DUOX2, dual oxidase 2, 50506

N. diseases: 150; N. variants: 29
Disease: Familial thyroid dyshormonogenesis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs530719719
rs530719719
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. 30240412 2018
dbSNP: rs191759494
rs191759494
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. 27821020 2017
dbSNP: rs530719719
rs530719719
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR DUOX2 Mutations Are Associated With Congenital Hypothyroidism With Ectopic Thyroid Gland. 28666341 2017
dbSNP: rs530719719
rs530719719
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. 27821020 2017
dbSNP: rs191759494
rs191759494
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. 26709262 2016
dbSNP: rs530719719
rs530719719
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine. 26990548 2016
dbSNP: rs191759494
rs191759494
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands. 25248169 2014
dbSNP: rs530719719
rs530719719
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. 24423310 2014
dbSNP: rs191759494
rs191759494
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene. 23457309 2013
dbSNP: rs191759494
rs191759494
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients. 21900383 2011
dbSNP: rs530719719
rs530719719
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR Identification and functional analysis of novel dual oxidase 2 (DUOX2) mutations in children with congenital or subclinical hypothyroidism. 21565790 2011
dbSNP: rs530719719
rs530719719
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR Clinical, biochemical, and molecular findings in Argentinean patients with goitrous congenital hypothyroidism. 20972728 2010
dbSNP: rs530719719
rs530719719
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation 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
dbSNP: rs530719719
rs530719719
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C4273748
Disease:
Familial thyroid dyshormonogenesis 		T 0.700 CausalMutation CLINVAR Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. 12110737 2002