DUOX2, dual oxidase 2, 50506

N. diseases: 150; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2750949
Disease: Iodide organification defect
Iodide organification defect
0.300 Biomarker phenotype GENOMICS_ENGLAND High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. 27166716 2016