2017
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. 27108200 2016
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 Biomarker disease GENOMICS_ENGLAND High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. 27166716 2016
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China. 27498126 2016
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 CausalMutation disease CLINVAR Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. 27108200 2016
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty. 26742565 2016
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. 27557340 2016
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. 26709262 2016
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 CausalMutation disease CLINVAR DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. 26709262 2016
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism. 26349762 2015
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 CausalMutation disease CLINVAR Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism. 26349762 2015
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. 25248169 2014
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 CausalMutation disease CLINVAR High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. 25248169 2014
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. 24423310 2014
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 CausalMutation disease CLINVAR Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene. 23457309 2013
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 CausalMutation disease CLINVAR Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. 21900383 2011
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. 21900383 2011
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease UNIPROT Compound heterozygosity for a novel hemizygous missense mutation and a partial deletion affecting the catalytic core of the H2O2-generating enzyme DUOX2 associated with transient congenital hypothyroidism. 20187165 2010
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. 18765513 2008
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 CausalMutation disease CLINVAR Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. 18765513 2008
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease UNIPROT Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect. 16322276 2006
CUI: C1846632
Disease: Thyroid Dyshormonogenesis 6
Thyroid Dyshormonogenesis 6 		0.700 GeneticVariation disease CLINVAR Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene. 17121535 2006