DUOX2, dual oxidase 2, 50506

N. diseases: 150; N. variants: 29
Disease: Goiter ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs368488511
rs368488511
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C0018021
Disease:
Goiter 		0.020 GeneticVariation BEFREE Furthermore, we also identified a compound heterozygosity involving the DUOX2 gene (ENST00000603300:c.1588A > T:p.Lys530* and c.3329G > A:p.Arg1110Gln) in both sisters which are inherited from both parents and may be correlated with early onset of goiter. 28222800 2017
dbSNP: rs368488511
rs368488511
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C0018021
Disease:
Goiter 		0.020 GeneticVariation BEFREE To describe the first adult case of large goiter associated with a novel R1110Q mutation in the dual oxidase 2 (DUOX2) gene. 18426362 2008
dbSNP: rs180671269
rs180671269
Entrez Id: 50506
Gene Symbol: DUOX2
DUOX2
CUI: C0018021
Disease:
Goiter 		0.010 GeneticVariation BEFREE Furthermore, we also identified a compound heterozygosity involving the DUOX2 gene (ENST00000603300:c.1588A > T:p.Lys530* and c.3329G > A:p.Arg1110Gln) in both sisters which are inherited from both parents and may be correlated with early onset of goiter. 28222800 2017