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: 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: 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: 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: 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