DUOX2, dual oxidase 2, 50506

N. diseases: 150; N. variants: 29
Disease: Familial thyroid dyshormonogenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. 30240412 2018
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. 27821020 2017
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland. 28666341 2017
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. 26990548 2016
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. 26709262 2016
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. 25248169 2014
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. 24423310 2014
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene. 23457309 2013
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. 21900383 2011
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism. 21565790 2011
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism. 20972728 2010
CUI: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR 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: C4273748
Disease: Familial thyroid dyshormonogenesis
Familial thyroid dyshormonogenesis 		0.100 CausalMutation disease CLINVAR Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. 12110737 2002