DisGeNET - a database of gene-disease associations

Source: INFERRED

Disease: Thyroid Dyshormonogenesis 6 ×

Gene: DUOX2 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

CausalMutation

CLINVAR

Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis.

30154845

2018

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

CausalMutation

CLINVAR

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

27821020

2017

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype.

27821020

2017

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.

28541007

2017

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

27108200

2016

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China.

27498126

2016

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

CausalMutation

CLINVAR

Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients.

27108200

2016

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty.

26742565

2016

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou.

27557340

2016

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.

26709262

2016

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

CausalMutation

CLINVAR

DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population.

26709262

2016

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism.

26349762

2015

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

CausalMutation

CLINVAR

Mutation screening of DUOX2 in Chinese patients with congenital hypothyroidism.

26349762

2015

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.

25248169

2014

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

CausalMutation

CLINVAR

High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.

25248169

2014

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects.

24423310

2014

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

CausalMutation

CLINVAR

Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene.

23457309

2013

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

CausalMutation

CLINVAR

Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.

21900383

2011

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.

21900383

2011

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

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

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

CausalMutation

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

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.

17121535

2006

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

16134168

2005

Entrez Id:	50506
Gene Symbol:	DUOX2

DUOX2

CUI:	C1846632
Disease:	Thyroid Dyshormonogenesis 6

Thyroid Dyshormonogenesis 6

0.700

GeneticVariation

CLINVAR

Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism.

12110737

2002